NIH: National Institute of Diabetes and Digestive and Kidney Diseases; UMLS Semantic Type: STY:T047; A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. [HPO:probinson]; Diabetes means your blood glucose, or blood sugar, levels are too high. With type 1 diabetes, your pancreas does not make insulin. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. Type 1 diabetes happens most often in children and young adults but can appear at any age. Symptoms may include: Being very thirsty Urinating often Feeling very hungry or tired Losing weight without trying Having sores that heal slowly Having dry, itchy skin Losing the feeling in your feet or having tingling in your feet Having blurry eyesight A blood test can show if you have diabetes. If you do, you will need to take insulin for the rest of your life. A blood test called the A1C can check to see how well you are managing your diabetes.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases; A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.; A chronic condition characterized by minimal or absent production of insulin by the pancreas.; UMLS Semantic Type: STY:T047", "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:synonym", "value": ["Diabetes Mellitus, Type 1", "Type 1 Diabetes Mellitus", "Diabetes mellitus, insulin-dependent", "Diabetes Type 1", "Type i diabetes mellitus", "Type I diabetes mellitus", "Diabetes mellitus, type 1", "Type 1 diabetes mellitus", "type 1 diabetes mellitus", "Type 1 diabetes mellitus related phenotypic feature"], "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_disease", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_glucose_metabolism_disease", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_endocrine_pancreas_disorder", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_metabolic_disease", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_autoimmune_disease", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_pancreas_disorder", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_immune_system_disorder", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_human_disease", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": ["MONDO:0005147", "DOID:9744", "OMIM:222100", "UMLS:C0011854", "UMLS:C5435660", "MESH:D003922", "MEDDRA:10012608", "MEDDRA:10012609", "MEDDRA:10021211", "MEDDRA:10022482", "MEDDRA:10022497", "MEDDRA:10023253", "MEDDRA:10045228", "MEDDRA:10067584", "MEDDRA:10085412", "NCIT:C2986", "SNOMEDCT:46635009", "KEGG.DISEASE:04940", "HP:0100651"], "value_type_id": null, "original_attribute_name": "equivalent_identifiers", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/MONDO_0005147", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Diabetes means your blood glucose, or blood sugar, levels are too high. With type 1 diabetes, your pancreas does not make insulin. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. Type 1 diabetes happens most often in children and young adults but can appear at any age. Symptoms may include: Being very thirsty Urinating often Feeling very hungry or tired Losing weight without trying Having sores that heal slowly Having dry, itchy skin Losing the feeling in your feet or having tingling in your feet Having blurry eyesight A blood test can show if you have diabetes. If you do, you will need to take insulin for the rest of your life. A blood test called the A1C can check to see how well you are managing your diabetes.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases; UMLS Semantic Type: STY:T047; A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. [HPO:probinson]; Diabetes means your blood glucose, or blood sugar, levels are too high. With type 1 diabetes, your pancreas does not make insulin. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. Type 1 diabetes happens most often in children and young adults but can appear at any age. Symptoms may include: Being very thirsty Urinating often Feeling very hungry or tired Losing weight without trying Having sores that heal slowly Having dry, itchy skin Losing the feeling in your feet or having tingling in your feet Having blurry eyesight A blood test can show if you have diabetes. If you do, you will need to take insulin for the rest of your life. A blood test called the A1C can check to see how well you are managing your diabetes.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases; A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.; A chronic condition characterized by minimal or absent production of insulin by the pancreas.; UMLS Semantic Type: STY:T047", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "MONDO:0005147", "_id": "MONDO:0005147", "_score": 9.827722, "disease_ontology": {"_license": "https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt", "def": "\"A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.\" [url:http\\://en.wikipedia.org/wiki/Diabetes, url:http\\://en.wikipedia.org/wiki/Diabetes_mellitus_type_1]", "doid": "DOID:9744", "name": "type 1 diabetes mellitus", "synonyms": {"exact": ["IDDM", "insulin-dependent diabetes mellitus", "type I diabetes mellitus"]}, "xrefs": {"gard": "10268", "icd10": "E10", "kegg": "04940", "mesh": "D003922", "mim": "222100", "ncit": "C2986", "snomedct_us_2023_03_01": "46635009", "umls_cui": "C0011854"}}, "mondo": {"mondo": "MONDO:0005147", "synonym": {"exact": ["diabetes mellitis type 1", "diabetes mellitis type I", "IDDM", "immune mediated diabetes", "insulin dependent diabetes", "insulin-dependent diabetes mellitus", "juvenile diabetes", "T1D", "T1DM", "type 1 diabetes", "type I diabetes", "type I diabetes mellitus"]}, "xrefs": {"doid": ["DOID:9744"], "icd10cm": ["E10"], "icd10who": ["E10"], "icd11": "1651053999", "medgen": ["41522"], "mesh": ["D003922"], "nando": ["2200460"], "ncit": ["C2986"], "omim": ["222100"], "orphanet": ["243377"], "sctid": ["46635009"], "umls": ["C0011854"]}}, "umls": {"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C0011854"}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, 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"EDAM:data_0954", "value": "(OMOP:201820)-[OMOP Map]-(SNOMEDCT:73211009)-[SRI Node Norm]-(MONDO:0005015)", "value_type_id": "EDAM:data_0954", "original_attribute_name": "Database cross-mapping", "value_url": null, "attribute_source": "infores:cohd", "description": null, "attributes": [{"attribute_type_id": "EDAM:data_1087", "value": "OMOP:201820", "value_type_id": "EDAM:data_1087", "original_attribute_name": "concept_id", "value_url": "https://athena.ohdsi.org/search-terms/terms/201820", "attribute_source": "infores:omop-ohdsi", "description": null, "attributes": null}, {"attribute_type_id": "EDAM:data_2339", "value": "Diabetes mellitus", "value_type_id": "EDAM:data_2339", "original_attribute_name": "concept_name", "value_url": null, "attribute_source": "infores:omop-ohdsi", "description": null, "attributes": null}, {"attribute_type_id": "EDAM:data_0967", "value": "Condition", "value_type_id": "EDAM:data_0967", "original_attribute_name": "domain", "value_url": null, "attribute_source": 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"attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_endocrine_pancreas_disorder", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:synonym", "value": ["Diabetes mellitus", "diabetes mellitus", "Diabetes Mellitus"], "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_metabolic_disease", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "value": "Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. Blood tests can show if you have diabetes. One type of test, the A1C, can also check on how you are managing your diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your blood glucose level and take medicine if prescribed.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases; UMLS Semantic Type: STY:T047; diabetes mellitus; A group of abnormalities characterized by hyperglycemia and glucose intolerance. [HPO:probinson]; Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. Blood tests can show if you have diabetes. One type of test, the A1C, can also check on how you are managing your diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your blood glucose level and take medicine if prescribed.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases; A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.; A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.; A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. Check for \"https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C2985\" active clinical trials using this agent. (\"http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C2985\" NCI Thesaurus); UMLS Semantic Type: STY:T047", "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:IriType", "value": "http://purl.obolibrary.org/obo/MONDO_0005015", "value_type_id": "metatype:Uri", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_pancreas_disorder", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "value": "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.", "value_type_id": "dct:description", "original_attribute_name": "description", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_human_disease", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": ["MONDO:0005015", "DOID:9351", "UMLS:C0011849", "MESH:D003920", "MEDDRA:10012594", "MEDDRA:10012601", "MEDDRA:10012614", "NCIT:C2985", "SNOMEDCT:73211009", "ICD10:E08-E13", "ICD9:250", "HP:0000819"], "value_type_id": null, "original_attribute_name": "equivalent_identifiers", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/MONDO_0005015", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. Blood tests can show if you have diabetes. One type of test, the A1C, can also check on how you are managing your diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your blood glucose level and take medicine if prescribed.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases; UMLS Semantic Type: STY:T047; diabetes mellitus; A group of abnormalities characterized by hyperglycemia and glucose intolerance. [HPO:probinson]; Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. Blood tests can show if you have diabetes. One type of test, the A1C, can also check on how you are managing your diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your blood glucose level and take medicine if prescribed.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases; A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.; A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.; A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. Check for \"https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C2985\" active clinical trials using this agent. (\"http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C2985\" NCI Thesaurus); UMLS Semantic Type: STY:T047", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "MONDO:0005015", "_id": "MONDO:0005015", "_score": 9.827722, "disease_ontology": {"_license": "https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt", "def": "\"A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.\" [url:http\\://www.who.int/diabetes/action_online/basics/en/, url:https\\://en.wikipedia.org/wiki/Diabetes_mellitus, url:https\\://medlineplus.gov/diabetes.html, url:https\\://www.ncbi.nlm.nih.gov/pubmed/9686693]", "doid": "DOID:9351", "name": "diabetes mellitus", "synonyms": {"exact": ["diabetes"]}, "xrefs": {"icd10": "E08-E13", "icd9": "250", "mesh": "D003920", "ncit": "C2985", "snomedct_us_2023_03_01": "267467004", "umls_cui": "C0011849"}}, "mondo": {"mondo": "MONDO:0005015", "synonym": {"exact": ["diabetes", "diabetes mellitus", "diabetes mellitus (disease)", "DM"]}, "xrefs": {"doid": ["DOID:9351"], "efo": ["EFO:0000400"], "hp": ["HP:0000819"], "icd10cm": ["E08-E13"], "icd10who": ["E10-E14"], "icd11": "465177735", "icd9": ["250"], "medgen": ["8350"], "mesh": ["D003920"], "nando": ["2100158", "2100157"], "ncit": ["C2985"], "sctid": ["73211009"], "umls": ["C0011849"]}}, "umls": {"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C0011849"}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": null}, "MONDO:0005665": {"categories": ["biolink:BiologicalEntity", "biolink:Disease", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:DiseaseOrPhenotypicFeature"], "name": "Bell's palsy", "attributes": [{"attribute_type_id": "biolink:IriType", "value": "http://purl.obolibrary.org/obo/MONDO_0005665", "value_type_id": "metatype:Uri", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:synonym", "value": ["bell palsy", "Cranial Nerve VII Palsy", "Bell's palsy", "Facial muscle weakness of muscles innervated by cn vii", "Bell palsy", "facial palsy", "Bell's Palsy", "Facial muscle weakness of muscles innervated by CN VII", "Bell Palsy", "Facial palsy", "Bell's palsy"], "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_palsy", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": ["MEDDRA:10080910", "NCIT:C26769", "UMLS:C0376175", "ICD9:351.0", "ICD10:G51.0", "DOID:12506", "SNOMEDCT:193093009", "HP:0010628", "EFO:0007167", "MESH:D020330", "MEDDRA:10004223", "medgen:87660", "MEDDRA:10033559", "UMLS:C1858719", "MONDO:0005665"], "value_type_id": null, "original_attribute_name": "equivalent_identifiers", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_disease", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_peripheral_nervous_system_disorder", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "value": "Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include: Twitching Weakness Paralysis Drooping eyelid or corner of mouth Drooling Dry eye or mouth Excessive tearing in the eye Impaired ability to taste Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu. Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months.
NIH: National Institute of Neurological Disorders and Stroke; UMLS Semantic Type: STY:T047; temporary facial paralysis resulting from damage; Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. [HPO:sdoelken]; Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include: Twitching Weakness Paralysis Drooping eyelid or corner of mouth Drooling Dry eye or mouth Excessive tearing in the eye Impaired ability to taste Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu. Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months.
NIH: National Institute of Neurological Disorders and Stroke; A syndrome characterized by the acute onset of unilateral FACIAL PARALYSIS which progresses over a 2-5 day period. Weakness of the orbicularis oculi muscle and resulting incomplete eye closure may be associated with corneal injury. Pain behind the ear often precedes the onset of paralysis. This condition may be associated with HERPESVIRUS 1, HUMAN infection of the facial nerve. 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This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)", "value_type_id": "dct:description", "original_attribute_name": "description", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "value": "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. [HPO:curators]; Paralysis is the loss of muscle function in part of your body. It happens when something goes wrong with the way messages pass between your brain and muscles. Paralysis can be complete or partial. It can occur on one or both sides of your body. It can also occur in just one area, or it can be widespread. Paralysis of the lower half of your body, including both legs, is called paraplegia. Paralysis of the arms and legs is quadriplegia. Most paralysis is due to strokes or injuries such as spinal cord injury or a broken neck. Other causes of paralysis include: Nerve diseases such as amyotrophic lateral sclerosis Autoimmune diseases such as Guillain-Barre syndrome Bell's palsy, which affects muscles in the face Polio used to be a cause of paralysis, but polio no longer occurs in the U.S.; A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45); Partial or complete loss of function of one or more muscles. 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Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. [HPO:probinson]; Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. When you are pregnant, high blood sugar levels are not good for your baby. About seven out of every 100 pregnant women in the United States get gestational diabetes. Gestational diabetes is diabetes that happens for the first time when a woman is pregnant. Most of the time, it goes away after you have your baby. But it does increase your risk for developing type 2 diabetes later on. Your child is also at risk for obesity and type 2 diabetes. Most women get a test to check for diabetes during their second trimester of pregnancy. Women at higher risk may get a test earlier. If you already have diabetes, the best time to control your blood sugar is before you get pregnant. High blood sugar levels can be harmful to your baby during the first weeks of pregnancy - even before you know you are pregnant. To keep you and your baby healthy, it is important to keep your blood sugar as close to normal as possible before and during pregnancy. Either type of diabetes during pregnancy increases the chances of problems for you and your baby. To help lower the chances talk to your health care team about: A meal plan for your pregnancy A safe exercise plan How often to test your blood sugar Taking your medicine as prescribed. Your medicine plan may need to change during pregnancy.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases; Diabetes mellitus induced by PREGNANCY but resolved at the end of pregnancy. It does not include previously diagnosed diabetics who become pregnant (PREGNANCY IN DIABETICS). 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Malignant cells exhibit distinct features such as glandular epithelial, or tubular morphology. Mutations in KRAS, EGFR, BRAF, and ERBB2 genes are associated with this cancer.; A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.; A carcinoma characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. 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There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. 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Lung carcinomas usually arise from the epithelium that lines the bronchial tree (bronchogenic carcinomas), and are classified as small cell or non-small cell carcinomas. Non-small cell lung carcinomas are usually adenocarcinomas, squamous cell carcinomas, or large cell carcinomas. Metastatic carcinomas to the lung are also common, and can be difficult to distinguish from primary tumors.; A carcinoma originating in the lung. Lung carcinomas usually arise from the epithelium that lines the bronchial tree (bronchogenic carcinomas), and are classified as small cell or non-small cell carcinomas. Non-small cell lung carcinomas are usually adenocarcinomas, squamous cell carcinomas, or large cell carcinomas. Metastatic carcinomas to the lung are also common, and can be difficult to distinguish from primary tumors. Check for \"https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C4878\" active clinical trials using this agent. 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{"attribute_type_id": "biolink:description", "value": "A malignant plasma cell tumor growing within soft tissue or within the skeleton. [HPO:sdoelken]; Multiple myeloma is a cancer that begins in plasma cells, a type of white blood cell. These cells are part of your immune system, which helps protect the body from germs and other harmful substances. In time, myeloma cells collect in the bone marrow and in the solid parts of bones. No one knows the exact causes of multiple myeloma, but it is more common in older people and African Americans. It can run in families. Common symptoms may include: Bone pain, often in the back or ribs Fractures (broken bones) Weakness or fatigue Weight loss Frequent infections and fevers Feeling very thirsty Frequent urination Doctors diagnose multiple myeloma using lab tests, imaging tests, and a bone marrow biopsy. Your treatment depends on how advanced the disease is and whether you have symptoms. If you have no symptoms, you may not need treatment right away. If you have symptoms, you may have chemotherapy, stem cell transplantation, radiation, or targeted therapy. Targeted therapy uses drugs or other substances that attack specific cancer cells with less harm to normal cells.
NIH: National Cancer Institute; A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY.; A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001); A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001) Check for \"https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3242\" active clinical trials using this agent. 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It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.", "value_type_id": "dct:description", "original_attribute_name": "description", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_nervous_system_disorder", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:synonym", "value": ["Schizophrenia", "Schizophrenic disorders", "Schizophrenia related phenotypic feature", "SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER", "schizophrenia"], "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_mental_disorder", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:url", "value": "https://www.ebi.ac.uk/ols/ontologies/doid/terms?obo_id=DOID:5419", "value_type_id": "xsd:string", "original_attribute_name": "url", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_disease", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "value": "Schizophrenia is a serious brain illness. People who have it may hear voices that aren't there. They may think other people are trying to hurt them. Sometimes they don't make sense when they talk. The disorder makes it hard for them to keep a job or take care of themselves. Symptoms of schizophrenia usually start between ages 16 and 30. Men often develop symptoms at a younger age than women. People usually do not get schizophrenia after age 45. There are three types of symptoms: Psychotic symptoms distort a person's thinking. These include hallucinations (hearing or seeing things that are not there), delusions (beliefs that are not true), trouble organizing thoughts, and strange movements. \"Negative\" symptoms make it difficult to show emotions and to function normally. A person may seem depressed and withdrawn. Cognitive symptoms affect the thought process. These include trouble using information, making decisions, and paying attention. No one is sure what causes schizophrenia. Your genes, environment, and brain chemistry may play a role. There is no cure. Medicine can help control many of the symptoms. You may need to try different medicines to see which works best. You should stay on your medicine for as long as your doctor recommends. Additional treatments can help you deal with your illness from day to day. These include therapy, family education, rehabilitation, and skills training.
NIH: National Institute of Mental Health; UMLS Semantic Type: STY:T048; A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%. [HPO:sdoelken]; Schizophrenia is a serious brain illness. People who have it may hear voices that aren't there. They may think other people are trying to hurt them. Sometimes they don't make sense when they talk. The disorder makes it hard for them to keep a job or take care of themselves. Symptoms of schizophrenia usually start between ages 16 and 30. Men often develop symptoms at a younger age than women. People usually do not get schizophrenia after age 45. There are three types of symptoms: Psychotic symptoms distort a person's thinking. These include hallucinations (hearing or seeing things that are not there), delusions (beliefs that are not true), trouble organizing thoughts, and strange movements. \"Negative\" symptoms make it difficult to show emotions and to function normally. A person may seem depressed and withdrawn. Cognitive symptoms affect the thought process. These include trouble using information, making decisions, and paying attention. No one is sure what causes schizophrenia. Your genes, environment, and brain chemistry may play a role. There is no cure. Medicine can help control many of the symptoms. You may need to try different medicines to see which works best. You should stay on your medicine for as long as your doctor recommends. Additional treatments can help you deal with your illness from day to day. These include therapy, family education, rehabilitation, and skills training.
NIH: National Institute of Mental Health; A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.; A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. 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"MONDO:0005485": {"categories": ["biolink:BehavioralFeature", "biolink:BiologicalEntity", "biolink:Disease", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:DiseaseOrPhenotypicFeature"], "name": "psychosis", "attributes": [{"attribute_type_id": "EDAM:data_0954", "value": "(OMOP:436073)-[OMOP Map]-(SNOMEDCT:69322001)-[SRI Node Norm]-(MONDO:0005485)", "value_type_id": "EDAM:data_0954", "original_attribute_name": "Database cross-mapping", "value_url": null, "attribute_source": "infores:cohd", "description": null, "attributes": [{"attribute_type_id": "EDAM:data_1087", "value": "OMOP:436073", "value_type_id": "EDAM:data_1087", "original_attribute_name": "concept_id", "value_url": "https://athena.ohdsi.org/search-terms/terms/436073", "attribute_source": "infores:omop-ohdsi", "description": null, "attributes": null}, {"attribute_type_id": "EDAM:data_2339", "value": "Psychotic disorder", "value_type_id": "EDAM:data_2339", "original_attribute_name": "concept_name", "value_url": null, "attribute_source": "infores:omop-ohdsi", "description": null, "attributes": null}, {"attribute_type_id": "EDAM:data_0967", "value": "Condition", "value_type_id": "EDAM:data_0967", "original_attribute_name": "domain", "value_url": null, "attribute_source": "infores:omop-ohdsi", "description": null, "attributes": null}]}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_brain_disorder", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "value": "An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities.", "value_type_id": "dct:description", "original_attribute_name": "description", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": 100.0, "value_type_id": null, "original_attribute_name": "information_content", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_cognitive_disorder", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_nervous_system_disorder", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_mental_disorder", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "value": "Psychotic disorders are severe mental disorders that cause abnormal thinking and perceptions. People with psychoses lose touch with reality. Two of the main symptoms are delusions and hallucinations. Delusions are false beliefs, such as thinking that someone is plotting against you or that the TV is sending you secret messages. Hallucinations are false perceptions, such as hearing, seeing, or feeling something that is not there. Schizophrenia is one type of psychotic disorder. People with bipolar disorder may also have psychotic symptoms. Other problems that can cause psychosis include alcohol and some drugs, brain tumors, brain infections, and stroke. Treatment depends on the cause of the psychosis. It might involve drugs to control symptoms and talk therapy. Hospitalization is an option for serious cases where a person might be dangerous to himself or others.; UMLS Semantic Type: STY:T048; UMLS Semantic Type: STY:T048; UMLS Semantic Type: STY:T048; A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs. [HPO:curators]; Psychotic disorders are severe mental disorders that cause abnormal thinking and perceptions. People with psychoses lose touch with reality. Two of the main symptoms are delusions and hallucinations. Delusions are false beliefs, such as thinking that someone is plotting against you or that the TV is sending you secret messages. Hallucinations are false perceptions, such as hearing, seeing, or feeling something that is not there. Schizophrenia is one type of psychotic disorder. People with bipolar disorder may also have psychotic symptoms. Other problems that can cause psychosis include alcohol and some drugs, brain tumors, brain infections, and stroke. Treatment depends on the cause of the psychosis. It might involve drugs to control symptoms and talk therapy. Hospitalization is an option for serious cases where a person might be dangerous to himself or others.; Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. 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Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss.", "value_type_id": "dct:description", "original_attribute_name": "description", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_infectious_disease", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_disease", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "value": "A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss // A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. 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The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.\" [url:http\\://www.cdc.gov/tb/publications/factsheets/general/tb.htm, url:https\\://www.merriam-webster.com/dictionary/tuberculosis#medicalDictionary]", "doid": "DOID:2957", "name": "pulmonary tuberculosis", "synonyms": {}, "xrefs": {"icd10": "A15", "icd9": "011", "mesh": "D014397", "ncit": "C26899", "snomedct_us_2023_03_01": "81483001", "umls_cui": "C0041327"}}, "mondo": {"mondo": "MONDO:0006052", "synonym": {"exact": ["lung TB", "lung tuberculosis", "pulmonary TB"]}, "xrefs": {"doid": ["DOID:2957"], "efo": ["EFO:1000049"], "icd9": ["011.96", "011", "011.85", "011.16", "011.84", "011.86", "011.81", "011.92", "011.9", "011.80", "011.90"], "medgen": ["11947"], "mesh": ["D014397"], "ncit": ["C26899"], "sctid": ["154283005"], "umls": ["C0041327"]}}, "umls": {"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C0041327"}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": null}, "MONDO:0000995": {"categories": ["biolink:Disease"], "name": "familial periodic paralysis", "attributes": [{"attribute_type_id": "biolink:IriType", "value": "http://purl.obolibrary.org/obo/MONDO_0000995", "value_type_id": "metatype:Uri", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "value": "A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481); A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. 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Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.\" [url:https\\://www.cedars-sinai.org/health-library/diseases-and-conditions/p/periodic-paralysis.html, url:https\\://www.ninds.nih.gov/health-information/disorders/familial-periodic-paralyses]", "doid": "DOID:1029", "name": "familial periodic paralysis", "synonyms": {}, "xrefs": {"gard": "6422", "icd10": "G72.3", "mesh": "D010245", "ncit": "C84709", "snomedct_us_2023_03_01": "193241004", "umls_cui": "C0030443"}}, "mondo": {"mondo": "MONDO:0000995", "synonym": {"exact": ["familial periodic paralysis", "hereditary periodic paralysis (disease)"], "related": ["familial periodic paralyses", "familial periodic paralyzes", "genetic periodic paralysis", "normokalemic periodic paralyses", "normokalemic periodic paralysis", "normokalemic periodic paralyzes", "paralysis, familial periodic", "paralysis, normokalemic periodic", "paralyzes, normokalemic periodic", "periodic paralysis, familial", "periodic paralysis, normokalemic", "periodic paralyzes, familial", "periodic paralyzes, normokalemic"]}, "xrefs": {"doid": ["DOID:1029"], "gard": ["21613"], "medgen": ["18291"], "mesh": ["D010245"], "nando": ["1200502"], "ncit": ["C84709"], "orphanet": ["371433"], "sctid": ["267607008"], "umls": ["C0030443"]}}, "umls": {"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C0030443"}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": null}, "MONDO:0001484": {"categories": ["biolink:BehavioralFeature", "biolink:Disease"], "name": "paranoid schizophrenia", "attributes": [{"attribute_type_id": "biolink:description", "value": "UMLS Semantic Type: STY:T048; 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There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. // COMMENTS: Editor note: check relationship to RCC", "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "value": "A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.", "value_type_id": "dct:description", "original_attribute_name": "description", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_urinary_system_disorder", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": 67.4, "value_type_id": null, "original_attribute_name": "information_content", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_kidney_disorder", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_epithelial_neoplasm", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_kidney_neoplasm", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": ["EFO:0005708", "NCIT:C9385", "MONDO:0005549"], "value_type_id": null, "original_attribute_name": "equivalent_identifiers", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_human_disease", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_glandular_cell_neoplasm", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"value": [{"query": "MONDO:0005549", "_id": "MONDO:0005549", "_score": 9.827722, "mondo": {"mondo": "MONDO:0005549", "synonym": {"exact": ["adenocarcinoma of kidney", "adenocarcinoma of the kidney", "carcinoma, renal cell, malignant", "kidney adenocarcinoma", "RCC", "renal cell adenocarcinoma", "renal cell cancer", "renal cell carcinoma, stage unspecified"]}, "xrefs": {"efo": ["EFO:0005708"], "icdo": ["8312/3", "8311/1"], "nando": ["2200045"], "ncit": ["C9385"]}}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": null}, "MONDO:0003050": {"categories": ["biolink:Disease"], "name": "lung large cell carcinoma", "attributes": [{"attribute_type_id": "biolink:IriType", "value": "http://purl.obolibrary.org/obo/MONDO_0003050", "value_type_id": "metatype:Uri", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:synonym", "value": ["Large cell lung carcinoma", "large cell lung carcinoma", "Lung Large Cell Carcinoma", "lung large cell carcinoma"], "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:description", "value": "A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin. [HPO:probinson]; An undifferentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular, squamous, or neuroendocrine differentiation.; A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection. Check for \"https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C4450\" active clinical trials using this agent. (\"http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C4450\" NCI Thesaurus); UMLS Semantic Type: STY:T191", "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"value": [{"query": "MONDO:0003050", "_id": "MONDO:0003050", "_score": 9.827722, "disease_ontology": {"_license": "https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt", "def": "", "doid": "DOID:4556", "name": "lung large cell carcinoma", "synonyms": {"exact": ["large cell carcinoma of lung", "large cell lung carcinoma"]}, "xrefs": {"ncit": "C4450", "snomedct_us_2023_03_01": "254629004", "umls_cui": "C0345958"}}, "mondo": {"mondo": "MONDO:0003050", "synonym": {"exact": ["anaplastic lung carcinoma", "large cell carcinoma of lung", "large cell carcinoma of the lung", "large cell lung cancer", "large cell lung carcinoma", "large cell undifferentiated lung carcinoma", "lung large cell carcinoma"], "related": ["LCLC"]}, "xrefs": {"doid": ["DOID:4556"], "efo": ["EFO:0003050"], "icd9": ["162.9"], "medgen": ["91060"], "ncit": ["C4450"], "oncotree": ["LCLC"], "sctid": ["254629004"], "umls": ["C0345958"]}}, "umls": {"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C0345958"}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": null}, "CHEBI:25741": {"categories": ["biolink:ChemicalEntityOrGeneOrGeneProduct", "biolink:PhysicalEssence", "biolink:ChemicalEntity", "biolink:SmallMolecule", "biolink:MolecularEntity", "biolink:ChemicalEntityOrProteinOrPolypeptide", "biolink:PhysicalEssenceOrOccurrent", "biolink:NamedThing", "biolink:ChemicalOrDrugOrTreatment"], "name": "oxide", "attributes": [{"attribute_type_id": "biolink:Attribute", "value": 100.0, "value_type_id": null, "original_attribute_name": "information_content", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:IriType", "value": "http://purl.obolibrary.org/obo/CHEBI_25741", "value_type_id": "metatype:Uri", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "value": "An oxide is a chemical compound of oxygen with other chemical elements.", "value_type_id": "dct:description", "original_attribute_name": "description", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "value": "An oxide is a chemical compound of oxygen with other chemical elements.; ; An oxide is a chemical compound of oxygen with other chemical elements.; An oxide is a chemical compound of oxygen with other chemical elements.; An oxide is a chemical compound of oxygen with other chemical elements.; An oxide is a chemical compound of oxygen with other chemical elements.; An oxide is a chemical compound of oxygen with other chemical elements.; An oxide is a chemical compound of oxygen with other chemical elements.; An oxide is a chemical compound of oxygen with other chemical elements.", "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": ["CHEBI:25741", "CHEBI:29356", "PUBCHEM.COMPOUND:190217", "MESH:D010087", "CAS:16833-27-5", "INCHIKEY:AHKZTVQIVOEVFO-UHFFFAOYSA-N", "UMLS:C0030015"], "value_type_id": null, "original_attribute_name": "equivalent_identifiers", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": ["PUBCHEM.COMPOUND:190217", "UMLS:C0030015", "CHEBI:29356", "CHEBI:25741", "INCHIKEY:AHKZTVQIVOEVFO-UHFFFAOYSA-N", "MESH:D010087", "CAS:16833-27-5"], "value_type_id": null, "original_attribute_name": "equivalent_identifiers", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:synonym", "value": ["Oxides", "oxide(2-)", "oxide"], "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"value": [{"query": "CHEBI:25741", "_id": "CHEBI:25741", "_score": 10.743014, "chebi": {"_license": "http://bit.ly/2KAUCAm", "definition": "An oxide is a chemical compound of oxygen with other chemical elements.", "id": "CHEBI:25741", "name": "oxide"}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": null}, "MONDO:0006278": {"categories": ["biolink:Disease"], "name": "lung papilloma", "attributes": [{"attribute_type_id": "biolink:IriType", "value": "http://purl.obolibrary.org/obo/MONDO_0006278", "value_type_id": "metatype:Uri", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:synonym", "value": ["Bronchial Papilloma", "lung papilloma", "Lung Papilloma", "Bronchial papilloma"], "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:description", "value": "A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus. [PMID:32309132]; A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction.; UMLS Semantic Type: STY:T191", "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"value": [{"query": "MONDO:0006278", "_id": "MONDO:0006278", "_score": 9.827722, "mondo": {"mondo": "MONDO:0006278", "synonym": {"exact": ["lung papilloma", "papilloma of respiratory tract", "papilloma of the respiratory tract", "respiratory tract papilloma"]}, "xrefs": {"efo": ["EFO:1000335"], "medgen": ["1709750"], "ncit": ["C8295"], "umls": ["C5397991"]}}, "umls": {"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C5397991"}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": null}, "HP:0100754": {"categories": ["biolink:PhenotypicFeature", "biolink:BiologicalEntity", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:DiseaseOrPhenotypicFeature"], "name": "Mania", "attributes": [{"attribute_type_id": "biolink:Attribute", "value": ["NCIT:C61374", "NCIT:C78349", "HP:0100754", "MEDDRA:10037239", "MEDDRA:10026781", "MEDDRA:10037953", "MESH:D000087122", "UMLS:C0564408", "UMLS:C0241934", "SNOMEDCT:281257007", "UMLS:C0151772", "SNOMEDCT:231494001", "NCIT:C35166", "MEDDRA:10026782", "SNOMEDCT:405273008", "NCIT:C117248", "MEDDRA:10026752", "UMLS:C0338831", "MEDDRA:10026780", "MEDDRA:10021030", "MEDDRA:10026749", "SNOMEDCT:231496004"], "value_type_id": null, "original_attribute_name": "equivalent_identifiers", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": 100.0, "value_type_id": null, "original_attribute_name": "information_content", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": ["HP:0100754", "NCIT:C117248", "NCIT:C35166", "NCIT:C61374", "NCIT:C78349", "UMLS:C0151772", "UMLS:C0241934", "UMLS:C0338831", "UMLS:C0564408", "MEDDRA:10021030", "MEDDRA:10026749", "MEDDRA:10026752", "MEDDRA:10026780", "MEDDRA:10026781", "MEDDRA:10026782", "MEDDRA:10037239", "MEDDRA:10037953", "SNOMEDCT:231494001", "SNOMEDCT:231496004", "SNOMEDCT:281257007", "SNOMEDCT:405273008", "MESH:D000087122"], "value_type_id": null, "original_attribute_name": "equivalent_identifiers", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "value": "A state of abnormally elevated or irritable mood, arousal, and/or energy levels.", "value_type_id": "dct:description", "original_attribute_name": "description", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"value": [{"query": "HP:0100754", "_id": "HP:0100754", "_score": 9.448569, "annotations": [{"disease_id": "ORPHA:189427", "gene": {"id": "79798", "symbol": "ARMC5"}}, {"disease_id": "ORPHA:189427", "gene": {"id": "23028", "symbol": "KDM1A"}}, {"disease_id": "ORPHA:189427", "gene": {"id": "2778", "symbol": "GNAS"}}, {"disease_id": "OMIM:603218", "gene": {"id": "5621", "symbol": "PRNP"}}, {"disease_id": "ORPHA:247585", "gene": {"id": "10165", "symbol": "SLC25A13"}}], "def": "A state of abnormally elevated or irritable mood, arousal, and/or energy levels. []", "hp": "HP:0100754", "name": "Mania", "synonym": {"exact": ["Hypomania", "Hypomanic", "Manic"]}, "xrefs": {"snomedct_us": ["231494001"], "umls": ["C0338831"]}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": null}, "MONDO:0003757": {"categories": ["biolink:BiologicalEntity", "biolink:Disease", "biolink:ThingWithTaxon", "biolink:NamedThing", "biolink:DiseaseOrPhenotypicFeature"], "name": "paraplegia", "attributes": [{"attribute_type_id": "biolink:Attribute", "value": 100.0, "value_type_id": null, "original_attribute_name": "information_content", "value_url": null, "attribute_source": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:Attribute", "value": true, "value_type_id": null, "original_attribute_name": "MONDO_SUPERCLASS_palsy", "value_url": null, "attribute_source": null, "description": null, 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It consists of immunologically active substances, white blood cells, water, protein, fat, and carbohydrates.", "value_type_id": "dct:description", "original_attribute_name": "description", "value_url": null, "attribute_source": null, "description": null, "attributes": null}], "is_set": null}, "MONDO:0017884": {"categories": ["biolink:Disease"], "name": "papillary renal cell carcinoma", "attributes": [{"attribute_type_id": "biolink:description", "value": "The presence of renal cell carcinoma in the renal papilla. [HPO:probinson]; Also known as chromophil carcinoma, it represents a minority of renal cell carcinomas. It can be hereditary or sporadic. The sporadic papillary renal cell carcinoma is characterized by trisomy of chromosomes 7, 16, and 17, and loss of chromosome Y. The peak incidence is in the sixth and seven decades. It is classified as type 1 or 2, based on the cytoplasmic volume and the thickness of the lining neoplastic cells. The prognosis is more favorable than for conventional (clear cell) renal cell carcinoma.; Also known as chromophil carcinoma, it represents a minority of renal cell carcinomas. It can be hereditary or sporadic. The sporadic papillary renal cell carcinoma is characterized by trisomy of chromosomes 7, 16, and 17, and loss of chromosome Y. The peak incidence is in the sixth and seven decades. It is classified as type 1 or 2, based on the cytoplasmic volume and the thickness of the lining neoplastic cells. The prognosis is more favorable than for conventional (clear cell) renal cell carcinoma. -- 2003 Check for \"https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C6975\" active clinical trials using this agent. (\"http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C6975\" NCI Thesaurus); UMLS Semantic Type: STY:T191", "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:synonym", "value": ["Papillary renal cell carcinoma", "Sporadic Papillary Renal Cell Carcinoma", "Papillary renal cell carcinoma, familial", "Papillary Renal Cell Carcinoma", "Papillary renal cell carcinoma, sporadic", "papillary renal cell carcinoma"], "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "value": "http://purl.obolibrary.org/obo/MONDO_0017884", "value_type_id": "metatype:Uri", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}], "is_set": null}, "UBERON:0002078": {"categories": ["biolink:AnatomicalEntity", "biolink:GrossAnatomicalStructure"], "name": "Right Atrium", "attributes": [{"attribute_type_id": "biolink:description", "value": "A cardiac atrium that is in the right side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve. // Right cardiac chamber which is continuous with the superior vena cava and inferior vena cava.