{ "uniprot_canonical_ac": "Q27368-1", "uniprot_ac": "Q27368", "uniprot_id": "E2F1_DROME", "mass": { "chemical_mass": 87460.0, "monoisotopic_mass": 87460.0 }, "refseq": { "ac": "NP_001262809", "name": "E2F transcription factor 1, isoform D", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001262809" }, "gene_names": [ { "name": "E2f1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "CG6376; dE2f; dE2F; de2f1; dE2f1; dE2F1; def21; DmE2F-1; Dmel\\CG6376; Dp; drosE2F1; DRTF1/E2F; E(Sev-CycE)3A; E(var)3-93E; E(var)3-95E; E(var)93E; e2f; E2f; E2F; E2F-1; e2f1; E2F1; Evar(3)164; l(3)07172; l(3)j3B1; l(3)j3C2; l(3)rM729", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287455", "id": "NP_001287455" }, { "name": "CG6376", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "DmE2F-1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "Dmel\\CG6376", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "Dmel_CG6376", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "Dp", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "E(Sev-CycE)3A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "E(var)3-93E", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "E(var)3-95E", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "E(var)93E", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "E2F-1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "E2F1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "E2F", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "E2f1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287455", "id": "NP_001287455" }, { "name": "E2f", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "Evar(3)164", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "dE2F1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "dE2F", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "dE2f1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "dE2f", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "de2f1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "def21", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "drosE2F1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "e2f1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "e2f", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "l(3)07172", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "l(3)j3B1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "l(3)j3C2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" }, { "name": "l(3)rM729", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q27368", "id": "Q27368" } ], "protein_names": [ { "name": "Transcription factor E2f1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q27368" }, { "name": "CG6376-PD; E2f1-PD; E2F transcription factor; E2-promoter binding factor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001262809", "id": "NP_001262809" }, { "name": "CG6376-PF; E2f1-PF; E2F transcription factor; E2-promoter binding factor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287455", "id": "NP_001287455" }, { "name": "E2F transcription factor 1, isoform D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001262809", "id": "NP_001262809" }, { "name": "E2F transcription factor 1, isoform F", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287455", "id": "NP_001287455" }, { "name": "dE2F", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q27368" } ], "function": [ { "annotation": "Transcriptional activator that binds to E2f sites. Required for wild-type growth in mitotic and polytene tissues, Contributes to the expression of replication genes at the G1-S transition and Cyclin E. Activates cell proliferation in wing imaginal disk, which requires expression of vg.", "evidence": [ { "database": "UniProtKB", "id": "Q27368", "url": "https://www.uniprot.org/uniprot/Q27368#function" }, { "database": "PubMed", "id": "9271122", "url": "https://glygen.org/publication/PubMed/9271122" }, { "database": "PubMed", "id": "9418862", "url": "https://glygen.org/publication/PubMed/9418862" }, { "database": "PubMed", "id": "14526388", "url": "https://glygen.org/publication/PubMed/14526388" } ] } ], "disease": [ { "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:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "evidence": [ { "id": "11054", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:12858", "recommended_name": { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities." }, "synonyms": [ { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "HD", "description": "" }, { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington disease", "description": "" }, { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington's chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington disease", "description": "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "HD", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington disease", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington's chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington's disease", "description": "" }, { "id": "MIM:143100", "resource": "MIM", "url": "https://www.omim.org/entry/143100", "name": "Huntington