{ "uniprot_canonical_ac": "Q08048-1", "uniprot_ac": "Q08048", "uniprot_id": "HGF_MOUSE", "mass": { "chemical_mass": 82945.0, "monoisotopic_mass": 82945.0 }, "refseq": { "ac": "NP_001276387", "name": "hepatocyte growth factor isoform 1 preproprotein", "summary": "This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the hepatocyte growth factor alpha and beta chains, which heterodimerize to form the mature active protein. Although this protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Homozygous knockout mice for this gene exhibit embryonic lethality due to impaired development of the placenta and liver. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276387" }, "gene_names": [ { "name": "Hgf", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q08048", "id": "Q08048" }, { "name": "C230052L06Rik; HGF/SF; NK1; NK2; SF; SF/HGF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276387", "id": "NP_001276387" }, { "name": "Hgf", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276387", "id": "NP_001276387" } ], "protein_names": [ { "name": "Hepatocyte growth factor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q08048" }, { "name": "Hepatopoietin-A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q08048" }, { "name": "SF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q08048" }, { "name": "Scatter factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q08048" }, { "name": "hepatocyte growth factor isoform 1 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276387", "id": "NP_001276387" }, { "name": "scatter factor; hepatopoietin-A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276387", "id": "NP_001276387" } ], "function": [ { "annotation": "HGF Secreted by Menstrual Blood-Derived Endometrial Stem Cells Ameliorates Non-Alcoholic Fatty Liver Disease Through Downregulation of Hepatic Rnf186.", "evidence": [ { "database": "RefSeq", "id": "NP_001276387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276387" }, { "database": "PubMed", "id": "36573461", "url": "https://glygen.org/publication/PubMed/36573461" } ] }, { "annotation": "Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types (PubMed:20624990). Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerization (By similarity). Activates MAPK signaling following TMPRSS13 cleavage and activation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q08048", "url": "https://www.uniprot.org/uniprot/Q08048#function" }, { "database": "UniProtKB", "id": "P14210", "url": "https://www.uniprot.org/uniprot/P14210#function" }, { "database": "PubMed", "id": "20624990", "url": "https://glygen.org/publication/PubMed/20624990" } ] }, { "annotation": "This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the hepatocyte growth factor alpha and beta chains, which heterodimerize to form the mature active protein. Although this protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Homozygous knockout mice for this gene exhibit embryonic lethality due to impaired development of the placenta and liver. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001276387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276387" } ] }, { "annotation": "Upregulation of Reg IV and Hgf mRNAs by Intermittent Hypoxia via Downregulation of microRNA-499 in Cardiomyocytes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001276387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276387" }, { "database": "PubMed", "id": "36293268", "url": "https://glygen.org/publication/PubMed/36293268" } ] } ], "disease": [ { "disease_id": "DOID:0050625", "recommended_name": { "id": "DOID:0050625", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050625", "name": "biliary tract benign neoplasm", "description": "A hepatobiliary benign neoplasm located_in the biliary tract." }, "synonyms": [ { "id": "DOID:0050625", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050625", "name": "extrahepatic bile duct neoplasm", "description": "" }, { "id": "DOID:0050625", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050625", "name": "neoplasm of extrahepatic bile ducts", "description": "" }, { "id": "DOID:0050625", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050625", "name": "tumor of the extrahepatic bile duct", "description": "" } ], "evidence": [ { "id": "0050625", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050625" } ] }, { "disease_id": "DOID:0050852", "recommended_name": { "id": "DOID:0050852", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050852", "name": "limb ischemia", "description": "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply." }, "synonyms": [], "evidence": [ { "id": "0050852", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050852" } ] }, { "disease_id": "DOID:0050865", "recommended_name": { "id": "DOID:0050865", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue." }, "synonyms": [], "evidence": [ { "id": "0050865", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ] }, { "disease_id": "DOID:0060224", "recommended_name": { "id": "DOID:0060224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain." }, "synonyms": [ { "id": "DOID:0060224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060224", "name": "A-fib", "description": "" }, { "id": "DOID:0060224", "resource": "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 Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan coronavirus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan seafood market pneumonia virus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID19", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "SARS-CoV-2 infection", "description": "" } ], "evidence": [ { "id": "0080600", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ] }, { "disease_id": "DOID:0080745", "recommended_name": { "id": "DOID:0080745", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080745", "name": "polymyositis", "description": "A myositis that is characterized by muscle weakness affecting both sides of your body." }, "synonyms": [], "evidence": [ { "id": "0080745", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080745" } ] }, { "disease_id": "DOID:0081267", "recommended_name": { "id": "DOID:0081267", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32." }, "synonyms": [ { "id": "DOID:0081267", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081267", "name": "GvHD", "description": "" }, { "id": "DOID:0081267", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081267", "name": "graft versus host disease", "description": "" }, { "id": "MONDO:0100048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100048", "name": "graft-versus-host disease, susceptibility to", "description": "An inherited susceptibility or predisposition to developing graft vs. host