[FMA]; A cardiac atrium that is in the right side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve.; A cardiac atrium that is in the right side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve.; ; A cardiac atrium that is in the right side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve.; ", "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:IriType", "value": "http://purl.obolibrary.org/obo/UBERON_0002078", "value_type_id": "metatype:Uri", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:synonym", "value": ["Right cardiac atrium", "right atrium", "right cardiac atrium", "Right atrium", "Right atrial structure", "Right Atrium"], "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}], "is_set": null}, "UBERON:0002079": {"categories": ["biolink:AnatomicalEntity", "biolink:GrossAnatomicalStructure"], "name": "Left Atrium", "attributes": [{"attribute_type_id": "biolink:IriType", "value": "http://purl.obolibrary.org/obo/UBERON_0002079", "value_type_id": "metatype:Uri", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:synonym", "value": ["left cardiac atrium", "left atrium", "Left atrium", "Left atrial structure", "Left cardiac atrium", "Left Atrium"], "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:description", "value": "A cardiac atrium that is in the left side of the heart. It receives oxygenated blood from the pulmonary veins, In mammals this is pumped into the left ventricle, via the Mitral valve. // Left cardiac chamber which is continuous with the pulmonary venous trunk.[FMA] // The chamber of the heart that receives blood from the lungs[XAO:EJS].; A cardiac atrium that is in the left side of the heart. It receives oxygenated blood from the pulmonary veins, In mammals this is pumped into the left ventricle, via the Mitral valve.; A cardiac atrium that is in the left side of the heart. It receives oxygenated blood from the pulmonary veins, In mammals this is pumped into the left ventricle, via the Mitral valve.; ; A cardiac atrium that is in the left side of the heart. 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Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics.; The term \"isoenzyme\" or \"isozyme\" refers to variants of the same enzyme which can be separated on special conducting media using electrophoresis. It should apply only to those multiple forms of enzymes arising from genetically determined differences in primary structure and not to those derived by modification of the same primary sequence.; UMLS Semantic Type: STY:T116; UMLS Semantic Type: STY:T126", "value_type_id": "metatype:String", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}, {"attribute_type_id": "biolink:IriType", "value": "http://id.nlm.nih.gov/mesh/D007527", "value_type_id": "metatype:Uri", "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": null}], "is_set": null}, "UMLS:C0342257": {"name": "Complications of Diabetes Mellitus", "categories": ["biolink:Disease"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["Diabetes Complication", "Diabetes Complications"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "https://identifiers.org/umls:C0342257", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "
NIH: National Institute of Diabetes and Digestive and Kidney Diseases; UMLS Semantic Type: STY:T047;
NIH: National Institute of Diabetes and Digestive and Kidney Diseases; Conditions or pathological processes associated with the disease of diabetes mellitus. Due to the impaired control of BLOOD GLUCOSE level in diabetic patients, pathological processes develop in numerous tissues and organs including the EYE, the KIDNEY, the BLOOD VESSELS, and the NERVE TISSUE.; Organ or tissue damage due to diabetes mellitus. It includes heart disease and stroke, renal disease and renal failure, retinopathy, neuropathies, and erectile dysfunction.; UMLS Semantic Type: STY:T047", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}], "is_set": false}, "MONDO:0004946": {"name": "hypoglycemia", "categories": ["biolink:Disease"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["hypoglycemia", "Hypoglycemia", "Hypoglycemia, unspecified"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/MONDO_0004946", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include : Hunger Shakiness Dizziness Confusion Difficulty speaking Feeling anxious or weak In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases; UMLS Semantic Type: STY:T047; UMLS Semantic Type: STY:T047; A decreased concentration of glucose in the blood. [HPO:curators]; Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include : Hunger Shakiness Dizziness Confusion Difficulty speaking Feeling anxious or weak In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases; A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH.; Abnormally low level of glucose in the blood.; UMLS Semantic Type: STY:T047", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "MONDO:0004946", "_id": "MONDO:0004946", "_score": 9.827722, "disease_ontology": {"_license": "https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt", "def": "\"A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.\" [url:https\\://www.niddk.nih.gov/health-information/diabetes/overview/preventing-problems/low-blood-glucose-hypoglycemia]", "doid": "DOID:9993", "name": "hypoglycemia", "synonyms": {"exact": ["Hypoglycaemia"]}, "xrefs": {"icd10": "E16.2", "icd9": "251.2", "mesh": "D007003", "ncit": "C3126", "snomedct_us_2023_03_01": "154691006", "umls_cui": "C0020615"}}, "mondo": {"mondo": "MONDO:0004946", "synonym": {"exact": ["blood glucose, Low", "glucose, Low blood", "hypoglycaemia", "low blood glucose"]}, "xrefs": {"doid": ["DOID:9993"], "icd9": ["251.1", "251.2"], "medgen": ["6979"], "mesh": ["D007003"], "ncit": ["C3126"], "sctid": ["302866003"], "umls": ["C0020615"]}}, "umls": {"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C0020615"}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "UMLS:C0241863": {"name": "Diabetic", "categories": ["biolink:PhenotypicFeature", "biolink:DiseaseOrPhenotypicFeature"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["diabetic"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "https://identifiers.org/umls:C0241863", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "UMLS Semantic Type: STY:T033", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}], "is_set": false}, "MONDO:0002909": {"name": "hyperglycemia", "categories": ["biolink:Disease"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["hyperglycemia", "Hyperglycemia"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/MONDO_0002909", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Hyperglycemia means high blood sugar or glucose. Glucose comes from the foods you eat. Insulin is a hormone that moves glucose into your cells to give them energy. Hyperglycemia happens when your body doesn't make enough insulin or can't use it the right way. People with diabetes can get hyperglycemia from not eating the right foods or not taking medicines correctly. Other problems that can raise blood sugar include infections, certain medicines, hormone imbalances, or severe illnesses.; UMLS Semantic Type: STY:T047; An increased concentration of glucose in the blood. [HPO:probinson]; Hyperglycemia means high blood sugar or glucose. Glucose comes from the foods you eat. Insulin is a hormone that moves glucose into your cells to give them energy. Hyperglycemia happens when your body doesn't make enough insulin or can't use it the right way. People with diabetes can get hyperglycemia from not eating the right foods or not taking medicines correctly. Other problems that can raise blood sugar include infections, certain medicines, hormone imbalances, or severe illnesses.; Abnormally high BLOOD GLUCOSE level.; Abnormally high level of glucose in the blood.; A high level of blood sugar. It is usually an indication of diabetes mellitus. --2003 Check for \"https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C26797\" active clinical trials using this agent. (\"http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C26797\" NCI Thesaurus); UMLS Semantic Type: STY:T047", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "MONDO:0002909", "_id": "MONDO:0002909", "_score": 9.827722, "disease_ontology": {"_license": "https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt", "def": "", "doid": "DOID:4195", "name": "hyperglycemia", "synonyms": {}, "xrefs": {"icd10": "R73.9", "mesh": "D006943", "ncit": "C26797", "snomedct_us_2023_03_01": "144187006", "umls_cui": "C0020456"}}, "mondo": {"mondo": "MONDO:0002909", "xrefs": {"doid": ["DOID:4195"], "icd9": ["790.6"], "medgen": ["5689"], "mesh": ["D006943"], "sctid": ["80394007"], "umls": ["C0020456"]}}, "umls": {"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C0020456"}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:1576": {"name": "CYP3A4", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["CYP3A4", "CYP3A4 Gene", "CYP3A4 gene", "cytochrome P450 3A4 (human)", "CYP3A4 [endoplasmic reticulum membrane]", "cyp3a4"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/1576", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "A cytochrome P450 monooxygenase involved in the metabolism of sterols, steroid hormones, retinoids and fatty acidsMechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bondsExhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2-hydroxy E1 and E2, as well as D-ring hydroxylated E1 and E2 at the C-16 positionPlays a role in the metabolism of androgens, particularly in oxidative deactivation of testosteroneMetabolizes testosterone to less biologically active 2beta- and 6beta-hydroxytestosteronesContributes to the formation of hydroxycholesterols (oxysterols), particularly A-ring hydroxylated cholesterol at the C-4beta position, and side chain hydroxylated cholesterol at the C-25 position, likely contributing to cholesterol degradation and bile acid biosynthesisCatalyzes bisallylic hydroxylation of polyunsaturated fatty acids (PUFA)Catalyzes the epoxidation of double bonds of PUFA with a preference for the last double bondMetabolizes endocannabinoid arachidonoylethanolamide (anandamide) to 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signalingPlays a role in the metabolism of retinoids. Displays high catalytic activity for oxidation of all-trans-retinol to all-trans-retinal, a rate-limiting step for the biosynthesis of all-trans-retinoic acid (atRA)Further metabolizes atRA toward 4-hydroxyretinoate and may play a role in hepatic atRA clearanceResponsible for oxidative metabolism of xenobiotics. Acts as a 2-exo-monooxygenase for plant lipid 1,8-cineole (eucalyptol)Metabolizes the majority of the administered drugs. Catalyzes sulfoxidation of the anthelmintics albendazole and fenbendazoleHydroxylates antimalarial drug quinineActs as a 1,4-cineole 2-exo-monooxygenaseAlso involved in vitamin D catabolism and calcium homeostasis. Catalyzes the inactivation of the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D(3)). Belongs to the cytochrome P450 family.", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["DOI:10.1067/mcp.2000.104391", "DOI:10.1016/j.abb.2008.12.001", "PMID:15258162", "DOI:10.1089/dna.1988.7.79", "DOI:10.1053/meta.2001.25592", "PMID:15256616", "PMID:18545703", "DOI:10.1194/jlr.m014084", "DOI:10.1124/dmd.109.027011", "DOI:10.1172/jci98680"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "1576", "HGNC": "2637", "MIM": "124010", "_id": "1576", "_score": 27.226904, "alias": ["CP33", "CP34", "CYP3A", "CYP3A3", "CYPIIIA3", "CYPIIIA4", "HLP", "NF-25", "P450C3", "P450PCN1", "VDDR3"], "go": {"BP": [{"evidence": "IDA", "gocategory": "BP", "id": "GO:0002933", "pubmed": 14559847, "qualifier": "involved_in", 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"gocategory": "BP", "id": "GO:0006805", "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0008202", "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0008202", "pubmed": 14559847, "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008202", "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0008202", "pubmed": 3259858, "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008203", "qualifier": "involved_in", "term": "cholesterol metabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0008209", "pubmed": 19651758, "qualifier": "involved_in", "term": "androgen metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0008210", "pubmed": [11555828, 12865317, 14559847], "qualifier": "involved_in", "term": "estrogen metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008210", "qualifier": "involved_in", "term": "estrogen metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0009822", "pubmed": 15039299, "qualifier": "involved_in", "term": "alkaloid catabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0009822", "qualifier": "involved_in", "term": "alkaloid catabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0016098", "pubmed": 16401082, "qualifier": "involved_in", "term": "monoterpenoid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0036378", "qualifier": "involved_in", "term": "calcitriol biosynthetic process from calciol"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042178", "pubmed": [15039299, 15327587, 18619574], "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0042178", "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0042178", "pubmed": 18356043, "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042359", "pubmed": 15546903, "qualifier": "involved_in", "term": "vitamin D metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042369", "pubmed": 29461981, "qualifier": "involved_in", "term": "vitamin D catabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042572", "pubmed": 10681376, "qualifier": "involved_in", "term": "retinol metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0042572", "qualifier": "involved_in", "term": "retinol metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042573", "pubmed": 11093772, "qualifier": "involved_in", "term": "retinoic acid metabolic process"}, {"evidence": "IEA", 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"qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "ISS", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0004497", "pubmed": 2492107, "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0005496", "pubmed": 15256616, "qualifier": "enables", "term": "steroid binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0005506", "pubmed": 15256616, "qualifier": "enables", "term": "iron ion binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0005506", "qualifier": "enables", "term": "iron ion binding"}, {"category": "MF", "evidence": "IPI", "id": "GO:0005515", "pubmed": [26988023, 32814053], "qualifier": "enables", "term": "protein binding"}, {"category": "MF", "evidence": "IMP", "id": "GO:0008395", "pubmed": 18356043, "qualifier": "enables", "term": "steroid hydroxylase activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0008395", "qualifier": "enables", "term": "steroid hydroxylase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0008401", "pubmed": 11093772, "qualifier": "enables", "term": "retinoic acid 4-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008401", "qualifier": "enables", "term": "retinoic acid 4-hydroxylase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0016491", "pubmed": [15039299, 16401082, 19219744], "qualifier": "enables", "term": "oxidoreductase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016491", "qualifier": "enables", "term": "oxidoreductase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016705", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016712", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen"}, {"category": "MF", "evidence": "IEA", "id": "GO:0019825", "qualifier": "enables", "term": "oxygen binding"}, {"category": "MF", "evidence": "TAS", "id": "GO:0019825", "pubmed": [2492107, 3460094], "qualifier": "enables", "term": "oxygen binding"}, {"category": "MF", "evidence": "IPI", "id": "GO:0019899", "pubmed": 15680923, "qualifier": "enables", "term": "enzyme binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0020037", "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0030343", "pubmed": 15546903, "qualifier": "enables", "term": "vitamin D3 25-hydroxylase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0034875", "pubmed": 18619574, "qualifier": "enables", "term": "caffeine oxidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0046872", "qualifier": "enables", "term": "metal ion binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0050591", "qualifier": "enables", "term": "quinine 3-monooxygenase activity"}, {"category": "MF", "evidence": "IBA", "id": "GO:0050649", "qualifier": "enables", "term": "testosterone 6-beta-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0050649", "qualifier": "enables", "term": "testosterone 6-beta-hydroxylase activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0050649", "pubmed": 3259858, "qualifier": "enables", "term": "testosterone 6-beta-hydroxylase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0062181", "pubmed": 29461981, "qualifier": "enables", "term": "1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0062187", "qualifier": "enables", "term": "anandamide 8,9 epoxidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0062188", "qualifier": "enables", "term": "anandamide 11,12 epoxidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0062189", "qualifier": "enables", "term": "anandamide 14,15 epoxidase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0070576", "pubmed": 15546903, "qualifier": "enables", "term": "vitamin D 24-hydroxylase activity"}, {"category": "MF", "evidence": "IBA", "id": "GO:0101020", "qualifier": "enables", "term": "estrogen 16-alpha-hydroxylase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0101020", "pubmed": [11555828, 14559847], "qualifier": "enables", "term": "estrogen 16-alpha-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0101020", "qualifier": "enables", "term": "estrogen 16-alpha-hydroxylase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0101021", "pubmed": 12865317, "qualifier": "enables", "term": "estrogen 2-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0101021", "qualifier": "enables", "term": "estrogen 2-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0102320", "qualifier": "enables", "term": "1,8-cineole 2-exo-monooxygenase activity"}]}, "interpro": [{"desc": "Cytochrome P450", "id": "IPR001128", "short_desc": "Cyt_P450"}, {"desc": "Cytochrome P450, E-class, group II", "id": "IPR002402", "short_desc": "Cyt_P450_E_grp-II"}, {"desc": "Cytochrome P450, E-class, CYP3A", "id": "IPR008072", "short_desc": "Cyt_P450_E_CYP3A"}, {"desc": "Cytochrome P450 superfamily", "id": "IPR036396", "short_desc": "Cyt_P450_sf"}, {"desc": "Cytochrome P450 3A", "id": "IPR050705", "short_desc": "Cytochrome_P450_3A"}, {"desc": "Cytochrome P450, conserved site", "id": "IPR017972", "short_desc": "Cyt_P450_CS"}, {"desc": "Cytochrome P450, E-class, group I", "id": "IPR002401", "short_desc": "Cyt_P450_E_grp-I"}], "name": "cytochrome P450 family 3 subfamily A member 4", "pharos": {"target_id": 16126, "tdl": "Tclin"}, "summary": "This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam, erythromycin, and chloroquine. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2020].", "symbol": "CYP3A4", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "UMLS:C1524026": {"name": "Metabolic Process, Cellular", "categories": ["biolink:BiologicalProcess"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["Metabolic Process, Cellular"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "https://identifiers.org/umls:C1524026", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "The chemical reactions and pathways by which individual cells transform chemical substances. [GOC:go_curators]; Organic processes in a cell or organism that are necessary to sustain life. Cellular metabolism can be divided into two categories. Anabolism entails the construction of complex organic molecules from simpler precursors, while catabolism involves the breakdown of complex substances into simpler molecules.; UMLS Semantic Type: STY:T043", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}], "is_set": false}, "NCBIGene:1565": {"name": "CYP2D6", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["CYP2D6 Gene", "cytochrome P450 2D6 (human)", "CYP2D6 protein, human", "cyp2d6", "CYP2D6", "CYP2D6 [endoplasmic reticulum membrane]", "Cytochrome P450 2D6, human", "CYP2D6 gene"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/1565", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Cytochrome P450 2D6 (497 aa, ~56 kDa) is encoded by the human CYP2D6 gene. This protein plays a role in flavoprotein metabolism.; UMLS Semantic Type: STY:T116; UMLS Semantic Type: STY:T126", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["PMID:8655150", "PMID:21289075", "DOI:10.1007/bf00178963", "PMID:1844820", "DOI:10.1517/14622416.5.7.895", "DOI:10.1016/0888-7543(88)90100-0", "DOI:10.1124/jpet.108.141796", "PMID:3123997", "PMID:8971426", "DOI:10.1194/jlr.m014084"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "1565", "HGNC": "2625", "MIM": "124030", "_id": "1565", "_score": 8.782872, "alias": ["CPD6", "CYP2D", "CYP2D7AP", "CYP2D7BP", "CYP2D7P2", "CYP2D8P2", "CYP2DL1", "CYPIID6", "P450-DB1", "P450C2D", "P450DB1"], "go": {"BP": [{"evidence": "IEA", "gocategory": "BP", "id": "GO:0006629", "qualifier": "involved_in", "term": "lipid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006631", "qualifier": "involved_in", "term": "fatty acid metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0006805", "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0006805", "pubmed": 19219744, "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0006805", "pubmed": 18356043, "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0006805", "pubmed": 19438707, "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008202", "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0008202", "pubmed": 18356043, "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008203", "qualifier": "involved_in", "term": "cholesterol metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0008210", "pubmed": 12865317, "qualifier": "involved_in", "term": "estrogen metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0009804", "pubmed": 19438707, "qualifier": "involved_in", "term": "coumarin metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0009820", "pubmed": 19651758, "qualifier": "involved_in", "term": "alkaloid metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0009822", "pubmed": 15039299, "qualifier": "involved_in", "term": "alkaloid catabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0016098", "pubmed": 16401082, "qualifier": "involved_in", "term": "monoterpenoid metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0019369", "qualifier": "involved_in", "term": "arachidonate metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0033076", "pubmed": 19448135, "qualifier": "involved_in", "term": "isoquinoline alkaloid metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042178", "pubmed": 15039299, "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042572", "pubmed": 10681376, "qualifier": "involved_in", "term": "retinol metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0042572", "qualifier": "involved_in", "term": "retinol metabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0042759", "qualifier": "involved_in", "term": "long-chain fatty acid biosynthetic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0070989", "pubmed": [15039299, 19438707], "qualifier": "involved_in", "term": "oxidative demethylation"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0090350", "pubmed": 19448135, "qualifier": "involved_in", "term": "negative regulation of organofluorine metabolic process"}], "MF": [{"category": "MF", "evidence": "IDA", "id": "GO:0004497", "pubmed": [15327587, 19651758], "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0005506", "qualifier": "enables", "term": "iron ion binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0016491", "pubmed": [15039299, 16401082, 19219744], "qualifier": "enables", "term": "oxidoreductase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016491", "qualifier": "enables", "term": "oxidoreductase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016705", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen"}, {"category": "MF", "evidence": "IBA", "id": "GO:0016712", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016712", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen"}, {"category": "MF", "evidence": "TAS", "id": "GO:0016712", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen"}, {"category": "MF", "evidence": "IBA", "id": "GO:0020037", "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0020037", "pubmed": 16352597, "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0020037", "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0046872", "qualifier": "enables", "term": "metal ion binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0062187", "pubmed": 21289075, "qualifier": "enables", "term": "anandamide 8,9 epoxidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0062187", "qualifier": "enables", "term": "anandamide 8,9 epoxidase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0062188", "pubmed": 21289075, "qualifier": "enables", "term": "anandamide 11,12 epoxidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0062188", "qualifier": "enables", "term": "anandamide 11,12 epoxidase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0062189", "pubmed": 21289075, "qualifier": "enables", "term": "anandamide 14,15 epoxidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0062189", "qualifier": "enables", "term": "anandamide 14,15 epoxidase activity"}]}, "interpro": [{"desc": "Cytochrome P450", "id": "IPR001128", "short_desc": "Cyt_P450"}, {"desc": "Cytochrome P450, E-class, group I", "id": "IPR002401", "short_desc": "Cyt_P450_E_grp-I"}, {"desc": "Cytochrome P450, E-class, group I, CYP2D-like", "id": "IPR008069", "short_desc": "Cyt_P450_E_grp-I_CYP2D-like"}, {"desc": "Cytochrome P450, conserved site", "id": "IPR017972", "short_desc": "Cyt_P450_CS"}, {"desc": "Cytochrome P450 superfamily", "id": "IPR036396", "short_desc": "Cyt_P450_sf"}, {"desc": "Cytochrome P450 family 2", "id": "IPR050182", "short_desc": "Cytochrome_P450_fam2"}], "name": "cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)", "pharos": {"target_id": 13954, "tdl": "Tclin"}, "summary": "This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014].", "symbol": "CYP2D6", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:1559": {"name": "CYP2C9", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["cytochrome P450 2C9 (human)", "cyp2c9", "CYP2C9 [endoplasmic reticulum membrane]", "CYP2C9", "CYP2C9 Gene", "CYP2C9 gene"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/1559", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "This gene is involved in the oxidation of drugs, xenobiotics, fatty acids and steroids.; UMLS Semantic Type: STY:T028", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["PMID:12861225", "PMID:25994031", "PMID:12865317", "DOI:10.1038/nature02462", "PMID:24956244", "DOI:10.1517/14622416.5.7.895", "PMID:3196692", "DOI:10.1006/abbi.1993.1536", "PMID:3243766", "PMID:1857342"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "1559", "HGNC": "2623", "MIM": "601130", "_id": "1559", "_score": 27.226904, "alias": ["CPC9", "CYP2C", "CYP2C10", "CYPIIC9", "P450-2C9", "P450IIC9"], "go": {"BP": [{"evidence": "IEA", "gocategory": "BP", "id": "GO:0006629", "qualifier": "involved_in", "term": "lipid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006721", "qualifier": "involved_in", "term": "terpenoid metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0006805", "pubmed": [19219744, 19651758], "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0006805", "pubmed": 21127708, "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0006805", "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008202", "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0008202", "pubmed": 18356043, "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008203", "qualifier": "involved_in", "term": "cholesterol metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0008210", "pubmed": 12865317, "qualifier": "involved_in", "term": "estrogen metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0016098", "pubmed": 16401082, "qualifier": "involved_in", "term": "monoterpenoid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0019369", "qualifier": "involved_in", "term": "arachidonate metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0019373", "qualifier": "involved_in", "term": "epoxygenase P450 pathway"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0019373", "pubmed": 7574697, "qualifier": "involved_in", "term": "epoxygenase P450 pathway"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0019373", "qualifier": "involved_in", "term": "epoxygenase P450 pathway"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0019627", "pubmed": 19029318, "qualifier": "involved_in", "term": "urea metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0032787", "pubmed": 19651758, "qualifier": "involved_in", "term": "monocarboxylic acid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0032787", "qualifier": "involved_in", "term": "monocarboxylic acid metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0042178", "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042178", "pubmed": 18619574, "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0042178", "pubmed": 18356043, "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0042759", "qualifier": "involved_in", "term": "long-chain fatty acid biosynthetic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0046456", "pubmed": 15766564, "qualifier": "involved_in", "term": "icosanoid biosynthetic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0070989", "pubmed": 18619574, "qualifier": "involved_in", "term": "oxidative demethylation"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0090346", "pubmed": 19448135, "qualifier": "involved_in", "term": "organofluorine metabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0097267", "qualifier": "involved_in", "term": "omega-hydroxylase P450 pathway"}], "MF": [{"category": "MF", "evidence": "IDA", "id": "GO:0004497", "pubmed": [15766564, 19651758], "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "NAS", "id": "GO:0004497", "pubmed": 2827463, "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0005506", "qualifier": "enables", "term": "iron ion binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0008392", "pubmed": 7574697, "qualifier": "enables", "term": "arachidonate epoxygenase activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0008395", "pubmed": 18356043, "qualifier": "enables", "term": "steroid hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008404", "qualifier": "enables", "term": "arachidonate 14,15-epoxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008405", "qualifier": "enables", "term": "arachidonate 11,12-epoxygenase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0016491", "pubmed": [16401082, 19219744], "qualifier": "enables", "term": "oxidoreductase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016491", "qualifier": "enables", "term": "oxidoreductase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016705", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen"}, {"category": "MF", "evidence": "IBA", "id": "GO:0016712", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016712", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen"}, {"category": "MF", "evidence": "IEA", "id": "GO:0018675", "qualifier": "enables", "term": "(S)-limonene 6-monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0018676", "qualifier": "enables", "term": "(S)-limonene 7-monooxygenase activity"}, {"category": "MF", "evidence": "IBA", "id": "GO:0020037", "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0020037", "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0034875", "pubmed": 18619574, "qualifier": "enables", "term": "caffeine oxidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0046872", "qualifier": "enables", "term": "metal ion binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0052741", "qualifier": "enables", "term": "(R)-limonene 6-monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0101021", "qualifier": "enables", "term": "estrogen 2-hydroxylase activity"}]}, "interpro": [{"desc": "Cytochrome P450", "id": "IPR001128", "short_desc": "Cyt_P450"}, {"desc": "Cytochrome P450, E-class, group I", "id": "IPR002401", "short_desc": "Cyt_P450_E_grp-I"}, {"desc": "Cytochrome P450, conserved site", "id": "IPR017972", "short_desc": "Cyt_P450_CS"}, {"desc": "Cytochrome P450 superfamily", "id": "IPR036396", "short_desc": "Cyt_P450_sf"}, {"desc": "Cytochrome P450 family 2", "id": "IPR050182", "short_desc": "Cytochrome_P450_fam2"}], "name": "cytochrome P450 family 2 subfamily C member 9", "pharos": {"target_id": 11018, "tdl": "Tchem"}, "summary": "This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008].", "symbol": "CYP2C9", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:1558": {"name": "CYP2C8", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["CYP2C8 Gene", "CYP2C8 [endoplasmic reticulum membrane]", "CYP2C8 gene", "cytochrome P450 2C8 (human)", "CYP2C8"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/1558", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "This gene plays a role in drug metabolism. It is also involved in the oxidation of both endobiotics and xenobiotics.; UMLS Semantic Type: STY:T028", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["DOI:10.1038/nature02462", "PMID:3196692", "DOI:10.1517/14622416.5.7.895", "DOI:10.1016/0167-4781(91)90138-c", "DOI:10.1111/j.1469-1809.1989.tb01119.x", "PMID:14559847", "DOI:10.1021/bi00418a039", "PMID:2729895", "DOI:10.1074/jbc.m802180200", "DOI:10.1016/j.bbrc.2005.02.103"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "1558", "HGNC": "2622", "MIM": "601129", "_id": "1558", "_score": 27.226904, "alias": ["CPC8", "CYP2C8DM", "CYPIIC8", "MP-12/MP-20"], "go": {"BP": [{"evidence": "IDA", "gocategory": "BP", "id": "GO:0002933", "pubmed": 14559847, "qualifier": "involved_in", "term": "lipid hydroxylation"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0006082", "pubmed": 19651758, "qualifier": "involved_in", "term": "organic acid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006629", "qualifier": "involved_in", "term": "lipid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006721", "qualifier": "involved_in", "term": "terpenoid metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0006805", "pubmed": 19651758, "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0006805", "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0008202", "pubmed": 14559847, "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008202", "qualifier": "involved_in", "term": "steroid 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"MF", "evidence": "IDA", "id": "GO:0004497", "pubmed": [15766564, 19651758], "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0005506", "qualifier": "enables", "term": "iron ion binding"}, {"category": "MF", "evidence": "IPI", "id": "GO:0005515", "pubmed": 32814053, "qualifier": "enables", "term": "protein binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0008392", "pubmed": 7574697, "qualifier": "enables", "term": "arachidonate epoxygenase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0008401", "pubmed": 11093772, "qualifier": "enables", "term": "retinoic acid 4-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016491", "qualifier": "enables", "term": 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binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0034875", "pubmed": 18619574, "qualifier": "enables", "term": "caffeine oxidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0046872", "qualifier": "enables", "term": "metal ion binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0101020", "pubmed": 14559847, "qualifier": "enables", "term": "estrogen 16-alpha-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0101020", "qualifier": "enables", "term": "estrogen 16-alpha-hydroxylase activity"}]}, "interpro": [{"desc": "Cytochrome P450", "id": "IPR001128", "short_desc": "Cyt_P450"}, {"desc": "Cytochrome P450, E-class, group I", "id": "IPR002401", "short_desc": "Cyt_P450_E_grp-I"}, {"desc": "Cytochrome P450 superfamily", "id": "IPR036396", "short_desc": "Cyt_P450_sf"}, {"desc": "Cytochrome P450 family 2", "id": "IPR050182", "short_desc": "Cytochrome_P450_fam2"}, {"desc": "Cytochrome P450, conserved site", "id": "IPR017972", "short_desc": "Cyt_P450_CS"}], "name": "cytochrome P450 family 2 subfamily C member 8", "pharos": {"target_id": 13958, "tdl": "Tchem"}, "summary": "This gene encodes a member of the cytochrome P450 superfamily of enzymes. 