disease", "description": "Huntington disease" } ], "evidence": [ { "id": "12858", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ] }, { "disease_id": "DOID:12894", "recommended_name": { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva." }, "synonyms": [ { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "Sicca syndrome", "description": "" }, { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "Sjogren syndrome", "description": "" }, { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "xerodermosteosis", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjogren syndrome", "description": "An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjgren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjogren syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjgren syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjgren-Gougerot syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "primary Sjogren-Gougerot syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "primary Sjgren-Gougerot syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "sicca syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "syndrome, Sjogren's", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "xerodermosteosis", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjogren's syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "primary Sjgren syndrome", "description": "" } ], "evidence": [ { "id": "12894", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ] }, { "disease_id": "DOID:1307", "recommended_name": { "id": "DOID:1307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior." }, "synonyms": [], "evidence": [ { "id": "1307", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ] }, { "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:3068", "recommended_name": { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes." }, "synonyms": [ { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "GBM", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "adult glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "grade IV adult Astrocytic tumor", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "primary glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "spongioblastoma multiforme", "description": "" } ], "evidence": [ { "id": "3068", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ] }, { "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:3347", "recommended_name": { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin." }, "synonyms": [ { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "Osteogenic sarcoma", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "Skeletal sarcoma", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "bone tissue neoplasm", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "osteoid sarcoma", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "bone osteosarcoma", "description": "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs." }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "bone osteosarcoma", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "osteosarcoma of bone", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "osteosarcoma, somatic", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "osteosarcoma, somatic mutation", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "primary osteosarcoma of bone", "description": "" }, { "id": "MIM:259500", "resource": "MIM", "url": "https://www.omim.org/entry/259500", "name": "Osteogenic sarcoma", "description": "Osteogenic sarcoma" } ], "evidence": [ { "id": "3347", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ] }, { "disease_id": "DOID:3498", "recommended_name": { "id": "DOID:3498", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells." }, "synonyms": [ { "id": "DOID:3498", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3498", "name": "ductal adenocarcinoma of the pancreas", "description": "" } ], "evidence": [ { "id": "3498", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ] }, { "disease_id": "DOID:3907", "recommended_name": { "id": "DOID:3907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." }, "synonyms": [ { "id": "DOID:3907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3907", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "evidence": [ { "id": "3907", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ] }, { "disease_id": "DOID:3908", "recommended_name": { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma." }, "synonyms": [ { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "NSCLC", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "Non-small cell lung cancer", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "non-small cell lung carcinoma", "description": "" } ], "evidence": [ { "id": "3908", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ] }, { "disease_id": "DOID:3910", "recommended_name": { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3910", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ] }, { "disease_id": "DOID:4074", "recommended_name": { "id": "DOID:4074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:4074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4074", "name": "pancreas