{ "uniprot_canonical_ac": "P29754-1", "uniprot_ac": "P29754", "uniprot_id": "AGTRA_MOUSE", "mass": { "chemical_mass": 40856.0, "monoisotopic_mass": 40856.0 }, "refseq": { "ac": "NP_796296", "name": "type-1 angiotensin II receptor A", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_796296" }, "gene_names": [ { "name": "Agtr1a", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P29754", "id": "P29754" }, { "name": "1810074K20Rik; AG2S; Agt1ar; Agtr-1a; Agtr1; Angtr-1a; AT1; AT1a; AT2R1; AT2R1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_796296", "id": "NP_796296" }, { "name": "Agtr1a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_796296", "id": "NP_796296" }, { "name": "Agtr1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P29754", "id": "P29754" } ], "protein_names": [ { "name": "Type-1 angiotensin II receptor A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P29754" }, { "name": "AT1 receptor A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P29754" }, { "name": "Angiotensin II type-1 receptor A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P29754" }, { "name": "angiotensin receptor 1; type-1A angiotensin II receptor; angiotensin II type-1A receptor; angiotensin receptor 1a; AT1 receptor A; angiotensin II type-1 receptor A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_796296", "id": "NP_796296" }, { "name": "type-1 angiotensin II receptor A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_796296", "id": "NP_796296" } ], "function": [ { "annotation": "Angiotensin AT1A receptor signal switching in Agouti-related peptide neurons mediates metabolic rate adaptation during obesity.", "evidence": [ { "database": "RefSeq", "id": "NP_796296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_796296" }, { "database": "PubMed", "id": "37540598", "url": "https://glygen.org/publication/PubMed/37540598" } ] }, { "annotation": "Angiotensin II type 1a receptor deficiency alleviates muscle atrophy after denervation. 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The activated receptor in turn couples to G-alpha proteins G(q) and thus activates phospholipase C and increases the cytosolic Ca(2+) concentrations, which in turn triggers cellular responses such as stimulation of protein kinase C.", "evidence": [ { "database": "UniProtKB", "id": "A0A1Y7VJY2", "url": "https://www.uniprot.org/uniprot/A0A1Y7VJY2#function" }, { "database": "UniProtKB", "id": "RU368058", "url": "https://www.uniprot.org/uniprot/RU368058#function" }, { "database": "UniProtKB", "id": "A0A1Y7VIT7", "url": "https://www.uniprot.org/uniprot/A0A1Y7VIT7#function" }, { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprot/P29754#function" }, { "database": "UniProtKB", "id": "P30556", "url": "https://www.uniprot.org/uniprot/P30556#function" } ] } ], "disease": [ { "disease_id": "DOID:0050851", "recommended_name": { "id": "DOID:0050851", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050851", "name": "glomerulosclerosis", 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"Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060224", "name": "AFib", "description": "" } ], "evidence": [ { "id": "0060224", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ] }, { "disease_id": "DOID:0080600", "recommended_name": { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2." }, "synonyms": [ { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019 Novel Coronavirus (2019-nCoV)", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019-nCoV infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease 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that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:1073", "recommended_name": { "id": "DOID:1073", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1073", "name": "renal hypertension", "description": "" }, "synonyms": [], "evidence": [ { "id": "1073", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "evidence": [ { "id": "10763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:10825", "recommended_name": { "id": "DOID:10825", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. 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"url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "Hyt1", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "hypertension, essential, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "hypertension, essential, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "hypertension, essential, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "Hyt3", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "hypertension, essential, susceptibility to, 2", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "hypertension, essential, susceptibility to, 2", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "hypertension, essential, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "Hyt2", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", 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"description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, salt-sensitive", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 2", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 3", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 4", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 5", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 6", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, susceptibility to", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "EHT", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 1", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, salt-sensitive essential, susceptibility to", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "hypertension, essential, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "hypertension, essential, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "hypertension, essential, susceptibility to, type 7", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "Hyt7", "description": "" }, { "id": "MONDO:0012599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012599", "name": "hypertension, essential, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012599", "name": "HYT8", "description": "" }, { "id": "MONDO:0012599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012599", "name": "hypertension, essential, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "hypertension, essential, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "hypertension, essential, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "hypertension, essential, susceptibility to, 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"hypertension, essential, kidney function-related", "description": "" }, { "id": "MIM:145500", "resource": "MIM", "url": "https://www.omim.org/entry/145500", "name": "Essential hypertension", "description": "Essential hypertension" } ], "evidence": [ { "id": "10825", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ] }, { "disease_id": "DOID:10952", "recommended_name": { "id": "DOID:10952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys." }, "synonyms": [], "evidence": [ { "id": "10952", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ] }, { "disease_id": "DOID:11335", "recommended_name": { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs." }, "synonyms": [ { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "Boeck sarcoid", "description": "" }, { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "lymphogranulomatosis", "description": "" } ], "evidence": [ { "id": "11335", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ] }, { "disease_id": "DOID:12705", "recommended_name": { "id": "DOID:12705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12705", "name": "Friedreich ataxia", "description": "" }, "synonyms": [ { "id": "DOID:12705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12705", "name": "Friedreich ataxia 1", "description": "" }, { "id": "DOID:12705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12705", "name": "Friedreich's ataxia", "description": "" }, { "id": "DOID:12705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12705", "name": "Friedreich's tabes", "description": "" } ], "evidence": [ { "id": "12705", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12705" } ] }, { "disease_id": "DOID:12858", "recommended_name": { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities." }, "synonyms": [ { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "HD", "description": "" }, { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington disease", "description": "" }, { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington's chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington disease", "description": "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "HD", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington disease", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington's chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington's disease", "description": "" }, { "id": "MIM:143100", "resource": "MIM", "url": "https://www.omim.org/entry/143100", "name": "Huntington disease", "description": "Huntington disease" } ], "evidence": [ { "id": "12858", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "evidence": [ { "id": "12930", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:1312", "recommended_name": { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "" }, "synonyms": [ { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "FGS", "description": "" }, { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "FSGS", "description": "" }, { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "focal glomerular sclerosis", "description": "" }, { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "focal glomerulosclerosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis 1", "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene." }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "ACTN4 focal segmental glomerulosclerosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "FSGS1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis 1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis caused by mutation in ACTN4", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis type 1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "glomerulosclerosis, focal segmental, 1", "description": "" }, { "id": "MIM:603278", "resource": "MIM", "url": "https://www.omim.org/entry/603278", "name": "Focal segmental glomerulosclerosis 1", "description": "Focal segmental glomerulosclerosis 1" } ], "evidence": [ { "id": "1312", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "evidence": [ { "id": "14330", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:1591", "recommended_name": { "id": "DOID:1591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1591", "name": "renovascular hypertension", "description": "" }, "synonyms": [], "evidence": [ { "id": "1591", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "evidence": [ { "id": "1612", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:2018", "recommended_name": { "id": "DOID:2018", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2018", "name": "hyperinsulinism", "description": "" }, "synonyms": [ { "id": "DOID:2018", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2018", "name": "hyperinsulinemia", "description": "" } ], "evidence": [ { "id": "2018", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ] }, { "disease_id": "DOID:2841", "recommended_name": { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing." }, "synonyms": [ { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "Exercise induced asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "bronchial hyperreactivity", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with acute exacerbation", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with status asthmaticus", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "exercise-induced asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "inherited