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[provided by RefSeq, Nov 2010].", "symbol": "CYP2C8", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "CHEBI:8228": {"name": "Pioglitazone", "categories": ["biolink:SmallMolecule", "biolink:MolecularMixture", "biolink:Drug", "biolink:ChemicalEntity"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["pioglitazone 30 MG Oral Tablet", "Actos", "pioglitazone 30 MG [Actos]", "pioglitazone 15 MG Oral Tablet [Actos]", "Pioglitazone hydrochloride (JP18/USP)", "PIOGLITAZONE", "pioglitazone", "Pioglitazone hydrochloride", "pioglitazone 15 MG [Actos]", "Actos Oral Product", "pioglitazone 15 MG Oral Tablet", "pioglitazone 30 MG Oral Tablet [Actos]", "pioglitazone Oral Tablet", "pioglitazone 45 MG [Actos]", "pioglitazone 30 MG", "pioglitazone 15 MG", "Pioglitazone Hydrochloride", "PIOGLITAZONE HYDROCHLORIDE", "pioglitazone hydrochloride", "pioglitazone 45 MG Oral Tablet", "pioglitazone 45 MG", "pioglitazone Pill", "pioglitazone Oral Product", "pioglitazone Oral Tablet [Actos]", "Pioglitazone (INN)", "pioglitazone 45 MG Oral Tablet [Actos]", "Pioglitazone", "actos", "Actos Pill"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/CHEBI_8228", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "UMLS Semantic Type: STY:T109; UMLS Semantic Type: STY:T121; Pioglitazone is an antihyperglycemic used as an adjunct to diet, exercise, and other antidiabetic medications to manage type 2 diabetes mellitus.[L11416,L11419,L11422,L11425] It is administered as a racemic mixture, though there is no pharmacologic difference between the enantiomers and they appear to interconvert _in vivo_ with little consequence.[L11416] The thiazolidinedione class of medications, which also includes [rosiglitazone] and [troglitazone], exerts its pharmacological effect primarily by promoting insulin sensitivity and the improved uptake of blood glucose[L11416] via agonism at the peroxisome proliferator-activated receptor-gamma (PPAR\u03b3).[A19757] PPARs are ligand-activated transcription factors that are involved in the expression of more than 100 genes and affect numerous metabolic processes, most notably lipid and glucose homeostasis.[A19759] Thiazolidinediones, including pioglitazone, have fallen out of favor in recent years due to the presence of multiple adverse effects and warnings regarding their use (e.g. congestive heart failure, bladder cancer) and the availability of safer and more effective alternatives for patients with type 2 diabetes mellitus.[L11461]", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["PMID:26595749", "PMID:25333853", "PMID:31128991", "PMID:28845983", "PMID:22424975", "PMID:21467212", "PMID:22608392", "PMID:34718128", "PMID:24799086", "PMID:24597776"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "CHEBI:8228", "_id": "HYAFETHFCAUJAY-UHFFFAOYSA-N", "_score": 10.743014, "chebi": {"_license": "http://bit.ly/2KAUCAm", "definition": "A member of the class of thiazolidenediones that is 1,3-thiazolidine-2,4-dione substituted by a benzyl group at position 5 which in turn is substituted by a 2-(5-ethylpyridin-2-yl)ethoxy group at position 4 of the phenyl ring. It exhibits hypoglycemic activity.", "id": "CHEBI:8228", "iupac": "5-{4-[2-(5-ethylpyridin-2-yl)ethoxy]benzyl}-1,3-thiazolidine-2,4-dione", "name": "pioglitazone", "relationship": {"has_role": ["CHEBI:50864", "CHEBI:77194", "CHEBI:35703", "CHEBI:83157", "CHEBI:173084", "CHEBI:77307", "CHEBI:71554", "CHEBI:35469", "CHEBI:176497", "CHEBI:35526"]}}, "chembl": {"_license": "http://bit.ly/2KAUCAm", "atc_classifications": "A10BG03", "availability_type": 1, "drug_indications": [{"efo": [{"id": "MONDO:0015339", "term": "adrenomyeloneuropathy"}, {"id": "Orphanet:43", "term": "X-linked adrenoleukodystrophy"}], "first_approval": 1999, "indication_refs": [{"ClinicalTrials": "NCT03864523", "id": "NCT03864523", "type": "ClinicalTrials", "url": "https://clinicaltrials.gov/search?term=NCT03864523"}], "max_phase_for_ind": "2.0", "mesh_heading": "Adrenoleukodystrophy", "mesh_id": "MESH:D000326"}, {"efo": [{"id": "MONDO:0007079", "term": "alcohol dependence"}], "first_approval": 1999, "indication_refs": 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"source_record_urls": ["https://db.systemsbiology.net/gestalt/cgi-pub/KGinfo.pl?id=dc3fea55-1c63-33a3-95c9-233b1cec77e9"], "status": "UNKNOWN", "study_size": 64, "tested_intervention": "unsure"}, {"disease": {"name": "Metastatic Malignant Solid Neoplasm", "umls": "UMLS:C4287832"}, "id": "NCT02133625", "label": "biolink:mentioned_in_trials_for", "phase": "clinical_trial_phase_1", "source_record_urls": ["https://db.systemsbiology.net/gestalt/cgi-pub/KGinfo.pl?id=cdcfb37e-edb3-34dd-844c-7be045c8cdd1"], "status": "COMPLETED", "study_size": 28, "tested_intervention": "unsure"}, {"disease": {"name": "Advanced Malignant Solid Neoplasm", "umls": "UMLS:C4329281"}, "id": "NCT02133625", "label": "biolink:mentioned_in_trials_for", "phase": "clinical_trial_phase_1", "source_record_urls": ["https://db.systemsbiology.net/gestalt/cgi-pub/KGinfo.pl?id=1897ff20-c187-35e7-8896-dfd932f034aa"], "status": "COMPLETED", "study_size": 28, "tested_intervention": "unsure"}]}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:213": {"name": "ALB", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["ALB gene", "ALB protein, human", "acetyl-ALB [extracellular region]", "ALB [platelet alpha granule lumen]", "ALB", "ALB [endoplasmic reticulum lumen]", "salicyl-ALB [extracellular region]", "p-ALB [endoplasmic reticulum lumen]", "albumin (human)", "ALB [extracellular region]", "ALB(19-609) [extracellular region]"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/213", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Binds water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs (Probable). Its main function is the regulation of the colloidal osmotic pressure of blood (Probable). Major zinc transporter in plasma, typically binds about 80% of all plasma zincMajor calcium and magnesium transporter in plasma, binds approximately 45% of circulating calcium and magnesium in plasma (By similarity). Potentially has more than two calcium-binding sites and might additionally bind calcium in a non-specific manner (By similarity). The shared binding site between zinc and calcium at residue Asp-273 suggests a crosstalk between zinc and calcium transport in the blood (By similarity). The rank order of affinity is zinc > calcium > magnesium (By similarity). Binds to the bacterial siderophore enterobactin and inhibits enterobactin-mediated iron uptake of E.coli from ferric transferrin, and may thereby limit the utilization of iron and growth of enteric bacteria such as E.coliDoes not prevent iron uptake by the bacterial siderophore aerobactin. Belongs to the ALB/AFP/VDB family.", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["DOI:10.1101/gr.1293003", "PMID:8134387", "PMID:11743713", "PMID:24129315", "PMID:2404284", "PMID:1518850", "PMID:3759977", "PMID:7902134", "DOI:10.1016/0167-4838(87)90088-4", "DOI:10.1210/jcem.80.2.7852505"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "213", "HGNC": "399", "MIM": "103600", "_id": "213", "_score": 27.226904, "alias": ["FDAHT", "HSA", "PRO0883", "PRO0903", "PRO1341"], "go": {"BP": [{"evidence": "IDA", "gocategory": "BP", "id": "GO:0009267", "pubmed": 16245148, "qualifier": "involved_in", "term": "cellular response to starvation"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0031667", "qualifier": "involved_in", "term": "response to nutrient levels"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0051902", "pubmed": 16153637, "qualifier": "involved_in", "term": "negative regulation of mitochondrial depolarization"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0072732", "pubmed": 16153637, "qualifier": "involved_in", "term": "cellular response to calcium ion starvation"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0098869", "qualifier": "involved_in", "term": "cellular oxidant detoxification"}], "MF": [{"category": "MF", "evidence": "IDA", "id": "GO:0003677", "pubmed": 16405401, "qualifier": "enables", "term": "DNA binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0005504", "pubmed": [16289007, 16413837], "qualifier": "enables", "term": "fatty acid binding"}, {"category": "MF", "evidence": "NAS", "id": "GO:0005504", "pubmed": 9731778, "qualifier": "enables", "term": "fatty acid binding"}, {"category": "MF", "evidence": "NAS", "id": "GO:0005507", "pubmed": 14726550, "qualifier": "enables", "term": "copper ion binding"}, {"category": "MF", "evidence": "IPI", "id": "GO:0005515", "pubmed": [9183005, 16099937, 23384347, 32814053], "qualifier": "enables", "term": "protein binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008289", "qualifier": "enables", "term": "lipid binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015643", "pubmed": 16169013, "qualifier": "enables", "term": "toxic substance binding"}, {"category": "MF", "evidence": "NAS", "id": "GO:0016209", "pubmed": 14726550, "qualifier": "enables", "term": "antioxidant activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0019825", "pubmed": 16283771, "qualifier": "contributes_to", "term": "oxygen binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0030170", "pubmed": 16201370, "qualifier": "enables", "term": "pyridoxal phosphate binding"}, {"category": "MF", "evidence": "IPI", "id": "GO:0042802", "pubmed": [15174051, 26554815], "qualifier": "enables", "term": "identical protein binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0046872", "qualifier": "enables", "term": "metal ion binding"}, {"category": "MF", "evidence": "IPI", "id": "GO:0051087", "pubmed": 19996109, "qualifier": "enables", "term": "protein-folding chaperone binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0140272", "pubmed": 16394536, "qualifier": "enables", "term": "exogenous protein binding"}, {"category": "MF", "evidence": "IBA", "id": "GO:1903981", "qualifier": "enables", "term": "enterobactin binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:1903981", "pubmed": 6234017, "qualifier": "enables", "term": "enterobactin binding"}]}, "interpro": [{"desc": "ALB/AFP/VDB", "id": "IPR000264", "short_desc": "ALB/AFP/VDB"}, {"desc": "Serum albumin, N-terminal", "id": "IPR014760", "short_desc": "Serum_albumin_N"}, {"desc": "Serum albumin, conserved site", "id": "IPR020857", "short_desc": "Serum_albumin_CS"}, {"desc": "Serum albumin-like", "id": "IPR020858", "short_desc": "Serum_albumin-like"}, {"desc": "Serum albumin/Alpha-fetoprotein/Afamin", "id": "IPR021177", "short_desc": "Serum_albumin/AFP/Afamin"}], "name": "albumin", "pharos": {"target_id": 6220, "tdl": "Tchem"}, "summary": "This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016].", "symbol": "ALB", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "HP:0000855": {"name": "Insulin resistance", "categories": ["biolink:PhenotypicFeature"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["Insulin resistance", "insulin resistance", "Insulin Resistance"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/HP_0000855", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. [HPO:probinson]; Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.; Decreased sensitivity to circulating insulin which may result in acanthosis nigicrans, elevated insulin level or hyperglycemia.; UMLS Semantic Type: STY:T046", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "HP:0000855", "_id": "HP:0000855", "_score": 9.448569, "annotations": [{"disease_id": "ORPHA:552", "gene": {"id": "3767", "symbol": "KCNJ11"}}, {"disease_id": "ORPHA:552", "gene": {"id": "8462", "symbol": "KLF11"}}, {"disease_id": "ORPHA:552", "gene": {"id": "26060", "symbol": "APPL1"}}, {"disease_id": "ORPHA:552", "gene": {"id": "640", "symbol": "BLK"}}, {"disease_id": "ORPHA:552", "gene": {"id": "1056", "symbol": "CEL"}}, {"disease_id": "ORPHA:552", "gene": {"id": "3630", "symbol": "INS"}}, 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"4000", "symbol": "LMNA"}}, {"disease_id": "OMIM:151660", "gene": {"id": "4000", "symbol": "LMNA"}}, {"disease_id": "ORPHA:2348", "gene": {"id": "4000", "symbol": "LMNA"}}, {"disease_id": "ORPHA:740", "gene": {"id": "10269", "symbol": "ZMPSTE24"}}, {"disease_id": "ORPHA:90154", "gene": {"id": "10269", "symbol": "ZMPSTE24"}}, {"disease_id": "ORPHA:363400", "gene": {"id": "26580", "symbol": "BSCL2"}}, {"disease_id": "ORPHA:528", "gene": {"id": "26580", "symbol": "BSCL2"}}, {"disease_id": "OMIM:604367", "gene": {"id": "5468", "symbol": "PPARG"}}, {"disease_id": "OMIM:125853", "gene": {"id": "5468", "symbol": "PPARG"}}, {"disease_id": "ORPHA:79083", "gene": {"id": "5468", "symbol": "PPARG"}}, {"disease_id": "ORPHA:528", "gene": {"id": "5468", "symbol": "PPARG"}}, {"disease_id": "OMIM:619322", "gene": {"id": "221496", "symbol": "LEMD2"}}, {"disease_id": "OMIM:125853", "gene": {"id": "6934", "symbol": "TCF7L2"}}, {"disease_id": "OMIM:125853", "gene": {"id": "5078", "symbol": "PAX4"}}, 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[https://orcid.org/0000-0002-0736-9199]", "hp": "HP:0000855", "name": "Insulin resistance", "synonym": {"exact": ["Body fails to respond to insulin"]}, "xrefs": {"snomedct_us": ["48606007"], "umls": ["C0021655"]}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:1577": {"name": "CYP3A5", "categories": ["biolink:Protein", "biolink:Gene"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["cytochrome P450 3A5 (human)", "CYP3A5 gene", "CYP3A5 [endoplasmic reticulum membrane]", "CYP3A5 protein, human", "CYP3A5", "CYP3A5 Gene"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/1577", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "This gene is involved in the metabolism of fatty acids, steroids, drugs and xenobiotics. It also plays a role in the metabolism of sex hormones.; UMLS Semantic Type: STY:T028", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["DOI:10.1016/0003-9861(89)90449-9", "PMID:12865317", "PMID:11266076", "DOI:10.1517/14622416.5.7.895", "PMID:7811260", "DOI:10.1038/nature01782", "DOI:10.1074/jbc.m109175200", "PMID:11502729", "PMID:11726664", "PMID:2802615"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "1577", "HGNC": "2638", "MIM": "605325", "_id": "1577", "_score": 27.226904, "alias": ["CP35", "CYPIIIA5", "P450PCN3", "PCN3"], "go": {"BP": [{"evidence": "IDA", "gocategory": "BP", "id": "GO:0002933", "pubmed": 14559847, "qualifier": "involved_in", "term": "lipid hydroxylation"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0002933", "qualifier": "involved_in", "term": "lipid hydroxylation"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006629", "qualifier": "involved_in", "term": "lipid metabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0006805", "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0008202", "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0008202", "pubmed": 14559847, "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008202", "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0008202", "pubmed": 2732228, "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0008210", "pubmed": 12865317, "qualifier": "involved_in", "term": "estrogen metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008210", "qualifier": "involved_in", "term": "estrogen metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0009822", "pubmed": 15039299, "qualifier": "involved_in", "term": "alkaloid catabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0009822", "qualifier": "involved_in", "term": "alkaloid catabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042178", "pubmed": 15039299, "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0042178", "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0042572", "qualifier": "involved_in", "term": "retinol metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042573", "pubmed": 11093772, "qualifier": "involved_in", "term": "retinoic acid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0042573", "qualifier": "involved_in", "term": "retinoic acid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0046222", "qualifier": "involved_in", "term": "aflatoxin metabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0046222", "qualifier": "involved_in", "term": "aflatoxin metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0070989", "qualifier": "involved_in", "term": "oxidative demethylation"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0070989", "pubmed": 15039299, "qualifier": "involved_in", "term": "oxidative demethylation"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0070989", "qualifier": "involved_in", "term": "oxidative demethylation"}], "MF": [{"category": "MF", "evidence": "IEA", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "ISS", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0004497", "pubmed": 2732228, "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0005506", "qualifier": "enables", "term": "iron ion binding"}, {"category": "MF", "evidence": "IPI", "id": "GO:0005515", "pubmed": 32814053, "qualifier": "enables", "term": "protein binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0008401", "pubmed": 11093772, "qualifier": "enables", "term": "retinoic acid 4-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008401", "qualifier": "enables", "term": "retinoic acid 4-hydroxylase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0016491", "pubmed": 15039299, "qualifier": "enables", "term": "oxidoreductase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016491", "qualifier": "enables", "term": "oxidoreductase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016705", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016712", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen"}, {"category": "MF", "evidence": "IEA", "id": "GO:0019825", "qualifier": "enables", "term": "oxygen binding"}, {"category": "MF", "evidence": "TAS", "id": "GO:0019825", "pubmed": 2732228, "qualifier": "enables", "term": "oxygen binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0020037", "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0046872", "qualifier": "enables", "term": "metal ion binding"}, {"category": "MF", "evidence": "IBA", "id": "GO:0050649", "qualifier": "enables", "term": "testosterone 6-beta-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0050649", "qualifier": "enables", "term": "testosterone 6-beta-hydroxylase activity"}, {"category": "MF", "evidence": "IBA", "id": "GO:0101020", "qualifier": "enables", "term": "estrogen 16-alpha-hydroxylase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0101020", "pubmed": 14559847, "qualifier": "enables", "term": "estrogen 16-alpha-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0101020", "qualifier": "enables", "term": "estrogen 16-alpha-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0101021", "qualifier": "enables", "term": "estrogen 2-hydroxylase activity"}]}, "interpro": [{"desc": "Cytochrome P450", "id": "IPR001128", "short_desc": "Cyt_P450"}, {"desc": "Cytochrome P450, E-class, group I", "id": "IPR002401", "short_desc": "Cyt_P450_E_grp-I"}, {"desc": "Cytochrome P450, E-class, CYP3A", "id": "IPR008072", "short_desc": "Cyt_P450_E_CYP3A"}, {"desc": "Cytochrome P450, conserved site", "id": "IPR017972", "short_desc": "Cyt_P450_CS"}, {"desc": "Cytochrome P450 superfamily", "id": "IPR036396", "short_desc": "Cyt_P450_sf"}, {"desc": "Cytochrome P450 3A", "id": "IPR050705", "short_desc": "Cytochrome_P450_3A"}, {"desc": "Cytochrome P450, E-class, group II", "id": "IPR002402", "short_desc": "Cyt_P450_E_grp-II"}, {"desc": "Cytochrome P450, E-class, group IV", "id": "IPR002403", "short_desc": "Cyt_P450_E_grp-IV"}], "name": "cytochrome P450 family 3 subfamily A member 5", "pharos": {"target_id": 18872, "tdl": "Tclin"}, "summary": "This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014].", "symbol": "CYP3A5", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "UMLS:C0011847": {"name": "Diabetes", "categories": ["biolink:Disease"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["Diabetes", "diabetes"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "https://identifiers.org/umls:C0011847", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "diabetes mellitus; UMLS Semantic Type: STY:T047", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}], "is_set": false}, "NCBIGene:1544": {"name": "CYP1A2", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["CYP1A2 gene", "CYP1A2 Gene", "cytochrome P450 1A2 (human)", "CYP1A2", "CYP1A2 [endoplasmic reticulum membrane]", "cyp1a2"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/1544", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "This gene plays a role in the oxidation/activation of procarcinogens. It is also involved in the metabolism of drugs and other xenobiotics.; UMLS Semantic Type: STY:T028", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["PMID:11295848", "DOI:10.2133/dmpk.20.24", "PMID:12865317", "DOI:10.1002/humu.20134", "DOI:10.1517/14622416.5.7.895", "PMID:9884316", "PMID:21068195", "DOI:10.1053/meta.2001.25592", "DOI:10.1210/mend-3-9-1399", "PMID:11555828"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "1544", "HGNC": "2596", "MIM": "124060", "_id": "1544", "_score": 27.226904, "alias": ["CP12", "CYPIA2", "P3-450", "P450(PA)"], "go": {"BP": [{"evidence": "IEA", "gocategory": "BP", "id": "GO:0006629", "qualifier": "involved_in", "term": "lipid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006631", "qualifier": "involved_in", "term": "fatty acid metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0006706", "qualifier": "involved_in", "term": "steroid catabolic process"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0006706", "pubmed": 18356043, "qualifier": "involved_in", "term": "steroid catabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006778", "qualifier": "acts_upstream_of_or_within", "term": "porphyrin-containing compound metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0006805", "pubmed": [15327587, 19219744], "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006805", "qualifier": "acts_upstream_of_or_within", "term": "xenobiotic metabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0006805", "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008202", "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008203", "qualifier": "involved_in", "term": "cholesterol metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0008210", "qualifier": "involved_in", "term": "estrogen metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0008210", "pubmed": [11555828, 12865317], "qualifier": "involved_in", "term": "estrogen metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0009403", "pubmed": 11511187, "qualifier": "involved_in", "term": "toxin biosynthetic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0009404", "qualifier": "involved_in", "term": "toxin metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0009404", "qualifier": "acts_upstream_of_or_within", "term": "toxin metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0009791", "qualifier": "acts_upstream_of_or_within", "term": "post-embryonic development"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0009820", "pubmed": 11511187, "qualifier": "involved_in", "term": "alkaloid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0010468", "qualifier": "acts_upstream_of_or_within", "term": "regulation of gene expression"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0016098", "pubmed": 16401082, "qualifier": "involved_in", "term": "monoterpenoid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0018894", "qualifier": "acts_upstream_of_or_within", "term": "dibenzo-p-dioxin metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0019369", "qualifier": "involved_in", "term": "arachidonate metabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0019373", "qualifier": "involved_in", "term": "epoxygenase P450 pathway"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0030324", "qualifier": "acts_upstream_of_or_within", "term": "lung development"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0032259", "qualifier": "involved_in", "term": "methylation"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0032787", "pubmed": 19651758, "qualifier": "involved_in", "term": "monocarboxylic acid metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0042178", "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042178", "pubmed": 18619574, "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0042178", "pubmed": 18356043, "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0042445", "qualifier": "involved_in", "term": "hormone metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042572", "pubmed": 10681376, "qualifier": "involved_in", "term": "retinol metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0042572", "qualifier": "involved_in", "term": "retinol metabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0042759", "qualifier": "involved_in", "term": "long-chain fatty acid biosynthetic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0045333", "qualifier": "acts_upstream_of_or_within", "term": "cellular respiration"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0046222", "qualifier": "involved_in", "term": "aflatoxin metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0050665", "qualifier": "acts_upstream_of_or_within", "term": "hydrogen peroxide biosynthetic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0070989", "pubmed": 18619574, "qualifier": "involved_in", "term": "oxidative demethylation"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0071276", "qualifier": "acts_upstream_of_or_within", "term": "cellular response to cadmium ion"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0097267", "qualifier": "involved_in", "term": "omega-hydroxylase P450 pathway"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0120254", "qualifier": "involved_in", "term": "olefinic compound metabolic process"}], "MF": [{"category": "MF", "evidence": "IDA", "id": "GO:0004497", "pubmed": [15327587, 19651758], "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0005506", "qualifier": "enables", "term": "iron ion binding"}, {"category": "MF", "evidence": "IPI", "id": "GO:0005515", "pubmed": [26988023, 32296183], "qualifier": "enables", "term": "protein binding"}, {"category": "MF", "evidence": "IBA", "id": "GO:0008395", "qualifier": "enables", "term": "steroid hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008395", "qualifier": "enables", "term": "steroid hydroxylase activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0009055", "pubmed": 2813353, "qualifier": "enables", "term": "electron transfer activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0016491", "pubmed": [16401082, 19219744], "qualifier": "enables", "term": "oxidoreductase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016491", "qualifier": "enables", "term": "oxidoreductase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016705", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen"}, {"category": "MF", "evidence": "IBA", "id": "GO:0016712", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016712", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen"}, {"category": "MF", "evidence": "IMP", "id": "GO:0016712", "pubmed": 2813353, "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016829", "qualifier": "enables", "term": "lyase activity"}, {"category": "MF", "evidence": "IPI", "id": "GO:0019899", "pubmed": 15680923, "qualifier": "enables", "term": "enzyme binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0020037", "pubmed": 17311915, "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0020037", "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0032451", "pubmed": 2813353, "qualifier": "enables", "term": "demethylase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0034875", "pubmed": 18619574, "qualifier": "enables", "term": "caffeine oxidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0046872", "qualifier": "enables", "term": "metal ion binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0101020", "pubmed": 11555828, "qualifier": "enables", "term": "estrogen 16-alpha-hydroxylase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0101021", "pubmed": [11555828, 12865317], "qualifier": "enables", "term": "estrogen 2-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0101021", "qualifier": "enables", "term": "estrogen 2-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0106256", "qualifier": "enables", "term": "hydroperoxy icosatetraenoate dehydratase activity"}]}, "interpro": [{"desc": "Cytochrome P450", "id": "IPR001128", "short_desc": "Cyt_P450"}, {"desc": "Cytochrome P450, E-class, group I", "id": "IPR002401", "short_desc": "Cyt_P450_E_grp-I"}, {"desc": "Cytochrome P450, E-class, group I, CYP1", "id": "IPR008066", "short_desc": "Cyt_P450_E_grp-I_CYP1"}, {"desc": "Cytochrome P450, conserved site", "id": "IPR017972", "short_desc": "Cyt_P450_CS"}, {"desc": "Cytochrome P450 superfamily", "id": "IPR036396", "short_desc": "Cyt_P450_sf"}], "name": "cytochrome P450 family 1 subfamily A member 2", "pharos": {"target_id": 19414, "tdl": "Tchem"}, "summary": "This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008].", "symbol": "CYP1A2", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:1555": {"name": "CYP2B6", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["CYP2B6 [endoplasmic reticulum membrane]", "CYP2B6 gene", "CYP2B6", "cytochrome P450 2B6 (human)", "CYP2B6 Gene"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/1555", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "A cytochrome P450 monooxygenase involved in the metabolism of endocannabinoids and steroidsMechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the epoxidation of double bonds of arachidonoylethanolamide (anandamide) to 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signalingHydroxylates steroid hormones, including testosterone at C-16 and estrogens at C-2Plays a role in the oxidative metabolism of xenobiotics, including plant lipids and drugsActs as a 1,4-cineole 2-exo-monooxygenase. Allele 2B6*9: Has low affinity for anandamide and can only produce 11,12 EpETrE-EAs. Belongs to the cytochrome P450 family.", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["PMID:20639527", "DOI:10.1038/nature02399", "PMID:21289075", "PMID:14551287", "DOI:10.1093/jac/dkq260", "PMID:12865317", "DOI:10.1517/14622416.5.7.895", "DOI:10.1006/bbrc.2001.4524", "PMID:10768437", "PMID:15057824"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "1555", "HGNC": "2615", "MIM": "123930", "_id": "1555", "_score": 27.226904, "alias": ["CPB6", "CYP2B", "CYP2B7", "CYP2B7P", "CYPIIB6", "EFVM", "IIB1", "P450"], "go": {"BP": [{"evidence": "IEA", "gocategory": "BP", "id": "GO:0006629", "qualifier": "involved_in", "term": "lipid metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0006805", "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0006805", "pubmed": [19651758, 20061448], "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0006805", "pubmed": 18356043, "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0006805", "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0008202", "pubmed": 18356043, "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0019373", "qualifier": "involved_in", "term": "epoxygenase P450 pathway"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042178", "pubmed": 19029318, "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042180", "pubmed": 19651758, "qualifier": "involved_in", "term": "ketone metabolic process"}], "MF": [{"category": "MF", "evidence": "IDA", "id": "GO:0004497", "pubmed": 19651758, "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0005506", "qualifier": "enables", "term": "iron ion binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0008390", "pubmed": 21289075, "qualifier": "enables", "term": "testosterone 16-alpha-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008390", "qualifier": "enables", "term": "testosterone 16-alpha-hydroxylase activity"}, {"category": "MF", "evidence": "IBA", "id": "GO:0008392", "qualifier": "enables", "term": "arachidonate epoxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016491", "qualifier": "enables", "term": "oxidoreductase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016705", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen"}, {"category": "MF", "evidence": "IBA", "id": "GO:0016712", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016712", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen"}, {"category": "MF", "evidence": "IBA", "id": "GO:0020037", "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0020037", "pubmed": 20061448, "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0020037", "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0046872", "qualifier": "enables", "term": "metal ion binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0062184", "pubmed": 21289075, "qualifier": "enables", "term": "testosterone 16-beta-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0062184", "qualifier": "enables", "term": "testosterone 16-beta-hydroxylase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0062187", "pubmed": 21289075, "qualifier": "enables", "term": "anandamide 8,9 epoxidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0062187", "qualifier": "enables", "term": "anandamide 8,9 epoxidase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0062188", "pubmed": 21289075, "qualifier": "enables", "term": "anandamide 11,12 epoxidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0062188", "qualifier": "enables", "term": "anandamide 11,12 epoxidase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0062189", "pubmed": 21289075, "qualifier": "enables", "term": "anandamide 14,15 epoxidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0062189", "qualifier": "enables", "term": "anandamide 14,15 epoxidase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0101021", "pubmed": 12865317, "qualifier": "enables", "term": "estrogen 2-hydroxylase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0101021", "qualifier": "enables", "term": "estrogen 2-hydroxylase activity"}]}, "interpro": [{"desc": "Cytochrome P450", "id": "IPR001128", "short_desc": "Cyt_P450"}, {"desc": "Cytochrome P450, E-class, group I", "id": "IPR002401", "short_desc": "Cyt_P450_E_grp-I"}, {"desc": "Cytochrome P450, conserved site", "id": "IPR017972", "short_desc": "Cyt_P450_CS"}, {"desc": "Cytochrome P450 superfamily", "id": "IPR036396", "short_desc": "Cyt_P450_sf"}, {"desc": "Cytochrome P450 family 2", "id": "IPR050182", "short_desc": "Cytochrome_P450_fam2"}, {"desc": "Cytochrome P450, E-class, group IV", "id": "IPR002403", "short_desc": "Cyt_P450_E_grp-IV"}, {"desc": "Cytochrome P450, E-class, group I, CYP2B-like", "id": "IPR008068", "short_desc": "Cyt_P450_E_grp-I_CYP2B-like"}], "name": "cytochrome P450 family 2 subfamily B member 6", "pharos": {"target_id": 18876, "tdl": "Tchem"}, "summary": "This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008].", "symbol": "CYP2B6", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "MONDO:0008487": {"name": "Androgen excess", "categories": ["biolink:Disease"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["Increased androgen level", "Polycystic ovary syndrome", "Polycystic ovary syndrome 1 related phenotypic feature", "Sclerocystic Ovaries", "Polycystic ovaries", "Androgen excess", "polycystic ovary syndrome", "Hyperandrogenism", "Androgen Excess", "hyperandrogenism", "androgen excess", "Polycystic Ovary Syndrome"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/MONDO_0008487", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts (fluid-filled sacs) to grow on the ovaries. Symptoms include: Irregular menstrual periods Infertility Pelvic pain Excess hair growth on the face, chest, stomach, or thighs Weight gain Acne or oily skin Patches of thickened skin Women with PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is more common in women who have obesity or have a mother or sister with PCOS. To diagnose PCOS, your health care provider may do a physical exam, pelvic exam, blood tests, and an ultrasound. There is no cure, but diet, exercise, and medicines can help control the symptoms. Birth control pills help women have normal periods, reduce male hormone levels, and clear acne. Treatments for infertility caused by PCOS may include medicines, surgery, and in vitro fertilization (IVF).