adenocarcinoma", "description": "" } ], "evidence": [ { "id": "4074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ] }, { "disease_id": "DOID:5409", "recommended_name": { "id": "DOID:5409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell lung carcinoma", "description": "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure." }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "SCLC", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma (morphologic abnormality)", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "poorly differentiated endocrine neoplasm", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung oat cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung small cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung small cell neuroendocrine carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell lung carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell cancer of the lung, somatic", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell lung cancer", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell neuroendocrine carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell neuroendocrine carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small-cell cancer of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "SCLC1", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell cancer of the lung", "description": "" } ], "evidence": [ { "id": "5409", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ] }, { "disease_id": "DOID:646", "recommended_name": { "id": "DOID:646", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:646", "name": "viral encephalitis", "description": "An encephalitis that involves inflammation of the brain caused by viral infection." }, "synonyms": [ { "id": "DOID:646", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:646", "name": "epidemic encephalitis", "description": "" } ], "evidence": [ { "id": "646", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:646" } ] }, { "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:9744", "recommended_name": { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production." }, "synonyms": [ { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "IDDM", "description": "" }, { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "type I diabetes mellitus", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type 1 diabetes mellitus", "description": "A chronic condition characterized by minimal or absent production of insulin by the pancreas." }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "IDDM", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "diabetes mellitis type 1", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "diabetes mellitis type I", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "immune mediated diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "juvenile diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type 1 diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type I diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type I diabetes mellitus", "description": "" }, { "id": "MIM:222100", "resource": "MIM", "url": "https://www.omim.org/entry/222100", "name": "Type 1 diabetes mellitus", "description": "Type 1 diabetes mellitus" } ], "evidence": [ { "id": "9744", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 153, "end_pos": 156, "sequence_org": "ITNY", "sequence_mut": "ATAA", "comment": "Abolishes interaction with PCNA and subsequent degradation by the proteasome.", "evidence": [ { "database": "UniProtKB", "id": "Q27368", "url": "https://www.uniprot.org/uniprot/Q27368" } ] } ], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q27368", "url": "https://www.uniprot.org/uniprot/Q27368" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "E2f1", "url": "https://www.uniprot.org/uniprot/Q27368", "locus": { "chromosome": "3R", "start_pos": 21620304, "end_pos": 21660871, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0011766", "url": "https://www.ensembl.org/id/FBgn0011766" } ] } } ], "crossref": [ { "id": "FBgn0011766", "url": "https://bgee.org/?page=gene&gene_id=FBgn0011766", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd14660", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd14660", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0011766", "url": "https://flybase.org/reports/FBgn0011766", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "42550", "url": "https://www.ncbi.nlm.nih.gov/gene/42550", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q27368", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q27368*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003316", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003316", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015633", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015633", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032198", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032198", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036388", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036388", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036390", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036390", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037241", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037241", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG6376", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG6376", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "YNCAMED", "url": "https://omabrowser.org/oma/group/YNCAMED/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1761at2759", "url": "http://www.orthodb.org/?query=1761at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12081", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12081", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12081:SF96", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12081:SF96", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF02319", "url": "http://pfam.xfam.org/family/PF02319", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16421", "url": "http://pfam.xfam.org/family/PF16421", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q27368", "url": "http://purl.obolibrary.org/obo/PR_Q27368", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-DME-68911", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-68911", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-69231", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-69231", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8953750", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001287455", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287455", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0B4KGM3", "url": "https://www.uniprot.org/uniprot/A0A0B4KGM3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0B4KGM3-1", "url": "https://www.uniprot.org/uniprot/A0A0B4KGM3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0B4LHG1", "url": "https://www.uniprot.org/uniprot/A0A0B4LHG1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0B4LHG1-1", "url": "https://www.uniprot.org/uniprot/A0A0B4LHG1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q27368", "url": "https://www.uniprot.org/uniprot/Q27368", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q27368-1", "url": "https://www.uniprot.org/uniprot/Q27368-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSKFFVNVAPINNSNSSSSHTTTSSNTQRHQQHQQHYGGSGTTGHTMVARRLNYDLHGGTTSINNNNNIVIKNESVDLDYDHVLSSSDSNSNGGVAAHLRDHVYISLDKGHNTGAVATAAAAATAGHTQQQLQQQHHHQNQQQRKATGKSNDITNYYKVKRRPHAVSDEIHPKKQAKQSAHHQTVYQKHTASSAPQQLRHSHHQLRHDADAELDEDVVERVAKPASHHPFSLSTPQQQLAASVASSSSSGDRNRADTSLGILTKKFVDLLQESPDGVVDLNEASNRLHVQKRRIYDITNVLEGINILEKKSKNNIQWRCGQSMVSQERSRHIEADSLRLEQQENELNKAIDLMRENLAEISQEVENSGGMAYVTQNDLLNVDLFKDQIVIVIKAPPEAKLVLPNTKLPREIYVKAENSGEINVFLCHDTSPENSPIAPGAGYVGAPGAGCVRTATSTRLHPLTNQRLNDPLFNNIDAMSTKGLFQTPYRSARNLSKSIEEAAKQSQPEYNNICDIAMGQHHNLNQQQQQQQQQLLQQPEEDDVDVELNQLVPTLTNPVVRTHQFQQHQQPSIQELFSSLTESSPPTPTKRRREAAAAAIAAGSSTTATTTLNSHNNRNHSNHSNHSNHSSSNNSKSQPPTIGYGSSQRRSDVPMYNCAMEGATTTSATADTTAATSRSAAASSLQMQFAAVAESNNGSSSGGGGGGGGYGSIAGAGANADPHQPYSHDRNSLPPGVADCDANSNSSSVTLQGLDALFNDIGSDYFSNDIAFVSINPPDDNDYPYALNANEGIDRLFDFGSDAYGP", "length": 805, "header": "sp|Q27368-1|E2F1_DROME Isoform 1 of Transcription factor E2f1 OS=Drosophila melanogaster OX=7227 GN=E2f1 PE=1 SV=2 CANONICAL=Q27368-1" }, "isoforms": [ { "isoform_ac": "A0A0B4KGM3-1", "url": "", "sequence": { "sequence": "MSKFFVNVAPINNSNSSSSHTTTSSNTQRHQQHQQHYGGSGTTGHTMVARRLNYDLHGGTTSINNNNNIVIKNESVDLDYDHVLSSSDSNSNGGVAAHLRDHVYISLDKGHNTGAVATAAAAATAGHTQQQLQQQHHHQNQQQRKATGKSNDITNYYKVKRRPHAVSDEIHPKKQAKQSAHHQTVYQKHTASSAPQQLRHSHHQLRHDADAELDEDVVERVAKPASHHPFSLSTPQQQLAASVASSSSSGDRNRADTSLGILTKKFVDLLQESPDGVVDLNEASNRLHVQKRRIYDITNVLEGINILEKKSKNNIQWRCGQSMVSQERSRHIEADSLRLEQQENELNKAIDLMRENLAEISQEVENSGGMAYVTQNDLLNVDLFKDQIVIVIKAPPEAKLVRSATALKFQPLPFNLNLPNTKLPREIYVKAENSGEINVFLCHDTSPENSPIAPGAGYVGAPGAGCVRTATSTRLHPLTNQRLNDPLFNNIDAMSTKGLFQTPYRSARNLSKSIEEAAKQSQPEYNNICDIAMGQHHNLNQQQQQQQQQLLQQPEEDDVDVELNQLVPTLTNPVVRTHQFQQHQQPSIQELFSSLTESSPPTPTKRRREAAAAAIAAGSSTTATTTLNSHNNRNHSNHSNHSNHSSSNNSKSQPPTIGYGSSQRRSDVPMYNCAMEGATTTSATADTTAATSRSAAASSLQMQFAAVAESNNGSSSGGGGGGGGYGSIAGAGANADPHQPYSHDRNSLPPGVADCDANSNSSSVTLQGLDALFNDIGSDYFSNDIAFVSINPPDDNDYPYALNANEGIDRLFDFGSDAYGP", "length": 821, "header": "tr|A0A0B4KGM3-1|E2F1_DROME Computationally mapped isoform of Transcription factor E2f1 OS=Drosophila melanogaster OX=7227 GN=E2f1 PE=1 SV=1 CANONICAL=Q27368-1" }, "locus": { "chromosome": "3R", "start_pos": 21626497, "end_pos": 21621572, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0345217", "url": "https://www.ensembl.org/id/FBtr0345217" }, { "database": "Ensembl