disease." }, { "id": "MONDO:0100048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100048", "name": "GVHDS", "description": "" } ], "evidence": [ { "id": "0081267", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ] }, { "disease_id": "DOID:0110497", "recommended_name": { "id": "DOID:0110497", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110497", "name": "autosomal recessive nonsyndromic deafness 39", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21." }, "synonyms": [ { "id": "DOID:0110497", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110497", "name": "DFNB39", "description": "" }, { "id": "DOID:0110497", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110497", "name": "autosomal recessive deafness 39", "description": "" }, { "id": "MONDO:0012003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012003", "name": "autosomal recessive nonsyndromic hearing loss 39", "description": "An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness." }, { "id": "MONDO:0012003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012003", "name": "DFNB39", "description": "" }, { "id": "MONDO:0012003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012003", "name": "HGF autosomal recessive nonsyndromic deafness", "description": "" }, { "id": "MONDO:0012003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012003", "name": "autosomal recessive deafness 39", "description": "" }, { "id": "MONDO:0012003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012003", "name": "autosomal recessive nonsyndromic deafness 39", "description": "" }, { "id": "MONDO:0012003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012003", "name": "autosomal recessive nonsyndromic deafness caused by mutation in HGF", "description": "" }, { "id": "MONDO:0012003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012003", "name": "autosomal recessive nonsyndromic deafness type 39", "description": "" }, { "id": "MONDO:0012003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012003", "name": "deafness, autosomal recessive 39", "description": "" }, { "id": "MONDO:0012003", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012003", "name": "deafness, autosomal recessive type 39", "description": "" }, { "id": "MIM:608265", "resource": "MIM", "url": "https://www.omim.org/entry/608265", "name": "Deafness, autosomal recessive, 39", "description": "Deafness, autosomal recessive, 39" } ], "evidence": [ { "id": "0110497", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110497" } ] }, { "disease_id": "DOID:10126", "recommended_name": { "id": "DOID:10126", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10126", "name": "keratoconus", "description": "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape." }, "synonyms": [ { "id": "DOID:10126", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10126", "name": "conical cornea", "description": "" }, { "id": "MONDO:0012158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012158", "name": "keratoconus 2", "description": "" }, { "id": "MONDO:0012158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012158", "name": "KTCN2", "description": "" }, { "id": "MONDO:0012158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012158", "name": "keratoconus 2", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "keratoconus 1", "description": "Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene." }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "VSX1 keratoconus (disease)", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "keratoconus (disease) caused by mutation in VSX1", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "keratoconus 1", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "keratoconus type 1", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "KTCN1", "description": "" }, { "id": "MONDO:0012236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012236", "name": "keratoconus 4", "description": "" }, { "id": "MONDO:0012236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012236", "name": "KTCN4", "description": "" }, { "id": "MONDO:0012236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012236", "name": "keratoconus 4", "description": "" }, { "id": "MONDO:0012069", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012069", "name": "keratoconus 3", "description": "" }, { "id": "MONDO:0012069", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012069", "name": "KTCN3", "description": "" }, { "id": "MONDO:0012069", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012069", "name": "keratoconus 3", "description": "" }, { "id": "MONDO:0013831", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013831", "name": "keratoconus 6", "description": "" }, { "id": "MONDO:0013831", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013831", "name": "KTCN6", "description": "" }, { "id": "MONDO:0013831", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013831", "name": "keratoconus 6", "description": "" }, { "id": "MONDO:0013830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013830", "name": "keratoconus 5", "description": "" }, { "id": "MONDO:0013830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013830", "name": "KTCN5", "description": "" }, { "id": "MONDO:0013830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013830", "name": "keratoconus 5", "description": "" }, { "id": "MONDO:0013833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013833", "name": "keratoconus 7", "description": "" }, { "id": "MONDO:0013833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013833", "name": "KTCN7", "description": "" }, { "id": "MONDO:0013833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013833", "name": "keratoconus 7", "description": "" }, { "id": "MONDO:0013832", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013832", "name": "keratoconus 8", "description": "" }, { "id": "MONDO:0013832", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013832", "name": "KTCN8", "description": "" }, { "id": "MONDO:0013832", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013832", "name": "keratoconus 8", "description": "" }, { "id": "MIM:148300", "resource": "MIM", "url": "https://www.omim.org/entry/148300", "name": "Keratoconus 1", "description": "Keratoconus 1" } ], "evidence": [ { "id": "10126", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10126" } ] }, { "disease_id": "DOID:10223", "recommended_name": { "id": "DOID:10223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction." }, "synonyms": [ { "id": "DOID:10223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10223", "name": "Polymyositis with skin involvement", "description": "" }, { "id": "DOID:10223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10223", "name": "dermatopolymyositis", "description": "" } ], "evidence": [ { "id": "10223", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ] }, { "disease_id": "DOID:10584", "recommended_name": { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." }, "synonyms": [ { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "Rod-cone dystrophy", "description": "" }, { "id": "MIM:268000", "resource": "MIM", "url": "https://www.omim.org/entry/268000", "name": "Retinitis pigmentosa", "description": "Retinitis pigmentosa" } ], "evidence": [ { "id": "10584", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ] }, { "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:11446", "recommended_name": { "id": "DOID:11446", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11446", "name": "sciatic neuropathy", "description": "" }, "synonyms": [], "evidence": [ { "id": "11446", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ] }, { "disease_id": "DOID:11830", "recommended_name": { "id": "DOID:11830", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11830", "name": "myopia", "description": "A refractive error characterized by the inability to see farther objects clearly." }, "synonyms": [ { "id": "DOID:11830", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11830", "name": "near vision", "description": "" }, { "id": "DOID:11830", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11830", "name": "near-sightedness", "description": "" }, { "id": "DOID:11830", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11830", "name": "short-sightedness", "description": "" }, { "id": "MONDO:0012229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012229", "name": "myopia 9", "description": "" }, { "id": "MONDO:0012229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012229", "name": "MYP9", "description": "" }, { "id": "MONDO:0012229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012229", "name": "myopia 9", "description": "" }, { "id": "MONDO:0012230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012230", "name": "myopia 10", "description": "" }, { "id": "MONDO:0012230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012230", "name": "MYP10", "description": "" }, { "id": "MONDO:0012230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012230", "name": "myopia 10", "description": "" }, { "id": "MONDO:0012227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012227", "name": "myopia 7", "description": "" }, { "id": "MONDO:0012227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012227", "name": "MYP7", "description": "" }, { "id": "MONDO:0012227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012227", "name": "myopia 7", "description": "" }, { "id": "MONDO:0013506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013506", "name": "schizophrenia 16", "description": "A schizophrenia that has material basis in a mutation on chromosome 7q36.3." }, { "id": "MONDO:0013506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013506", "name": "SCZD16", "description": "" }, { "id": "MONDO:0013506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013506", "name": "schizophrenia 16", "description": "" }, { "id": "MONDO:0013506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013506", "name": "schizophrenia type 16", "description": "" }, { "id": "MONDO:0013506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013506", "name": "chromosome 7Q36.3 Duplication syndrome, 362-Kb", "description": "" }, { "id": "MONDO:0013506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013506", "name": "schizophrenia susceptibility locus, chromosome 7Q36.3-related", "description": "" }, { "id": "MONDO:0010685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010685", "name": "myopia 1, X-linked", "description": "" }, { "id": "MONDO:0010685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010685", "name": "MYP1", "description": "" }, { "id": "MONDO:0010685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010685", "name": "myopia 1, X-linked", "description": "" }, { "id": "MONDO:0010685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010685", "name": "myopia-1, X-linked recessive", "description": "" }, { "id": "MONDO:0012995", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012995", "name": "myopia 15, autosomal dominant", "description": "" }, { "id": "MONDO:0012995", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012995", "name": "MYP15", "description": "" }, { "id": "MONDO:0012995", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012995", "name": "myopia 15, autosomal dominant", "description": "" }, { "id": "MONDO:0013604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013604", "name": "myopia 21, autosomal dominant", "description": "Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene." }, { "id": "MONDO:0013604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013604", "name": "ZNF644 myopia (disease)", "description": "" }, { "id": "MONDO:0013604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013604", "name": "myopia (disease) caused by mutation in ZNF644", "description": "" }, { "id": "MONDO:0013604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013604", "name": "myopia 21, autosomal dominant", "description": "" }, { "id": "MONDO:0013604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013604", "name": "MYP21", "description": "" }, { "id": "MONDO:0014177", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014177", "name": "myopia 22, autosomal dominant", "description": "" }, { "id": "MONDO:0014177", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014177", "name": "myopia 22, autosomal dominant", "description": "" }, { "id": "MONDO:0014177", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014177", "name": "MYP22", "description": "" }, { "id": "MONDO:0009713", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009713", "name": "myopia 18, autosomal recessive", "description": "" }, { "id": "MONDO:0009713", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009713", "name": "MYP18", "description": "" }, { "id": "MONDO:0009713", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009713", "name": "myopia 18, autosomal recessive", "description": "" }, { "id": "MONDO:0014411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014411", "name": "myopia 24, autosomal dominant", "description": "" }, { "id": "MONDO:0014411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014411", "name": "myopia 24, autosomal dominant", "description": "" }, { "id": "MONDO:0014411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014411", "name": "MYP24", "description": "" }, { "id": "MONDO:0012228", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012228", "name": "myopia 8", "description": "" }, { "id": "MONDO:0012228", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012228", "name": "MYP8", "description": "" }, { "id": "MONDO:0012228", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012228", "name": "myopia 