NIH: National Institute of Child Health and Human Development; UMLS Semantic Type: STY:T047; a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance; Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts (fluid-filled sacs) to grow on the ovaries. Symptoms include: Irregular menstrual periods Infertility Pelvic pain Excess hair growth on the face, chest, stomach, or thighs Weight gain Acne or oily skin Patches of thickened skin Women with PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is more common in women who have obesity or have a mother or sister with PCOS. To diagnose PCOS, your health care provider may do a physical exam, pelvic exam, blood tests, and an ultrasound. There is no cure, but diet, exercise, and medicines can help control the symptoms. Birth control pills help women have normal periods, reduce male hormone levels, and clear acne. Treatments for infertility caused by PCOS may include medicines, surgery, and in vitro fertilization (IVF).
NIH: National Institute of Child Health and Human Development; A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.; A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.; UMLS Semantic Type: STY:T047", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}], "is_set": false}, "NCBIGene:148": {"name": "ADRA1A", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["ADRA1A gene", "ADRA1A Gene", "ADRA1A protein, human", "ADRA1A [plasma membrane]", "alpha-1A adrenergic receptor (human)", "ADRA1A"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/148", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "This alpha-adrenergic receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Its effect is mediated by G(q) and G(11) proteins. Nuclear ADRA1A-ADRA1B heterooligomers regulate phenylephrine(PE)-stimulated ERK signaling in cardiac myocytes. Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA1A sub-subfamily.", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["PMID:8564208", "DOI:10.1006/bbrc.1994.1845", "PMID:22120526", "PMID:8183249", "DOI:10.1073/pnas.1315359111", "DOI:10.1016/0024-3205(94)90031-0", "DOI:10.1101/gr.2596504", "DOI:10.1006/bbrc.1993.2130", "DOI:10.1161/circresaha.108.176024", "PMID:8832064"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "148", "HGNC": "277", "MIM": "104221", "_id": "148", "_score": 27.226904, "alias": ["ADRA1C", "ADRA1L1", "ALPHA1AAR"], "go": {"BP": [{"evidence": "IEA", "gocategory": "BP", "id": "GO:0000165", "qualifier": "acts_upstream_of", "term": "MAPK cascade"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0001985", "qualifier": "acts_upstream_of_or_within", "term": "negative regulation of heart rate involved in baroreceptor response to increased systemic arterial blood pressure"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0001994", "qualifier": "acts_upstream_of_or_within", "term": "norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0001996", "qualifier": "acts_upstream_of_or_within", "term": "positive regulation of heart rate by epinephrine-norepinephrine"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0001997", "qualifier": "acts_upstream_of_or_within", "term": "positive regulation of the force of heart contraction by epinephrine-norepinephrine"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0006915", "pubmed": 10671514, "qualifier": "involved_in", "term": "apoptotic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006937", "qualifier": "involved_in", "term": "regulation of muscle contraction"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0006939", "pubmed": 8183249, "qualifier": "involved_in", "term": "smooth muscle contraction"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0007165", "qualifier": "involved_in", "term": "signal transduction"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0007165", "pubmed": 8396931, "qualifier": "involved_in", "term": "signal transduction"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0007186", "qualifier": "involved_in", "term": "G protein-coupled receptor signaling pathway"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0007186", "pubmed": 10860850, "qualifier": "involved_in", "term": "G protein-coupled receptor signaling pathway"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0007200", "qualifier": "involved_in", "term": "phospholipase C-activating G protein-coupled receptor signaling pathway"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0007200", "qualifier": "acts_upstream_of_or_within", "term": "phospholipase C-activating G protein-coupled receptor signaling pathway"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0007204", "qualifier": "involved_in", "term": "positive regulation of cytosolic calcium ion concentration"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0007204", "qualifier": "involved_in", "term": "positive regulation of cytosolic calcium ion concentration"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0007267", "qualifier": "involved_in", "term": "cell-cell signaling"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0007267", "pubmed": 8396931, "qualifier": "involved_in", "term": "cell-cell signaling"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0007512", "qualifier": "acts_upstream_of_or_within", "term": "adult heart development"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008217", "qualifier": "involved_in", "term": "regulation of blood pressure"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0008285", "pubmed": 10860850, "qualifier": "involved_in", "term": "negative regulation of cell population proliferation"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0009410", "qualifier": "involved_in", "term": "response to xenobiotic stimulus"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0009725", "qualifier": "involved_in", "term": "response to hormone"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0010507", "qualifier": "acts_upstream_of_or_within", "term": "negative regulation of autophagy"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0010613", "qualifier": "acts_upstream_of_or_within", "term": "positive regulation of cardiac muscle hypertrophy"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0019229", "qualifier": "involved_in", "term": "regulation of vasoconstriction"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0032230", "qualifier": "involved_in", "term": "positive regulation of synaptic transmission, GABAergic"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0035265", "qualifier": "acts_upstream_of_or_within", "term": "organ growth"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0035556", "pubmed": 10671514, "qualifier": "involved_in", "term": "intracellular signal transduction"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0043410", "qualifier": "involved_in", "term": "positive regulation of MAPK cascade"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0043410", "pubmed": 22120526, "qualifier": "involved_in", "term": "positive regulation of MAPK cascade"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0043410", "qualifier": "acts_upstream_of_or_within", "term": "positive regulation of MAPK cascade"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0045760", "qualifier": "involved_in", "term": "positive regulation of action potential"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0045907", "qualifier": "involved_in", "term": "positive regulation of vasoconstriction"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0045987", "qualifier": "involved_in", "term": "positive regulation of smooth muscle contraction"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0055117", "qualifier": "involved_in", "term": "regulation of cardiac muscle contraction"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0060452", "qualifier": "involved_in", "term": "positive regulation of cardiac muscle contraction"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0061049", "qualifier": "acts_upstream_of_or_within", "term": "cell growth involved in cardiac muscle cell development"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0070374", "qualifier": "involved_in", "term": "positive regulation of ERK1 and ERK2 cascade"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0071875", "qualifier": "acts_upstream_of_or_within", "term": "adrenergic receptor signaling pathway"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0071880", "qualifier": "involved_in", "term": "adenylate cyclase-activating adrenergic receptor signaling pathway"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0071882", "qualifier": "involved_in", "term": "phospholipase C-activating adrenergic receptor signaling pathway"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0097195", "qualifier": "involved_in", "term": "pilomotor reflex"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0150099", "qualifier": "involved_in", "term": "neuron-glial cell signaling"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0150099", "qualifier": "involved_in", "term": "neuron-glial cell signaling"}], "MF": [{"category": "MF", "evidence": "IEA", "id": "GO:0004930", "qualifier": "enables", "term": "G protein-coupled receptor activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0004935", "qualifier": "enables", "term": "adrenergic receptor activity"}, {"category": "MF", "evidence": "IBA", "id": "GO:0004937", "qualifier": "enables", "term": "alpha1-adrenergic receptor activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0004937", "qualifier": "enables", "term": "alpha1-adrenergic receptor activity"}, {"category": "MF", "evidence": "NAS", "id": "GO:0004937", "pubmed": 9490024, "qualifier": "enables", "term": "alpha1-adrenergic receptor activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0004937", "pubmed": 7737411, "qualifier": "enables", "term": "alpha1-adrenergic receptor activity"}, {"category": "MF", "evidence": "IPI", "id": "GO:0005515", "pubmed": [20508391, 24567387], "qualifier": "enables", "term": "protein binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0046982", "pubmed": 22120526, "qualifier": "enables", "term": "protein heterodimerization activity"}]}, "interpro": [{"desc": "G protein-coupled receptor, rhodopsin-like", "id": "IPR000276", "short_desc": "GPCR_Rhodpsn"}, {"desc": "Alpha 1A adrenoceptor", "id": "IPR001004", "short_desc": "ADRA1A_rcpt"}, {"desc": "Adrenoceptor family", "id": "IPR002233", "short_desc": "ADR_fam"}, {"desc": "GPCR, rhodopsin-like, 7TM", "id": "IPR017452", "short_desc": "GPCR_Rhodpsn_7TM"}], "name": "adrenoceptor alpha 1A", "pharos": {"target_id": 8659, "tdl": "Tclin"}, "summary": "Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq, Jul 2008].", "symbol": "ADRA1A", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:1557": {"name": "CYP2C19", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["CYP2C19", "CYP2C19 Gene", "CYP2C19 [endoplasmic reticulum membrane]", "cyp2c19", "CYP2C19 gene", "cytochrome P450 2C19 (human)"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/1557", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA)Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase)Catalyzes the hydroxylation of carbon-hydrogen bonds. Hydroxylates PUFA specifically at the omega-1 positionCatalyzes the epoxidation of double bonds of PUFAAlso metabolizes plant monoterpenes such as limonene. Oxygenates (R)- and (S)-limonene to produce carveol and perillyl alcoholResponsible for the metabolism of a number of therapeutic agents such as the anticonvulsant drug S-mephenytoin, omeprazole, proguanil, certain barbiturates, diazepam, propranolol, citalopram and imipramine. Hydroxylates fenbendazole at the 4' position. Belongs to the cytochrome P450 family.", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["DOI:10.1038/nature02462", "DOI:10.1074/jbc.m112.424895", "DOI:10.1128/aac.00843-13", "DOI:10.1517/14622416.5.7.895", "PMID:15499191", "PMID:12464799", "PMID:7969038", "PMID:24275569", "DOI:10.1021/bi00227a012", "PMID:15469410"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "1557", "HGNC": "2621", "MIM": "124020", "_id": "1557", "_score": 27.226904, "alias": ["CPCJ", "CYP2C", "CYPIIC17", "CYPIIC19", "P450C2C", "P450IIC19"], "go": {"BP": [{"evidence": "IDA", "gocategory": "BP", "id": "GO:0001676", "pubmed": 18577768, "qualifier": "involved_in", "term": "long-chain fatty acid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006629", "qualifier": "involved_in", "term": "lipid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006631", "qualifier": "involved_in", "term": "fatty acid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006721", "qualifier": "involved_in", "term": "terpenoid metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0006805", "pubmed": [19219744, 19651758], "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0006805", "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0008202", "pubmed": 18356043, "qualifier": "involved_in", "term": "steroid metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0016098", "pubmed": 16401082, "qualifier": "involved_in", "term": "monoterpenoid metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0019373", "qualifier": "involved_in", "term": "epoxygenase P450 pathway"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0019373", "qualifier": "involved_in", "term": "epoxygenase P450 pathway"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0032787", "qualifier": "involved_in", "term": "monocarboxylic acid metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0042178", "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042178", "pubmed": 19029318, "qualifier": "involved_in", "term": "xenobiotic catabolic process"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0097267", "qualifier": "involved_in", "term": "omega-hydroxylase P450 pathway"}], "MF": [{"category": "MF", "evidence": "IDA", "id": "GO:0004497", "pubmed": 19651758, "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0004497", "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0004497", "pubmed": 8110777, "qualifier": "enables", "term": "monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0005506", "qualifier": "enables", "term": "iron ion binding"}, {"category": "MF", "evidence": "IMP", "id": "GO:0008395", "pubmed": 18356043, "qualifier": "enables", "term": "steroid hydroxylase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0016491", "pubmed": [16401082, 19219744], "qualifier": "enables", "term": "oxidoreductase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016491", "qualifier": "enables", "term": "oxidoreductase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016705", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen"}, {"category": "MF", "evidence": "IBA", "id": "GO:0016712", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016712", "qualifier": "enables", "term": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen"}, {"category": "MF", "evidence": "IEA", "id": "GO:0018675", "qualifier": "enables", "term": "(S)-limonene 6-monooxygenase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0018676", "qualifier": "enables", "term": "(S)-limonene 7-monooxygenase activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0019825", "pubmed": 3442670, "qualifier": "enables", "term": "oxygen binding"}, {"category": "MF", "evidence": "IPI", "id": "GO:0019899", "pubmed": 15680923, "qualifier": "enables", "term": "enzyme binding"}, {"category": "MF", "evidence": "IBA", "id": "GO:0020037", "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0020037", "pubmed": 23118231, "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0020037", "qualifier": "enables", "term": "heme binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0046872", "qualifier": "enables", "term": "metal ion binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0052741", "qualifier": "enables", "term": "(R)-limonene 6-monooxygenase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0120319", "pubmed": 18577768, "qualifier": "enables", "term": "long-chain fatty acid omega-1 hydroxylase activity"}]}, "interpro": [{"desc": "Cytochrome P450", "id": "IPR001128", "short_desc": "Cyt_P450"}, {"desc": "Cytochrome P450, E-class, group I", "id": "IPR002401", "short_desc": "Cyt_P450_E_grp-I"}, {"desc": "Cytochrome P450, conserved site", "id": "IPR017972", "short_desc": "Cyt_P450_CS"}, {"desc": "Cytochrome P450 superfamily", "id": "IPR036396", "short_desc": "Cyt_P450_sf"}, {"desc": "Cytochrome P450 family 2", "id": "IPR050182", "short_desc": "Cytochrome_P450_fam2"}], "name": "cytochrome P450 family 2 subfamily C member 19", "pharos": {"target_id": 13425, "tdl": "Tchem"}, "summary": "This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008].", "symbol": "CYP2C19", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "UMLS:C0020616": {"name": "Hypoglycemic Agents", "categories": ["biolink:Drug"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["Hypoglycemic Agents"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "https://identifiers.org/umls:C0020616", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "
NIH: National Institute of Diabetes and Digestive and Kidney Diseases; Substances which lower blood glucose levels.; UMLS Semantic Type: STY:T121", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}], "is_set": false}, "CHEBI:5931": {"name": "insulin human", "categories": ["biolink:SmallMolecule", "biolink:MolecularMixture", "biolink:ChemicalEntity", "biolink:Drug", "biolink:Protein", "biolink:MolecularEntity"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["3 ML insulin lispro-aabc 100 UNT/ML Pen Injector [Lyumjev]", "Basaglar", "insulin isophane, human", "INSULIN ZINC SUSP SEMISYNTHETIC PURIFIED HUMAN", "insulin glargine-yfgn 100 UNT/ML", "insulin degludec 100 UNT/ML Injectable Solution", "insulin, regular, human Pen Injector", "insulin lispro", "lente insulin, pork", "insulin aspart protamine, human 70 UNT/ML / insulin aspart, human 30 UNT/ML 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"original_attribute_name": null, "value": "Regular insulin preparations that contain the HUMAN insulin peptide sequence.; A recombinant form of the naturally occurring human pancreatic hormone insulin. 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Insulin also inhibits lipolysis in adipose tissue, inhibits proteolysis, and enhances protein synthesis. Check for \"https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C29125\" active clinical trials using this agent. 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Disorder", "metabolic disease", "disease of metabolism", "Unspecified disorder of metabolism"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/MONDO_0005066", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy. You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. ; Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed); A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process.; UMLS Semantic Type: STY:T047", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "MONDO:0005066", "_id": "MONDO:0005066", "_score": 9.827722, "disease_ontology": {"_license": "https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt", "def": "\"A disease that involves errors in metabolic processes of building or degradation of molecules.\" [url:http\\://www.ncbi.nlm.nih.gov/books/NBK22259/]", "doid": "DOID:0014667", "name": "disease of metabolism", "synonyms": {"exact": ["metabolic disease"]}, "xrefs": {"icd10": "E88.9", "icd9": "277.9", "mesh": "D008659", "ncit": "C3235", "snomedct_us_2023_03_01": "75934005", "umls_cui": "C0025517"}}, "mondo": {"mondo": "MONDO:0005066", "synonym": {"exact": ["disorder of metabolic process", "metabolic disease", "metabolic disorder", "metabolic process disease"], "related": ["disease of metabolism"]}, "xrefs": {"doid": ["DOID:0014667"], "efo": ["EFO:0000589"], "icd10cm": ["E70-E88"], "icd10who": ["E70-E90"], "icd9": ["277.8", "277.9"], "medgen": ["44376"], "mesh": ["D008659"], "nando": ["1100002"], "ncit": ["C3235"], "sctid": ["75934005"], "umls": ["C0025517"]}}, "umls": {"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C0025517"}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "MONDO:0001673": {"name": "diarrhea", "categories": ["biolink:Disease", "biolink:PhenotypicFeature"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["Diarrheal disorder", "diarrheal disease", "Diarrhea", "diarrhea"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/MONDO_0001673", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. [HPO:probinson];
NIH: National Institute of Diabetes and Digestive and Kidney Diseases; An increased liquidity or decreased consistency of FECES, such as running stool. Fecal consistency is related to the ratio of water-holding capacity of insoluble solids to total water, rather than the amount of water present. Diarrhea is not hyperdefecation or increased fecal weight.; Watery bowel movements.; UMLS Semantic Type: STY:T184", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "MONDO:0001673", "_id": "MONDO:0001673", "_score": 9.827722, "disease_ontology": {"_license": "https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt", "def": "\"A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.\" [url:http\\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea]", "doid": "DOID:13250", "name": "diarrhea", "synonyms": {"related": ["diarrhea of presumed infectious origin", "diarrhoea"]}, "xrefs": {"icd9": "009.2", "mesh": "D004403", "snomedct_us_2023_03_01": "154268000", "umls_cui": "C0013369"}}, "mondo": {"mondo": "MONDO:0001673", "synonym": {"exact": ["diarrhea", "diarrheal disease", "diarrheal disorder", "diarrhoea", "frequent stools", "loose stools"], "related": ["diarrhea of presumed infectious origin", "diarrhoea of presumed infectious origin"]}, "xrefs": {"doid": ["DOID:13250"], "hp": ["HP:0002014"], "icd9": ["009.2"], "medgen": ["713159"], "mesh": ["D003967"], "ncit": ["C2987"], "sctid": ["128333008", "111939009"], "umls": ["C1290807"]}}, "umls": [{"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C1290807"}, {"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C0011991"}]}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "MONDO:0005047": {"name": "infertility", "categories": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["fertility disorders", "Fertility Disorders", "Sterility, Reproductive", "infertility disorder", "infertility", "Infertility"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/MONDO_0005047", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Unable to produce children; Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility. Infertility is fairly common. After one year of having unprotected sex, about 15% of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found. There are treatments that are specifically for men or for women. Some involve both partners. Drugs, assisted reproductive technology, and surgery are common treatments. Happily, many couples treated for infertility go on to have babies.
NIH: National Institute of Child Health and Human Development; Complete inability to conceive or induce conception.; UMLS Semantic Type: STY:T046", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}], "is_set": false}, "MONDO:0013209": {"name": "metabolic dysfunction-associated steatotic liver disease", "categories": ["biolink:Disease"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["Nonalcoholic Fatty Liver Disease", "Non-alcoholic Fatty Liver Disease", "non-alcoholic fatty liver disease", "non-alcoholic fatty liver", "Nonalcoholic fatty liver disease", "metabolic dysfunction-associated steatotic liver disease", "nonalcoholic fatty liver"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/MONDO_0013209", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. // Metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD) is a type of liver disease that is not caused by alcohol. It typically does not cause symptoms in the early stages, but it can cause health problems due to fat accumulation, inflammation, and scarring in the liver.", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "MONDO:0013209", "_id": "MONDO:0013209", "_score": 9.827722, "disease_ontology": {"_license": "https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt", "def": "\"A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.\" [url:https\\://pubmed.ncbi.nlm.nih.gov/37364816/]", "doid": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "synonyms": {"exact": ["MAFLD", "MASLD", "metabolic dysfunction-associated fatty liver disease", "metabolic dysfunction-related steatotic liver disease", "metabolic-associated fatty liver disease", "NAFLD", "non-alcoholic fatty liver disease", "nonalcoholic fatty liver disease"]}, "xrefs": {"mesh": "D065626", "mim": ["613282", "613387"]}}, "mondo": {"mondo": "MONDO:0013209", "synonym": {"exact": ["fatty liver disease, nonalcoholic", "MASLD", "NAFLD", "NAFLD - nonalcoholic fatty liver disease", "non-alcoholic fatty liver", "non-alcoholic fatty liver disease", "nonalcoholic fatty liver disease"], "related": ["fatty liver disease, nonalcoholic, susceptibility to, 1", "liver disease, alcoholic, susceptibility to, 1", "NAFLD1"]}, "xrefs": {"doid": ["DOID:0080546", "DOID:0080208"], "efo": ["EFO:0003095"], "icd9": ["571.8"], "meddra": ["10029530"], "medgen": ["96033"], "mesh": ["D065626"], "ncit": ["C84444"], "orphanet": ["33271"], "sctid": ["197315008"], "umls": ["C0400966"]}}, "umls": {"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C0400966"}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:6580": {"name": "SLC22A1", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["SLC22A1 [plasma membrane]", "Solute Carrier Family 22 Member 1", "SLC22A1 gene", "SLC22A1 [basolateral plasma membrane]", "solute carrier family 22 member 1 (human)", "SLC22A1 Gene", "SLC22A1"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/6580", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Solute carrier family 22 member 1 (554 aa, ~61 kDa) is encoded by the human SLC22A1 gene. This protein is involved in bidirectional cation transport.; UMLS Semantic Type: STY:T116; UMLS Semantic Type: STY:T123", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["PMID:16581093", "DOI:10.1073/pnas.0730858100", "DOI:10.1016/j.jbc.2022.101974", "DOI:10.1089/dna.1997.16.871", "DOI:10.1158/0008-5472.can-06-0769", "PMID:15389554", "PMID:15817714", "DOI:10.2133/dmpk.20.379", "PMID:12439218", "DOI:10.1002/jcp.20081"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "6580", "HGNC": "10963", "MIM": "602607", "_id": "6580", "_score": 27.226904, "alias": ["HOCT1", "OCT1", "oct1_cds"], "go": {"BP": [{"evidence": "TAS", "gocategory": "BP", "id": "GO:0006805", "qualifier": "involved_in", "term": "xenobiotic metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006811", "qualifier": "involved_in", "term": "monoatomic ion transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006812", "qualifier": "acts_upstream_of_or_within", "term": "monoatomic cation transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0006836", "pubmed": 24688079, "qualifier": "involved_in", "term": "neurotransmitter transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0006837", "pubmed": [12439218, 24961373, 35469921], "qualifier": "involved_in", "term": "serotonin transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006837", "qualifier": "involved_in", "term": "serotonin transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0010248", "qualifier": "involved_in", "term": "establishment or maintenance of transmembrane electrochemical gradient"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0015695", "qualifier": "involved_in", "term": "organic cation transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015695", "pubmed": [22806583, 24291757], "qualifier": "involved_in", "term": "organic cation transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0015695", "qualifier": "involved_in", "term": "organic cation transport"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0015695", "pubmed": 9187257, "qualifier": "involved_in", "term": "organic cation transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015697", "pubmed": 23567998, "qualifier": "involved_in", "term": "quaternary ammonium group transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0015697", "qualifier": "involved_in", "term": "quaternary ammonium group transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015732", "pubmed": 11907186, "qualifier": "involved_in", "term": "prostaglandin transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015844", "pubmed": 35469921, "qualifier": "involved_in", "term": "monoamine transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0015844", "qualifier": "involved_in", "term": "monoamine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015847", "pubmed": 21128598, "qualifier": "involved_in", "term": "putrescine transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0015848", "qualifier": "involved_in", "term": "spermidine transport"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0015848", "qualifier": "involved_in", "term": "spermidine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015870", "pubmed": 15817714, "qualifier": "involved_in", "term": "acetylcholine transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0015870", "qualifier": "involved_in", "term": "acetylcholine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015872", "pubmed": 35469921, "qualifier": "involved_in", "term": "dopamine transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0015872", "qualifier": "involved_in", "term": "dopamine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015874", "pubmed": 24688079, "qualifier": "involved_in", "term": "norepinephrine transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0015874", "qualifier": "involved_in", "term": "norepinephrine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015888", "pubmed": [24961373, 35469921], "qualifier": "involved_in", "term": "thiamine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042908", "pubmed": [9260930, 11408531, 15389554, 22806583, 24291757, 35469921], "qualifier": "involved_in", "term": "xenobiotic transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0042908", "qualifier": "involved_in", "term": "xenobiotic transport"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0042908", "pubmed": [20477935, 28362799], "qualifier": "involved_in", "term": "xenobiotic transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0048241", "pubmed": 35469921, "qualifier": "involved_in", "term": "epinephrine transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0048241", "qualifier": "involved_in", "term": "epinephrine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0051610", "pubmed": 24688079, "qualifier": "involved_in", "term": "serotonin uptake"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0051610", "qualifier": "involved_in", "term": "serotonin uptake"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0051620", "qualifier": "involved_in", "term": "norepinephrine uptake"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0055085", "qualifier": "involved_in", "term": "transmembrane transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0071934", "pubmed": [24961373, 35469921], "qualifier": "involved_in", "term": "thiamine transmembrane transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0071934", "qualifier": "involved_in", "term": "thiamine transmembrane transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0072237", "qualifier": "involved_in", "term": "metanephric proximal tubule development"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0072530", "qualifier": "involved_in", "term": "purine-containing compound transmembrane transport"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0072530", "qualifier": "involved_in", "term": "purine-containing compound transmembrane transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0090494", "pubmed": 24688079, "qualifier": "involved_in", "term": "dopamine uptake"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0090494", "qualifier": "involved_in", "term": "dopamine uptake"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0098655", "qualifier": "involved_in", "term": "monoatomic cation transmembrane transport"}, {"evidence": "NAS", "gocategory": "BP", "id": "GO:0150104", "pubmed": [26590417, 30280653], "qualifier": "involved_in", "term": "transport across blood-brain barrier"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:1902270", "qualifier": "involved_in", "term": "(R)-carnitine transmembrane transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:1902616", "qualifier": "involved_in", "term": "O-acyl-L-carnitine transmembrane transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:1903711", "qualifier": "involved_in", "term": "spermidine transmembrane transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:1990748", "pubmed": [22806583, 24291757], "qualifier": "involved_in", "term": "cellular detoxification"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:1990748", "qualifier": "involved_in", "term": "cellular detoxification"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:1990748", "pubmed": 20477935, "qualifier": "involved_in", "term": "cellular detoxification"}, {"evidence": "NAS", "gocategory": "BP", "id": "GO:1990962", "pubmed": 20477935, "qualifier": "involved_in", "term": "xenobiotic transport across blood-brain barrier"}], "MF": [{"category": "MF", "evidence": "IDA", "id": "GO:0005277", "pubmed": 15817714, "qualifier": "enables", "term": "acetylcholine transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0005277", "qualifier": "enables", "term": "acetylcholine transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0005326", "pubmed": [12439218, 24688079, 24961373, 35469921], "qualifier": "enables", "term": "neurotransmitter transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0005326", "qualifier": "enables", "term": "neurotransmitter transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0005330", "qualifier": "enables", "term": "dopamine:sodium symporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0005334", "qualifier": "enables", "term": "norepinephrine:sodium symporter activity"}, {"category": "MF", "evidence": "IPI", "id": "GO:0005515", "pubmed": [11543633, 21988832, 32296183], "qualifier": "enables", "term": "protein binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0008504", "pubmed": [9260930, 12439218, 24688079, 24961373, 35469921], "qualifier": "enables", "term": "monoamine transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008504", "qualifier": "enables", "term": "monoamine transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0008514", "pubmed": 11907186, "qualifier": "enables", "term": "organic anion transmembrane transporter activity"}, {"category": "MF", "evidence": "EXP", "id": "GO:0015101", "pubmed": 19141712, "qualifier": "enables", "term": "organic cation transmembrane transporter activity"}, {"category": "MF", "evidence": "IBA", "id": "GO:0015101", "qualifier": "enables", "term": "organic cation transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015101", "pubmed": [9260930, 17460754, 22806583, 24291757], "qualifier": "enables", "term": "organic cation transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0015101", "qualifier": "enables", "term": "organic cation transmembrane transporter activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0015101", "pubmed": 9187257, "qualifier": "enables", "term": "organic cation transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015132", "pubmed": 11907186, "qualifier": "enables", "term": "prostaglandin transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0015132", "qualifier": "enables", "term": "prostaglandin transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0015214", "qualifier": "enables", "term": "pyrimidine nucleoside transmembrane transporter activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0015214", "pubmed": 20477935, "qualifier": "enables", "term": "pyrimidine nucleoside transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0015234", "qualifier": "enables", "term": "thiamine transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015489", "pubmed": 21128598, "qualifier": "enables", "term": "putrescine transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0015489", "qualifier": "enables", "term": "putrescine transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0015606", "qualifier": "enables", "term": "spermidine transmembrane transporter activity"}, {"category": "MF", "evidence": "ISS", "id": "GO:0015606", "qualifier": "enables", "term": "spermidine transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015651", "pubmed": 23567998, "qualifier": "enables", "term": "quaternary ammonium group transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0015651", "qualifier": "enables", "term": "quaternary ammonium group transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0019534", "pubmed": [22806583, 24291757], "qualifier": "enables", "term": "toxin transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0019534", "qualifier": "enables", "term": "toxin transmembrane transporter activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0019534", "pubmed": 20477935, "qualifier": "enables", "term": "toxin transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0022857", "qualifier": "enables", "term": "transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0042802", "qualifier": "enables", "term": "identical protein binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0042910", "pubmed": [9260930, 11408531, 15389554, 35469921], "qualifier": "enables", "term": "xenobiotic transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0042910", "qualifier": "enables", "term": "xenobiotic transmembrane transporter activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0042910", "pubmed": [20477935, 28362799], "qualifier": "enables", "term": "xenobiotic transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:1901235", "qualifier": "enables", "term": "(R)-carnitine transmembrane transporter activity"}]}, "interpro": [{"desc": "Organic cation transport protein/SVOP", "id": "IPR004749", "short_desc": "Orgcat_transp/SVOP"}, {"desc": "Major facilitator, sugar transporter-like", "id": "IPR005828", "short_desc": "MFS_sugar_transport-like"}, {"desc": "Sugar transporter, conserved site", "id": "IPR005829", "short_desc": "Sugar_transporter_CS"}, {"desc": "Major facilitator superfamily domain", "id": "IPR020846", "short_desc": "MFS_dom"}, {"desc": "MFS transporter superfamily", "id": "IPR036259", "short_desc": "MFS_trans_sf"}], "name": "solute carrier family 22 member 1", "pharos": {"target_id": 9450, "tdl": "Tchem"}, "summary": "Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008].", "symbol": "SLC22A1", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:6524": {"name": "SLC5A2", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["SLC5A2 gene", "SLC5A2 [plasma membrane]", "SLC5A2", "SLC5A2 protein, human", "sodium/glucose cotransporter 2 (human)", "SLC5A2 N654S [plasma membrane]", "SLC5A2 R479G [plasma membrane]", "SLC5A2 Q167fs*20 [plasma membrane]", "SLC5A2 Gene", "SLC5A2 W440* [plasma membrane]"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/6524", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Electrogenic Na(+)-coupled sugar symporter that actively transports D-glucose at the plasma membrane, with a Na(+) to sugar coupling ratio of 1:1Transporter activity is driven by a transmembrane Na(+) electrochemical gradient set by the Na(+)/K(+) pumpUnlike SLC5A1/SGLT1, requires the auxiliary protein PDZK1IP1/MAP17 for full transporter activityHas a primary role in D-glucose reabsorption from glomerular filtrate across the brush border of the early proximal tubules of the kidney (By similarity). Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["PMID:14614622", "DOI:10.1152/ajprenal.00628.2016", "PMID:20980548", "PMID:1415574", "DOI:10.1007/s00439-003-1054-x", "PMID:28592437", "PMID:38057552", "DOI:10.1152/ajprenal.1992.263.3.f459", "PMID:15489334", "PMID:37217492"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "6524", "HGNC": "11037", "MIM": "182381", "_id": "6524", "_score": 27.226904, "alias": "SGLT2", "go": {"BP": [{"evidence": "IDA", "gocategory": "BP", "id": "GO:0000017", "pubmed": [20980548, 26376857], "qualifier": "involved_in", "term": "alpha-glucoside transport"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0005975", "pubmed": 8244402, "qualifier": "involved_in", "term": "carbohydrate metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006811", "qualifier": "involved_in", "term": "monoatomic ion transport"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0006814", "qualifier": "involved_in", "term": "sodium ion transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006814", "qualifier": "involved_in", "term": "sodium ion transport"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0008645", "qualifier": "involved_in", "term": "hexose transmembrane transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0035623", "qualifier": "involved_in", "term": "renal D-glucose absorption"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0035623", "qualifier": "involved_in", "term": "renal D-glucose absorption"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0055085", "qualifier": "involved_in", "term": "transmembrane transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0098708", "pubmed": 20980548, "qualifier": "involved_in", "term": "D-glucose import across plasma membrane"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0098719", "pubmed": 20980548, "qualifier": "involved_in", "term": "sodium ion import across plasma membrane"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:1904659", "qualifier": "involved_in", "term": "D-glucose transmembrane transport"}], "MF": [{"category": "MF", "evidence": "TAS", "id": "GO:0005362", "pubmed": 8244402, "qualifier": "enables", "term": "low-affinity D-glucose:sodium symporter activity"}, {"category": "MF", "evidence": "EXP", "id": "GO:0005412", "pubmed": 11133510, "qualifier": "enables", "term": "D-glucose:sodium symporter activity"}, {"category": "MF", "evidence": "IBA", "id": "GO:0005412", "qualifier": "enables", "term": "D-glucose:sodium symporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0005412", "pubmed": [20980548, 28592437], "qualifier": "enables", "term": "D-glucose:sodium symporter activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0005412", "qualifier": "enables", "term": "D-glucose:sodium symporter activity"}, {"category": "MF", "evidence": "IPI", "id": "GO:0005515", "pubmed": [28514442, 33961781, 34880493, 38057552], "qualifier": "enables", "term": "protein binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015151", "pubmed": [20980548, 26376857], "qualifier": "enables", "term": "alpha-glucoside transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0015293", "qualifier": "enables", "term": "symporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0015370", "qualifier": "enables", "term": "solute:sodium symporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0022857", "qualifier": "enables", "term": "transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0046872", "qualifier": "enables", "term": "metal ion binding"}, {"category": "MF", "evidence": "IDA", "id": "GO:0055056", "pubmed": 20980548, "qualifier": "enables", "term": "D-glucose transmembrane transporter activity"}]}, "interpro": [{"desc": "Sodium/solute symporter", "id": "IPR001734", "short_desc": "Na/solute_symporter"}, {"desc": "Sodium/solute symporter, conserved site", "id": "IPR018212", "short_desc": "Na/solute_symporter_CS"}, {"desc": "Sodium/glucose symporter superfamily", "id": "IPR038377", "short_desc": "Na/Glc_symporter_sf"}], "name": "solute carrier family 5 member 2", "pharos": {"target_id": 19743, "tdl": "Tclin"}, "summary": "This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 2015].", "symbol": "SLC5A2", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "UMLS:C1827106": {"name": "Dipeptidyl-Peptidase IV Inhibitors", "categories": ["biolink:Drug"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["Dipeptidyl-Peptidase IV Inhibitors"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "https://identifiers.org/umls:C1827106", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Compounds that suppress the degradation of INCRETINS by blocking the action of DIPEPTIDYL-PEPTIDASE IV. This helps to correct the defective INSULIN and GLUCAGON secretion characteristic of TYPE 2 DIABETES MELLITUS by stimulating insulin secretion and suppressing glucagon release.; UMLS Semantic Type: STY:T121", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}], "is_set": false}, "MONDO:0004790": {"name": "Fatty Liver", "categories": ["biolink:Disease"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["Hepatic steatosis", "fatty liver disease", "Alcoholic fatty liver", "steatotic liver disease", "Fatty Liver", "Fatty liver", "fatty liver", "Steatohepatitis", "alcoholic fatty liver", "Hepatic Steatosis"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/MONDO_0004790", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Inflammation of the liver related to lipid accumulation in fatty liver.;Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS.; UMLS Semantic Type: STY:T047", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "MONDO:0004790", "_id": "MONDO:0004790", "_score": 9.827722, "disease_ontology": {"_license": "https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt", "def": "\"A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.\" [url:https\\://pubmed.ncbi.nlm.nih.gov/27099587/, url:https\\://pubmed.ncbi.nlm.nih.gov/37364816/]", "doid": "DOID:9452", "name": "steatotic liver disease", "synonyms": {"exact": ["alcoholic fatty liver", "Fatty change of liver", "fatty liver disease", "hepatic lipidosis", "hepatic steatosis", "SLD", "Steatosis of liver"]}, "xrefs": {"icd10": "K70.0", "icd9": "571.0", "mesh": ["D005234", "D005235"], "mim": "228100", "snomedct_us_2023_03_01": ["371330000", "50325005"], "umls_cui": ["C0015695", "C0015696"]}}, "mondo": {"mondo": "MONDO:0004790", "synonym": {"exact": ["fatty change of liver", "fatty liver", "hepatic lipidosis", "steatosis of liver"]}, "xrefs": {"doid": ["DOID:9452"], "icd9": ["571.0", "571.8"], "medgen": ["398225"], "mesh": ["D005234"], "sctid": ["197321007", "371330000"], "umls": ["C2711227"]}}, "umls": [{"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C2711227"}, {"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C0015695"}]}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:6582": {"name": "SLC22A2", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["SLC22A2 [plasma membrane]", "SLC22A2 protein, human", "SLC22A2", "SLC22A2 Gene", "solute carrier family 22 member 2 (human)", "SLC22A2 gene"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/6582", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Solute carrier family 22 member 2 (555 aa, ~63 kDa) is encoded by the human SLC22A2 gene. This protein is involved in mediating tubular uptake of organic compounds from the circulation.; UMLS Semantic Type: STY:T116; UMLS Semantic Type: STY:T123", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["DOI:10.1681/asn.v134866", "PMID:16581093", "PMID:9687576", "DOI:10.1089/dna.1997.16.871", "DOI:10.1158/0008-5472.can-06-0769", "DOI:10.1124/jpet.105.088104", "DOI:10.1124/mol.54.2.342", "PMID:16006492", "PMID:15817714", "DOI:10.2133/dmpk.20.379"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "6582", "HGNC": "10966", "MIM": "602608", "_id": "6582", "_score": 27.226904, "alias": "OCT2", "go": {"BP": [{"evidence": "IEA", "gocategory": "BP", "id": "GO:0006811", "qualifier": "involved_in", "term": "monoatomic ion transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006812", "qualifier": "acts_upstream_of_or_within", "term": "monoatomic cation transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0006836", "pubmed": 9687576, "qualifier": "involved_in", "term": "neurotransmitter transport"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0006836", "qualifier": "involved_in", "term": "neurotransmitter transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0006837", "pubmed": [9687576, 16581093], "qualifier": "involved_in", "term": "serotonin transport"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0007589", "pubmed": 9260930, "qualifier": "involved_in", "term": "body fluid secretion"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0015695", "qualifier": "involved_in", "term": "organic cation transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015695", "pubmed": 16024787, "qualifier": "acts_upstream_of_or_within", "term": "organic cation transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015695", "pubmed": [9687576, 22806583, 24291757], "qualifier": "involved_in", "term": "organic cation transport"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0015695", "pubmed": 23864433, "qualifier": "involved_in", "term": "organic cation transport"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0015695", "pubmed": 9260930, "qualifier": "involved_in", "term": "organic cation transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0015697", "qualifier": "involved_in", "term": "quaternary ammonium group transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015732", "pubmed": 11907186, "qualifier": "involved_in", "term": "prostaglandin transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015837", "pubmed": 9687576, "qualifier": "involved_in", "term": "amine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015847", "pubmed": 21128598, "qualifier": "involved_in", "term": "putrescine transport"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0015848", "qualifier": "involved_in", "term": "spermidine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015870", "pubmed": 15817714, "qualifier": "involved_in", "term": "acetylcholine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015871", "pubmed": 9687576, "qualifier": "involved_in", "term": "choline transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015872", "pubmed": 16581093, "qualifier": "involved_in", "term": "dopamine transport"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0015872", "qualifier": "involved_in", "term": "dopamine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015874", "pubmed": [9687576, 16581093], "qualifier": "involved_in", "term": "norepinephrine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042908", "pubmed": [9687576, 22806583, 24291757], "qualifier": "involved_in", "term": "xenobiotic transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0042908", "qualifier": "involved_in", "term": "xenobiotic transport"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0042908", "pubmed": 20477935, "qualifier": "involved_in", "term": "xenobiotic transport"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0042908", "pubmed": 30120945, "qualifier": "involved_in", "term": "xenobiotic transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0048241", "pubmed": 16581093, "qualifier": "involved_in", "term": "epinephrine transport"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0048241", "qualifier": "involved_in", "term": "epinephrine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0051608", "pubmed": 16581093, "qualifier": "involved_in", "term": "histamine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0051610", "pubmed": 9687576, "qualifier": "involved_in", "term": "serotonin uptake"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0051610", "qualifier": "involved_in", "term": "serotonin uptake"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0051615", "pubmed": 9687576, "qualifier": "involved_in", "term": "histamine uptake"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0051620", "pubmed": 9687576, "qualifier": "involved_in", "term": "norepinephrine uptake"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0051620", "qualifier": "involved_in", "term": "norepinephrine uptake"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0055085", "qualifier": "involved_in", "term": "transmembrane transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0071934", "pubmed": 24961373, "qualifier": "involved_in", "term": "thiamine transmembrane transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0071934", "qualifier": "involved_in", "term": "thiamine transmembrane transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0072530", "qualifier": "involved_in", "term": "purine-containing compound transmembrane transport"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0072530", "qualifier": "involved_in", "term": "purine-containing compound transmembrane transport"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0089718", "pubmed": 23864433, "qualifier": "involved_in", "term": "amino acid import across plasma membrane"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0090494", "pubmed": 9687576, "qualifier": "involved_in", "term": "dopamine uptake"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0090494", "qualifier": "involved_in", "term": "dopamine uptake"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0097638", "pubmed": 23864433, "qualifier": "involved_in", "term": "L-arginine import across plasma membrane"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0140115", "pubmed": 9687576, "qualifier": "involved_in", "term": "export across plasma membrane"}, {"evidence": "NAS", "gocategory": "BP", "id": "GO:0150104", "pubmed": [26590417, 30280653], "qualifier": "involved_in", "term": "transport across blood-brain barrier"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:1902475", "pubmed": 23864433, "qualifier": "involved_in", "term": "L-alpha-amino acid transmembrane transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:1903711", "qualifier": "involved_in", "term": "spermidine transmembrane transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:1903826", "qualifier": "involved_in", "term": "L-arginine transmembrane transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:1990748", "pubmed": [9687576, 22806583, 24291757], "qualifier": "involved_in", "term": "cellular detoxification"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:1990748", "qualifier": "involved_in", "term": "cellular detoxification"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:1990748", "pubmed": 20477935, "qualifier": "involved_in", "term": "cellular detoxification"}, {"evidence": "NAS", "gocategory": "BP", "id": "GO:1990962", "pubmed": 20477935, "qualifier": "involved_in", "term": "xenobiotic transport across blood-brain barrier"}], "MF": [{"category": "MF", "evidence": "IDA", "id": "GO:0005275", "pubmed": 9687576, "qualifier": "enables", "term": "amine transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0005277", "pubmed": 15817714, "qualifier": "enables", "term": "acetylcholine transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0005326", "pubmed": [9687576, 16581093], "qualifier": "enables", "term": "neurotransmitter transmembrane transporter activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0005326", "qualifier": "enables", "term": "neurotransmitter transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0008504", "pubmed": [9687576, 12089365, 15212162, 16581093, 17072098, 17460754], "qualifier": "enables", "term": "monoamine transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008504", "qualifier": "enables", "term": "monoamine transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0008514", "pubmed": 11907186, "qualifier": "enables", "term": "organic anion transmembrane transporter activity"}, {"category": "MF", "evidence": "EXP", "id": "GO:0015101", "pubmed": 19141712, "qualifier": "enables", "term": "organic cation transmembrane transporter activity"}, {"category": "MF", "evidence": "IBA", "id": "GO:0015101", "qualifier": "enables", "term": "organic cation transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015101", "pubmed": [9260930, 9687576, 12089365, 12538837, 16024787, 17460754, 21128598, 22806583, 24291757], "qualifier": "enables", "term": "organic cation transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0015101", "qualifier": "enables", "term": "organic cation transmembrane transporter activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0015101", "pubmed": 23864433, "qualifier": "enables", "term": "organic cation transmembrane transporter activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0015101", "pubmed": 9260930, "qualifier": "enables", "term": "organic cation transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015132", "pubmed": 11907186, "qualifier": "enables", "term": "prostaglandin transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0015132", "qualifier": "enables", "term": "prostaglandin transmembrane transporter activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0015179", "pubmed": 23864433, "qualifier": "enables", "term": "L-amino acid transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0015214", "qualifier": "enables", "term": "pyrimidine nucleoside transmembrane transporter activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0015214", "pubmed": 20477935, "qualifier": "enables", "term": "pyrimidine nucleoside transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015220", "pubmed": 9687576, "qualifier": "enables", "term": "choline transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015234", "pubmed": 24961373, "qualifier": "enables", "term": "thiamine transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015489", "pubmed": 21128598, "qualifier": "enables", "term": "putrescine transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0015489", "qualifier": "enables", "term": "putrescine transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015562", "pubmed": 9687576, "qualifier": "enables", "term": "efflux transmembrane transporter activity"}, {"category": "MF", "evidence": "ISS", "id": "GO:0015606", "qualifier": "enables", "term": "spermidine transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015651", "pubmed": 9260930, "qualifier": "enables", "term": "quaternary ammonium group transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0019534", "pubmed": [9687576, 22806583, 24291757], "qualifier": "enables", "term": "toxin transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0019534", "qualifier": "enables", "term": "toxin transmembrane transporter activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0019534", "pubmed": 20477935, "qualifier": "enables", "term": "toxin transmembrane transporter activity"}, {"category": "MF", "evidence": "ISS", "id": "GO:0019534", "pubmed": 30120945, "qualifier": "enables", "term": "toxin transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0022857", "qualifier": "enables", "term": "transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0042910", "pubmed": [12395288, 16394027], "qualifier": "enables", "term": "xenobiotic transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0042910", "qualifier": "enables", "term": "xenobiotic transmembrane transporter activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0042910", "pubmed": 20477935, "qualifier": "enables", "term": "xenobiotic transmembrane transporter activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0061459", "pubmed": 23864433, "qualifier": "enables", "term": "L-arginine transmembrane transporter activity"}]}, "interpro": [{"desc": "Organic cation transport protein/SVOP", "id": "IPR004749", "short_desc": "Orgcat_transp/SVOP"}, {"desc": "Major facilitator, sugar transporter-like", "id": "IPR005828", "short_desc": "MFS_sugar_transport-like"}, {"desc": "Sugar transporter, conserved site", "id": "IPR005829", "short_desc": "Sugar_transporter_CS"}, {"desc": "Major facilitator superfamily domain", "id": "IPR020846", "short_desc": "MFS_dom"}, {"desc": "MFS transporter superfamily", "id": "IPR036259", "short_desc": "MFS_trans_sf"}], "name": "solute carrier family 22 member 2", "pharos": {"target_id": 9422, "tdl": "Tchem"}, "summary": "Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008].", "symbol": "SLC22A2", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:1803": {"name": "DPP4", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["dipeptidyl peptidase 4 (human)", "DPP4(1-766) [plasma membrane]", "DPP4", "DPP4 gene", "DPP4(39-766) [extracellular region]", "DPP4 Gene"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/1803", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Cell surface glycoprotein receptor involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activationActs as a positive regulator of T-cell coactivation, by binding at least ADA, CAV1, IGF2R, and PTPRCIts binding to CAV1 and CARD11 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent mannerIts interaction with ADA also regulates lymphocyte-epithelial cell adhesionIn association with FAP is involved in the pericellular proteolysis of the extracellular matrix (ECM), the migration and invasion of endothelial cells into the ECMMay be involved in the promotion of lymphatic endothelial cells adhesion, migration and tube formationWhen overexpressed, enhanced cell proliferation, a process inhibited by GPC3Acts also as a serine exopeptidase with a dipeptidyl peptidase activity that regulates various physiological processes by cleaving peptides in the circulation, including many chemokines, mitogenic growth factors, neuropeptides and peptide hormones such as brain natriuretic peptide 32Removes N-terminal dipeptides sequentially from polypeptides having unsubstituted N-termini provided that the penultimate residue is proline. (Microbial infection) Acts as a receptor for human coronavirus MERS-CoV-2. Belongs to the peptidase S9B family. DPPIV subfamily.", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["PMID:16335952", "DOI:10.1182/blood-2006-02-001016", "DOI:10.1016/s0171-2985(97)80084-8", "PMID:11772392", "DOI:10.1107/s0907444903010059", "PMID:19054851", "PMID:7907293", "DOI:10.1158/0008-5472.can-05-1245", "PMID:1347043", "DOI:10.1016/s0014-5793(99)01166-7"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "1803", "HGNC": "3009", "MIM": "102720", "_id": "1803", "_score": 27.226904, "alias": ["ADABP", "ADCP2", "CD26", "DPPIV", "TP103"], "go": {"BP": [{"evidence": "IEA", "gocategory": "BP", "id": "GO:0001662", "qualifier": "acts_upstream_of_or_within", "term": "behavioral fear response"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0001666", "pubmed": 16670267, "qualifier": "involved_in", "term": "response to hypoxia"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0006508", "qualifier": "involved_in", "term": "proteolysis"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0006508", "pubmed": 27198182, "qualifier": "involved_in", "term": "proteolysis"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006508", "qualifier": "involved_in", "term": "proteolysis"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0007155", "qualifier": "involved_in", "term": "cell adhesion"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0008284", "pubmed": 17549790, "qualifier": "involved_in", "term": "positive regulation of cell population proliferation"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0010716", "pubmed": 16651416, "qualifier": "involved_in", "term": "negative regulation of extracellular matrix disassembly"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0016486", "qualifier": "involved_in", "term": "peptide hormone processing"}, {"evidence": "NAS", "gocategory": "BP", "id": "GO:0019065", "pubmed": [23831647, 32203189], "qualifier": "involved_in", "term": "receptor-mediated endocytosis of virus by host cell"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0031295", "pubmed": [10900005, 17287217], "qualifier": "involved_in", "term": "T cell costimulation"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0033632", "pubmed": 11772392, "qualifier": "involved_in", "term": "regulation of cell-cell adhesion mediated by integrin"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0035641", "qualifier": "acts_upstream_of_or_within", "term": "locomotory exploration behavior"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0036343", "qualifier": "acts_upstream_of_or_within", "term": "psychomotor behavior"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042110", "pubmed": 7594462, "qualifier": "involved_in", "term": "T cell activation"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0043542", "pubmed": 16651416, "qualifier": "involved_in", "term": "endothelial cell migration"}, {"evidence": "NAS", "gocategory": "BP", "id": "GO:0046718", "pubmed": [23831647, 32203189], "qualifier": "involved_in", "term": "symbiont entry into host cell"}, {"evidence": "NAS", "gocategory": "BP", "id": "GO:0046813", "pubmed": [23831647, 32203189], "qualifier": "involved_in", "term": "receptor-mediated virion attachment to host cell"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0050919", "qualifier": "involved_in", "term": "negative chemotaxis"}, {"evidence": "NAS", "gocategory": "BP", "id": "GO:0061025", "pubmed": [23831647, 32203189], "qualifier": "involved_in", "term": "membrane fusion"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0090024", "pubmed": 23677473, "qualifier": "involved_in", "term": "negative regulation of neutrophil chemotaxis"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0120116", "qualifier": "involved_in", "term": "glucagon processing"}], "MF": [{"category": "MF", "evidence": "IDA", "id": "GO:0001618", "pubmed": 23486063, "qualifier": "enables", "term": "virus receptor activity"}, {"category": "MF", "evidence": "IPI", "id": "GO:0002020", "pubmed": 16651416, "qualifier": "enables", "term": "protease binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0004177", "qualifier": "enables", "term": "aminopeptidase activity"}, {"category": "MF", "evidence": "EXP", "id": "GO:0004252", "pubmed": [8100523, 8798518], "qualifier": "enables", "term": "serine-type endopeptidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0004252", "qualifier": "enables", "term": "serine-type endopeptidase activity"}, {"category": "MF", "evidence": "IPI", "id": "GO:0005102", "pubmed": 10900005, "qualifier": "enables", "term": "signaling receptor binding"}, {"category": "MF", "evidence": "IPI", "id": "GO:0005515", "pubmed": [7594462, 8101391, 14684150, 17287217, 17549790, 18275857, 21314817, 22001206, 23486063, 23831647, 23835475, 25461530, 29669833, 32203189, 32275855, 34903715], "qualifier": "enables", "term": "protein binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008233", "qualifier": "enables", "term": "peptidase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0008236", "pubmed": 14684150, "qualifier": "enables", "term": "serine-type peptidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008236", "qualifier": "enables", "term": "serine-type peptidase activity"}, {"category": "MF", "evidence": "IBA", "id": "GO:0008239", "qualifier": "enables", "term": "dipeptidyl-peptidase activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0008239", "pubmed": [10593948, 14684150, 16651416, 17549790, 27198182], "qualifier": "enables", "term": "dipeptidyl-peptidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008239", "qualifier": "enables", "term": "dipeptidyl-peptidase activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0016787", "qualifier": "enables", "term": "hydrolase activity"}, {"category": "MF", "evidence": "IPI", "id": "GO:0042802", "pubmed": 22001206, "qualifier": "enables", "term": "identical protein binding"}, {"category": "MF", "evidence": "IPI", "id": "GO:0042803", "pubmed": [14684150, 15448155], "qualifier": "enables", "term": "protein homodimerization activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0045499", "pubmed": 23677473, "qualifier": "enables", "term": "chemorepellent activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0045499", "pubmed": 23677473, "qualifier": "enables", "term": "chemorepellent activity"}]}, "interpro": [{"desc": "Peptidase S9, prolyl oligopeptidase, catalytic domain", "id": "IPR001375", "short_desc": "Peptidase_S9_cat"}, {"desc": "Dipeptidylpeptidase IV, N-terminal domain", "id": "IPR002469", "short_desc": "Peptidase_S9B_N"}, {"desc": "Peptidase S9, serine active site", "id": "IPR002471", "short_desc": "Pept_S9_AS"}, {"desc": "Alpha/Beta hydrolase fold", "id": "IPR029058", "short_desc": "AB_hydrolase_fold"}, {"desc": "Serine protease S9B/DPPIV", "id": "IPR050278", "short_desc": "Serine_Prot_S9B/DPPIV"}], "name": "dipeptidyl peptidase 4", "pharos": {"target_id": 4656, "tdl": "Tclin"}, "summary": "The DPP4 gene encodes dipeptidyl peptidase 4, which is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic type II transmembrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. Dipeptidyl peptidase 4 is highly involved in glucose and insulin metabolism, as well as in immune regulation. This protein was shown to be a functional receptor for Middle East respiratory syndrome coronavirus (MERS-CoV), and protein modeling suggests that it may play a similar role with SARS-CoV-2, the virus responsible for COVID-19. [provided by RefSeq, Apr 2020].", "symbol": "DPP4", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "MONDO:0004995": {"name": "cardiovascular disorder", "categories": ["biolink:Disease"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["circulatory disorders", "cardiovascular system disease", "Cardiovascular Disorder", "cardiovascular abnormalities", "Cardiovascular Diseases", "Cardiovascular disease, unspecified", "cardiovascular disease", "cardiovascular disorder", "Cardiovascular Abnormalities", "Abnormality of the cardiovascular system"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/MONDO_0004995", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Any abnormality of the cardiovascular system. [HPO:probinson]; UMLS Semantic Type: STY:T019; UMLS Semantic Type: STY:T047; Any abnormality of the cardiovascular system. // COMMENTS: The cardiovascular system consists of the heart, vasculature, and the lymphatic system.; Any abnormality of the cardiovascular system. // COMMENTS: The cardiovascular system consists of the heart, vasculature, and the lymphatic system.; ; Any abnormality of the cardiovascular system. // COMMENTS: The cardiovascular system consists of the heart, vasculature, and the lymphatic system.", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}], "is_set": false}, "MONDO:0002177": {"name": "hyperinsulinism", "categories": ["biolink:Disease", "biolink:DiseaseOrPhenotypicFeature"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["Hyperinsulinemia", "hyperinsulinism", "hyperinsulinemia", "Hyperinsulinism"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/MONDO_0002177", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "A GLUCOSE-induced HYPERINSULINEMIA, a marker of insulin-resistant state. It is a mechanism to compensate for reduced sensitivity to insulin.;A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.; UMLS Semantic Type: STY:T047", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "MONDO:0002177", "_id": "MONDO:0002177", "_score": 9.827722, "disease_ontology": {"_license": "https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt", "def": "", "doid": "DOID:2018", "name": "hyperinsulinism", "synonyms": {"exact": ["hyperinsulinemia"]}, "xrefs": {"icd10": "E16.1", "mesh": "D006946", "snomedct_us_2023_03_01": "154694003", "umls_cui": "C0020459"}}, "mondo": {"mondo": "MONDO:0002177", "synonym": {"exact": ["hyperinsulinemia", "hyperinsulinism", "hyperinsulinism (disease)"]}, "xrefs": {"doid": ["DOID:2018"], "hp": ["HP:0000842"], "icd9": ["251.1"], "medgen": ["43779"], "mesh": ["D006946"], "sctid": ["83469008"], "umls": ["C0020459"]}}, "umls": {"_license": "https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html", "umls": "C0020459"}}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:222962": {"name": "SLC29A4", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["equilibrative nucleoside transporter 4 (human)", "SLC29A4 protein, human", "SLC29A4", "SLC29A4 Gene", "SLC29A4 [plasma membrane]", "SLC29A4 gene"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/222962", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Electrogenic voltage-dependent transporter that mediates the transport of a variety of endogenous bioactive amines, cationic xenobiotics and drugsUtilizes the physiologic inside-negative membrane potential as a driving force to facilitate cellular uptake of organic cationsFunctions as a Na(+)- and Cl(-)-independent bidirectional transporterSubstrate transport is pH-dependent and enhanced under acidic condition, which is most likely the result of allosteric changes in the transporter structureImplicated in monoamine neurotransmitters uptake such as serotonin, dopamine, adrenaline/epinephrine, noradrenaline/norepinephrine, histamine and tyramine, thereby supporting a role in homeostatic regulation of aminergic neurotransmission in the central nervous systemAlso responsible for the uptake of bioactive amines and drugs through the blood-cerebrospinal fluid (CSF) barrier, from the CSF into choroid plexus epithelial cells, thereby playing a significant role in the clearance of cationic neurotoxins, xenobiotics and metabolic waste in the brain (By similarity). Involved in bidirectional transport of the purine nucleoside adenosine and plays a role in the regulation of extracellular adenosine concentrations in cardiac tissues, in particular during ischemiaMay be involved in organic cation uptake from the tubular lumen into renal tubular cells, thereby contributing to organic cation reabsorption in the kidneyAlso transports guanidine. Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["PMID:20858707", "DOI:10.1093/oxfordjournals.molbev.a004044", "PMID:17018840", "PMID:17121826", "PMID:12446811", "DOI:10.1161/01.res.0000238359.18495.42", "DOI:10.1101/gr.2596504", "DOI:10.1152/ajprenal.00302.2006", "DOI:10.1124/mol.105.016832", "DOI:10.1074/jbc.m407913200"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "222962", "HGNC": "23097", "MIM": "609149", "_id": "222962", "_score": 27.226904, "alias": ["ENT4", "PMAT"], "go": {"BP": [{"evidence": "TAS", "gocategory": "BP", "id": "GO:0001692", "pubmed": 23505051, "qualifier": "acts_upstream_of", "term": "histamine metabolic process"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0006836", "pubmed": 20858707, "qualifier": "involved_in", "term": "neurotransmitter transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006836", "qualifier": "involved_in", "term": "neurotransmitter transport"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0006836", "qualifier": "involved_in", "term": "neurotransmitter transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0006837", "pubmed": [15448143, 17121826, 20592246, 20858707], "qualifier": "involved_in", "term": "serotonin transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006837", "qualifier": "involved_in", "term": "serotonin transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015695", "pubmed": 26376205, "qualifier": "involved_in", "term": "organic cation transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0015844", "qualifier": "involved_in", "term": "monoamine transport"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0015844", "pubmed": 23505051, "qualifier": "involved_in", "term": "monoamine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015872", "pubmed": [15448143, 17121826, 20858707], "qualifier": "involved_in", "term": "dopamine transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0015872", "qualifier": "involved_in", "term": "dopamine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0015874", "pubmed": [15448143, 20858707], "qualifier": "involved_in", "term": "norepinephrine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0032238", "pubmed": [16873718, 20592246, 31537831], "qualifier": "involved_in", "term": "adenosine transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0032238", "qualifier": "involved_in", "term": "adenosine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0042908", "pubmed": [20858707, 26376205], "qualifier": "involved_in", "term": "xenobiotic transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0042908", "qualifier": "involved_in", "term": "xenobiotic transport"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0042908", "pubmed": 31842924, "qualifier": "involved_in", "term": "xenobiotic transport"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0042908", "qualifier": "involved_in", "term": "xenobiotic transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0048241", "pubmed": [15448143, 20858707], "qualifier": "involved_in", "term": "epinephrine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0051608", "pubmed": [16099839, 17018840, 20858707, 22396231], "qualifier": "involved_in", "term": "histamine transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0051610", "pubmed": 20858707, "qualifier": "involved_in", "term": "serotonin uptake"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0051610", "qualifier": "involved_in", "term": "serotonin uptake"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0051610", "qualifier": "involved_in", "term": "serotonin uptake"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0051615", "pubmed": 20858707, "qualifier": "involved_in", "term": "histamine uptake"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0051615", "pubmed": 23505051, "qualifier": "involved_in", "term": "histamine uptake"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0051620", "pubmed": 20858707, "qualifier": "involved_in", "term": "norepinephrine uptake"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0051620", "qualifier": "involved_in", "term": "norepinephrine uptake"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0051620", "qualifier": "involved_in", "term": "norepinephrine uptake"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0051625", "pubmed": 20858707, "qualifier": "involved_in", "term": "epinephrine uptake"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0090494", "pubmed": 20858707, "qualifier": "involved_in", "term": "dopamine uptake"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0090494", "qualifier": "involved_in", "term": "dopamine uptake"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0090494", "qualifier": "involved_in", "term": "dopamine uptake"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0098655", "qualifier": "involved_in", "term": "monoatomic cation transmembrane transport"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0098655", "qualifier": "involved_in", "term": "monoatomic cation transmembrane transport"}, {"evidence": "IMP", "gocategory": "BP", "id": "GO:0140115", "pubmed": 31842924, "qualifier": "involved_in", "term": "export across plasma membrane"}, {"evidence": "NAS", "gocategory": "BP", "id": "GO:0150104", "pubmed": [26590417, 30280653], "qualifier": "involved_in", "term": "transport across blood-brain barrier"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:1901642", "qualifier": "involved_in", "term": "nucleoside transmembrane transport"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:1903825", "pubmed": 26376205, "qualifier": "involved_in", "term": "organic acid transmembrane transport"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:1990748", "qualifier": "involved_in", "term": "cellular detoxification"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:1990748", "qualifier": "involved_in", "term": "cellular detoxification"}], "MF": [{"category": "MF", "evidence": "IDA", "id": "GO:0005326", "pubmed": [15448143, 17018840, 17121826, 20592246, 20858707, 22396231], "qualifier": "enables", "term": "neurotransmitter transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0005326", "qualifier": "enables", "term": "neurotransmitter transmembrane transporter activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0005326", "pubmed": 23505051, "qualifier": "enables", "term": "neurotransmitter transmembrane transporter activity"}, {"category": "MF", "evidence": "ISS", "id": "GO:0005326", "qualifier": "enables", "term": "neurotransmitter transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0005337", "qualifier": "enables", "term": "nucleoside transmembrane transporter activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0005337", "qualifier": "enables", "term": "nucleoside transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0005342", "pubmed": 26376205, "qualifier": "enables", "term": "organic acid transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008324", "qualifier": "enables", "term": "monoatomic cation transmembrane transporter activity"}, {"category": "MF", "evidence": "ISS", "id": "GO:0008324", "qualifier": "enables", "term": "monoatomic cation transmembrane transporter activity"}, {"category": "MF", "evidence": "IBA", "id": "GO:0008504", "qualifier": "enables", "term": "monoamine transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0008504", "pubmed": [15448143, 16099839, 17018840, 17121826, 20592246, 20858707, 22396231], "qualifier": "enables", "term": "monoamine transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008504", "qualifier": "enables", "term": "monoamine transmembrane transporter activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0008504", "pubmed": 23505051, "qualifier": "enables", "term": "monoamine transmembrane transporter activity"}, {"category": "MF", "evidence": "ISS", "id": "GO:0008504", "qualifier": "enables", "term": "monoamine transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015101", "pubmed": [16099839, 26376205], "qualifier": "enables", "term": "organic cation transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0015562", "pubmed": [16099839, 31537831], "qualifier": "enables", "term": "efflux transmembrane transporter activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0015562", "pubmed": 31842924, "qualifier": "enables", "term": "efflux transmembrane transporter activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0019534", "qualifier": "enables", "term": "toxin transmembrane transporter activity"}, {"category": "MF", "evidence": "ISS", "id": "GO:0019534", "qualifier": "enables", "term": "toxin transmembrane transporter activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0042910", "pubmed": 26376205, "qualifier": "enables", "term": "xenobiotic transmembrane transporter activity"}, {"category": "MF", "evidence": "IMP", "id": "GO:0042910", "pubmed": 31842924, "qualifier": "enables", "term": "xenobiotic transmembrane transporter activity"}]}, "interpro": [{"desc": "Equilibrative nucleoside transporter", "id": "IPR002259", "short_desc": "Eqnu_transpt"}, {"desc": "MFS transporter superfamily", "id": "IPR036259", "short_desc": "MFS_trans_sf"}], "name": "solute carrier family 29 member 4", "pharos": {"target_id": 7800, "tdl": "Tchem"}, "summary": "This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014].", "symbol": "SLC29A4", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:2740": {"name": "GLP1R", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["GLP1R protein, human", "glucagon-like peptide 1 receptor (human)", "GLP1R", "GLP1R [plasma membrane]", "GLP1R gene"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/2740", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "G-protein coupled receptor for glucagon-like peptide 1 (GLP-1)Ligand binding triggers activation of a signaling cascade that leads to the activation of adenylyl cyclase and increased intracellular cAMP levelsPlays a role in regulating insulin secretion in response to GLP-1 (By similarity). Belongs to the G-protein coupled receptor 2 family.", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["DOI:10.1371/journal.pone.0032675", "DOI:10.2337/diab.42.11.1678", "PMID:8405712", "PMID:19861722", "DOI:10.1007/s11033-011-1225-0", "DOI:10.1038/nature22378", "DOI:10.1016/j.peptides.2010.09.015", "DOI:10.1021/acs.jmedchem.5b00726", "DOI:10.1016/0014-5793(94)00553-2", "PMID:27196125"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "2740", "HGNC": "4324", "MIM": "138032", "_id": "2740", "_score": 27.226904, "alias": ["GLP-1", "GLP-1-R", "GLP-1R"], "go": {"BP": [{"evidence": "IEA", "gocategory": "BP", "id": "GO:0007165", "qualifier": "involved_in", "term": "signal transduction"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0007166", "qualifier": "involved_in", "term": "cell surface receptor signaling pathway"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0007186", "qualifier": "involved_in", "term": "G protein-coupled receptor signaling pathway"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0007189", "qualifier": "involved_in", "term": "adenylate cyclase-activating G protein-coupled receptor signaling pathway"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0007189", "pubmed": 28514449, "qualifier": "involved_in", "term": "adenylate cyclase-activating G protein-coupled receptor signaling pathway"}, {"evidence": "TAS", "gocategory": "BP", "id": "GO:0007190", "pubmed": 8405712, "qualifier": "involved_in", "term": "activation of adenylate cyclase activity"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0007204", "pubmed": 7589461, "qualifier": "involved_in", "term": "positive regulation of cytosolic calcium ion concentration"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0007611", "qualifier": "involved_in", "term": "learning or memory"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008016", "qualifier": "involved_in", "term": "regulation of heart contraction"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0031204", "qualifier": "acts_upstream_of_or_within", "term": "post-translational protein targeting to membrane, translocation"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0045776", "qualifier": "acts_upstream_of", "term": "negative regulation of blood pressure"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0045777", "qualifier": "involved_in", "term": "positive regulation of blood pressure"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0045777", "qualifier": "involved_in", "term": "positive regulation of blood pressure"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0046879", "qualifier": "acts_upstream_of_or_within_positive_effect", "term": "hormone secretion"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0065008", "qualifier": "involved_in", "term": "regulation of biological quality"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0071377", "qualifier": "involved_in", "term": "cellular response to glucagon stimulus"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:1990911", "qualifier": "involved_in", "term": "response to psychosocial stress"}], "MF": [{"category": "MF", "evidence": "IEA", "id": "GO:0004888", "qualifier": "enables", "term": "transmembrane signaling receptor activity"}, {"category": "MF", "evidence": "TAS", "id": "GO:0004888", "pubmed": 8405712, "qualifier": "enables", "term": "transmembrane signaling receptor activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0004930", "qualifier": "enables", "term": "G protein-coupled receptor activity"}, {"category": "MF", "evidence": "IBA", "id": "GO:0004967", "qualifier": "enables", "term": "glucagon receptor activity"}, {"category": "MF", "evidence": "IEA", "id": "GO:0004967", "qualifier": "enables", "term": "glucagon receptor activity"}, {"category": "MF", "evidence": "IPI", "id": "GO:0005515", "pubmed": [25416956, 32296183], "qualifier": "enables", "term": "protein binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0008528", "qualifier": "enables", "term": "G protein-coupled peptide receptor activity"}, {"category": "MF", "evidence": "IBA", "id": "GO:0017046", "qualifier": "enables", "term": "peptide hormone binding"}, {"category": "MF", "evidence": "IEA", "id": "GO:0038023", "qualifier": "enables", "term": "signaling receptor activity"}, {"category": "MF", "evidence": "IBA", "id": "GO:0044508", "qualifier": "enables", "term": "glucagon-like peptide 1 receptor activity"}, {"category": "MF", "evidence": "IDA", "id": "GO:0044508", "pubmed": 28514449, "qualifier": "enables", "term": "glucagon-like peptide 1 receptor activity"}]}, "interpro": [{"desc": "GPCR, family 2, secretin-like", "id": "IPR000832", "short_desc": "GPCR_2_secretin-like"}, {"desc": "GPCR, family 2, extracellular hormone receptor domain", "id": "IPR001879", "short_desc": "GPCR_2_extracellular_dom"}, {"desc": "GPCR, family 2, glucagon-like peptide-1/glucagon receptor", "id": "IPR003290", "short_desc": "GPCR_2_GLP1/glucagon_rcpt"}, {"desc": "GPCR, family 2, glucagon-like peptide-1 receptor", "id": "IPR003292", "short_desc": "GPCR_2_GLP1_rcpt"}, {"desc": "GPCR, family 2-like, 7TM", "id": "IPR017981", "short_desc": "GPCR_2-like_7TM"}, {"desc": "GPCR, family 2, secretin-like, conserved site", "id": "IPR017983", "short_desc": "GPCR_2_secretin-like_CS"}, {"desc": "GPCR family 2, extracellular hormone receptor domain superfamily", "id": "IPR036445", "short_desc": "GPCR_2_extracell_dom_sf"}, {"desc": "Glucagon-like peptide-1 receptor, 7TM", "id": "IPR047033", "short_desc": "GLP1R_7TM"}, {"desc": "G-protein coupled receptor 2", "id": "IPR050332", "short_desc": "GPCR_2"}], "name": "glucagon like peptide 1 receptor", "pharos": {"target_id": 14655, "tdl": "Tclin"}, "summary": "This gene encodes a 7-transmembrane protein that functions as a receptor for glucagon-like peptide 1 (GLP-1) hormone, which stimulates glucose-induced insulin secretion. This receptor, which functions at the cell surface, becomes internalized in response to GLP-1 and GLP-1 analogs, and it plays an important role in the signaling cascades leading to insulin secretion. It also displays neuroprotective effects in animal models. Polymorphisms in this gene are associated with diabetes. The protein is an important drug target for the treatment of type 2 diabetes and stroke. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016].", "symbol": "GLP1R", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:5465": {"name": "PPARA", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["monoSUMO1-K185-PPARA [nucleoplasm]", "PPARA protein, human", "PPARA Gene", "peroxisome proliferator-activated receptor alpha (human)", "PPARA", "PPARA [nucleoplasm]", "PPARA gene", "Peroxisome Proliferator-Activated Receptor Alpha, human"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/5465", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Ligand-activated transcription factor. Key regulator of lipid metabolism. Activated by the endogenous ligand 1-palmitoyl-2-oleoyl-sn-glycerol-3-phosphocholine (16:0/18:1-GPC). Activated by oleylethanolamide, a naturally occurring lipid that regulates satiety. Receptor for peroxisome proliferators such as hypolipidemic drugs and fatty acids. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as a transcription activator for the ACOX1 and P450 genes. Transactivation activity requires heterodimerization with RXRA and is antagonized by NR2C2. May be required for the propagation of clock information to metabolic pathways regulated by PER2. Belongs to the nuclear hormone receptor family. NR1 subfamily.", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["PMID:8993548", "PMID:11845213", "PMID:19116277", "PMID:19349176", "DOI:10.1074/jbc.275.8.5308", "DOI:10.1021/jm058056x", "DOI:10.1073/pnas.0811325106", "PMID:11915042", "PMID:10195690", "DOI:10.1186/gb-2004-5-10-r84"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "5465", "HGNC": "9232", "MIM": "170998", "_id": "5465", "_score": 27.226904, "alias": ["NR1C1", "PPAR", "PPAR-alpha", "PPARalpha", "hPPAR"], "go": {"BP": [{"evidence": "IBA", "gocategory": "BP", "id": "GO:0000122", "qualifier": "involved_in", "term": "negative regulation of transcription by RNA polymerase II"}, {"evidence": "IDA", "gocategory": "BP", "id": "GO:0000122", "pubmed": [9748239, 12700342], "qualifier": "involved_in", "term": "negative regulation of transcription by RNA polymerase II"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0001666", "qualifier": "involved_in", "term": "response to hypoxia"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006094", "qualifier": "acts_upstream_of", "term": "gluconeogenesis"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006355", "qualifier": "involved_in", "term": "regulation of DNA-templated transcription"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006629", "qualifier": "acts_upstream_of_or_within", "term": "lipid metabolic process"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0006631", "qualifier": "involved_in", "term": "fatty acid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006631", "qualifier": "acts_upstream_of_or_within", "term": "fatty acid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0006631", "qualifier": "involved_in", "term": "fatty acid metabolic process"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0007507", "qualifier": "involved_in", "term": "heart development"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0007584", "qualifier": "involved_in", "term": "response to nutrient"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0007595", "qualifier": "involved_in", "term": "lactation"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0008544", "qualifier": "acts_upstream_of_or_within", "term": "epidermis development"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0009267", "qualifier": "involved_in", "term": "cellular response to starvation"}, {"evidence": "ISS", "gocategory": "BP", "id": "GO:0009267", "qualifier": "involved_in", "term": "cellular response to starvation"}, {"evidence": "IBA", "gocategory": "BP", "id": "GO:0009755", "qualifier": "involved_in", "term": "hormone-mediated signaling pathway"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0010467", 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"Nuclear_hrmn_rcpt"}, {"desc": "Peroxisome proliferator-activated receptor", "id": "IPR003074", "short_desc": "1Cnucl_rcpt"}, {"desc": "Peroxisome proliferator-activated receptor alpha", "id": "IPR003076", "short_desc": "PPAR-alpha"}, {"desc": "Zinc finger, NHR/GATA-type", "id": "IPR013088", "short_desc": "Znf_NHR/GATA"}, {"desc": "Nuclear hormone receptor-like domain superfamily", "id": "IPR035500", "short_desc": "NHR-like_dom_sf"}, {"desc": "Nuclear hormone receptor family NR1 subfamily", "id": "IPR050234", "short_desc": "Nuclear_hormone_rcpt_NR1"}], "name": "peroxisome proliferator activated receptor alpha", "pharos": {"target_id": 10974, "tdl": "Tclin"}, "summary": "Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008].", "symbol": "PPARA", "taxid": 9606, "type_of_gene": "protein-coding"}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "CHEBI:4167": {"name": "D-glucopyranose", "categories": ["biolink:SmallMolecule", "biolink:MolecularMixture", "biolink:ChemicalEntity", "biolink:Drug", "biolink:MolecularEntity"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["500 ML glucose 300 MG/ML Injection", "glucose 4000 MG [Dex4]", "DEXTROSE (D-GLUCOSE)", "glucose 1.7 MG/ML", "glucose 3750 MG", "glucose 0.774 MG/MG Oral Gel", "100 ML glucose 500 MG/ML Injection", "\u03b2-D-Glucose", "Anhydrous Dextrose", "glucose 1000 MG", "Enfamil Glucose", "Enfamil Glucose Oral Liquid Product", "glucose Oral Solution [Dex4]", "glucose Oral Gel [Dex4]", "glucose 0.4 MG/MG Oral Gel 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"metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://purl.obolibrary.org/obo/CHEBI_4167", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Beta-D-Glucose is a primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. A glucoside is a glycoside that is derived from glucose. Glucosides are common in plants, but rare in animals. Glucose is produced when a glucoside is hydrolysed by purely chemical means, or decomposed by fermentation or enzymes. This group contains a benzene and also an ethylene group, being derived from styrolene. Coniferin, C16H22O8, occurs in the cambium of conifer wood. Emulsin converts it into glucose and coniferyl alcohol, while oxidation gives glycovanillin, which yields with emulsin glucose and vanillin. Syringin, which occurs in the bark of Syringe vulgaris, is a methoxyconiferin. Phloridzus occurs in the root-bark of various fruit trees; it hydrolyses to glucose and phloretin, which is the phloroglucin ester of paraoxyhydratropic acid. It is related to the pentosides naringin, C21HEOi1, which hydrolyses to rhamnose and naringenin, the phioroglucin ester of para-oxycinnamic acid, and hesperidin, which hydrolyses to rhamnose and hesperetin, the phloroglucin ester of meta-oxy-para-methoxycinnamic acid or isoferulic acid, C10H10O4. Classification of the glucosides is a matter of some difficulty. One based on the chemical constitution of the non-glucose part of the molecules has been proposed that frames four groups: (I) ethylene derivatives, (2) benzene derivatives, (3) styrolene derivatives, (4) anthracene derivatives. A group may also be made to include the cyanogenetic glucosides, i.e. those containing prussic acid. Other classifications follow a botanical classification, which has several advantages; in particular, plants of allied genera contain similar compounds. In this article the chemical classification will be followed, and only the more important compounds will be discussed here.", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["PMID:193644", "PMID:9406599", "PMID:1828739", "PMID:26176916", "PMID:24587162", "PMID:9836611", "PMID:20014752", "PMID:7031247", "PMID:1260789", "PMID:7299995"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "CHEBI:4167", "_id": "WQZGKKKJIJFFOK-GASJEMHNSA-N", "_score": 10.742553, "chebi": {"_license": "http://bit.ly/2KAUCAm", "definition": "A glucopyranose having D-configuration.", "id": "CHEBI:4167", "iupac": "D-glucopyranose", "name": "D-glucopyranose", "relationship": {"has_role": ["CHEBI:77746", "CHEBI:75772", "CHEBI:76971", 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{"code": "B", "name": "BLOOD AND BLOOD FORMING ORGANS"}, "level2": {"code": "B05", "name": "BLOOD SUBSTITUTES AND PERFUSION SOLUTIONS"}, "level3": {"code": "B05C", "name": "IRRIGATING SOLUTIONS"}, "level4": {"code": "B05CX", "name": "Other irrigating solutions"}, "level5": {"code": "B05CX01", "name": "glucose"}}, {"level1": {"code": "V", "name": "VARIOUS"}, "level2": {"code": "V06", "name": "GENERAL NUTRIENTS"}, "level3": {"code": "V06D", "name": "OTHER NUTRIENTS"}, "level4": {"code": "V06DC", "name": "Carbohydrates"}, "level5": {"code": "V06DC01", "name": "glucose"}}]}], "value_url": null, "attributes": null, "description": null, "value_type_id": null, "attribute_source": null, "attribute_type_id": "biothings_annotations", "original_attribute_name": null}], "is_set": false}, "NCBIGene:3767": {"name": "KCNJ11", "categories": ["biolink:Gene", "biolink:Protein"], "attributes": [{"attribute_type_id": "biolink:synonym", "original_attribute_name": null, "value": ["KCNJ11 gene", "KCNJ11", "KCNJ11 protein, human", "KCNJ11 [plasma membrane]", "ATP-sensitive inward rectifier potassium channel 11 (human)"], "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": "Names of all nodes in this synonym set in RTX-KG2.", "attributes": null}, {"attribute_type_id": "biolink:IriType", "original_attribute_name": null, "value": "http://identifiers.org/ncbigene/3767", "value_type_id": "metatype:Uri", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:description", "original_attribute_name": null, "value": "Inward rectifier potassium channel that forms the pore of ATP-sensitive potassium channels (KATP), regulating potassium permeability as a function of cytoplasmic ATP and ADP concentrations in many different cellsInward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium (By similarity). In pancreatic cells, it forms KATP channels with ABCC8/SUR1Can form cardiac and smooth muscle-type KATP channels with ABCC9. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ11 subfamily.", "value_type_id": "metatype:String", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["DOI:10.1074/jbc.m117.804971", "PMID:16429405", "DOI:10.1093/hmg/ddi086", "PMID:20022885", "PMID:29286281", "PMID:15998776", "PMID:7502040", "DOI:10.1038/ng1285", "DOI:10.1210/jc.2005-0096", "PMID:16357843"], "value_type_id": "biolink:Uriorcurie", "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": null}, {"value": [{"query": "3767", "HGNC": "6257", "MIM": "600937", "_id": "3767", "_score": 27.226904, "alias": ["BIR", "HHF2", "IKATP", "KIR6.2", "MODY13", "PHHI", "PNDM2", "TNDM3"], "go": {"BP": [{"evidence": "IEA", "gocategory": "BP", "id": "GO:0001508", "qualifier": "acts_upstream_of_or_within", "term": "action potential"}, {"evidence": "IEA", "gocategory": "BP", "id": "GO:0001666", "qualifier": 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"Initial trials for preventing the progression of early diabetes used immunosuppressive agents, including prednisone, cyclosporine, azathioprine, and antithymocyte globulin.|NA|Of note, El-Khalawany et?al observed that treatment of associated diseases (including chronic gastritis, diabetes mellitus, chronic hepatitis C virus infection, and chronic kidney disease) increased the time of remission and decreased the rate of relapse in their EAE patients treated with prednisone alone or in conjunction with cyclosporine or hydroxychloroquine.|NA|The aim of this study was to assess the safety of a weight based insulin algorithm for persons treated with supra-physiological doses of steroids to examine the efficacy of using this algorithm in patients with diabetes treated with prednisone or methylprednisolone.|NA|The study population included patients between 18 and 79?years of age with diabetes, hospitalized for at least 48?h, and receiving supraphysiologic doses of corticosteroids (prednisone???10?mg/day or equivalent) orally or intravenously.|NA|A was 52-years-old white woman with history of hypertension, diabetes, rheumatoid arthritis treated with corticoid (prednisone 10mg/day) was evaluated in our department with complains of recurrent infections and maxillary bone exposure.|NA", "value_type_id": null, "original_attribute_name": "sentences", "value_url": null, "attribute_source": null, "description": null, "attributes": []}, {"attribute_type_id": "biolink:knowledge_level", "value": "not_provided", "value_type_id": null, "original_attribute_name": "knowledge_level", "value_url": null, "attribute_source": null, "description": null, "attributes": []}]}, "b2b7cf8572d5": {"subject": "CHEBI:8382", "object": "MONDO:0005015", "predicate": "biolink:treats_or_applied_or_studied_to_treat", "sources": [{"resource_id": "infores:automat-robokop", "resource_role": "primary_knowledge_source", "upstream_resource_ids": [], "source_record_urls": null}, {"resource_id": 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"infores:automat-robokop", "resource_role": "aggregator_knowledge_source", "upstream_resource_ids": ["infores:text-mining-provider-targeted"], "source_record_urls": null}, {"resource_id": "infores:text-mining-provider-targeted", "resource_role": "primary_knowledge_source", "upstream_resource_ids": [], "source_record_urls": null}, {"resource_id": "infores:aragorn", "resource_role": "aggregator_knowledge_source", "upstream_resource_ids": ["infores:automat-robokop"], "source_record_urls": null}], "qualifiers": null, "attributes": [{"attribute_type_id": "biolink:Attribute", "value": "Our patient?s clinical and laboratory presentation met the criteria for DKA, which occurred after two months on a course of high-dose prednisone for hypersensitivity pneumonitis.|NA|Another case report describes a 55-year-old woman with a history of well-controlled type 2 diabetes and a BMI of 48 kg/m2 who presented with DKA one week after she was started on prednisone 40 mg BID for lumbar disc 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{"attribute_type_id": "biolink:Attribute", "value": "The pregnancy was complicated by gestational diabetes and hyperemesis, which were controlled with diet and prednisone, respectively.|NA|In patients without a previous diagnosis of diabetes but who are at high risk of hyperglycemia (family history of diabetes, previous gestational diabetes, pre-diabetes, polycystic ovary syndrome, obesity), we suggest considering assessment of glycemic control daily for those who use doses greater than the equivalent of 40?mg of prednisone daily for periods greater than 7?14?days, although one guideline suggests a more frequent glycemic verification.|NA", "value_type_id": null, "original_attribute_name": "sentences", "value_url": null, "attribute_source": null, "description": null, "attributes": []}, {"attribute_type_id": "biolink:Attribute", "value": 0.7178086088532064, "value_type_id": null, "original_attribute_name": "tmkp_confidence_score", "value_url": null, "attribute_source": null, 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"original_attribute_name": "tmkp_ids", "value_url": null, "attribute_source": null, "description": null, "attributes": []}, {"attribute_type_id": "biolink:Attribute", "value": "Our results suggest that prednisone may rebuild the immunologic homeostasis and may be used in human diseases with changes in the imbalance immune system such as unexplained recurrent spontaneous abortion (URSA), hepatitis B infection, or other autoimmune diseases.|NA|The patient received a reduced dose of oral prednisone tablets therapy (20?mg/d) combined with adjuvant drugs to improve microcirculation, nourish nerve, anti-HBV drugs (entecavir 0.5?mg/d), and hepatoprotective drugs (bicyclol 25?mg tid, or polyunsaturated phosphatidylcholine 228?mg tid).|NA|Participants were excluded from this study based on the following criteria: (1) currently diagnosed with diabetes mellitus, coronary heart disease, stroke, hyperthyroidism, rheumatoid arthritis, and cancer; (2) currently diagnosed with hepatitis B virus (determined by the presence of hepatitis B surface antigen); with other hepatitis history and impaired hepatic function (alanine transaminase >2.0 times upper limit of normal); with liver cirrhosis or hepatic carcinoma; (3) taking any kind of medication (such as dehydrocortisone, methotrexate and so on) known to cause fatty liver?s images (images of brightechoes in liver parenchyma) during the previous year; (4) with excessive alcohol consumption (?20 g/d, according to the published report); (5) with incompleted follow-up clinical or laboratory examination, or ultrasound examination.|NA|HBV reactivation in an occult HBV infection patient treated with prednisone for nephrotic syndrome: case report and literature review |NA|The serological tests for hepatitis were consistent with chronic active hepatitis B. 