{ "uniprot_canonical_ac": "Q9VRB3-1", "uniprot_ac": "Q9VRB3", "uniprot_id": "CP6V1_DROME", "mass": { "chemical_mass": 60763.0, "monoisotopic_mass": 60763.0 }, "refseq": { "ac": "NP_001285499", "name": "cytochrome P450 6v1, isoform B", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001285499" }, "gene_names": [ { "name": "Cyp6v1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9VRB3", "id": "Q9VRB3" }, { "name": "6v1; CG1829; Dmel\\CG1829", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001285499", "id": "NP_001285499" }, { "name": "6v1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VRB3", "id": "Q9VRB3" }, { "name": "CG1829", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VRB3", "id": "Q9VRB3" }, { "name": "Cyp6v1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001285499", "id": "NP_001285499" }, { "name": "Dmel\\CG1829", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VRB3", "id": "Q9VRB3" }, { "name": "Dmel_CG1829", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VRB3", "id": "Q9VRB3" } ], "protein_names": [ { "name": "Probable cytochrome P450 6v1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9VRB3" }, { "name": "1.14.-.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9VRB3" }, { "name": "CG1829-PB; Cyp6v1-PB; cytochrome P450", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001285499", "id": "NP_001285499" }, { "name": "CYPVIV1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9VRB3" }, { "name": "cytochrome P450 6v1, isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001285499", "id": "NP_001285499" } ], "function": [ { "annotation": "May be involved in the metabolism of insect hormones and in the breakdown of synthetic insecticides.", "evidence": [ { "database": "UniProtKB", "id": "Q9VRB3", "url": "https://www.uniprot.org/uniprot/Q9VRB3#function" } ] } ], "disease": [ { "disease_id": "DOID:0080630", "recommended_name": { "id": "DOID:0080630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow." }, "synonyms": [ { "id": "DOID:0080630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080630", "name": "precursor B lymphoblastic lymphoma/leukemia", "description": "" }, { "id": "DOID:0080630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080630", "name": "B-ALL", "description": "" }, { "id": "DOID:0080630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080630", "name": "B lymphoblastic leukemia/lymphoma", "description": "" } ], "evidence": [ { "id": "0080630", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ], "evidence": [ { "id": "10283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:10825", "recommended_name": { "id": "DOID:10825", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension." }, "synonyms": [ { "id": "DOID:10825", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10825", "name": "idiopathic hypertension", "description": "" }, { "id": "DOID:10825", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10825", "name": "primary hypertension", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "hypertension, essential, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "hypertension, essential, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "hypertension, essential, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "Hyt1", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "hypertension, essential, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "hypertension, essential, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "hypertension, essential, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "Hyt3", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "hypertension, essential, susceptibility to, 2", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "hypertension, essential, susceptibility to, 2", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "hypertension, essential, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "Hyt2", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, susceptibility to, type 5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "Hyt5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, body Mass-related", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "essential hypertension, genetic", "description": "An instance of essential hypertension that is caused by a modification of the individual's genome." }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "blood pressure regulation QTL", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "genetic essential hypertension", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, salt-sensitive", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 2", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 3", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 4", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 5", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 6", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, susceptibility to", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "EHT", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 1", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, salt-sensitive essential, susceptibility to", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "hypertension, essential, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "hypertension, essential, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "hypertension, essential, susceptibility to, type 7", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "Hyt7", "description": "" }, { "id": "MONDO:0012599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012599", "name": "hypertension, essential, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012599", "name": "HYT8", "description": "" }, { "id": "MONDO:0012599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012599", "name": "hypertension, essential, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "hypertension, essential, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "hypertension, essential, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "hypertension, essential, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "Hyt4", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, susceptibility to, type 6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "Hyt6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, kidney function-related", "description": "" }, { "id": "MIM:145500", "resource": "MIM", "url": "https://www.omim.org/entry/145500", "name": "Essential hypertension", "description": "Essential hypertension" } ], "evidence": [ { "id": "10825", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ] }, { "disease_id": "DOID:13580", "recommended_name": { "id": "DOID:13580", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum." }, "synonyms": [ { "id": "DOID:13580", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13580", "name": "Obstruction of bile duct", "description": "" }, { "id": "DOID:13580", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13580", "name": "bile occlusion", "description": "" } ], "evidence": [ { "id": "13580", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ] }, { "disease_id": "DOID:2030", "recommended_name": { "id": "DOID:2030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations." }, "synonyms": [ { "id": "DOID:2030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2030", "name": "anxiety", "description": "" }, { "id": "DOID:2030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2030", "name": "anxiety state", "description": "" }, { "id": "MONDO:0011918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011918", "name": "anxiety", "description": "" }, { "id": "MONDO:0011918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011918", "name": "anxiety", "description": "" }, { "id": "MONDO:0011918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011918", "name": "anxiety-related personality traits", "description": "" }, { "id": "MONDO:0011918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011918", "name": "harm avoidance", "description": "" } ], "evidence": [ { "id": "2030", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ] }, { "disease_id": "DOID:2987", "recommended_name": { "id": "DOID:2987", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2987", "name": "familial Mediterranean fever", "description": "An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin." }, "synonyms": [ { "id": "DOID:2987", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2987", "name": "benign paroxysmal peritonitis", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, autosomal dominant", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, AD", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "familial Mediterranean fever, autosomal dominant", "description": "" }, { "id": "MONDO:0007601", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007601", "name": "Fmf, autosomal dominant", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "autosomal recessive familial Mediterranean fever", "description": "Autosomal recessive form of familial Mediterranean fever." }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "autosomal recessive familial Mediterranean fever", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever, AR", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever, autosomal recessive", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "FMF", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial MEDITERRANEAN FEVER", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "familial Mediterranean fever", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "polyserositis, familial paroxysmal", "description": "" }, { "id": "MONDO:0009572", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009572", "name": "polyserositis, recurrent", "description": "" }, { "id": "MIM:134610", "resource": "MIM", "url": "https://www.omim.org/entry/134610", "name": "Familial Mediterranean fever, autosomal dominant", "description": "Familial Mediterranean fever, autosomal dominant" }, { "id": "MIM:249100", "resource": "MIM", "url": "https://www.omim.org/entry/249100", "name": "Familial Mediterranean fever, autosomal recessive", "description": "Familial Mediterranean fever, autosomal recessive" } ], "evidence": [ { "id": "2987", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ] }, { "disease_id": "DOID:783", "recommended_name": { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease." }, "synonyms": [ { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal failure", "description": "" }, { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end-stage kidney disease", "description": "" } ], "evidence": [ { "id": "783", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:783" } ] }, { "disease_id": "DOID:8552", "recommended_name": { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells." }, "synonyms": [ { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "CML", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "CML - chronic Myelogenous Leukemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "Myeloid Leukemia, chronic", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic granulocytic leukaemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic granulocytic leukemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myelogenous leukaemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myelogenous leukemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myeloid leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemia, BCR-ABL1 positive", "description": "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "BCR-ABL Positive chronic myelogenous leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "BCR-ABL Positive chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "CML", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "CML - chronic myelogenous leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "CML - chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic granulocytic leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic granulocytic leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelocytic leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelocytic leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukaemia (CML)", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemia (CML)", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemia, BCR-ABL1 Positive", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemias", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myeloid leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myeloid leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "hematopoeitic - chronic myelocytic leukaemia (CML)", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "hematopoeitic - chronic myelocytic leukemia (CML)", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, chronic myeloid, Philadelphia chromosome positive, somatic", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "myeloid leukemia, chronic", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, chronic myelogenous", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, chronic myeloid", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, chronic myeloid, atypical", "description": "" }, { "id": "MIM:608232", "resource": "MIM", "url": "https://www.omim.org/entry/608232", "name": "Leukemia, chronic myeloid, atypical", "description": "Leukemia, chronic myeloid, atypical" } ], "evidence": [ { "id": "8552", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ] }, { "disease_id": "DOID:9952", "recommended_name": { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts." }, "synonyms": [ { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "ALL", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "precursor lymphoblastic lymphoma/leukemia", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphoblastic leukaemia", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphocytic leukaemia", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lymphoblastic leukemia, acute, 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"https://monarchinitiative.org/disease/MONDO:0013108", "name": "T-cell acute lymphoblastic leukemia, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, T-cell acute lymphoblastic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, T-cell acute lymphocytic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", 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"https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic, susceptibility to, 1", "description": "" }, { "id": "MIM:613065", "resource": "MIM", "url": "https://www.omim.org/entry/613065", "name": "Leukemia, acute lymphoblastic", "description": "Leukemia, acute lymphoblastic" } ], "evidence": [ { "id": "9952", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRB3", "url": "https://www.uniprot.org/uniprot/Q9VRB3" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "Cyp6v1", "url": "https://www.uniprot.org/uniprot/Q9VRB3", "locus": { "chromosome": "X", "start_pos": 20661425, "end_pos": 20657122, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0031126", "url": "https://www.ensembl.org/id/FBgn0031126" } ] } } ], "crossref": [ { "id": "FBgn0031126", "url": "https://bgee.org/?page=gene&gene_id=FBgn0031126", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd11056", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11056", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0031126", "url": "https://flybase.org/reports/FBgn0031126", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "33056", "url": "https://www.ncbi.nlm.nih.gov/gene/33056", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q9VRB3", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9VRB3*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001128", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001128", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002401", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002401", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017972", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017972", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036396", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036396", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG1829", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG1829", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "HNCIGMQ", "url": "https://omabrowser.org/oma/group/HNCIGMQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1611592at2759", "url": "http://www.orthodb.org/?query=1611592at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24292", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24292", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24292:SF45", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24292:SF45", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00067", "url": "http://pfam.xfam.org/family/PF00067", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q9VRB3", "url": "http://purl.obolibrary.org/obo/PR_Q9VRB3", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001285499", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001285499", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q9VRB3", "url": "https://www.uniprot.org/uniprot/Q9VRB3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VRB3-1", "url": "https://www.uniprot.org/uniprot/Q9VRB3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X2JGA6", "url": "https://www.uniprot.org/uniprot/X2JGA6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X2JGA6-1", "url": "https://www.uniprot.org/uniprot/X2JGA6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVYSTNILLAIVTILTGVFIWSRRTYVYWQRRRVKFVQPTHLLGNLSRVLRLEESFALQLRRFYFDERFRNEPVVGIYLFHQPALLIRDLQLVRTVLVEDFVSFSNRFAKCDGRSDKMGALSLFLAKQPEWREIRTRLAPAFAGAKLKQMFSLMEEIGCDLEWYLKRLTRDLRRGDAERGAIVSIKDVCDLYNTDMIASIAFGLRSYSLRNTQSEIGSHCQDLFRPNVRRIIDLFVIFYLPKLVPLLRPKLFTEPHAEFLRRVIQLVIEERERGGDLRNDLIEMLLTLKKEADLQQDKSHFTHHRDFLAAQAASFEVAGIETCSASMSFALYELAKQPLMQSRLRREIREAFASNPNGRLTYEAVARMEFLDMVVEETLRKYPIVPLLERECTPINKKRFYSLRPHAECYTRRGMPVFISNLAIHHDPKYWPDPDRFDPERFSAANKALQAPMSYMPFGAGPRNCIGMQIGLLQIKLGLVYFLHQHRVEICDRTVERIQFDAKFALLASEQRIYLKVDCL", "length": 520, "header": "sp|Q9VRB3-1|CP6V1_DROME Isoform 1 of Probable cytochrome P450 6v1 OS=Drosophila melanogaster OX=7227 GN=Cyp6v1 PE=2 SV=1 CANONICAL=Q9VRB3-1" }, "isoforms": [ { "isoform_ac": "Q9VRB3-1", "url": "", "sequence": { "sequence": "MVYSTNILLAIVTILTGVFIWSRRTYVYWQRRRVKFVQPTHLLGNLSRVLRLEESFALQLRRFYFDERFRNEPVVGIYLFHQPALLIRDLQLVRTVLVEDFVSFSNRFAKCDGRSDKMGALSLFLAKQPEWREIRTRLAPAFAGAKLKQMFSLMEEIGCDLEWYLKRLTRDLRRGDAERGAIVSIKDVCDLYNTDMIASIAFGLRSYSLRNTQSEIGSHCQDLFRPNVRRIIDLFVIFYLPKLVPLLRPKLFTEPHAEFLRRVIQLVIEERERGGDLRNDLIEMLLTLKKEADLQQDKSHFTHHRDFLAAQAASFEVAGIETCSASMSFALYELAKQPLMQSRLRREIREAFASNPNGRLTYEAVARMEFLDMVVEETLRKYPIVPLLERECTPINKKRFYSLRPHAECYTRRGMPVFISNLAIHHDPKYWPDPDRFDPERFSAANKALQAPMSYMPFGAGPRNCIGMQIGLLQIKLGLVYFLHQHRVEICDRTVERIQFDAKFALLASEQRIYLKVDCL", "length": 520, "header": "sp|Q9VRB3-1|CP6V1_DROME Isoform 1 of Probable cytochrome P450 6v1 OS=Drosophila melanogaster OX=7227 GN=Cyp6v1 PE=2 SV=1 CANONICAL=Q9VRB3-1" }, "locus": { "chromosome": "X", "start_pos": 20661250, "end_pos": 20658413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0077276", "url": "https://www.ensembl.org/id/FBtr0077276" }, { "database": "Ensembl Peptide", "id": "FBpp0076968", "url": "https://www.ensembl.org/id/FBpp0076968" } ] } }, { "isoform_ac": "X2JGA6-1", "url": "", "sequence": { "sequence": "MVYSTNILLAIVTILTGVFIWSRRTYVYWQRRRVKFVQPTHLLGNLSRVLRLEESFALQLRRFYFDERFRNEPVVGIYLFHQPALLIRDLQLVRTVLVEDFVSFSNRFAKCDGRSDKMGALSLFLAKQPEWREIRTRLAPAFAGAKLKQMFSLMEEIGCDLEWYLKRLTRDLRRGDAERGAIVSIKDVCDLYNTDMIASIAFGLRSYSLRNTQSEIGSHCQDLFRPNVRRIIDLFVIFYLPKLVPLLRPKLFTEPHAEFLRRVIQLVIEERERGGDLRNDLIEMLLTLKKEADLQQDKSHFTHHRDFLAAQAASFEVAGIETCSASMSFALYELAKQPLMQSRLRREIREAFASNPNGRLTYEAVARMEFLDMVVEETLRKYPIVPLLERECTPINKKRFYSLRPHAECYTRRGMPVFISNLAIHHDPKYWPDPDRFDPERFSAANKALQAPMSYMPFGAGPRNCIGMQIGLLQIKLGLVYFLHQHRVEICDRTVERIQFDAKFALLASEQRIYLKVDCL", "length": 520, "header": "tr|X2JGA6-1|X2JGA6_DROME Computationally mapped isoform of Cyp6v1, isoform C OS=Drosophila melanogaster OX=7227 GN=Cyp6v1 PE=3 SV=1 CANONICAL=Q9VRB3-1" }, "locus": { "chromosome": "X", "start_pos": 20661250, "end_pos": 20658413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0077276", "url": "https://www.ensembl.org/id/FBtr0077276" }, { "database": "Ensembl Peptide", "id": "FBpp0076968", "url": "https://www.ensembl.org/id/FBpp0076968" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "The genome sequence of Drosophila melanogaster.", "journal": "Science", "date": "2000", "authors": "Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": "UniProtKB", "id": "Q9VRB3", "url": "https://www.uniprot.org/uniprot/Q9VRB3" }, { "database": "UniProtKB", "id": "X2JGA6", "url": "https://www.uniprot.org/uniprot/X2JGA6" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence.", "journal": "Genome Biol.", "date": "2002", "authors": "Celniker SE, Wheeler DA, Kronmiller