Peptide", "id": "FBpp0311412", "url": "https://www.ensembl.org/id/FBpp0311412" } ] } }, { "isoform_ac": "A0A0B4LHG1-1", "url": "", "sequence": { "sequence": "MSKFFVNVAPINNSNSSSSHTTTSSNTQRHQQHQQHYGGSGTTGHTMVARRLNYDLHGGTTSINNNNNIVIKNESVDLDYDHVLSSSDSNSNGGVAAHLRDHVYISLDKGHNTGAVATAAAAATAGHTQQQLQQQHHHQNQQQRKATGKSNDITNYYKVKRRPHAVSDEIHPKKQAKQSAHHQTVYQKHTASSAPQQLRHSHHQLRHDADAELDEDVVERVAKPASHHPFSLSTPQQQLAASVASSSSSGDRNRADTSLGILTKKFVDLLQESPDGVVDLNEASNRLHVQKRRIYDITNVLEGINILEKKSKNNIQWRCGQSMVSQERSRHIEADSLRLEQQENELNKAIDLMRENLAEISQEVENSGGMAYVTQNDLLNVDLFKDQIVIVIKAPPEAKLVLPNTKLPREIYVKAENSGEINVFLCHDTSPENSPIAPGAGYVGAPGAGCVRTATSTRLHPLTNQRLNDPLFNNIDAMSTKGLFQTPYRSARNLSKSIEEAAKQSQPEYNNICDIAMGQHHNLNQQQQQQQQQLLQQPEEDDVDVELNQLVPTLTNPVVRTHQFQQHQQPSIQELFSSLTESSPPTPTKRRREAAAAAIAAGSSTTATTTLNSHNNRNHSNHSNHSNHSSSNNSKSQPPTIGYGSSQRRSDVPMYNCAMEGATTTSATADTTAATSRSAAASSLQMQFAAVAESNNGSSSGGGGGGGGYGSIAGAGANADPHQPYSHDRNSLPPGVADCDANSNSSSVTLQGLDALFNDIGSDYFSNDIAFVSINPPDDNDYPYALNANEGIDRLFDFGSDAYGP", "length": 805, "header": "tr|A0A0B4LHG1-1|E2F1_DROME Computationally mapped isoform of Transcription factor E2f1 OS=Drosophila melanogaster OX=7227 GN=E2f1 PE=1 SV=1 CANONICAL=Q27368-1" }, "locus": { "chromosome": "3R", "start_pos": 21626497, "end_pos": 21621572, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0084117", "url": "https://www.ensembl.org/id/FBtr0084117" }, { "database": "Ensembl Peptide", "id": "FBpp0083516", "url": "https://www.ensembl.org/id/FBpp0083516" } ] } }, { "isoform_ac": "Q27368-1", "url": "", "sequence": { "sequence": "MSKFFVNVAPINNSNSSSSHTTTSSNTQRHQQHQQHYGGSGTTGHTMVARRLNYDLHGGTTSINNNNNIVIKNESVDLDYDHVLSSSDSNSNGGVAAHLRDHVYISLDKGHNTGAVATAAAAATAGHTQQQLQQQHHHQNQQQRKATGKSNDITNYYKVKRRPHAVSDEIHPKKQAKQSAHHQTVYQKHTASSAPQQLRHSHHQLRHDADAELDEDVVERVAKPASHHPFSLSTPQQQLAASVASSSSSGDRNRADTSLGILTKKFVDLLQESPDGVVDLNEASNRLHVQKRRIYDITNVLEGINILEKKSKNNIQWRCGQSMVSQERSRHIEADSLRLEQQENELNKAIDLMRENLAEISQEVENSGGMAYVTQNDLLNVDLFKDQIVIVIKAPPEAKLVLPNTKLPREIYVKAENSGEINVFLCHDTSPENSPIAPGAGYVGAPGAGCVRTATSTRLHPLTNQRLNDPLFNNIDAMSTKGLFQTPYRSARNLSKSIEEAAKQSQPEYNNICDIAMGQHHNLNQQQQQQQQQLLQQPEEDDVDVELNQLVPTLTNPVVRTHQFQQHQQPSIQELFSSLTESSPPTPTKRRREAAAAAIAAGSSTTATTTLNSHNNRNHSNHSNHSNHSSSNNSKSQPPTIGYGSSQRRSDVPMYNCAMEGATTTSATADTTAATSRSAAASSLQMQFAAVAESNNGSSSGGGGGGGGYGSIAGAGANADPHQPYSHDRNSLPPGVADCDANSNSSSVTLQGLDALFNDIGSDYFSNDIAFVSINPPDDNDYPYALNANEGIDRLFDFGSDAYGP", "length": 805, "header": "sp|Q27368-1|E2F1_DROME Isoform 1 of Transcription factor E2f1 OS=Drosophila melanogaster OX=7227 GN=E2f1 PE=1 SV=2 CANONICAL=Q27368-1" }, "locus": { "chromosome": "3R", "start_pos": 21626497, "end_pos": 21621572, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0084117", "url": "https://www.ensembl.org/id/FBtr0084117" }, { "database": "Ensembl Peptide", "id": "FBpp0083516", "url": "https://www.ensembl.org/id/FBpp0083516" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 434, "end_pos": 434, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q27368", "url": "https://www.uniprot.org/uniprot/Q27368" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "Q27368", "url": "http://phospho.elm.eu.org/byAccession/Q27368.html" }, { "database": "iPTMnet", "id": "Q27368", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q27368" } ], "site_lbl": "Ser434" } ], "glycation": [], "keywords": [], "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": "A0A0B4LHG1", "url": "https://www.uniprot.org/uniprot/A0A0B4LHG1" }, { "database": "UniProtKB", "id": "A0A0B4KGM3", "url": "https://www.uniprot.org/uniprot/A0A0B4KGM3" }, { "database": "UniProtKB", "id": "Q27368", "url": "https://www.uniprot.org/uniprot/Q27368" } ], "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": "A0A0B4LHG1", "url": "https://www.uniprot.org/uniprot/A0A0B4LHG1" }, { "database": "UniProtKB", "id": "A0A0B4KGM3", "url": "https://www.uniprot.org/uniprot/A0A0B4KGM3" } ], "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": "A0A0B4LHG1", "url": "https://www.uniprot.org/uniprot/A0A0B4LHG1" }, { "database": "UniProtKB", "id": "A0A0B4KGM3", "url": "https://www.uniprot.org/uniprot/A0A0B4KGM3" }, { "database": "UniProtKB", "id": "Q27368", "url": "https://www.uniprot.org/uniprot/Q27368" } ], "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": "A0A0B4LHG1", "url": "https://www.uniprot.org/uniprot/A0A0B4LHG1" }, { "database": "UniProtKB", "id": "A0A0B4KGM3", "url": "https://www.uniprot.org/uniprot/A0A0B4KGM3" } ], "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": "A0A0B4LHG1", "url": "https://www.uniprot.org/uniprot/A0A0B4LHG1" }, { "database": "UniProtKB", "id": "A0A0B4KGM3", "url": "https://www.uniprot.org/uniprot/A0A0B4KGM3" } ], "reference": [ { "type": "PubMed", "id": "12537574", "url": "https://glygen.org/publication/PubMed/12537574" } ] }, { "title": "The Drosophila wing differentiation factor vestigial-scalloped is required for cell proliferation and cell survival at the dorso-ventral boundary of the wing imaginal disc.", "journal": "Cell Death Differ.", "date": "2004", "authors": "Silber J., Flagiello D., Delanoue R., Vaudin P., Legent K., Becker J.L., Dutriaux A., Godefroy N.", "evidence": [ { "database": "UniProtKB", "id": "Q27368", "url": "https://www.uniprot.org/uniprot/Q27368" } ], "reference": [ { "type": "PubMed", "id": "14526388", "url": "https://glygen.org/publication/PubMed/14526388" } ] }, { "title": "Combined evidence annotation of transposable elements in genome sequences.", "journal": "PLoS Comput. 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