8", "description": "" }, { "id": "MONDO:0014183", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014183", "name": "myopia 23, autosomal recessive", "description": "" }, { "id": "MONDO:0014183", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014183", "name": "myopia 23, autosomal recessive", "description": "" }, { "id": "MONDO:0014183", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014183", "name": "MYP23", "description": "" }, { "id": "MONDO:0011300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011300", "name": "myopia 3, autosomal dominant", "description": "" }, { "id": "MONDO:0011300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011300", "name": "MYP3", "description": "" }, { "id": "MONDO:0011300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011300", "name": "myopia 3, autosomal dominant", "description": "" }, { "id": "MONDO:0011300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011300", "name": "myopia-3", "description": "" }, { "id": "MONDO:0012154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012154", "name": "myopia 6", "description": "Any myopia in which the cause of the disease is a mutation in the SCO2 gene." }, { "id": "MONDO:0012154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012154", "name": "SCO2 myopia (disease)", "description": "" }, { "id": "MONDO:0012154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012154", "name": "myopia (disease) caused by mutation in SCO2", "description": "" }, { "id": "MONDO:0012154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012154", "name": "myopia 6", "description": "" }, { "id": "MONDO:0012154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012154", "name": "myopia type 6", "description": "" }, { "id": "MONDO:0012154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012154", "name": "MYP6", "description": "" }, { "id": "MONDO:0012154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012154", "name": "myopia, susceptibility to", "description": "" }, { "id": "MONDO:0012389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012389", "name": "myopia 12, autosomal dominant", "description": "" }, { "id": "MONDO:0012389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012389", "name": "MYP12", "description": "" }, { "id": "MONDO:0012389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012389", "name": "myopia 12", "description": "" }, { "id": "MONDO:0012389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012389", "name": "myopia 12, autosomal dominant", "description": "" }, { "id": "MONDO:0012388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012388", "name": "myopia 11, autosomal dominant", "description": "" }, { "id": "MONDO:0012388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012388", "name": "MYP11", "description": "" }, { "id": "MONDO:0012388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012388", "name": "myopia 11", "description": "" }, { "id": "MONDO:0012388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012388", "name": "myopia 11, autosomal dominant", "description": "" }, { "id": "MONDO:0010377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010377", "name": "myopia 13, X-linked", "description": "" }, { "id": "MONDO:0010377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010377", "name": "MYP13", "description": "" }, { "id": "MONDO:0010377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010377", "name": "myopia 13", "description": "" }, { "id": "MONDO:0010377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010377", "name": "myopia 13, X-linked", "description": "" }, { "id": "MONDO:0012021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012021", "name": "myopia 17, autosomal dominant", "description": "" }, { "id": "MONDO:0012021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012021", "name": "MYP17", "description": "" }, { "id": "MONDO:0012021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012021", "name": "myopia 17, autosomal dominant", "description": "" }, { "id": "MONDO:0012021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012021", "name": "myopia 4", "description": "" }, { "id": "MONDO:0012021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012021", "name": "myopia 4, formerly", "description": "" }, { "id": "MONDO:0012469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012469", "name": "myopia 14", "description": "" }, { "id": "MONDO:0012469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012469", "name": "MYP14", "description": "" }, { "id": "MONDO:0012469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012469", "name": "myopia 14", "description": "" }, { "id": "MONDO:0012045", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012045", "name": "myopia 5, autosomal dominant", "description": "" }, { "id": "MONDO:0012045", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012045", "name": "MYP5", "description": "" }, { "id": "MONDO:0012045", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012045", "name": "myopia 5, autosomal dominant", "description": "" }, { "id": "MONDO:0008053", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008053", "name": "myopia 2, autosomal dominant", "description": "" }, { "id": "MONDO:0008053", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008053", "name": "MYP2", "description": "" }, { "id": "MONDO:0008053", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008053", "name": "myopia 2, autosomal dominant", "description": "" }, { "id": "MONDO:0013603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013603", "name": "myopia 20, autosomal dominant", "description": "" }, { "id": "MONDO:0013603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013603", "name": "MYP20", "description": "" }, { "id": "MONDO:0013603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013603", "name": "myopia 20, autosomal dominant", "description": "" }, { "id": "MONDO:0013508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013508", "name": "myopia 19, autosomal dominant", "description": "" }, { "id": "MONDO:0013508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013508", "name": "MYP19", "description": "" }, { "id": "MONDO:0013508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013508", "name": "myopia 19, autosomal dominant", "description": "" }, { "id": "MONDO:0012932", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012932", "name": "myopia 16, autosomal dominant", "description": "" }, { "id": "MONDO:0012932", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012932", "name": "MYP16", "description": "" }, { "id": "MONDO:0012932", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012932", "name": "myopia 16", "description": "" }, { "id": "MONDO:0012932", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012932", "name": "myopia 