susceptibility to asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, nocturnal, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, bronchial", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, diminished response to Antileukotriene treatment 1N", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, protection against", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma-related traits, susceptibility to", "description": "" }, { "id": "MIM:600807", "resource": "MIM", "url": "https://www.omim.org/entry/600807", "name": "Asthma", "description": "Asthma" } ], "evidence": [ { "id": "2841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ] }, { "disease_id": "DOID:2986", "recommended_name": { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus." }, "synonyms": [ { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "Berger's IgA or IgG nephropathy", "description": "" }, { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "Focal Glomerulonephritis", "description": "" }, { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "IgA nephropathy", "description": "" }, { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "primary IgA nephropathy", "description": "" }, { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "segmental glomerulonephritis", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "IgA nephropathy, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "IGAN1", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "IgA nephropathy, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "Igan", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "berger disease", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "glomerulonephritis, IgA", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "nephritis, IgA type", "description": "" } ], "evidence": [ { "id": "2986", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ] }, { "disease_id": "DOID:3393", "recommended_name": { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles." }, "synonyms": [ { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "CHD", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "Coronary disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary arteriosclerosis", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary heart disease", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "Chds4", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "Chds2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "KHDC3L complete hydatidiform mole", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "complete hydatidiform mole caused by mutation in KHDC3L", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, recurrent, type 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "HYDM2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform MOLE, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, complete", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "CX3CR1 coronary artery disease", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease caused by mutation in CX3CR1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease, resistance to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "Chds1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "MEF2A coronary artery disease", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease caused by mutation in MEF2A", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, type 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "ADCAD1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease with myocardial infarction", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "LRP6 coronary artery disease", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease caused by mutation in LRP6", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant type 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant, 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "ADCAD2", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "CHDS9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "Chds3", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "CHDS8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MIM:614293", "resource": "MIM", "url": "https://www.omim.org/entry/614293", "name": "Hydatidiform mole, recurrent, 2", "description": "Hydatidiform mole, recurrent, 2" }, { "id": "MIM:608320", "resource": "MIM", "url": "https://www.omim.org/entry/608320", "name": "Coronary artery disease, autosomal dominant, 1", "description": "Coronary artery disease, autosomal dominant, 1" }, { "id": "MIM:610947", "resource": "MIM", "url": "https://www.omim.org/entry/610947", "name": "Coronary artery disease, autosomal dominant, 2", "description": "Coronary artery disease, autosomal dominant, 2" } ], "evidence": [ { "id": "3393", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ] }, { "disease_id": "DOID:3407", "recommended_name": { "id": "DOID:3407", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3407", "name": "carotid artery disease", "description": "" }, "synonyms": [ { "id": "DOID:3407", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3407", "name": "disorder of carotid artery", "description": "" } ], "evidence": [ { "id": "3407", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ] }, { "disease_id": "DOID:3891", "recommended_name": { "id": "DOID:3891", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3891", "name": "placental insufficiency", "description": "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy." }, "synonyms": [], "evidence": [ { "id": "3891", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3891" } ] }, { "disease_id": "DOID:4450", "recommended_name": { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney." }, "synonyms": [ { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "RCC", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "adenocarcinoma of kidney", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "hypernephroma", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, papillary, 1", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "RCCX1", "description": "" } ], "evidence": [ { "id": "4450", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ] }, { "disease_id": "DOID:4780", "recommended_name": { "id": "DOID:4780", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries." }, "synonyms": [ { "id": "DOID:4780", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4780", "name": "anti-GBM glomerulonephritis", "description": "" } ], "evidence": [ { "id": "4780", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ] }, { "disease_id": "DOID:576", "recommended_name": { "id": "DOID:576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine." }, "synonyms": [], "evidence": [ { "id": "576", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:576" } ] }, { "disease_id": "DOID:5844", "recommended_name": { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." }, "synonyms": [ { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "Myocardial infarct", "description": "" }, { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "heart attack", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "Mci2", "description": "" } ], "evidence": [ { "id": "5844", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ] }, { "disease_id": "DOID:6000", "recommended_name": { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body." }, "synonyms": [ { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "CHF", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Cardiac Failure Congestive", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Congestive heart disease", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Weak heart", "description": "" } ], "evidence": [ { "id": "6000", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ] }, { "disease_id": "DOID:6432", "recommended_name": { "id": "DOID:6432", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries." }, "synonyms": [], "evidence": [ { "id": "6432", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ] }, { "disease_id": "DOID:6713", "recommended_name": { "id": "DOID:6713", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain." }, "synonyms": [ { "id": "DOID:6713", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6713", "name": "CVA", "description": "" }, { "id": "DOID:6713", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6713", "name": "cerebrovascular disorder", "description": "" }, { "id": "DOID:6713", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6713", "name": "stroke", "description": "" } ], "evidence": [ { "id": "6713", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ] }, { "disease_id": "DOID:784", "recommended_name": { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function." }, "synonyms": [ { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "CKD", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "CRF", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "chronic kidney failure", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "chronic renal disease", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "chronic renal failure syndrome", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "renal failure - chronic", "description": "" } ], "evidence": [ { "id": "784", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:784" } ] }, { "disease_id": "DOID:8805", "recommended_name": { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "intermediate coronary syndrome", "description": "" }, "synonyms": [ { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Angina at rest", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Anginal chest pain at rest", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Impending infarction", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Preinfarction angina", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Unstable angina", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Worsening angina", "description": "" } ], "evidence": [ { "id": "8805", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ] }, { "disease_id": "DOID:9620", "recommended_name": { "id": "DOID:9620", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter." }, "synonyms": [ { "id": "DOID:9620", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9620", "name": "vesico-ureteral reflux", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "VUR4", "description": "" }, { "id": "MONDO:0013682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013682", "name": "vesicoureteral reflux 4", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "VUR6", "description": "" }, { "id": "MONDO:0013684", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013684", "name": "vesicoureteral reflux 6", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "VUR5", "description": "" }, { "id": "MONDO:0013683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013683", "name": "vesicoureteral reflux 5", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "TNXB vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux (disease) caused by mutation in TNXB", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "vesicoureteral reflux type 8", "description": "" }, { "id": "MONDO:0014422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014422", "name": "VUR8", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "luteal-phase-dependent periodic fever", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "menstrual cycle-dependent febrile episode", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle dependent", "description": "" }, { "id": "MONDO:0044660", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044660", "name": "periodic fever, menstrual cycle-dependent", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", 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OX=10090 GN=Agtr1a PE=1 SV=1 CANONICAL=P29754-1" }, "locus": { "chromosome": "13", "start_pos": 30565089, "end_pos": 30564937, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000221743.2", "url": "https://www.ensembl.org/id/ENSMUST00000221743.