{ "uniprot_canonical_ac": "A0A0B4J1F6-1", "uniprot_ac": "A0A0B4J1F6", "uniprot_id": "A0A0B4J1F6_MOUSE", "mass": { "chemical_mass": 20895.0, "monoisotopic_mass": 20895.0 }, "refseq": { "ac": "NP_001020606", "name": "uncharacterized protein LOC407814 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020606" }, "gene_names": [ { "name": "BC053393", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0B4J1F6", "id": "A0A0B4J1F6" }, { "name": "Timd6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020606", "id": "NP_001020606" } ], "protein_names": [ { "name": "cDNA sequence BC053393", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0B4J1F6" }, { "name": "hepatitis A virus cellular receptor 1-like family member", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020606", "id": "NP_001020606" }, { "name": "uncharacterized protein LOC407814 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020606", "id": "NP_001020606" } ], "function": [], "disease": [ { "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. It is the most common type of hypertension." }, "synonyms": [ { "id": "DOID:10825", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10825", "name": "idiopathic hypertension", "description": "" }, { "id": "DOID:10825", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10825", "name": "primary hypertension", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "hypertension, essential, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "hypertension, essential, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "hypertension, essential, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "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": 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"name": "hypertension, essential, susceptibility to, type 5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "Hyt5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, body Mass-related", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "essential hypertension, genetic", "description": "An instance of essential hypertension that is caused by a modification of the individual's genome." }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "blood pressure regulation QTL", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "genetic essential hypertension", "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, type 4", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "Hyt4", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, susceptibility to, type 6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "Hyt6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "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:11111", "recommended_name": { "id": "DOID:11111", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11111", "name": "hydronephrosis", "description": "" }, "synonyms": [], "evidence": [ { "id": "11111", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11111" } ] }, { "disease_id": "DOID:12556", "recommended_name": { "id": "DOID:12556", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12556", "name": "acute kidney tubular necrosis", "description": "An acute kidney failure that is characterized by necrosis of epithelial tubule cells." }, "synonyms": [ { "id": "DOID:12556", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12556", "name": "ATN - acute tubular necrosis", "description": "" }, { "id": "DOID:12556", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12556", "name": "acute renal Failure with tubular necrosis", "description": "" }, { "id": "DOID:12556", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12556", "name": "acute tubular necrosis", "description": "" }, { "id": "DOID:12556", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12556", "name": "acute tubule necrosis", "description": "" }, { "id": "DOID:12556", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12556", "name": "acute renal failure with lesion of tubular necrosis", "description": "" } ], "evidence": [ { "id": "12556", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12556" } ] }, { "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:1920", "recommended_name": { "id": "DOID:1920", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1920", "name": "hyperuricemia", "description": "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood." }, "synonyms": [ { "id": "DOID:1920", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1920", "name": "Blood urate raized", "description": "" }, { "id": "DOID:1920", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1920", "name": "uricacidemia", "description": "" } ], "evidence": [ { "id": "1920", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1920" } ] }, { "disease_id": "DOID:2378", "recommended_name": { "id": "DOID:2378", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles." }, "synonyms": [ { "id": "DOID:2378", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2378", "name": "RRMS", "description": "" }, { "id": "DOID:2378", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2378", "name": "Relapsing-remitting MS", "description": "" } ], "evidence": [ { "id": "2378", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ] }, { "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:3021", "recommended_name": { "id": "DOID:3021", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3021", "name": "acute kidney failure", "description": "" }, "synonyms": [], "evidence": [ { "id": "3021", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ] }, { "disease_id": "DOID:3310", "recommended_name": { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking." }, "synonyms": [ { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "Atopic neurodermatitis", "description": "" }, { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "Besnier's prurigo", "description": "" }, { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "allergic dermatitis", "description": "" }, { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "atopic eczema", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "dermatitis, atopic", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "ATOD", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "dermatitis, atopic", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "eczema, atopic", "description": "" } ], "evidence": [ { "id": "3310", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ] }, { "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:557", "recommended_name": { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney." }, "synonyms": [ { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "impaired renal function disease", "description": "" }, { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "nephropathy", "description": "" } ], "evidence": [ { "id": "557", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:557" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "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", "name": "vesicoureteral reflux, X-linked", "description": "" }, { "id": "MONDO:0010755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010755", "name": "VURX", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "ROBO2 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux (disease) caused by mutation in ROBO2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "vesicoureteral reflux type 2", "description": "" }, { "id": "MONDO:0012573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012573", "name": "VUR2", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "Vesicoureteral reflux", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "vesicoureteral reflux 1", "description": "" }, { "id": "MONDO:0008653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008653", "name": "VUR", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "SOX17 vesicoureteral reflux (disease)", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux (disease) caused by mutation in SOX17", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "vesicoureteral reflux type 3", "description": "" }, { "id": "MONDO:0013356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013356", "name": "VUR3", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "VUR7", "description": "" }, { "id": "MONDO:0014161", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014161", "name": "vesicoureteral reflux 7", "description": "" }, { "id": "MIM:615963", "resource": "MIM", "url": "https://www.omim.org/entry/615963", "name": "Vesicoureteral reflux 8", "description": "Vesicoureteral reflux 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"https://www.uniprot.org/uniprot/A0A0B4J1F6", "locus": { "chromosome": "11", "start_pos": 46480059, "end_pos": 46462363, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000046974", "url": "https://www.ensembl.org/id/ENSMUSG00000046974" } ] } } ], "crossref": [ { "id": "ENSMUSG00000046974", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000046974", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "407814", "url": "https://www.ncbi.nlm.nih.gov/gene/407814", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR003599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR007110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013106", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013106", "database": "InterPro", "categories": [ "Protein 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