16, autosomal dominant", "description": "" }, { "id": "MIM:614167", "resource": "MIM", "url": "https://www.omim.org/entry/614167", "name": "Myopia 21, autosomal dominant", "description": "Myopia 21, autosomal dominant" }, { "id": "MIM:615420", "resource": "MIM", "url": "https://www.omim.org/entry/615420", "name": "Myopia 22, autosomal dominant", "description": "Myopia 22, autosomal dominant" }, { "id": "MIM:615946", "resource": "MIM", "url": "https://www.omim.org/entry/615946", "name": "Myopia 24, autosomal dominant", "description": "Myopia 24, autosomal dominant" }, { "id": "MIM:615431", "resource": "MIM", "url": "https://www.omim.org/entry/615431", "name": "Myopia 23, autosomal recessive", "description": "Myopia 23, autosomal recessive" }, { "id": "MIM:608908", "resource": "MIM", "url": "https://www.omim.org/entry/608908", "name": "Myopia 6", "description": "Myopia 6" } ], "evidence": [ { "id": "11830", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11830" } ] }, { "disease_id": "DOID:12306", "recommended_name": { "id": "DOID:12306", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes." }, "synonyms": [ { "id": "MONDO:0700077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700077", "name": "vitiligo-associated multiple autoimmune disease susceptibility 6", "description": "" }, { "id": "MONDO:0700077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700077", "name": "VAMAS6", "description": "" }, { "id": "MIM:193200", "resource": "MIM", "url": "https://www.omim.org/entry/193200", "name": "Vitiligo", "description": "Vitiligo" } ], "evidence": [ { "id": "12306", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ] }, { "disease_id": "DOID:13025", "recommended_name": { "id": "DOID:13025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13025", "name": "retinopathy of prematurity", "description": "" }, "synonyms": [ { "id": "DOID:13025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13025", "name": "Retrolental fibroplasia", "description": "" }, { "id": "DOID:13025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13025", "name": "premature retinopathy", "description": "" } ], "evidence": [ { "id": "13025", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ] }, { "disease_id": "DOID:13550", "recommended_name": { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis." }, "synonyms": [ { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "ACG - Angle-closure glaucoma", "description": "" }, { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "Angle Closure Glaucoma", "description": "" }, { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "Closed angle glaucoma", "description": "" }, { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "Narrow cleft glaucoma", "description": "" }, { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "primary open-angle glaucoma with narrow angles", "description": "" } ], "evidence": [ { "id": "13550", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ] }, { "disease_id": "DOID:14256", "recommended_name": { "id": "DOID:14256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14256", "name": "adult-onset Still's disease", "description": "A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain." }, "synonyms": [ { "id": "DOID:14256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14256", "name": "adult onset Still's disease", "description": "" }, { "id": "DOID:14256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14256", "name": "adult-onset Still disease", "description": "" } ], "evidence": [ { "id": "14256", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14256" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "evidence": [ { "id": "1793", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:2349", "recommended_name": { "id": "DOID:2349", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries." }, "synonyms": [ { "id": "DOID:2349", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2349", "name": "Arteriosclerotic vascular disease", "description": "" } ], "evidence": [ { "id": "2349", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ] }, { "disease_id": "DOID:2741", "recommended_name": { "id": "DOID:2741", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2741", "name": "bilirubin metabolic disorder", "description": "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism." }, "synonyms": [ { "id": "DOID:2741", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2741", "name": "hereditary hyperbilirubinemia", "description": "" }, { "id": "DOID:2741", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2741", "name": "hyperbilirubinemia", "description": "" } ], "evidence": [ { "id": "2741", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2741" } ] }, { "disease_id": "DOID:3070", "recommended_name": { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine." }, "synonyms": [ { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "malignant glioma", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "Neuroglial tumor", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "glial cell tumor", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "glioma, malignant", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "malignant Neuroglial tumor", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma susceptibility 1", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "GLM1", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioblastoma, somatic", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma susceptibility 1", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma susceptibility 1, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma, susceptibility to, somatic", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "astrocytoma", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "ependymoma", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioblastoma multiforme", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma of brain, familial", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "oligodendroglioma", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "subependymoma", "description": "" }, { "id": "MIM:137800", "resource": "MIM", "url": "https://www.omim.org/entry/137800", "name": "Glioma 1", "description": "Glioma 1" } ], "evidence": [ { "id": "3070", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ] }, { "disease_id": "DOID:3082", "recommended_name": { "id": "DOID:3082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough." }, "synonyms": [ { "id": "DOID:3082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3082", "name": "ILD", "description": "" } ], "evidence": [ { "id": "3082", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ] }, { "disease_id": "DOID:3179", "recommended_name": { "id": "DOID:3179", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3179", "name": "inverted