B, Carlson JW, Halpern A, Patel S, Adams M, Champe M, Dugan SP, Frise E, Hodgson A, George RA, Hoskins RA, Laverty T, Muzny DM, Nelson CR, Pacleb JM, Park S, Pfeiffer BD, Richards S, Sodergren EJ, Svirskas R, Tabor PE, Wan K, Stapleton M, Sutton GG, Venter C, Weinstock G, Scherer SE, Myers EW, Gibbs RA, Rubin GM", "evidence": [ { "database": "UniProtKB", "id": "X2JGA6", "url": "https://www.uniprot.org/uniprot/X2JGA6" } ], "reference": [ { "type": "PubMed", "id": "12537568", "url": "https://glygen.org/publication/PubMed/12537568" } ] }, { "title": "Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.", "journal": "Genome Biol.", "date": "2002", "authors": "Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, Smith CD, Tupy JL, Whitfied EJ, Bayraktaroglu L, Berman BP, Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "Q9VRB3", "url": "https://www.uniprot.org/uniprot/Q9VRB3" }, { "database": "UniProtKB", "id": "X2JGA6", "url": "https://www.uniprot.org/uniprot/X2JGA6" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "The transposable elements of the Drosophila melanogaster euchromatin: a genomics perspective.", "journal": "Genome Biol.", "date": "2002", "authors": "Kaminker JS, Bergman CM, Kronmiller B, Carlson J, Svirskas R, Patel S, Frise E, Wheeler DA, Lewis SE, Rubin GM, Ashburner M, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "X2JGA6", "url": "https://www.uniprot.org/uniprot/X2JGA6" } ], "reference": [ { "type": "PubMed", "id": "12537573", "url": "https://glygen.org/publication/PubMed/12537573" } ] }, { "title": "Heterochromatic sequences in a Drosophila whole-genome shotgun assembly.", "journal": "Genome Biol.", "date": "2002", "authors": "Hoskins RA, Smith CD, Carlson JW, Carvalho AB, Halpern A, Kaminker JS, Kennedy C, Mungall CJ, Sullivan BA, Sutton GG, Yasuhara JC, Wakimoto BT, Myers EW, Celniker SE, Rubin GM, Karpen GH", "evidence": [ { "database": "UniProtKB", "id": "X2JGA6", "url": "https://www.uniprot.org/uniprot/X2JGA6" } ], "reference": [ { "type": "PubMed", "id": "12537574", "url": "https://glygen.org/publication/PubMed/12537574" } ] }, { "title": "Combined evidence annotation of transposable elements in genome sequences.", "journal": "PLoS Comput. Biol.", "date": "2005", "authors": "Quesneville H, Bergman CM, Andrieu O, Autard D, Nouaud D, Ashburner M, Anxolabehere D", "evidence": [ { "database": "UniProtKB", "id": "X2JGA6", "url": "https://www.uniprot.org/uniprot/X2JGA6" } ], "reference": [ { "type": "PubMed", "id": "16110336", "url": "https://glygen.org/publication/PubMed/16110336" } ] }, { "title": "The Release 5.1 annotation of Drosophila melanogaster heterochromatin.", "journal": "Science", "date": "2007", "authors": "Smith CD, Shu S, Mungall CJ, Karpen GH", "evidence": [ { "database": "UniProtKB", "id": "X2JGA6", "url": "https://www.uniprot.org/uniprot/X2JGA6" } ], "reference": [ { "type": "PubMed", "id": "17569856", "url": "https://glygen.org/publication/PubMed/17569856" } ] }, { "title": "Sequence finishing and mapping of Drosophila melanogaster heterochromatin.", "journal": "Science", "date": "2007", "authors": "Hoskins RA, Carlson JW, Kennedy C, Acevedo D, Evans-Holm M, Frise E, Wan KH, Park S, Mendez-Lago M, Rossi F, Villasante A, Dimitri P, Karpen GH, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "X2JGA6", "url": "https://www.uniprot.org/uniprot/X2JGA6" } ], "reference": [ { "type": "PubMed", "id": "17569867", "url": "https://glygen.org/publication/PubMed/17569867" } ] }, { "title": "The Release 6 reference sequence of the Drosophila melanogaster genome.", "journal": "Genome Res.", "date": "2015", "authors": "Hoskins RA, Carlson JW, Wan KH, Park S, Mendez I, Galle SE, Booth BW, Pfeiffer BD, George RA, Svirskas R, Krzywinski M, Schein J, Accardo MC, Damia E, Messina G, Mendez-Lago M, de Pablos B, Demakova OV, Andreyeva EN, Boldyreva LV, Marra M, Carvalho AB, Dimitri P, Villasante A, Zhimulev IF, Rubin GM, Karpen GH, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "X2JGA6", "url": "https://www.uniprot.org/uniprot/X2JGA6" } ], "reference": [ { "type": "PubMed", "id": "25589440", "url": "https://glygen.org/publication/PubMed/25589440" } ] }, { "title": "Gene Model Annotations for Drosophila melanogaster: The Rule-Benders.", "journal": "G3 (Bethesda)", "date": "2015", "authors": "Crosby MA, Gramates LS, Dos Santos G, Matthews BB, St Pierre SE, Zhou P, Schroeder AJ, Falls K, Emmert DB, Russo SM, Gelbart WM", "evidence": [ { "database": "UniProtKB", "id": "X2JGA6", "url": "https://www.uniprot.org/uniprot/X2JGA6" } ], "reference": [ { "type": "PubMed", "id": "26109356", "url": "https://glygen.org/publication/PubMed/26109356" } ] }, { "title": "Gene Model Annotations for Drosophila melanogaster: Impact of High-Throughput Data.", "journal": "G3 (Bethesda)", "date": "2015", "authors": "Matthews BB, Dos Santos G, Crosby MA, Emmert DB, St Pierre SE, Gramates LS, Zhou P, Schroeder AJ, Falls K, Strelets V, Russo SM, Gelbart WM", "evidence": [ { "database": "UniProtKB", "id": "X2JGA6", "url": "https://www.uniprot.org/uniprot/X2JGA6" } ], "reference": [ { "type": "PubMed", "id": "26109357", "url": "https://glygen.org/publication/PubMed/26109357" } ] } ], 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