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"861", "publication date": "1988 Jan-Feb", "sentence": "Cyclophosphamide may have fewer risks than extended high-dose prednisone and it has been shown to be more efficacious than corticosteroids in preventing end stage renal failure.", "subject score": "1000"}, "PMID:3002135": {"object score": "769", "publication date": "1985 Sep-Oct", "sentence": "Comparison between doxorubicin-cyclophosphamide and cyclophosphamide-methotrexate-5-fluorouracil-vincristine-prednisone.", "subject score": "888"}, "PMID:31692250": {"object score": "785", "publication date": "2019 Nov 06", "sentence": "The case group received higher doses of prednisone 64/65 (P = .012), mean prednisone dose 18.62 mg/d (+/-1.48, P < .001) and more were exposed to cyclophosphamide (Cyc) (19/65; P < .001) compared to the control group's mean prednisone dose of 11.73 mg/d (+/-1.16); there was Cyc use in 7/130 patients.", "subject score": "1000"}, "PMID:34131000": {"object score": "1000", "publication date": "2021 Jun 15", "sentence": "EXPERIMENTAL DESIGN: We quantified plasma levels of several biomarkers (sCD14, LBP, FABP2, EndoCab IgM, IL-18, CCL2/MCP-1, sCD163, IP-10/CXCL10, TARC/CCL17, TNF-a, BAFF/BLyS, sTNFRII, sCD44, and sIL2Ra/sCD25) by multiplexed immunometric assays (Luminex) or ELISA in plasma specimens obtained from ARL patients enrolled in the AMC-034 trial, which compared infusional combination chemotherapy (EPOCH: etoposide, vincristine doxorubicin, cyclophosphamide and prednisone) with concurrent or sequential rituximab.", "subject score": "1000"}, "PMID:6344715": {"object score": "1000", "publication date": "1983 Jul", "sentence": "After a mean follow-up of 85 months, cyclophosphamide appears marginally superior to prednisone for maintaining renal function (p = 0.03) and preventing end-stage renal failure (p = 0.07).", "subject score": "1000"}, "PMID:6370428": {"object score": "888", "publication date": "1984 Apr", "sentence": "Alternating pulses of vincristine-prednisone with cytarabine-cyclophosphamide versus vincristine-prednisone in the maintenance therapy of acute lymphoblastic leukemia.", "subject score": "888"}, "PMID:6421344": {"object score": "1000", "publication date": "1984 Mar", "sentence": "A randomized controlled trial was initiated in 1972 to compare two chemotherapeutic regimens [1-3-bis (2-chloroethyl) 1-nitrosourea (BCNU), cyclophosphamide, and prednisone versus melphalan and prednisone], to determine whether the two regimens are cross-resistant, and to evaluate the effectiveness of sodium fluoride, vitamin D, calcium gluconate, and fluoxymesterone in the promotion of bone healing.", "subject score": "1000"}, "PMID:6991106": {"object score": "1000", "publication date": "1980 Jan", "sentence": "Comparison of two combination chemotherapy regimens for multiple myeloma: methyl-CCNU, cyclophosphamide, and prednisone versus melphalan and prednisone.", "subject score": "1000"}, "PMID:7687667": {"object score": "1000", "publication date": "1993 Aug", "sentence": "PURPOSE: Based on in vitro evidence that tumor cells are less resistant to prolonged exposure to low concentrations of the natural product class, compared with brief higher concentration exposure, we developed a chemotherapy regimen (etoposide, vincristine, doxorubicin, cyclophosphamide, and prednisone [EPOCH]) in which the natural products are administered as a continuous infusion.", "subject score": "1000"}, "PMID:8024609": {"object score": "1000", "publication date": "1994 Jul", "sentence": "OBJECTIVE: It has been reported that outcomes are improved in patients with severe lupus nephritis treated with combined prednisone and intravenous cyclophosphamide, compared with those treated with prednisone alone.", "subject score": "888"}, "PMID:9118039": {"object score": "1000", "publication date": "1997 Apr 15", "sentence": "BACKGROUND: The Eastern Cooperative Oncology Group (ECOG) performed a Phase III comparison of melphalan and prednisone (MP) with vincristine, carmustine (BCNU), melphalan, cyclophosphamide, and prednisone (VBMCP) in an attempt to determine which of these regimens should be the standard treatment for multiple myeloma.", "subject score": "1000"}}, "value_type_id": null, "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": []}, {"attribute_type_id": "biolink:knowledge_level", "value": "prediction", "value_type_id": null, "original_attribute_name": null, "value_url": null, "attribute_source": "infores:rtx-kg2", "description": null, "attributes": []}]}, "d9954a311955": {"subject": "CHEBI:8382", "object": "CHEBI:4026", "predicate": "biolink:coexists_with", "sources": [{"resource_id": "infores:semmeddb", "resource_role": "primary_knowledge_source", "upstream_resource_ids": [], "source_record_urls": null}, {"resource_id": "infores:aragorn", "resource_role": "aggregator_knowledge_source", "upstream_resource_ids": ["infores:rtx-kg2"], "source_record_urls": null}, 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"2000 May 01", "sentence": "Cyclophosphamide, vincristine, procarbazine, prednisone, doxorubicin, bleomycin, and vinblastine (C-MOPP/ABV) is a hybrid chemotherapy in which cyclophosphamide is substituted for mechlorethamine, an agent that has been implicated as the cause of secondary malignancies.", "subject score": "1000"}, "PMID:12451339": {"object score": "1000", "publication date": "2002 Nov", "sentence": "Cyclophosphamide associated with prednisone considerably improves the prognosis, especially when initiated early in the course of the disease.", "subject score": "1000"}, "PMID:12481906": {"object score": "1000", "publication date": "2002 Oct", "sentence": "The disease was refractory to treatment with high doses of prednisone and vincristine but complete response was achieved after treatment with caldribine combined with cyclophosphamide.", "subject score": "1000"}, "PMID:12743154": {"object score": "1000", "publication date": "2003 May 15", "sentence": "Three prior Southwest 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"publication date": "2006 Jun", "sentence": "Recently, prednisone combined with azathioprine or cyclophosphamide has been used.", "subject score": "1000"}, "PMID:17688843": {"object score": "1000", "publication date": "2007 Aug", "sentence": "Although prednisone combined with cyclophosphamide induces remission and prolongs survival in these diseases, this regimen is toxic and does not prevent relapse.", "subject score": "1000"}, "PMID:18470902": {"object score": "840", "publication date": "2008 Jul 15", "sentence": "CONCLUSIONS: For patients with LGNHL, first-line cladribine alone or cladribine and cyclophosphamide combination regimens both provided similar treatment responses, acceptable toxicity, and better response rates than cyclophosphamide, vincristine, and prednisone combination.", "subject score": "888"}, "PMID:18651550": {"object score": "888", "publication date": "2008 Jul-Aug", "sentence": "The other cohort received prednisone combined with intravenous CYC (750 mg/m2 body 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"subject score": "888"}, "PMID:22956434": {"object score": "888", "publication date": "2013", "sentence": "METHODS: We conducted a randomized prospective cohort study in IMN patients: 28 patients received oral TAC (target whole blood concentration of 2-4 ng/mL) plus prednisone for 12 months, and 28 patients received prednisone combined with intravenous cyclophosphamide (CYC) (750 mg/m2 body surface) once every 4 weeks for 24 weeks.", "subject score": "1000"}, "PMID:2328322": {"object score": "1000", "publication date": "1990 Apr 15", "sentence": "Fifty-eight patients were prepared for transplantation with a combination of cyclophosphamide and fractionated total body irradiation (FTBI) and received acute graft-versus-host disease (GVHD) prophylaxis consisting of methotrexate alone or in combination with cyclosporine, prednisone, or antithymocyte globulin (ATG).", "subject score": "1000"}, "PMID:24002446": {"object score": "1000", "publication date": "2013 Nov 14", "sentence": "IMGN529 was highly active against subcutaneous B-cell tumor xenografts in severe combined immunodeficient mice with comparable or better activity than rituximab, a combination of cyclophosphamide, vincristine, and prednisone, or bendamustine.", "subject score": "1000"}, "PMID:28690527": {"object score": "1000", "publication date": "2017 May-Aug", "sentence": "Retreatment with trastuzumab as a single agent led to worsening of symptoms and required a second course of treatment with prednisone combined with cyclophosphamide, which was followed by improvement of symptoms.", "subject score": "1000"}, "PMID:28712941": {"object score": "790", "publication date": "2017 Aug", "sentence": "The most common grade 3 or 4 adverse event during the combination and maintenance phase was neutropenia (55 [18%] of 312 patients in the GP2013-CVP group and 65 [21%] of 315 patients in the R-CVP group in the combination phase and 17 [7%] of 231 patients in the GP2013-CVP group and nine [4%] of 231 patients in the 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onto the study received reduced doses of cyclophosphamide and doxorubicin, combined with vincristine and prednisone (modified CHOP [mCHOP]), whereas the subsequent 25 patients entered onto the study received full doses of CHOP combined with granulocyte colony-stimulating factor (G-CSF).", "subject score": "1000"}, "PMID:12743154": {"object score": "1000", "publication date": "2003 May 15", "sentence": "Three prior Southwest Oncology Group trials using a regimen of cyclophosphamide, doxorubicin, vincristine, and prednisone or a combination of prednisone, vincristine, methotrexate, cytarabine, cyclophosphamide, etoposide, nitrogen mustard, vincristine, procarbazine, and prednisone in similar patient populations demonstrated comparable clinical outcome, although the 4-year survival for FN was better.", "subject score": "1000"}, "PMID:15209465": {"object score": "1000", "publication date": "2004 Mar", "sentence": "The patient was treated successfully with a combination of cyclophosphamide and prednisone, after other immunomodulatory strategies, aside from systemic prednisone, had failed.", "subject score": "1000"}, "PMID:15494430": {"object score": "888", "publication date": "2005 Feb 15", "sentence": "Overall and complete response rates were 81% and 41% in the R-CVP arm versus 57% and 10% in the CVP arm, respectively (P < .0001).", "subject score": "861"}, "PMID:15521207": {"object score": "1000", "publication date": "2004 Aug", "sentence": "The patient was treated with a combination of prednisone (1 mg/kg/24 hrs) with cyclophosphamide (2 mg/kg/24 hrs) for six months.", "subject score": "1000"}, "PMID:15799681": {"object score": "1000", "publication date": "2005", "sentence": "The recommended treatment for high-risk patients (i.e. patients with ocular, genital, laryngeal, esophageal or nasopharyngeal involvement) is a combination of prednisone and cyclophosphamide, or alternatively azathioprine.", "subject score": "1000"}, "PMID:17152333": {"object score": "1000", 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score": "1000"}, "PMID:20885306": {"object score": "1000", "publication date": "2011", "sentence": "METHODS: One hundred patients who recently completed CTX for lung cancer, colorectal cancer, or lymphoma rated symptoms on an electronic patient care monitor system prior to ambulatory care visits.", "subject score": "802"}, "PMID:214971": {"object score": "901", "publication date": "1978", "sentence": "[Comparative study of the effectiveness of N-nitrosomethylurea and 1-(2-chloroethyl)-3-cyclohexyl-1-nitrosourea combined with cyclophosphane in inoperable lung cancer].", "subject score": "1000"}, "PMID:22743031": {"object score": "1000", "publication date": "2013 Jan", "sentence": "The presence of lung cancer significantly correlated with male sex (p=0.011), presence of anti-Scl70 antibodies (p=0.0007), cyclophosphamide therapy (p=0.0001), forced vital capacity (FVC) <75% (p=0.0001), and lung fibrosis (p=0.0127); moreover patients with cancer have a significantly lower age at the diagnosis of SSc (p=0.009) and longer disease duration (p=0.0175).", "subject score": "888"}, "PMID:229601": {"object score": "901", "publication date": "1979 Oct 31", "sentence": "Combination chemotherapy with adriamycin, cyclophosphamide, methotrexate and vincristine in lung cancer patients with extensive disease.", "subject score": "1000"}, "PMID:23510803": {"object score": "824", "publication date": "2013 Jun", "sentence": "METHODS: Data from all consecutive lung cancer patients treated with neoadjuvant RTx/CTx and thoracotomy between 08/2000 and 06/2012 were analysed.", "subject score": "790"}, "PMID:23514943": {"object score": "901", "publication date": "2013 Mar", "sentence": "[Correlation of the levels of the bone turnover markers BAP and beta-CTX with bone metastasis progress in lung cancer patients].", "subject score": "861"}, "PMID:25286158": {"object score": "1000", "publication date": "2014", "sentence": "In contrast, CTX and DOX, although efficacious in the lung cancer models caused significant weight loss, and organ toxicity.", "subject score": "1000"}, "PMID:28533161": {"object score": "1000", "publication date": "2017 08", "sentence": "Future studies are warranted to determine if symptom clusters change over a cycle of CTX in patients with lung cancer.", "subject score": "1000"}, "PMID:30768960": {"object score": "1000", "publication date": "2019 May", "sentence": "CONCLUSION: Findings provide insights into the most common symptom clusters in patients with lung cancer undergoing CTX.", "subject score": "1000"}, "PMID:31433700": {"object score": "1000", "publication date": "2020 Jan", "sentence": "Methods: Cost simulations comparing prophylaxis with PEG-OBI at failure rates of 1-10% versus assured prophylaxis in cycle 1 of chemotherapy were performed for panels of 10,000 patients with lung cancer treated with cyclophosphamide, doxorubicin, and etoposide (1 analysis) or non-Hodgkin lymphoma (NHL) treated with CHOP or CNOP (2 analyses).", "subject 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"Effects of pioglitazone and rosiglitazone combined with metformin on body weight in people with diabetes.", "subject score": "1000"}, "PMID:22411919": {"object score": "1000", "publication date": "2012 Mar 12", "sentence": "ELIGIBILITY CRITERIA: Randomised controlled trials of adults with type 2 diabetes mellitus that compared a DPP-4 with metformin as monotherapy or with a sulfonylurea, pioglitazone, a glucagon-like peptide-1 (GLP-1) agonist, or basal insulin combined with metformin on the change from baseline in glycated haemoglobin (HbA(1c)).", "subject score": "1000"}, "PMID:22677076": {"object score": "1000", "publication date": "2012 Jun", "sentence": "Study 2 was a secondary analysis of a double-blind randomized controlled study conducted between August 19, 2005, and August 24, 2010, that included 25 individuals with untreated diabetes or impaired fasting glucose who were randomized to receive placebo (n=13) or a combination of metformin, 1000 mg twice daily, and pioglitazone, 45 mg daily (n=12), for 3 months.", "subject score": "1000"}, "PMID:23554750": {"object score": "1000", "publication date": "2012 May", "sentence": "Drug treatment was initiated on the d 15, with the combination regimen of metformin, pioglitazone and glimipiride or metformin and sitagliptin or sitagliptin, amitriptyline and sitagliptin and led to significantly improved glycemic control, increased grip strength and paw jumping response on d 21, 28 and 35 (P < 0.001).", "subject score": "1000"}, "PMID:24579487": {"object score": "1000", "publication date": "2013 Jan-Mar", "sentence": "RESULTS: Glibenclamide, metformin, and metformin/glimepiride combination were regularly prescribed by 45.64-87.25% of the physicians but gliclazide, pioglitazone, pioglitazone/metformin and pioglitazone/glimepiride combinations were prescribed occasionally by 41.61-61.74% of them.", "subject score": "1000"}, "PMID:28323503": {"object score": "1000", "publication date": "2017 Nov", "sentence": "The aim of the study was to evaluate whether dipeptidyl peptidase-4 (DPP-4) inhibitor alogliptin (ALO) alone or in combination with pioglitazone (PIO) improves ?-cell function along with insulin resistance (IR) in metformin (MET) treated obese women with PCOS with persistent IR.", "subject score": "1000"}, "PMID:28539704": {"object score": "1000", "publication date": "2017", "sentence": "We enrolled 176 individuals with type 2 diabetes, which were divided into four treatment groups according to different oral drugs: metformin alone, sitagliptin alone, pioglitazone alone, or combination of metformin and sitagliptin.", "subject score": "786"}, "PMID:34918367": {"object score": "1000", "publication date": "2021 Dec 16", "sentence": "A significant increase in the mean BMI was also observed in pioglitazone vs placebo (MD: +2.59 kg/m2; 95% CI: 1.78, 3.38, I2= 0%) and in rosiglitazone vs metformin (MD: +0.80 kg/m2; 95% CI: 0.32, 1.27, I2= 3%).", "subject score": "1000"}, "PMID:36660586": {"object 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"Treatment of insulin resistance in diabetes mellitus.", "subject score": "1000"}, "PMID:15666577": {"object score": "1000", "publication date": "2004 Sep", "sentence": "This may aggravate insulin resistance and the abnormal metabolism in diabetes mellitus.", "subject score": "1000"}, "PMID:15912796": {"object score": "1000", "publication date": "2005 Apr", "sentence": "We report beneficial effects of pioglitazone on insulin resistance in diabetes mellitus accompanied with myotonic dystrophy (DM1).", "subject score": "1000"}, "PMID:16050945": {"object score": "1000", "publication date": "2005 Sep", "sentence": "Subcutaneous microdialysis before and after an oral glucose tolerance test: a method to determine insulin resistance in the subcutaneous adipose tissue in diabetes mellitus.", "subject score": "1000"}, "PMID:16199914": {"object score": "1000", "publication date": "2005 Oct", "sentence": "Cardiovascular diseases, including hypertension, diabetes mellitus, and hyperlipidemia are 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"subject score": "1000"}, "PMID:18492218": {"object score": "901", "publication date": "2008", "sentence": "Subjects with metabolic syndrome--a constellation of cardiovascular risk factors of which central obesity and insulin resistance are the most characteristic--are at increased risk for developing diabetes mellitus and cardiovascular disease.", "subject score": "1000"}, "PMID:18854761": {"object score": "1000", "publication date": "2008 Nov", "sentence": "CONCLUSION: Elevated UAE predicts the 9-year risk of diabetes mellitus in men, independent of baseline or early development of metabolic abnormalities or insulin resistance.", "subject score": "1000"}, "PMID:19187069": {"object score": "1000", "publication date": "2009 Mar", "sentence": "The available data provide an understanding of chronic HCV whereby chronic inflammatory processes, steatosis and IR contribute to each other, leading to an increased risk of DM, and its associated poor outcomes, in persons with chronic HCV.", 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mellitus within the Indian context; 2) Diabetes mellitus is an important public health priority requiring urgent preventive action as there are about 97,752 persons in Puducherry who have either been diagnosed with diabetes or remain undiagnosed for the disease.", "subject score": "1000"}, "PMID:20831373": {"object score": "1000", "publication date": "2011 Mar", "sentence": "Therefore, the aims of this study are to evaluate the knowledge of dental and medical practitioners concerning the effects of diabetes on periodontal health and to find out if the practitioners are aware of the bidirectional relationship between periodontal diseases and DM.", "subject score": "1000"}, "PMID:21886953": {"object score": "1000", "publication date": "2011 Jul", "sentence": "OBJECTIVE: To determine whether DM alters the demographic, clinical, and radiological manifestations of tuberculosis and whether the effect of diabetes varies with the age group of PTB patients.", "subject score": "1000"}, 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the lack of effect of ischemic conditioning strategies in diabetes.", "subject score": "1000"}, "PMID:30169672": {"object score": "1000", "publication date": "2018 11 01", "sentence": "However, little is known about protein glycosylation changes occurring in diabetes mellitus in ovarian tissues despite the well-known influence of diabetes on the outcome of successful embryo implantation.", "subject score": "1000"}, "PMID:30213773": {"object score": "888", "publication date": "2018 Oct", "sentence": "AIM: To investigate the fasting pattern of patients with Diabetes Mellitus in Brunei Darussalam, specifically, their fasting activities, and knowledge and practice in relation to diabetes control during fasting in Ramadan.", "subject score": "1000"}, "PMID:31372126": {"object score": "888", "publication date": "2019 Jul-Aug", "sentence": "Thyroid auto immune antibodies in children with Type-I Diabetes mellitus in relation to diabetes control.", "subject score": "1000"}}, "value_type_id": 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control in obese and nonobese patients with NIDDM.", "subject score": "888"}, "PMID:15251750": {"object score": "901", "publication date": "1998 Mar-Apr", "sentence": "CONCLUSION: Improvement in glycosylated hemoglobin level in insulin-using patients with NIDDM can be obtained with combination oral therapy alone, combination oral therapy with once-daily evening insulin, or twice-daily mixed insulin with metformin in comparison with twice-daily insulin alone.", "subject score": "1000"}, "PMID:16107611": {"object score": "1000", "publication date": "2005 Dec", "sentence": "In addition, the effect of insulin was enhanced when supplemented with metformin compared to insulin alone (52% vs. 40%).", "subject score": "1000"}, "PMID:17596475": {"object score": "1000", "publication date": "2007 Jul", "sentence": "Treatment with metformin compared with insulin (the Metformin in Gestational Diabetes [MiG] trial).", "subject score": "1000"}, "PMID:18184530": {"object score": "861", "publication 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"PMID:19709150": {"object score": "1000", "publication date": "2009 Aug", "sentence": "CONCLUSIONS: Women with GDM treated with metformin and with similar baseline risk factors for adverse pregnancy outcomes had less weight gain and improved neonatal outcomes compared with those treated with insulin.", "subject score": "1000"}, "PMID:20129254": {"object score": "1000", "publication date": "2009 Dec", "sentence": "RESULTS: In overweight patients, metformin has been associated with reductions in risk for all-cause mortality and stroke compared with insulin and sulfonylureas.", "subject score": "1000"}, "PMID:21083860": {"object score": "1000", "publication date": "2011 Jun", "sentence": "OBJECTIVE: To examine if oral metformin is as effective as insulin in the prevention of fetal macrosomy in pregnancies complicated with gestational diabetes mellitus (GDM).", "subject score": "888"}, "PMID:21163428": {"object score": "1000", "publication date": "2010 Dec", "sentence": "Regarding oral antidiabetic agents (glibenclamide or metformin), despite the absence of difference found on foetal or maternal prognosis compared to insulin, they should not be prescribed during pregnancy at this time.", "subject score": "1000"}, "PMID:21523768": {"object score": "1000", "publication date": "2011 Nov 15", "sentence": "RESULTS: Chemotherapy with metformin (Group A) produced superior results compared with insulin (Group B) and compared with drugs other than metformin and insulin (Group C) in terms of both progression-free survival (PFS) (8.4 months vs 4.7 months vs 6.4 months, respectively; P = .002) and overall survival (OS) (20.0 months vs 13.1 months vs 13.0 months, respectively; P = .007).", "subject score": "1000"}, "PMID:21575798": {"object score": "1000", "publication date": "2011 Jun", "sentence": "Glyburide and metformin have been shown to be as effective as insulin for the treatment of gestational diabetes.", "subject score": "1000"}, "PMID:21679232": {"object score": "1000", "publication date": "2011 Sep", "sentence": "CONCLUSIONS: In routine practice, use of metformin in gestational diabetes was associated with fewer adverse outcomes compared with insulin, but baseline differences between treatment groups may have contributed to this.", "subject score": "1000"}, "PMID:21901702": {"object score": "1000", "publication date": "2011 Sep 07", "sentence": "SU (with or without metformin) gave poorer metabolic control compared to insulin alone (mean difference in glycosylated haemoglobin A1c (HbA1c) from baseline to end of study, for insulin compared to oral therapy: -1.3% (95% confidence interval (CI) -2.4 to -0.1; P = 0.03, 160 participants, four studies, follow-up/duration of therapy: 12, 30, 36 and 60 months; however, heterogeneity was considerable).", "subject score": "1000"}, "PMID:22048751": {"object score": "1000", "publication date": "2012 Feb", "sentence": "The time taken for the commencement of NO production is shorter for metformin than for insulin; the clinical relevance of this finding is unclear.", "subject score": "1000"}, "PMID:22517929": {"object score": "1000", "publication date": "2012 Apr 19", "sentence": "REVIEW METHODS: Two authors independently screened titles and abstracts for randomised clinical trials comparing metformin and insulin versus insulin alone (with or without placebo) in patients with type 2 diabetes, older than 18 years, and with an intervention period of at least 12 weeks.", "subject score": "1000"}, "PMID:22744627": {"object score": "1000", "publication date": "2012", "sentence": "The aim of this study was to compare the metabolic effects of metformin and insulin on hyperglycaemia in ICU patients.", "subject score": "1000"}}, "value_type_id": null, "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": []}, {"attribute_type_id": "biolink:agent_type", "original_attribute_name": null, "value": "text_mining_agent", "value_type_id": null, "attribute_source": 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"RESULTS: Metformin (0.5 and 1.0 mM) increased glucose uptake in the presence of 0.16 nM insulin by 37 +/- 10% (p < 0.005) and 62 +/- 8% (p < 0.0001) over insulin alone, respectively.", "subject score": "1000"}, "PMID:16006730": {"object score": "1000", "publication date": "2005 Jun", "sentence": "With regard to the type of therapy, the BNP levels were significantly lower in the combinations of both sulfonylurea and metformin and sulfonylurea and pioglitazone than those in insulin alone.", "subject score": "1000"}, "PMID:16932311": {"object score": "888", "publication date": "2006 Jun", "sentence": "Metformin improves hepatic insulin action without affecting HCL levels, whereas insulin infusion for 67 h increases HCL levels by approximately 18%; furthermore, HCL levels positively correlate with the insulin dosage in insulin-treated type 2 diabetes.", "subject score": "1000"}, "PMID:1834486": {"object score": "1000", "publication date": "1991 May", "sentence": "What has been established, however, since the beginning of its clinical use, is that metformin can act in the presence of insulin in \"facilitating\" its effects.", "subject score": "1000"}, "PMID:19080232": {"object score": "1000", "publication date": "2008 Nov", "sentence": "The levels of FBG, PBG and HbA1c significantly reduced after treatment with metformin only in 43 cases (17.7%), metformin combined with other oral hypoglycemic drugs in 124 cases (51.0%) and metformin combined with insulin in 76 cases (31.3%).", "subject score": "1000"}, "PMID:19950754": {"object score": "851", "publication date": "2009 Sep-Oct", "sentence": "Stimulated CP levels correlated best with all the parameters of glycaemic control in the group SU+MET (r -0.479 to -0.791; p < 0.01), and in the group SU+INS (r 0.382 to 0.635; p < 0.01).", "subject score": "851"}, "PMID:20002081": {"object score": "1000", "publication date": "2009 Dec", "sentence": "There were no clear correlations between metformin plasma concentrations 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levels in the absence and presence of insulin in hepatocytes from both non-diabetic and diabetic donors, metformin and AICAR increased gluconeogenic enzyme levels in hepatocytes from non-diabetic individuals, but nevertheless diminished gluconeogenic enzyme levels in insulin-treated hepatocytes from diabetic donors.", "subject score": "1000"}, "PMID:25609400": {"object score": "802", "publication date": "2015 Jan 21", "sentence": "Four secondary outcomes were better for metformin in metformin v insulin, and one was worse for metformin in metformin v glibenclamide.", "subject score": "1000"}, "PMID:25951940": {"object score": "1000", "publication date": "2016 06", "sentence": "In the initial month after diagnosis, almost all (92%) were treated with insulin (30%), metformin (31%), or a combination of insulin and metformin (32%); 7% were treated with lifestyle modification alone.", "subject score": "1000"}, "PMID:26177483": {"object score": "1000", "publication date": "2014", "sentence": "One benefit of GLP-1 receptor agonists is that they do not cause hypoglycemia when combined with metformin or thiazolidinediones, but the dose of concomitant sulphonylurea or insulin may have to be decreased to reduce the risk of hypoglycemic episodes.", "subject score": "1000"}, "PMID:28334683": {"object score": "1000", "publication date": "2017 08", "sentence": "Treatment of preadipocytes in vitro with 4-HNE reduced their adipogenesis and increased proliferation, even in the presence of metformin, which was partially rescued by the presence of insulin.", "subject score": "1000"}, "PMID:28609547": {"object score": "840", "publication date": "2017 10", "sentence": "Frequency of nocturnal hypoglycaemia was significantly decreased in CSII + Metformin as compared with CSII alone (0.6% vs 1.8%) and in MDI + Metformin as compared with MDI alone (1.6% vs 2.3%), with the highest frequency observed in MDI alone and the lowest in CSII + Metformin (all between group P < .001).", "subject score": "833"}, "PMID:29670844": {"object score": "1000", "publication date": "2018 Mar", "sentence": "Conclusion: Taken together, our results suggest that metformin and CaD could protect against the onset of HFFr diet-induced NAFLD in an insulin and AMPK-independent manner, without any marked additional benefits of their combination.", "subject score": "1000"}, "PMID:30608001": {"object score": "1000", "publication date": "2019 May", "sentence": "This investigation was conducted to evaluate comparison of myo-inositol and metformin on glycemic control, lipid profiles, and gene expression related to insulin and lipid metabolism in women with polycystic ovary syndrome (PCOS).", "subject score": "1000"}}, "value_type_id": null, "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": []}, {"attribute_type_id": "biolink:agent_type", "original_attribute_name": null, "value": "text_mining_agent", "value_type_id": null, "attribute_source": 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"sentence": "BACKGROUND: In a prospective observational study of 42 pregnancies in 39 Caucasian women (age 30 +/- 4 years) with polycystic ovary syndrome (PCOS), we examined effects of metformin on maternal insulin, insulin resistance (IR), insulin secretion (IS), weight gain, development of gestational diabetes (GD), testosterone and plasminogen activator inhibitor activity.", "subject score": "1000"}, "PMID:16210009": {"object score": "840", "publication date": "2005 Oct", "sentence": "CONCLUSION(S): Besides systemic effects, the ovulation inducing action of metformin may at least partially be due to direct effects on insulin signaling intermediates and follicular growth patterns in the ovary.", "subject score": "1000"}, "PMID:16219007": {"object score": "1000", "publication date": "2005 Nov", "sentence": "The biguanide, metformin, sensitizes the liver to the effect of insulin, suppressing hepatic glucose output.", "subject score": "1000"}, "PMID:16776753": {"object score": "1000", "publication date": "2006 Jul", "sentence": "On the contrary, in the per protocol (PP) population, moxonidine statistically significantly (p = 0.025) decreased the AUC for insulin from baseline in the PP population; for metformin, the treatment effect on insulin was a small, net increase resulting in a statistically significant between-group difference of 16.2% (95% CI = 0.1-35.0).", "subject score": "1000"}, "PMID:17077202": {"object score": "694", "publication date": "2006 Oct", "sentence": "The limited effectiveness of metformin in older persons may reflect age-related differences in insulin action and secretion.", "subject score": "1000"}, "PMID:17259403": {"object score": "888", "publication date": "2007 Feb", "sentence": "We further hypothesize that the diabetes-preventive effect of metformin may interact with the impact of these variants on insulin regulation.", "subject score": "1000"}, "PMID:17914032": {"object score": "623", "publication date": "2008 Jan", "sentence": 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"1000"}, "PMID:21307134": {"object score": "632", "publication date": "2011 May", "sentence": "The metabolic status modulates the effect of metformin on the antimullerian hormone-androgens-insulin interplay in obese women with polycystic ovary syndrome.", "subject score": "1000"}, "PMID:21465524": {"object score": "888", "publication date": "2011 May", "sentence": "These findings provide evidence for a novel role of AMPK on PTEN expression and thus suggest a possible mechanism by which metformin may contribute to its beneficial effects on insulin signaling.", "subject score": "1000"}, "PMID:23823111": {"object score": "1000", "publication date": "2013 Oct", "sentence": "In 1 patient, metformin failed to control the glucose level, and insulin was administered.No significant toxicity from metformin was seen.", "subject score": "1000"}, "PMID:24307947": {"object score": "694", "publication date": "2013", "sentence": "In this study, we compared the effects of a potent antioxidant, grape seed proanthocyanidins (GSP), and an insulin sensitizer, metformin (MET), in high-fat-fructose-diet- (HFFD-) induced albino Wistar rat model of NAFLD.", "subject score": "1000"}, "PMID:24595965": {"object score": "888", "publication date": "2014 May", "sentence": "OBJECTIVES: To investigate the possible effect of metformin on insulin concentrations in umbilical cord blood and the possible association between maternal and fetal insulin concentrations.", "subject score": "1000"}, "PMID:25245021": {"object score": "575", "publication date": "2014", "sentence": "Metformin is an AMPK agonist potentiating insulin actions in the adult human muscle, but not in the aged individuals.", "subject score": "1000"}, "PMID:25813773": {"object score": "1000", "publication date": "2015 Jul", "sentence": "OBJECTIVE: This study determined the effects of insulin versus liraglutide therapy on liver fat in patients with type 2 diabetes inadequately controlled with oral agents therapy, including metformin.", 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"biolink:supporting_text", "original_attribute_name": null, "value": {"PMID:10428734": {"object score": "1000", "publication date": "1999 Aug 03", "sentence": "For patients who received placebo, the insulin dose increased 22.8 units (CI, 11 to 44 units) or 29% more than did the dose for patients who received metformin (P = 0.002); for these patients, the insulin dose decreased slightly.", "subject score": "888"}, "PMID:15090799": {"object score": "1000", "publication date": "2004 Feb 20", "sentence": "OBJECTIVE: To determine whether exercise training in combination with metformin improves cardiovascular risk indices and insulin in comparison to metformin alone among HIV-infected patients.", "subject score": "1000"}, "PMID:15506677": {"object score": "1000", "publication date": "2004 Sep", "sentence": "OBJECTIVE: To study the efficacy of insulin versus metformin in adolescents with type 2 diabetes mellitus (DM2) and examine whether psychosocial factors affect therapeutic efficacy.", "subject score": "1000"}, "PMID:16294070": {"object score": "1000", "publication date": "2005 Aug", "sentence": "The purpose of this study was to compare the peripheral metabolic effects of insulin and metformin in severe burn patients.", "subject score": "1000"}, "PMID:16443869": {"object score": "1000", "publication date": "2006 Feb", "sentence": "CONCLUSIONS: Patients with type 2 diabetes exposed to sulfonylureas and exogenous insulin had a significantly increased risk of cancer-related mortality compared with patients exposed to metformin.", "subject score": "888"}, "PMID:19104375": {"object score": "1000", "publication date": "2009 Jan", "sentence": "TABULATION, INTEGRATION, AND RESULTS: Two trials compared insulin to glyburide; one trial compared insulin, glyburide, and acarbose; and one trial compared insulin to metformin.", "subject score": "1000"}, "PMID:22077396": {"object score": "1000", "publication date": "2012 Mar", "sentence": "RESULTS: We observed (i) significantly higher mean levels of 8-OHdG and protein carbonyls in whole unstimulated saliva of patients with diabetes compared to controls, (ii) higher mean levels of protein carbonyls in type 1 diabetes as well as higher mean levels of 8-OHdG and protein carbonyls in type 2 diabetes compared to controls, (iii) elevated levels of protein carbonyls in diet-controlled patients and in patients with diabetes on insulin and metformin, (iv) elevated levels of 8-OHdG in patients on metformin, and (v) significant associations between subjects with DM and salivary 8-OHdG and protein carbonyls.", "subject score": "1000"}, "PMID:23076984": {"object score": "1000", "publication date": "2012 Nov", "sentence": "Subjects who initiated with sulfonylurea had a significantly (P < 0.001) higher incidence of insulin addition (2.8% vs. 1.4%) compared to those initiated with metformin within 1 year of follow-up.", "subject score": "853"}, "PMID:25205223": {"object score": "1000", "publication date": "2015 Jan", "sentence": "Sulfonylurea in combination with insulin is associated with increased mortality compared with a combination of insulin and metformin in a retrospective Danish nationwide study.", "subject score": "1000"}, "PMID:25308229": {"object score": "1000", "publication date": "2014", "sentence": "The authors conclude that when compared with the addition of SU the addition of insulin to metformin is associated with an elevated risk of a cardiovascular endpoint.", "subject score": "1000"}, "PMID:26992090": {"object score": "1000", "publication date": "2016 Jun", "sentence": "AIM: To evaluate glycemic control among women with gestational diabetes mellitus (GDM) under insulin versus metformin (with or without insulin supplementation), and to identify metformin poor responders requiring supplemental insulin.", "subject score": "1000"}, "PMID:27549367": {"object score": "1000", "publication date": "2017 Aug", "sentence": "In order to prove the safety and efficacy of metformin used in pregnancy, we searched several databases for the reports of randomized trials comparing insulin and metformin used in GDM and conducted a meta-analysis.", "subject score": "1000"}, "PMID:27817155": {"object score": "851", "publication date": "2017 02", "sentence": "Insulin was required in six comparator women vs none in the study group (eight vs two required metformin).", "subject score": "1000"}, "PMID:28334683": {"object score": "1000", "publication date": "2017 08", "sentence": "Within the T2DM group, preadipocytes from combined metformin and insulin treated subset showed better in vitro adipogenesis compared to metformin alone, which was associated with less presence of macrophages and 4-HNE in the adipose tissues.", "subject score": "1000"}, "PMID:29847739": {"object score": "1000", "publication date": "2018 Dec", "sentence": "In line with these findings, differentiated glucose transporter 4 (GLUT4)-overexpressing myotubes treated with 2 mmol/L glutamate displayed significantly increased GLUT4 translocation when compared with the control condition (159% +/- 8% of control, P < 0.001) and to an extent similar to that of insulin and metformin (181% +/- 7% and 159% +/- 12%, respectively).", "subject score": "1000"}, "PMID:30008760": {"object score": "1000", "publication date": "2018 Apr", "sentence": "Conclusions: Considering the quality and longevity of evidence, compared to insulin monotherapy, insulin combined with metformin and pioglitazone has the best and worst profiles, respectively.", "subject score": "1000"}, "PMID:30541506": {"object score": "1000", "publication date": "2018 Dec 12", "sentence": "The primary aim is to compare the effect of insulin and metformin versus insulin and placebo on composite adverse neonatal outcomes, comprising perinatal mortality, preterm delivery, neonatal hypoglycemia, hyperbilirubinemia, large-for-gestational age small for gestational age, low birth weight, and/or birth trauma.", "subject score": "1000"}, "PMID:30843327": {"object score": "1000", "publication date": "2019 Jul", "sentence": "For severe episodes, the incidence for sulphonylurea (0.09) was similar to metformin (0.07) and incretin-based therapy (0.07); for insulin the risk remained almost 5 times higher than metformin [incidence 0.32; IRR 4.55 (1.28-16.20), P = 0.019].", "subject score": "1000"}, "PMID:31087796": {"object score": "1000", "publication date": "2019 Oct", "sentence": "In low-quality evidence in adults, meta-analyses demonstrated that metformin was better than placebo for BMI (MD -0.48 [-0.94, -0.02], P = 0.04); metformin