papilloma", "description": "" }, "synonyms": [ { "id": "DOID:3179", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3179", "name": "Inverted papilloma, squamous cell", "description": "" } ], "evidence": [ { "id": "3179", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3179" } ] }, { "disease_id": "DOID:331", "recommended_name": { "id": "DOID:331", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:331", "name": "central nervous system disease", "description": "A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system." }, "synonyms": [], "evidence": [ { "id": "331", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:331" } ] }, { "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:3454", "recommended_name": { "id": "DOID:3454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain." }, "synonyms": [], "evidence": [ { "id": "3454", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ] }, { "disease_id": "DOID:3565", "recommended_name": { "id": "DOID:3565", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3565", "name": "meningioma", "description": "A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges." }, "synonyms": [ { "id": "DOID:3565", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3565", "name": "meningeal neoplasm", "description": "" }, { "id": "DOID:3565", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3565", "name": "meningothelial cell tumor", "description": "" }, { "id": "DOID:3565", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3565", "name": "neoplasm of the meninges", "description": "" }, { "id": "DOID:3565", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3565", "name": "primary Meningeal tumor", "description": "" } ], "evidence": [ { "id": "3565", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3565" } ] }, { "disease_id": "DOID:3770", "recommended_name": { "id": "DOID:3770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation." }, "synonyms": [ { "id": "DOID:3770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3770", "name": "Fibrosis of lung", "description": "" } ], "evidence": [ { "id": "3770", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ] }, { "disease_id": "DOID:418", "recommended_name": { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." }, "synonyms": [ { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "Scleroderma", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "Scleroderma syndrome", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "progressive systemic sclerosis", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "systemic sclerosis", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "scleroderma, familial progressive", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "scleroderma, familial progressive", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "Crest syndrome", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "systemic sclerosis, susceptibility to", "description": "" } ], "evidence": [ { "id": "418", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:418" } ] }, { "disease_id": "DOID:4947", "recommended_name": { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells." }, "synonyms": [ { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "adult primary Cholangiocarcinoma", "description": "" }, { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "adult primary cholangiocellular carcinoma", "description": "" }, { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "cholangiosarcoma", "description": "" } ], "evidence": [ { "id": "4947", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ] }, { "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:633", "recommended_name": { "id": "DOID:633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:633", "name": "myositis", "description": "A myopathy characterized by muscle inflammation." }, "synonyms": [ { "id": "DOID:633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:633", "name": "Inflammatory disorder of muscle", "description": "" }, { "id": "MONDO:0600024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0600024", "name": "familial idiopathic inflammatory myopathy", "description": "An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause." }, { "id": "MONDO:0600024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0600024", "name": "familial idiopathic myositis", "description": "" } ], "evidence": [ { "id": "633", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:633" } ] }, { "disease_id": "DOID:7148", "recommended_name": { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint." }, "synonyms": [ { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "Arthritis or polyarthritis, rheumatic", "description": "" }, { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "atrophic Arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis", "description": "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "atrophic arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "RA", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "arthritis or polyarthritis, rheumatic", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "arthritis, rheumatoid", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "autoimmune arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis, progression of", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis, susceptibility to", "description": "" }, { "id": "MIM:180300", "resource": "MIM", "url": "https://www.omim.org/entry/180300", "name": "Rheumatoid arthritis", "description": "Rheumatoid arthritis" } ], "evidence": [ { "id": "7148", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ] }, { "disease_id": "DOID:8466", "recommended_name": { "id": "DOID:8466", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina." }, "synonyms": [ { "id": "DOID:8466", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8466", "name": "degeneration of retina", "description": "" } ], "evidence": [ { "id": "8466", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ] }, { "disease_id": "DOID:8472", "recommended_name": { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "localized scleroderma", "description": "" }, "synonyms": [ { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "Morphea", "description": "" }, { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "Scleroderma, circumscribed or localised", "description": "" }, { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "Scleroderma, circumscribed or localized", "description": "" }, { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "circumscribed scleroderma", "description": "" }, { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "localised morphea", "description": "" }, { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "localised