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000152634.2", "url": "https://www.ensembl.org/id/ENSMUSP00000152634.2" } ] } }, { "isoform_ac": "A0A1Y7VL16-1", "url": "", "sequence": { "sequence": "MALNSSTEDGIKRIQDDCPR", "length": 20, "header": "tr|A0A1Y7VL16-1|AGTRA_MOUSE Computationally mapped isoform of Type-1 angiotensin II receptor A OS=Mus musculus OX=10090 GN=Agtr1a PE=1 SV=1 CANONICAL=P29754-1" }, "locus": { "chromosome": "13", "start_pos": 30564996, "end_pos": 30564937, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000223201.2", "url": "https://www.ensembl.org/id/ENSMUST00000223201.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000152265.2", "url": "https://www.ensembl.org/id/ENSMUSP00000152265.2" } ] } }, { "isoform_ac": "A0A1Y7VMR7-1", "url": "", "sequence": { "sequence": "MALNSSTEDGIKRI", "length": 14, "header": "tr|A0A1Y7VMR7-1|AGTRA_MOUSE Computationally mapped isoform of Type-1 angiotensin II receptor A OS=Mus musculus OX=10090 GN=Agtr1a PE=1 SV=1 CANONICAL=P29754-1" }, "locus": { "chromosome": "13", "start_pos": 30564978, "end_pos": 30564937, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000222503.2", "url": "https://www.ensembl.org/id/ENSMUST00000222503.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000152873.2", "url": "https://www.ensembl.org/id/ENSMUSP00000152873.2" } ] } }, { "isoform_ac": "P29754-1", "url": "", "sequence": { "sequence": "MALNSSTEDGIKRIQDDCPRAGRHSYIFVMIPTLYSIIFVVGIFGNSLVVIVIYFYMKLKTVASVFLLNLALADLCFLLTLPLWAVYTAMEYRWPFGNHLCKIASASVSFNLYASVFLLTCLSIDRYLAIVHPMKSRLRRTMLVAKVTCIIIWLMAGLASLPAVIHRNVYFIENTNITVCAFHYESRNSTLPIGLGLTKNILGFLFPFLIILTSYTLIWKALKKAYEIQKNKPRNDDIFRIIMAIVLFFFFSWVPHQIFTFLDVLIQLGVIHDCKIADIVDTAMPITICIAYFNNCLNPLFYGFLGKKFKKYFLQLLKYIPPKAKSHSSLSTKMSTLSYRPSDNMSSAAKKPASCSEVE", "length": 359, "header": "sp|P29754-1|AGTRA_MOUSE Isoform 1 of Type-1 angiotensin II receptor A OS=Mus musculus OX=10090 GN=Agtr1a PE=1 SV=1 CANONICAL=P29754-1" }, "locus": { "chromosome": "13", "start_pos": 30566013, "end_pos": 30564937, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000066412", "url": "https://www.ensembl.org/id/ENSMUST00000066412" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000070958", "url": "https://www.ensembl.org/id/ENSMUSP00000070958" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 176, "start_aa": "Asn", "end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "evidence": [ { "id": "P29754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29754#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 188, "start_aa": "Asn", "end_pos": 188, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn188", "evidence": [ { "id": "P29754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29754#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 4, "start_aa": "Asn", "end_pos": 4, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn4", "evidence": [ { "id": "P29754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29754#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 319, "end_pos": 319, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P29754", "url": "http://phospho.elm.eu.org/byAccession/P29754.html" }, { "database": "iPTMnet", "id": "P29754", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P29754" }, { "database": "PubMed", "id": "16902180", "url": "https://glygen.org/publication/PubMed/16902180" } ], "site_lbl": "Tyr319" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Analysis of the evolution of angiotensin II type 1 receptor gene in mammals (mouse, rat, bovine and human).", "journal": "Biochem. Biophys. Res. Commun.", "date": "1992", "authors": "Furuta H., Iwai N., Guo D.F., Inagami T., Yoshida H., Ichikawa I., Kakuchi J., van der Meer-De Jong R.", "evidence": [ { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprot/P29754" } ], "reference": [ { "type": "PubMed", "id": "1497638", "url": "https://glygen.org/publication/PubMed/1497638" } ] }, { "title": "Cloning, characterization, and expression of two angiotensin receptor (AT-1) isoforms from the mouse genome.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1992", "authors": "Kobilka B.K., Dzau V.J., Krieger J.E., Sasamura H., Hein L., Pratt R.E.", "evidence": [ { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprot/P29754" } ], "reference": [ { "type": "PubMed", "id": "1599461", "url": "https://glygen.org/publication/PubMed/1599461" } ] }, { "title": "An angiotensin II type 1 receptor mutant lacking epidermal growth factor receptor transactivation does not induce angiotensin II-mediated cardiac hypertrophy.", "journal": "Circulation research", "date": "2006", "authors": "Zhai P, Galeotti J, Liu J, Holle E, Yu X, Wagner T, Sadoshima J", "evidence": [ { "database": "iPTMnet", "id": "P29754", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P29754" } ], "reference": [ { "type": "PubMed", "id": "16902180", "url": "https://glygen.org/publication/PubMed/16902180" } ] }, { "title": "Genetic Deletion of AT1a Receptor or Na+/H+ Exchanger 3 Selectively in the Proximal Tubules of the Kidney Attenuates Two-Kidney, One-Clip Goldblatt Hypertension in Mice.", "journal": "International journal of molecular sciences", "date": "2022-12-13", "authors": "Li Xiao Chun, Hassan Rumana, Leite Ana Paula O, Katsurada Akemi, Dugas Courtney, Sato Ryosuke, Zhuo Jia Long", "evidence": [ { "database": "RefSeq", "id": "NP_796296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_796296" } ], "reference": [ { "type": "PubMed", "id": "36555438", "url": "https://glygen.org/publication/PubMed/36555438" } ] }, { "title": "Angiotensin II type 1a receptor deficiency alleviates muscle atrophy after denervation.", "journal": "Scientific reports", "date": "2023-01-10", "authors": "Takayama Suguru, Inoue Kazuho, Ogura Yuji, Hoshino Seiko, Sugaya Takeshi, Ohata Keiichi, Kotake Hitoshi, Ichikawa Daisuke, Watanabe Minoru, Kimura Kenjiro, Shibagaki Yugo, Kamijo-Ikemori Atsuko", "evidence": [ { "database": "RefSeq", "id": "NP_796296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_796296" } ], 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