was better than COCP for fasting insulin (MD 4.00 [2.59, 5.41], P = 0.00001), whereas COCP was better than metformin for irregular cycles (MD 12.49 [1.34, 116.62], P = 0.03).", "subject score": "888"}, "PMID:31638433": {"object score": "1000", "publication date": "2019 Oct 22", "sentence": "The effect of Acarbose on glycemic variability in patients with type 2 diabetes mellitus using premixed Insulin compared 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"1000", "publication date": "2005 Jul", "sentence": "Use of metformin and sulphonylureas was associated with a significantly decreased risk of any fracture, whereas a non-significant trend towards decreased risk of any fracture was associated with the use of insulin.", "subject score": "1000"}, "PMID:16978371": {"object score": "833", "publication date": "2006 Oct", "sentence": "CONCLUSION: Metformin can effectively improve glycaemic control and reduce the total daily insulin dose in overweight people with Type 1 diabetes.", "subject score": "1000"}, "PMID:18210765": {"object score": "888", "publication date": "2007", "sentence": "Metformin significantly reduced fasting insulin (p=0.04), body weight (p=0.026), body mass index (BMI) (p=0.022), waist circumference (p=0.022) and gamma glutamyl transpeptidase (gamma-GT) (p=0.039), while rosiglitazone decreased blood pressure (systolic: p = 0.05, mean: p = 0.03) and alkaline phosphatase (ALP) (p =0.001) compared to baseline values.", 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May", "sentence": "CONCLUSIONS/INTERPRETATION: Metformin reduces insulin-dose requirement in type 1 diabetes but it is unclear whether this is sustained beyond 1 year and whether there are benefits for cardiovascular and other key clinical outcomes.", "subject score": "1000"}, "PMID:20095143": {"object score": "1000", "publication date": "2009 Dec", "sentence": "We concluded that long-term treatment of high dose MF cannot only significantly decrease serum concentrations of leptin and insulin, but also increase E2 and P in OVX SD rats.", "subject score": "901"}, "PMID:20573187": {"object score": "888", "publication date": "2010 Jun 23", "sentence": "Based on six trials with placebo or no treatment controls, metformin reduced fasting insulin (WMD -8.94 mU/L; CI -13.0, -4.90), triglycerides (WMD -42.87 mg/dL; CI -73.3, -12.5), body mass index (WMD -0.70 kg/m2; CI -1.09, -0.31) and waist-to-hip ratio (WMD -0.02; CI -0.03, 0.00).", "subject score": "1000"}, "PMID:20617302": {"object score": 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"publication date": "2005 Mar", "sentence": "EEG abnormalities with and without relation to severe hypoglycaemia in adolescents with type 1 diabetes.", "subject score": "1000"}, "PMID:16932312": {"object score": "851", "publication date": "2006 Jun", "sentence": "DIAGNOSIS: Severe, recurrent hypoglycemia and glycemic lability associated with type 1 diabetes.", "subject score": "1000"}, "PMID:17559427": {"object score": "888", "publication date": "2007 Sep", "sentence": "METHODS: Serial plasma concentrations of ET were measured in 20 patients with Type 1 diabetes during controlled hypoglycaemia induced by intravenous infusion of soluble insulin.", "subject score": "1000"}, "PMID:19833577": {"object score": "1000", "publication date": "2010", "sentence": "OBJECTIVE: To report a case that substantiates the presence of hypoglycemia at the time of death of a young man with type 1 diabetes, who was found unresponsive in his undisturbed bed in the morning.", "subject score": "1000"}, 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alprazolam, flunitrazepam, nifedipine, testosterone, and quinidine) and paclitaxel, tolbutamide, S-mephenytoin, and bufuralol as CYP2C8, CYP2C9, CYP2C19, and CYP2D6 probes, respectively.", "subject score": "1000"}, "PMID:22510709": {"object score": "888", "publication date": "2012 Jul 01", "sentence": "Stress is a critical player in CYP3A, CYP2C, and CYP2D regulation: role of adrenergic receptor signaling pathways.", "subject score": "1000"}, "PMID:22998042": {"object score": "1000", "publication date": "2013 Feb", "sentence": "Genotyping related information may be supportive especially for drugs that are predominantly metabolized by CYP2C19 or CYP2D6.", "subject score": "1000"}, "PMID:23593983": {"object score": "694", "publication date": "2013 Nov", "sentence": "In dog intestine, as with human intestine, CLint values for almost all human CYP1A2, CYP2C, CYP2D6 substrates were not determined because they were very low.", "subject score": "1000"}, "PMID:23974699": {"object score": "1000", "publication date": "2013 Dec", "sentence": "Cytochrome P450 (CYP) 1A2, CYP2C9, CYP2C19, CYP2D6, and CYP3A are major factors involved in the metabolism of clinically prescribed drugs.", "subject score": "1000"}, "PMID:24828975": {"object score": "1000", "publication date": "2014 Jun", "sentence": "The N-demethylation was catalyzed by CYP2B6, CYP2C19, CYP2D6, and CYP3A4, the aromatic hydroxylation by CYP2C19 and CYP2D6, and the aliphatic hydroxylation was catalyzed by CYP1A2, CYP2B6, CYP2C19, and CYP3A4.", "subject score": "1000"}, "PMID:32134850": {"object score": "888", "publication date": "2020 Mar/Apr", "sentence": "The Influence of Combined CYP2D6 and CYP2C19 Genotypes on Venlafaxine and O-Desmethylvenlafaxine Concentrations in a Large Patient Cohort.PURPOSE: The antidepressant venlafaxine is largely O-desmethylated by CYP2D6, whereas CYP2C19 mediates an alternative metabolic route of venlafaxine through N-desmethylation.", "subject score": "1000"}, "PMID:35928758": 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proton-pump inhibitors metabolized by CYP2C19, and beta blockers and several antipsychotics and antidepressants metabolized by CYP2D6.", "subject score": "1000"}, "PMID:22998042": {"object score": "1000", "publication date": "2013 Feb", "sentence": "Genotyping related information may be supportive especially for drugs that are predominantly metabolized by CYP2C19 or CYP2D6.", "subject score": "1000"}, "PMID:23974699": {"object score": "1000", "publication date": "2013 Dec", "sentence": "Cytochrome P450 (CYP) 1A2, CYP2C9, CYP2C19, CYP2D6, and CYP3A are major factors involved in the metabolism of clinically prescribed drugs.", "subject score": "1000"}, "PMID:26276083": {"object score": "1000", "publication date": "2015 Nov 04", "sentence": "Studies showed the involvement of CYP1A2, CYP2B6, CYP2C19, and CYP3A4 in N-dealkylation of all three compounds and additionally CYP2D6 for lefetamine and NEDPA.", "subject score": "861"}, "PMID:27414183": {"object score": "851", "publication date": 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"RESULTS: Sinomenine (50 micromol/l) had no significant effects on the activities of CYP1A2, CYP3A4, CYP2C9, CYP2E1, and CYP2D6, but it decreased the activity of CYP2C19 by 69% (p=0.012) in human microsomes.", "subject score": "1000"}, "PMID:19029318": {"object score": "1000", "publication date": "2009 Feb", "sentence": "In pilot experiments, voriconazole showed inhibition of CYP2B6, CYP2C9, CYP2C19, and CYP3A (half-maximal [50%] inhibitory concentrations, <6 microM); its effect on CYP1A2, CYP2A6, CYP2C8, and CYP2D6 was marginal (<25% inhibition at 100 microM voriconazole).", "subject score": "1000"}, "PMID:19629022": {"object score": "1000", "publication date": "2009", "sentence": "METHODS: Reversible inhibition of CYP1A2, CYP2A6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, and CYP3A4, and mechanism-based inhibition of CYP2C9, CYP2C19, CYP2D6, and CYP3A activity by desvenlafaxine and venlafaxine were determined in human liver microsomes.", "subject score": "1000"}, "PMID:21047200": {"object score": "888", "publication date": "2010 Oct", "sentence": "Adjustments were made for calendar time, average tamoxifen dose, age, the indication for tamoxifen, CYP2D6 genotype and concomitant use of CYP2C19 inhibitors or inducers.", "subject score": "888"}, "PMID:26885078": {"object score": "1000", "publication date": "2015", "sentence": "It indicated that the Radix Sophorae Flavescentis may induce the activities of CYP2D6, and inhibit of CYP2C19, CYP1A2 and CYP2C9 of rats.", "subject score": "1000"}, "PMID:27198207": {"object score": "872", "publication date": "2016 12", "sentence": "Lower concentrations of endoxifen and endoxifen/4-hydroxytamoxifen ratios were seen with impaired CYP2C9 (P = .05 and P = .03, respectively) if patients had the same CYP2D6 phenotype and were not taking a CYP2D6 or CYP2C19 inhibitor.", "subject score": "851"}, "PMID:32751996": {"object score": "1000", "publication date": "2020 Jul 31", "sentence": "Quercetin and its metabolites (quercetin-3'-sulfate, 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substrates of human CYP2 family enzymes are reported, together with those of a small number of CYP2A6, CYP2C19 and CYP2D6 inhibitors.", "subject score": "1000"}, "PMID:19629022": {"object score": "1000", "publication date": "2009", "sentence": "METHODS: Reversible inhibition of CYP1A2, CYP2A6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, and CYP3A4, and mechanism-based inhibition of CYP2C9, CYP2C19, CYP2D6, and CYP3A activity by desvenlafaxine and venlafaxine were determined in human liver microsomes.", "subject score": "1000"}, "PMID:21876481": {"object score": "762", "publication date": "2011 Aug 29", "sentence": "Competitive inhibition was found for the MSE-treated CYP2D6 inhibition assay, whereas non-competitive inhibition was shown in inhibition assays using CYP3A4, CYP1A2 and CYP2C19.", "subject score": "1000"}, "PMID:26191268": {"object score": "1000", "publication date": "2015", "sentence": "Continuous intragastric administration for 7 days may induce the activities of CYP2C19 of rats, inhibit CYP1A2 and slightly inhibit CYP2B6 and CYP2D6 of rats.", "subject score": "1000"}, "PMID:26770539": {"object score": "1000", "publication date": "2015", "sentence": "Acute paraquat poisoning may induce the activities of CYP2C19, and inhibit of CYP2B6, CYP2C9, CYP2D6 and CYP3A4 in rats.", "subject score": "1000"}, "PMID:27867264": {"object score": "828", "publication date": "2016 Oct-Dec", "sentence": "SUMMARY: Bangpungtongseong-san inhibited the activities of human microsomal CYP1A2, CYP2C19, CYP2E1, and UGT1A1, with a negligibly inhibition on the activities of CYP2B6, CYP2C9, CYP2D6, CYP3A4, UGT1A4, and UGT2B7Ojeok-san (OJS) inhibited the CYP1A2 and CYP2D6 mediated metabolism while showing a comparatively weak inhibition against CYP2B6, CYP2C9, CYP2C19, CYP2E1, CYP3A4, and UGT1A1 in human microsomesOyaksungi-san (OYSGS) inhibited the activities of human microsomal CYP2D6, with a relatively weak inhibition on the activities of CYP1A2, CYP2B6, CYP2C9, CYP2C19, CYP2E1, CYP3A4, UGT1A1, and UGT2B7OJS showed no inhibition on the activities of human microsomal UGT1A4 and UGT2B7, and OYSGS did not affect the human microsomal UGT1A4 activity.", "subject score": "1000"}, "PMID:28774812": {"object score": "1000", "publication date": "2017 Nov 15", "sentence": "In contrast, G. uralensis strongly inhibited CYP2B6 and moderately inhibited CYP2C8, CYP2C9 and CYP2C19, and G. inflata strongly inhibited CYP2C enzymes and moderately inhibited CYP1A2, CYP2B6, CYP2D6, and CYP3A4 (midazolam).", "subject score": "888"}, "PMID:29693712": {"object score": "1000", "publication date": "2018 Apr 25", "sentence": "These data suggest that intravenous rolapitant is not an inhibitor of CYP3A, CYP2C9, CYP2C19, or CYP1A2 but is a moderate inhibitor of CYP2D6.", "subject score": "1000"}, "PMID:30680158": {"object score": "1000", "publication date": "2019 Jan", "sentence": "Picralima nitida inhibited CYP3A4 (IC 50 = 45.58 MUg/ml) and CYP2C19 (IC 50 = 73.06 MUg/ml) moderately but strongly 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"sentence": "Premenopausal female patients with IDDM develop CAD almost as often as male diabetics with IDDM of the same age--a situation in sharp contrast to that in nondiabetics, with a large excess of CAD in men.", "subject score": "827"}, "PMID:17942684": {"object score": "756", "publication date": "2007 Oct 23", "sentence": "A high-ranking candidate, the zinc transporter ZnT8 (Slc30A8), was targeted by autoantibodies in 60-80% of new-onset T1D compared with <2% of controls and <3% type 2 diabetic and in up to 30% of patients with other autoimmune disorders with a T1D association.", "subject score": "861"}, "PMID:2190776": {"object score": "806", "publication date": "1990 May", "sentence": "beta-Cell function (plasma C-peptide) in 17 fibrocalculous pancreatic diabetic (FCPD) subjects (14 newly diagnosed) was not different at presentation from that in 14 matched insulin-dependent diabetic subjects.", "subject score": "725"}, "PMID:21984582": {"object score": "1000", "publication 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remain unclear, and studies of bone mineral density in type 1 diabetics have yielded conflicting results.", "subject score": "1000"}, "PMID:10951864": {"object score": "793", "publication date": "1999 Oct", "sentence": "High C-peptide levels revealed an incorrectly assessed diagnosis of type 1 diabetes in 16.7% diabetics and low C-peptide values on fasting and postporandial values were at variance with the diagnosis of type 2 diabetes in 6% of the group.", "subject score": "1000"}, "PMID:11908709": {"object score": "861", "publication date": "2002 Feb", "sentence": "In particular, a C to A substitution at position 3408 in the CTS mouse creates a new GATA family binding site, which may be responsible for the lower incidence of type 1 diabetes in the NOD.", "subject score": "1000"}, "PMID:1241846": {"object score": "764", "publication date": "1975 Nov 20", "sentence": "Two of 34 insulin dependent diabetics (5.9%) were positive with antithyroglobulin antibodies and ten (29.4%) were positive with antimicrosomal antibodies compared to 2.3% and 4.4% respectively in 473 insulin independent diabetics.", "subject score": "906"}, "PMID:1345171": {"object score": "764", "publication date": "1992 Nov", "sentence": "Using a mostly French data set, evidence for linkage of INS to IDDM was recently obtained but only in male meioses (suggesting involvement of maternal imprinting) and only in HLA-DR4-positive diabetics.", "subject score": "1000"}, "PMID:14500624": {"object score": "861", "publication date": "2003 Oct 01", "sentence": "To determine whether a diabetes-associated NOD chromosomal locus (i.e., Idd) was responsible for this defect, LPS-stimulated macrophages from several recombinant congenic inbred mice with Idd loci on a C57BL/6 background or with different combinations of NOD and CBA genomic segments were screened for IL-12p40 production.", "subject score": "694"}, "PMID:1490834": {"object score": "660", "publication date": "1992 Nov", "sentence": "The authors 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diabetic and control Caucasian individuals.", "subject score": "1000"}, "PMID:17376821": {"object score": "790", "publication date": "2007 Apr", "sentence": "Studies are currently under way to determine whether HLA-A2.1-restricted IGRP peptides can be used in a tolerance-inducing protocol that inhibits T1D development in NOD.", "subject score": "916"}, "PMID:17888130": {"object score": "888", "publication date": "2007 Oct", "sentence": "CONCLUSIONS: Training sessions on Type 1 diabetes, an increase in the number of nurses, better availability of resources from diabetic associations to schools and improved communication between school personnel and parents were identified as key factors that may improve the full integration of the diabetic child in this setting.", "subject score": "1000"}, "PMID:20565248": {"object score": "780", "publication date": "2010 Sep", "sentence": "METHODS: In this study the influence of a single nucleotide polymorphism at position -786 in the eNOS gene, where there is a C/T base substitution, on development of type 1 diabetes mellitus (T1DM) and its microvascular complications was studied in 249 British Caucasian type 1 diabetics using a case-control association design.", "subject score": "1000"}, "PMID:22281881": {"object score": "890", "publication date": "2011 Oct-Dec", "sentence": "DKA may be the first manifestation of type 1 diabetes and can also occur in type 2 diabetics depending on the state of insulin sufficiency/secretion.", "subject score": "1000"}, "PMID:24917576": {"object score": "790", "publication date": "2014 Nov", "sentence": "Our results demonstrate that mast cells are not involved in T1D in the NOD strain, making their role in this process nonessential and excluding them as potential therapeutic targets.", "subject score": "1000"}, "PMID:2502369": {"object score": "790", "publication date": "1989 Jun 20", "sentence": "14C-Arachidonic acid uptake was measured in platelets obtained from 15 insulin-dependent diabetic and 17 control subjects and in 12 streptozotocin-diabetic and 21 control rats.", "subject score": "923"}, "PMID:2540781": {"object score": "840", "publication date": "1989 Feb", "sentence": "This contrasts with the activity in IDDM and nonobese NIDDM patients (where the G6Pase/GK ratio is elevated and normal, respectively) and would suggest that in the obese diabetic subjects, hepatic glucose production is not a major factor contributing to the maintenance of hyperglycemia in the overnight fasting state (leaving peripheral insulin resistance as the major cause of hyperglycemia).", "subject score": "1000"}, "PMID:25621692": {"object score": "872", "publication date": "2015 Jan", "sentence": "The identification of type 1 diabetes in diabetic subjects receiving insulin therapy is sometimes difficult.", "subject score": "1000"}, "PMID:26791362": {"object score": "861", "publication date": "2016", "sentence": "Studying Type 1 Diabetes (T1D) in the nonobese diabetic (NOD) mouse model can be cumbersome as onset of disease does not usually occur naturally prior to the age of 12-14 weeks and is often restricted to female mice.", "subject score": "900"}, "PMID:29226576": {"object score": "966", "publication date": "2017 Dec 01", "sentence": "IDDM and prior revascularization were independent predictors of deferred lesion failure FFR predicts outcomes, but is a less effective predictor in diabetics due to diffuse atherosclerosis microvascular disease.", "subject score": "1000"}}, "value_type_id": null, "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": []}, {"attribute_type_id": "biolink:agent_type", "original_attribute_name": null, "value": "text_mining_agent", "value_type_id": null, "attribute_source": "infores:rtx-kg2", "value_url": null, "description": null, "attributes": []}, {"attribute_type_id": "biolink:publications", "original_attribute_name": null, "value": ["PMID:10875321", "PMID:10951864", "PMID:11908709", "PMID:1241846", 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{"object score": "775", "publication date": "2004", "sentence": "Of the approximately 16 million diabetics in the United States, about 1.5 million suffer from type 1 diabetes.", "subject score": "1000"}, "PMID:15579616": {"object score": "888", "publication date": "2004 Dec", "sentence": "A 46 year old man with longstanding type 1 diabetes developed major weight loss and marked deterioration in diabetic control.", "subject score": "923"}, "PMID:1746243": {"object score": "872", "publication date": "1991", "sentence": "Since motor, sensory and autonomic alterations often did not coexist in NIDD, it was possible to find at least one type of involvement in most of the diabetic subjects.", "subject score": "923"}, "PMID:19112404": {"object score": "775", "publication date": "2008 Dec", "sentence": "Type 1 diabetes mellitus is a chronic health condition which affects approximately 750 thousand diabetics in the Czech Republic out of whom 3300 are children at the age of 8-18 years.", "subject score": "1000"}, "PMID:20220668": {"object score": "1000", "publication date": "2010 Feb 25-Mar 10", "sentence": "As I write this piece I must confess to being both an insulin dependent diabetic (or whatever the current politically correct description is), and according to my GP, the second worst controlled diabetic in his surgery.", "subject score": "1000"}, "PMID:2050093": {"object score": "820", "publication date": "1991 Feb", "sentence": "To study the glycaemic effect of various Danish bread types in insulin-dependent diabetic subjects (IDDM) we looked at the incremental blood glucose areas after isocaloric meals of grained wholemeal rye bread, wholemeal bread (graham bread) and white bread in seven C-peptide negative diabetic subjects.", "subject score": "905"}, "PMID:21615267": {"object score": "888", "publication date": "2012", "sentence": "CONCLUSION: The CTLA-4 +49 GG homozygous genotype is associated with T1D in Egyptian children especially with younger age of onset and in younger patients, and not associated with grades of diabetic control or diabetic complication.", "subject score": "1000"}, "PMID:22919445": {"object score": "888", "publication date": "2012 Aug 15", "sentence": "Non-significant associations were found between the frequency HLA-DQB1 alleles and genotypes in T1D in relation to the grade of diabetic control, Microalbuminuria, age, gender, age of presentation, weight, height, frequency of diabetic ketoacidosis (P = 0.42), serum cholesterol, and fasting and post-prandial level of C-peptide (P = 0.83, P = 0.9, respectively).", "subject score": "1000"}, "PMID:23198726": {"object score": "888", "publication date": "2012 Dec 03", "sentence": "This study aimed to identify the relationships between prospective memory and diabetic control in children with T1DM.", "subject score": "1000"}, "PMID:24917576": {"object score": "790", "publication date": "2014 Nov", "sentence": "Our three laboratories have generated independently two strains of mast cell-deficient nonobese diabetic (NOD) mice, NOD.Cpa3(Cre/+) (Heidelberg) and NOD.Kit(W-sh/W-sh) (Leuven and Boston), to address the effects of mast cell deficiency on the development of T1D in the NOD strain.", "subject score": "1000"}, "PMID:25199184": {"object score": "851", "publication date": "2014 Sep 08", "sentence": "Combined therapy of insulin-producing cells and haematopoietic stem cells offers better diabetic control than only haematopoietic stem cells' infusion for patients with insulin-dependent diabetes.", "subject score": "1000"}, "PMID:2785908": {"object score": "888", "publication date": "1989 Apr 01", "sentence": "To assess the possibility of such an interrelationship, we studied parameters relating to mineral metabolism (Ca, P, alkaline phosphatase, Mg, PTH, and hydroxyproline (OHP)); bone remodeling (osteocalcin); diabetic control (HbA1c); and radiological study of the second metacarpal of the left hand and of bone age in 87 children with type 1 DM.", "subject 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Cyp2c genes and to establish a model for studying the functions of CYP2C9 in vivo, we have generated a mouse model with a deletion of the murine Cyp2c gene cluster and a corresponding humanized model expressing CYP2C9 specifically in the liver.", "subject score": "861"}, "PMID:22943175": {"object score": "1000", "publication date": "2012 Oct", "sentence": "The results suggest that glycyrrhetinic acid has the potential to interact with a wide range of xenobiotics or endogenous chemicals that are CYP2C9, CYP2C19 and CYP3A4 substrates.", "subject score": "1000"}, "PMID:22963393": {"object score": "888", "publication date": "2013 Feb", "sentence": "Cynomolgus CYP2C19 exhibits higher activity for DFOH than cynomolgus CYP2C9 although this reaction is a marker reaction of human CYP2C9.", "subject score": "861"}, "PMID:23974699": {"object score": "1000", "publication date": "2013 Dec", "sentence": "Cytochrome P450 (CYP) 1A2, CYP2C9, CYP2C19, CYP2D6, and CYP3A are major factors involved in the 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mellitus (NIDDM), 13 with at least one subject affected by IDDM and the remaining 45 did not show any family connection.", "subject score": "1000"}, "PMID:21233862": {"object score": "1000", "publication date": "2010 Sep-Dec", "sentence": "RESULTS: Fifteen point zero two (15.02%) of the patients suffered from diabetes and were under dietary treatment, 62.55% suffered from non-insulin-dependant diabetes, and 22.43% suffered from insulin-dependant diabetes.", "subject score": "1000"}, "PMID:2190520": {"object score": "1000", "publication date": "1990 Mar", "sentence": "But insulin resistance also plays a major role in non-insulin-dependent diabetes mellitus, insulin-dependent diabetes mellitus, and various pathological or even physiological endocrine alterations.", "subject score": "1000"}, "PMID:22069268": {"object score": "917", "publication date": "2011 Nov", "sentence": "CONCLUSIONS: To our knowledge, this is the first study to show elevated serum CXCL1 in T1DM subjects, regardless 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by T1D and T2D development, which suggests similarity in effects of T1D and T2D on the bile acid profile, but these effects were not always consistent among all organs, possibly since feedback mechanisms controlling enterohepatic recirculation and bile acid profiles and biotransformation are different in T1D and T2D.", "subject score": "1000"}, "PMID:33740123": {"object score": "1000", "publication date": "2021 Mar 19", "sentence": "A pilot study was conducted in 65 screened diabetic patients (only 40 were enrolled in the study of those 36 were affected by type 2 diabetes and 4 were affected by type 1 diabetes) of ASST North Milano utilizing Flash Glucose Monitoring for 3 months (mean age 65 years, HbA1c 7,9%.", "subject score": "1000"}, "PMID:34163319": {"object score": "1000", "publication date": "2021", "sentence": "Results: Twenty studies (comprising of 1,175 patients matched with 1,013 controls) were included, with seven studies on GMV alterations in T1DM and 13 studies on GMV 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accelerator/beta-cell stress hypothesis regards insulin resistance as one common basis for type 1 and type 2 diabetes and weight increase as an important trigger of type 1 diabetes.", "subject score": "1000"}, "PMID:23146548": {"object score": "1000", "publication date": "2012 Nov", "sentence": "We present the case of a 30-year-old female suffering from a type five maturity onset diabetes of the young deficiency, resulting in type 1 diabetes and terminal renal insufficiency.", "subject score": "875"}, "PMID:24332762": {"object score": "1000", "publication date": "2014 Mar-Apr", "sentence": "The number of patients in need of RRT due to type 1 diabetes decreased, while RRT due to type 2 diabetes increased during the period studied.", "subject score": "1000"}, "PMID:28955221": {"object score": "1000", "publication date": "2017", "sentence": "Type 2 diabetes was induced by feeding high-fat diet (HFD) for 8 weeks and a single injection of streptozotocin (STZ, 45 mg/kg body weight, intraperitoneally) was used for the induction of type 1 diabetes.", "subject score": "1000"}, "PMID:33100790": {"object score": "1000", "publication date": "2020 Jul-Sep", "sentence": "The study proposes reproducible and cost-effective rat models for both T1DM- and T2DM-induced diabetic nephropathy characterized by stable metabolic features and typical renal lesions.", "subject score": "836"}, "PMID:33515072": {"object score": "1000", "publication date": "2021 Jan 30", "sentence": "While impaired islet autophagy has been demonstrated in human type 2 diabetes, it is unknown if islet autophagy is perturbed in the pathogenesis of type 1 diabetes.", "subject score": "916"}, "PMID:36345230": {"object score": "1000", "publication date": "2022 Nov 08", "sentence": "RESULTS In 2019, a total of 28 617 patients were admitted to the hospital due to type 1 diabetes and 38 138 patients due to type 2 diabetes.", "subject score": "1000"}, "PMID:36722309": {"object score": "1000", "publication date": 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GADA-positive, age > or =30 years and insulin-independent > or =6 months from diagnosis; type 2 diabetes, GADA-negative and insulin-independent > or =6 months from diagnosis.", "subject score": "1000"}, "PMID:18615859": {"object score": "1000", "publication date": "2008 Oct", "sentence": "The definition of type 1 diabetes is clinically exclusive, comprising patients who are considered insulin dependent at diagnosis, whilst the definition of type 2 diabetes is inclusive, only excluding those who are initially insulin dependent.", "subject score": "1000"}, "PMID:23978102": {"object score": "1000", "publication date": "2014", "sentence": "For decades, type-1 diabetes has been traditionally known as insulin-dependent, while type-2 as non-insulin dependent diabetes.", "subject score": "1000"}, "PMID:26044611": {"object score": "1000", "publication date": "2015 Aug", "sentence": "The rate of amputations decreased in type 1 diabetes, from baseline (2006): -8.15% in 2007, -25.83% in 2008, -23.43% in 2009, -27.71% in 2010, whereas it increased in type 2 diabetes in the respective years: 16.96%, 60.75%, 66.91%, and 104.64%, due to an increase in minor amputations and mainly in elderly people.", "subject score": "1000"}, "PMID:30775516": {"object score": "1000", "publication date": "2017 Sep", "sentence": "This increased risk appears to be largely independent of bone mineral density (BMD) which is most often noted to be low in type 1 diabetes and normal or increased in type 2 diabetes.", "subject score": "1000"}, "PMID:32133965": {"object score": "1000", "publication date": "2020 Mar 04", "sentence": "In short, T1DM is non-insulin dependent and T2DM is insulin dependent.", "subject score": "1000"}, "PMID:33159202": {"object score": "1000", "publication date": "2020 Sep 14", "sentence": "For type 1 DM and, dependent on the disease progression for type 2 DM, insulin substitution becomes indispensable.", "subject score": "1000"}, "PMID:34149250": {"object score": "1000", 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"publication date": "2019 Mar - Apr", "sentence": "AIMS: This study aimed to assess the association of dietary habits on diabetic risk profiles of patients with type-2 diabetes in a selected area, Bangladesh.", "subject score": "1000"}, "PMID:32338487": {"object score": "888", "publication date": "2020 May 01", "sentence": "Conclusion: With the help of SERPINF1 gene expression in white blood cells and lipid and biochemical blood parameters we suggest a mathematical formula for the augury of type 2 diabetes that should be checked on a larger population, but we hope it could be used as a diabetic marker.", "subject score": "1000"}, "PMID:33351229": {"object score": "888", "publication date": "2020 Dec 22", "sentence": "Chronically altered lipids induced by obesity further promote the development of T2D, and the accumulation of toxic lipid metabolites in serum and peripheral organs may contribute to the diabetic phenotype.", "subject score": "1000"}}, "value_type_id": null, 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"publication date": "2001 Jan", "sentence": "To achieve further insight into beta-cell pathophysiology in type 2 diabetes, we examined the orderliness of the baseline serum insulin time series (blood collection every minute for 75 minutes) in 16 type 2 diabetics (fasting plasma glucose, 170 +/- 10 mg/dL [mean +/- SE]; serum free fatty acid [FFA], 0.794 +/- 0.083 mmol/L; and known diabetes duration, 6 +/- 2 years) and 15 healthy controls (serum FFA, 0.523 +/- 0.055 mmol/L).", "subject score": "1000"}, "PMID:11320276": {"object score": "852", "publication date": "2001 May", "sentence": "CONCLUSION: These data suggest that type 2 diabetes is heritable in black South African diabetics.", "subject score": "1000"}, "PMID:11827432": {"object score": "776", "publication date": "2001", "sentence": "To determine the prevalence of MODY and early-onset type 2 diabetes with the mutation of HNF-1alpha gene in Korea, we analyzed this gene in 69 Korean early-onset type 2 diabetics and in 35 healthy persons using the single-strand conformation polymorphism (SSCP) technique and direct sequencing.", "subject score": "875"}, "PMID:11972305": {"object score": "890", "publication date": "2002 Mar", "sentence": "UNLABELLED: To investigate a possible role of an enteroinsular axis involvement in the pathogenesis of type 2 diabetes, plasma glucagon-like peptide 1 (GLP-1) 7-36 amide response to nutrient ingestion was evaluated in type 2 diabetics affected by different degrees of beta-cell dysfunction.", "subject score": "1000"}, "PMID:12823642": {"object score": "1000", "publication date": "2003 Jul", "sentence": "UNLABELLED: Microalbuminuria and hypertension with Over the past decade, there has been considerable focus on the concept of microalbuminuria, not only because it predicts renal disease in type 1 and type 2 diabetes, but also because it relates to premature mortality in the diabetic and in the general population.", "subject score": "1000"}, "PMID:12898215": {"object score": "1000", "publication date": "2003 Sep", "sentence": "We investigated the MGST3 gene as a potential susceptibility gene for T2DM by screening this locus for single nucleotide polymorphisms (SNPs) in diabetic and non-diabetic Pima Indians.", "subject score": "1000"}, "PMID:1478183": {"object score": "966", "publication date": "1992 Oct", "sentence": "Although specific insulin bindings to erythrocytes were significantly lower in patients both with LC and NIDDM, Scatchard analysis revealed a significant decrease in the number of insulin receptors in the cirrhotics, and a decrease in the empty-site affinity in the diabetics.", "subject score": "1000"}, "PMID:15677519": {"object score": "780", "publication date": "2005 Feb", "sentence": "We examined association between three PPARalpha gene polymorphisms (an A-->C variant in intron 1, the L162V variant, and the intron 7 G-->C variant) and age at diagnosis of type 2 diabetes in 912 Caucasian type 2 diabetic subjects.", "subject score": "1000"}, "PMID:16046299": {"object score": "780", "publication date": "2005 Aug", "sentence": "We then genotyped three SNPs with the strongest evidence for association to type 2 diabetes (rs1920792, I27L, and A98V) in an additional 4,400 type 2 diabetic and control subjects from North America and Poland and compared our results with those of the original sample and of Weedon et al.", "subject score": "1000"}, "PMID:16313475": {"object score": "966", "publication date": "2005 Dec", "sentence": "Recently a 3'-untranslated region +62G-->A polymorphism of the resistin gene has been associated with decreased risk for DM-2 and for hypertension in diabetics in a Chinese population.", "subject score": "1000"}, "PMID:16423628": {"object score": "872", "publication date": "2006 Feb", "sentence": "To clarify the role of PAX4 Arg121Trp mutation on the development of type 2 diabetes mellitus, we try to determine the clinical phenotype in diabetic subjects with this mutation.", "subject score": 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an overnight (14 h) fast and again after a 3-day (64 h) fast.", "subject score": "1000"}, "PMID:18443202": {"object score": "805", "publication date": "2008 Aug", "sentence": "RESEARCH DESIGN AND METHODS: Single nucleotide polymorphisms (SNPs) in 12 loci (e.g., TCF7L2, IDE/KIF11/HHEX, SLC30A8, CDKAL1, PKN2, IGF2BP2, FLJ39370, and EXT2/ALX4) associated with type 2 diabetes in European-derived populations were genotyped in 993 African American type 2 diabetic and 1,054 African American control subjects.", "subject score": "1000"}, "PMID:1860420": {"object score": "813", "publication date": "1991 Aug 02", "sentence": "The influence of type II diabetes on the success rate of arterial bypass operations in the leg was assessed in a prospective study, since 1984, of long-term results of infrainguinal arterial reconstruction in 67 type II diabetics (41 men and 26 women; mean age 71.2 [47-90] years) and compared with 133 nondiabetics (90 men and 43 women; mean age 71.5 [45-91] years).", 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Is it necessary to aim toward a precocious systematic polychemotherapy in type 2 diabetes?].", "subject score": "966"}, "PMID:1591229": {"object score": "1000", "publication date": "1992 Jun", "sentence": "Thus, in relatives of diabetics, abnormal glucose tolerance seems to induce changes in cardiovascular heart disease risk factor levels that are similar to those observed in NIDDM.", "subject score": "966"}, "PMID:16773549": {"object score": "1000", "publication date": "2006 May", "sentence": "The hypothesis for the primary endpoint was: Diabetics not included have a worse HbA1c value than those included in the DMP.", "subject score": "966"}, "PMID:17130474": {"object score": "1000", "publication date": "2006 Dec", "sentence": "Muscle mitochondrial DNA abundance was not different between type 2 diabetic and nondiabetic subjects at both insulin levels, but the majority of transcripts in muscle that are involved mitochondrial functions were expressed at lower levels in type 2 diabetes 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