morphoea", "description": "" }, { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "localised scleroderma", "description": "" }, { "id": "DOID:8472", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8472", "name": "localized morphea", "description": "" } ], "evidence": [ { "id": "8472", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8472" } ] }, { "disease_id": "DOID:869", "recommended_name": { "id": "DOID:869", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction." }, "synonyms": [], "evidence": [ { "id": "869", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:869" } ] }, { "disease_id": "DOID:8947", "recommended_name": { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "diabetic retinopathy", "description": "" }, "synonyms": [ { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "Retinal abnormality - diabetes-related", "description": "" } ], "evidence": [ { "id": "8947", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ] }, { "disease_id": "DOID:9351", "recommended_name": { "id": "DOID:9351", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both." }, "synonyms": [ { "id": "DOID:9351", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9351", "name": "diabetes", "description": "" } ], "evidence": [ { "id": "9351", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ] }, { "disease_id": "DOID:9719", "recommended_name": { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5." }, "synonyms": [ { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "ADNIV", "description": "" }, { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "Retinitis proliferans", "description": "" }, { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "proliferative vitreoretinopathy", "description": "" }, { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "autosomal dominant neovascular inflammatory vitreoretinopathy", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "CAPN5-related vitreoretinopathy", "description": "An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients." }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "proliferative vitreoretinopathy", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "ADNIV", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "CAPN5 vitreoretinopathy", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "VRNI", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "autosomal dominant neovascular inflammatory vitreoretinopathy", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "retinitis proliferans", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "vitreoretinopathy, neovascular inflammatory", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "vitreoretinopathy, neovascular inflammatory, autosomal dominant", "description": "" }, { "id": "MIM:193235", "resource": "MIM", "url": "https://www.omim.org/entry/193235", "name": "Vitreoretinopathy, neovascular inflammatory", "description": "Vitreoretinopathy, neovascular inflammatory" } ], "evidence": [ { "id": "9719", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ] }, { "disease_id": "DOID:9743", "recommended_name": { "id": "DOID:9743", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9743", "name": "diabetic neuropathy", "description": "" }, "synonyms": [], "evidence": [ { "id": "9743", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ] }, { "disease_id": "DOID:9970", "recommended_name": { "id": "DOID:9970", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness." }, "synonyms": [ { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "inherited obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity (disease)", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "leanness, inherited, autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "monogenic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, association with, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, early-onset, susceptibility to, 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"resource": "MIM", "url": "https://www.omim.org/entry/601665", "name": "Obesity", "description": "Obesity" } ], "evidence": [ { "id": "9970", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q08048", "url": "https://www.uniprot.org/uniprot/Q08048" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Hgf", "url": "https://www.uniprot.org/uniprot/Q08048", "locus": { "chromosome": "5", "start_pos": 16825150, "end_pos": 16758493, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000028864", "url": "https://www.ensembl.org/id/ENSMUSG00000028864" } ] } } ], "crossref": [ { "id": "ENSMUSG00000028864", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000028864", "database": "Bgee", "categories": [ "Gene Expression" ] }, { 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"MMWGTKLLPVLLLQHVLLHLLLLHVAIPYAEGQKKRRNTLHEFKKSAKTTLTKEDPLLKIKTKKVNSADECANRCIRNRGFTFTCKAFVFDKSRKRCYWYPFNSMSSGVKKGFGHEFDLYENKDYIRNCIIGKGGSYKGTVSITKSGIKCQPWNSMIPHEHSYRGKDLQENYCRNPRGEEGGPWCFTSNPEVRYEVCDIPQCSEVECMTCNGESYRGPMDHTESGKTCQRWDQQTPHRHKFLPERYPDKGFDDNYCRNPDGKPRPWCYTLDPDTPWEYCAIKTCAHSAVNETDVPMETTECIQGQGEGYRGTSNTIWNGIPCQRWDSQYPHKHDITPENFKCKDLRENYCRNPDGAESPWCFTTDPNIRVGYCSQIPKCDVSSGQDCYRGNGKNYMGNLSKTRSGLTCSMWDKNMEDLHRHIFWEPDASKLNKNYCRNPDDDAHGPWCYTGNPLIPWDYCPISRCEGDTTPTIVNLDHPVISCAKTKQLRVVNGIPTQTTVGWMVSLKYRNKHICGGSLIKESWVLTARQCFPARNKDLKDYEAWLGIHDVHERGEEKRKQILNISQLVYGPEGSDLVLLKLARPAILDNFVSTIDLPSYGCTIPEKTTCSIYGWGYTGLINADGLLRVAHLYIMGNEKCSQHHQGKVTLNESELCAGAEKIGSGPCEGDYGGPLICEQHKMRMVLGVIVPGRGCAIPNRPGIFVRVAYYAKWIHKVILTYKL", "length": 723, "header": "sp|Q08048-2|HGF_MOUSE Isoform 2 of Hepatocyte growth factor OS=Mus musculus OX=10090 GN=Hgf PE=1 SV=1 CANONICAL=Q08048-1" }, "locus": { "chromosome": "5", "start_pos": 16823988, "end_pos": 16758926, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000196645", "url": "https://www.ensembl.org/id/ENSMUST00000196645" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000142517", "url": "https://www.ensembl.org/id/ENSMUSP00000142517" } ] } }, { "isoform_ac": "Q08048-3", "url": "", "sequence": { "sequence": "MMWGTKLLPVLLLQHVLLHLLLLHVAIPYAEGQKKRRNTLHEFKKSAKTTLTKEDPLLKIKTKKVNSADECANRCIRNRGFTFTCKAFVFDKSRKRCYWYPFNSMSSGVKKGFGHEFDLYENKDYIRNCIIGKGGSYKGTVSITKSGIKCQPWNSMIPHEHSFLPSSYRGKDLQENYCRNPRGEEGGPWCFTSNPEVRYEVCDIPQCSEGK", "length": 211, "header": "sp|Q08048-3|HGF_MOUSE Isoform 3 of Hepatocyte growth factor OS=Mus musculus OX=10090 GN=Hgf PE=1 SV=1 CANONICAL=Q08048-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "Q08048", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08048#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 403, "start_aa": "Asn", "end_pos": 403, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn403", "evidence": [ { "id": "Q08048", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08048#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 569, "start_aa": "Asn", "end_pos": 569, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn569", "evidence": [ { "id": "Q08048", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08048#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 656, "start_aa": "Asn", "end_pos": 656, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn656", "evidence": [ { "id": "Q08048", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08048#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "A mechanistic basis for converting a receptor tyrosine kinase agonist to an antagonist.