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Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. 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THC1", "id": "MONDO:0010743" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010743", "resource": "MONDO", "description": "", "name": "THC1", "id": "MONDO:0010743" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010743", "resource": "MONDO", "description": "", "name": "thrombocytopenia, X-linked, 1", "id": "MONDO:0010743" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010743", "resource": "MONDO", "description": "", "name": "thrombocytopenia, X-linked", "id": "MONDO:0010743" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010743", "resource": "MONDO", "description": "", "name": "thrombocytopenia 1", "id": "MONDO:0010743" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010743", "resource": "MONDO", "description": "", "name": "thrombocytopenia, X-linked, intermittent", "id": "MONDO:0010743" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010743", "resource": "MONDO", "description": "", "name": "XLT", "id": "MONDO:0010743" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010743", "resource": "MONDO", "description": "", "name": "THC", "id": "MONDO:0010743" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010743", "resource": "MONDO", "description": "", "name": "thrombocytopenia type 1", "id": "MONDO:0010743" }, { "url": "https://www.omim.org/entry/300367", "resource": "MIM", "description": "X-linked dyserythropoietic anemia and thrombocytopenia", "name": "X-linked dyserythropoietic anemia and thrombocytopenia", "id": "MIM:300367" }, { "url": "https://www.omim.org/entry/612004", "resource": "MIM", "description": "Thrombocytopenia 4", "name": "Thrombocytopenia 4", "id": "MIM:612004" }, { "url": "https://www.omim.org/entry/273900", "resource": "MIM", "description": "Thrombocytopenia 3", "name": "Thrombocytopenia 3", "id": "MIM:273900" }, { "url": "https://www.omim.org/entry/188000", "resource": "MIM", "description": "Thrombocytopenia 2", "name": "Thrombocytopenia 2", "id": "MIM:188000" }, { "url": "https://www.omim.org/entry/313900", "resource": "MIM", "description": "Thrombocytopenia 1", "name": "Thrombocytopenia 1", "id": "MIM:313900" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1588", "resource": "Disease Ontology", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "name": "thrombocytopenia", "id": "DOID:1588" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/1588#disease-associations", "id": "1588", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:1883", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1883", "resource": "Disease Ontology", "description": "", "name": "NANBH", "id": "DOID:1883" }, { "url": "http://disease-ontology.org/term/DOID:1883", "resource": "Disease Ontology", "description": "", "name": "Viral hepatitis C", "id": "DOID:1883" }, { "url": "http://disease-ontology.org/term/DOID:1883", "resource": "Disease Ontology", "description": "", "name": "hepatitis nonA nonB", "id": "DOID:1883" }, { "url": "http://disease-ontology.org/term/DOID:1883", "resource": "Disease Ontology", "description": "", "name": "hepatitis C infection", "id": "DOID:1883" }, { "url": "http://disease-ontology.org/term/DOID:1883", "resource": "Disease Ontology", "description": "", "name": "chronic hepatitis C", "id": "DOID:1883" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1883", "resource": "Disease Ontology", "description": "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "name": "hepatitis C", "id": "DOID:1883" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/1883#disease-associations", "id": "1883", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:2917", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2917", "resource": "Disease Ontology", "description": "", "name": "Cryoimmunoglobulinaemia", "id": "DOID:2917" }, { "url": "http://disease-ontology.org/term/DOID:2917", "resource": "Disease Ontology", "description": "", "name": "CRYOGLOBULINEMIA", "id": "DOID:2917" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2917", "resource": "Disease Ontology", "description": "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.", "name": "cryoglobulinemia", "id": "DOID:2917" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/2917#disease-associations", "id": "2917", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:5082", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:5082", "resource": "Disease Ontology", "description": "", "name": "cirrhosis of liver", "id": "DOID:5082" }, { "url": "http://disease-ontology.org/term/DOID:5082", "resource": "Disease Ontology", "description": "", "name": "Cirrhosis", "id": "DOID:5082" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:5082", "resource": "Disease Ontology", "description": "", "name": "liver cirrhosis", "id": "DOID:5082" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/5082#disease-associations", "id": "5082", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 21459.0, "chemical_mass": 21459.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWM7", "name": "Ifnl1", "locus": { "end_pos": 85253635, "strand": "+", "start_pos": 85252103, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000056251", "id": "ENSRNOG00000056251", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWM7#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Interferon, lambda 1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2JWM7", "type": "synonym", "resource": "RefSeq", "name": "interferon lambda-2-like" } ] }