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2007", "authors": "Xu H.E., Gao C., Xie Q., Tolbert W.D., Gherardi E., Daugherty J., Miranti C., Woude G.V.", "evidence": [ { "database": "UniProtKB", "id": "Q08048", "url": "https://www.uniprot.org/uniprot/Q08048" } ], "reference": [ { "type": "PubMed", "id": "17804794", "url": "https://glygen.org/publication/PubMed/17804794" } ] }, { "title": "Purification and characterization of biologically active scatter factor from ras-transformed NIH 3T3 conditioned medium.", "journal": "Biochem. J.", "date": "1991", "authors": "Coffer A, Fellows J, Young S, Pappin D, Rahman D", "evidence": [ { "database": "UniProtKB", "id": "Q08048", "url": "https://www.uniprot.org/uniprot/Q08048" } ], "reference": [ { "type": "PubMed", "id": "1831975", "url": "https://glygen.org/publication/PubMed/1831975" } ] }, { "title": "Structural basis for agonism and antagonism of hepatocyte growth factor.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2010", "authors": "Xu H.E., Tolbert W.D., Daugherty-Holtrop J., Gherardi E., Vande Woude G.", "evidence": [ { "database": "UniProtKB", "id": "Q08048", "url": "https://www.uniprot.org/uniprot/Q08048" } ], "reference": [ { "type": "PubMed", "id": "20624990", "url": "https://glygen.org/publication/PubMed/20624990" } ] }, { "title": "Hepatocytes and scatter factor.", "journal": "Nature", "date": "1990", "authors": "Gherardi E., Stoker M.", "evidence": [ { "database": "UniProtKB", "id": "Q08048", "url": "https://www.uniprot.org/uniprot/Q08048" } ], "reference": [ { "type": "PubMed", "id": "2142751", "url": "https://glygen.org/publication/PubMed/2142751" } ] }, { "title": "Purified scatter factor stimulates epithelial and vascular endothelial cell migration.", "journal": "Proc. Soc. Exp. Biol. Med.", "date": "1990", "authors": "Goldberg I.D., Rosen E.M., Meromsky L., Setter E., Vinter D.W.", "evidence": [ { "database": "UniProtKB", "id": "Q08048", "url": "https://www.uniprot.org/uniprot/Q08048" } ], "reference": [ { "type": "PubMed", "id": "2144630", "url": "https://glygen.org/publication/PubMed/2144630" } ] }, { "title": "Upregulation of Reg IV and Hgf mRNAs by Intermittent Hypoxia via Downregulation of microRNA-499 in Cardiomyocytes.", "journal": "International journal of molecular sciences", "date": "2022-10-17", "authors": "Takasawa Shin, Itaya-Hironaka Asako, Makino Mai, Yamauchi Akiyo, Sakuramoto-Tsuchida Sumiyo, Uchiyama Tomoko, Shobatake Ryogo, Takeda Yoshinori, Ota Hiroyo", "evidence": [ { "database": "RefSeq", "id": "NP_001276387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276387" } ], "reference": [ { "type": "PubMed", "id": "36293268", "url": "https://glygen.org/publication/PubMed/36293268" } ] }, { "title": "HGF secreted by menstrual blood-derived endometrial stem cells ameliorates non-alcoholic fatty liver disease through downregulation of hepatic Rnf186.", "journal": "Stem cells (Dayton, Ohio)", "date": "2022-12-27", "authors": "Du Jiang, Jiang Yan, Liu Xinlei, Ji Xiang, Xu Bo, Zhang Yan, Liu Yanli, Zhang Tao, Lin Juntang", "evidence": [ { "database": "RefSeq", "id": "NP_001276387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276387" } ], "reference": [ { "type": "PubMed", "id": "36573461", "url": "https://glygen.org/publication/PubMed/36573461" } ] }, { "title": "Characterisation of the scatter factor/hepatocyte growth factor gene promoter: positive and negative regulatory elements direct gene expression to mesenchymal cells.", "journal": "J. Biol. Chem.", "date": "1995", "authors": "Behrens J., Birchmeier W., Gherardi E., Plaschke-Schluetter A.", "evidence": [ { "database": "UniProtKB", "id": "Q08048", "url": "https://www.uniprot.org/uniprot/Q08048" } ], "reference": [ { "type": "PubMed", "id": "7822318", "url": "https://glygen.org/publication/PubMed/7822318" } ] }, { "title": "Structure, genetic mapping, and expression of the mouse Hgf/scatter factor gene.", "journal": "Cell Adhes. Commun.", "date": "1993", "authors": "Lee C.C., Kozak C.A., Yamada K.M.", "evidence": [ { "database": "UniProtKB", "id": "Q08048", "url": "https://www.uniprot.org/uniprot/Q08048" } ], "reference": [ { "type": "PubMed", "id": "8081873", "url": "https://glygen.org/publication/PubMed/8081873" } ] }, { "title": "Identification of mouse mammary fibroblast-derived mammary growth factor as hepatocyte growth factor.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1994", "authors": "Sasaki M., Sasaki T., Nishio M., Enami J.", "evidence": [ { "database": "UniProtKB", "id": "Q08048", "url": "https://www.uniprot.org/uniprot/Q08048" } ], "reference": [ { "type": "PubMed", "id": "8135822", "url": "https://glygen.org/publication/PubMed/8135822" } ] }, { "title": "Molecular cloning and characterization of cDNA encoding mouse hepatocyte growth factor.", "journal": "Biochim. Biophys. Acta", "date": "1993", "authors": "Liu Y., Michalopoulos G.K., Zarnegar R.", "evidence": [ { "database": "UniProtKB", "id": "Q08048", "url": "https://www.uniprot.org/uniprot/Q08048" } ], "reference": [ { "type": "PubMed", "id": "8241272", "url": "https://glygen.org/publication/PubMed/8241272" } ] }, { "title": "NK1, a natural splice variant of hepatocyte growth factor/scatter factor, is a partial agonist in vivo.", "journal": "Mol. Cell. Biol.", "date": "1998", "authors": "Merlino G., LaRochelle W.J., Jakubczak J.L.", "evidence": [ { "database": "UniProtKB", "id": "Q08048", "url": "https://www.uniprot.org/uniprot/Q08048" } ], "reference": [ { "type": "PubMed", "id": "9488442", "url": "https://glygen.org/publication/PubMed/9488442" } ] } ], "pathway": [ { "id": "mmu:15234", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:15234", "resource": "KEGG Pathway" }, { "id": "R-MMU-114608", "name": "Platelet degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-114608", "resource": "Reactome", "description": "Platelet degranulation" }, { "id": "R-MMU-1257604", "name": "PIP3 activates AKT signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-1257604", "resource": "Reactome", "description": "PIP3 activates AKT signaling" }, { "id": "R-MMU-5673001", "name": "RAF/MAP kinase cascade", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5673001", "resource": "Reactome", 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