[ { "uniprot_canonical_ac": "P04637-1", "uniprot_ac": "P04637", "uniprot_id": "P53_HUMAN", "mass": { "chemical_mass": 43653.0, "monoisotopic_mass": 43653.0 }, "refseq": { "ac": "NP_000537", "name": "cellular tumor antigen p53 isoform a", "summary": "This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, "gene_names": [ { "name": "TP53", "type": "recommended", "evidence": [ { "id": "P04637", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04637" } ] }, { "name": "BCC7", "type": "synonym", "evidence": [ { "id": "NP_000537", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] }, { "name": "BMFS5", "type": "synonym", "evidence": [ { "id": "NP_000537", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] }, { "name": "LFS1", "type": "synonym", "evidence": [ { "id": "NP_000537", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] }, { "name": "P53", "type": "synonym", "evidence": [ { "id": "NP_000537", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "id": "P04637", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04637" } ] }, { "name": "TP53", "type": "synonym", "evidence": [ { "id": "NP_000537", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] }, { "name": "TRP53", "type": "synonym", "evidence": [ { "id": "NP_000537", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] } ], "protein_names": [ { "name": "Cellular tumor antigen p53", "type": "recommended", "evidence": [ { "id": "P04637", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04637/entry#names_and_taxonomy" } ] }, { "name": "Antigen NY-CO-13", "type": "synonym", "evidence": [ { "id": "P04637", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04637/entry#names_and_taxonomy" } ] }, { "name": "Phosphoprotein p53", "type": "synonym", "evidence": [ { "id": "P04637", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04637/entry#names_and_taxonomy" } ] }, { "name": "Tumor suppressor p53", "type": "synonym", "evidence": [ { "id": "P04637", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04637/entry#names_and_taxonomy" } ] }, { "name": "antigen NY-CO-13", "type": "synonym", "evidence": [ { "id": "NP_000537", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] }, { "name": "cellular tumor antigen p53 isoform a", "type": "synonym", "evidence": [ { "id": "NP_000537", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] }, { "name": "cellular tumor antigen p53", "type": "synonym", "evidence": [ { "id": "NP_000537", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] }, { "name": "mutant tumor protein 53", "type": "synonym", "evidence": [ { "id": "NP_000537", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] }, { "name": "phosphoprotein p53", "type": "synonym", "evidence": [ { "id": "NP_000537", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] }, { "name": "transformation-related protein 53", "type": "synonym", "evidence": [ { "id": "NP_000537", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] }, { "name": "tumor protein 53", "type": "synonym", "evidence": [ { "id": "NP_000537", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] }, { "name": "tumor supressor p53", "type": "synonym", "evidence": [ { "id": "NP_000537", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] } ], "function": [ { "annotation": "Common genetic variants in the TP53 pathway and their impact on cancer. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "31152665", "url": "https://glygen.org/publication/PubMed/31152665" } ] }, { "annotation": "Harbouring alternative translation initiation sites, the p53 mRNA gives rise to different levels of the p53 isoforms which help to orchestrate the cell biological outcome of p53 activation", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "16983332", "url": "https://glygen.org/publication/PubMed/16983332" } ] }, { "annotation": "Mechanism of p53 regulation originating through alternative splicing of the human p53 gene resulting in the expression of a novel p53 mRNA", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "15340061", "url": "https://glygen.org/publication/PubMed/15340061" } ] }, { "annotation": "Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:35618207, PubMed:36634798, PubMed:38653238, PubMed:9840937). Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17189187, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:38653238, PubMed:9840937). Negatively regulates cell division by controlling expression of a set of genes required for this process (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:9840937). One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression (PubMed:12524540, PubMed:17189187). Its pro-apoptotic activity is activated via its interaction with PPP1R13B/ASPP1 or TP53BP2/ASPP2 (PubMed:12524540). However, this activity is inhibited when the interaction with PPP1R13B/ASPP1 or TP53BP2/ASPP2 is displaced by PPP1R13L/iASPP (PubMed:12524540). In cooperation with mitochondrial PPIF is involved in activating oxidative stress-induced necrosis; the function is largely independent of transcription. Induces the transcription of long intergenic non-coding RNA p21 (lincRNA-p21) and lincRNA-Mkln1. LincRNA-p21 participates in TP53-dependent transcriptional repression leading to apoptosis and seems to have an effect on cell-cycle regulation. Implicated in Notch signaling cross-over. Prevents CDK7 kinase activity when associated to CAK complex in response to DNA damage, thus stopping cell cycle progression. Isoform 2 enhances the transactivation activity of isoform 1 from some but not all TP53-inducible promoters. Isoform 4 suppresses transactivation activity and impairs growth suppression mediated by isoform 1. Isoform 7 inhibits isoform 1-mediated apoptosis. Regulates the circadian clock by repressing CLOCK-BMAL1-mediated transcriptional activation of PER2 (PubMed:24051492).", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637#function" }, { "database": "PubMed", "id": "22726440", "url": "https://glygen.org/publication/PubMed/22726440" }, { "database": "PubMed", "id": "20673990", "url": "https://glygen.org/publication/PubMed/20673990" }, { "database": "PubMed", "id": "17349958", "url": "https://glygen.org/publication/PubMed/17349958" }, { "database": "PubMed", "id": "24051492", "url": "https://glygen.org/publication/PubMed/24051492" }, { "database": "PubMed", "id": "19556538", "url": "https://glygen.org/publication/PubMed/19556538" }, { "database": "PubMed", "id": "11025664", "url": "https://glygen.org/publication/PubMed/11025664" }, { "database": "PubMed", "id": "9840937", "url": "https://glygen.org/publication/PubMed/9840937" }, { "database": "PubMed", "id": "15186775", "url": "https://glygen.org/publication/PubMed/15186775" }, { "database": "PubMed", "id": "17317671", "url": "https://glygen.org/publication/PubMed/17317671" }, { "database": "PubMed", "id": "20959462", "url": "https://glygen.org/publication/PubMed/20959462" }, { "database": "PubMed", "id": "15340061", "url": "https://glygen.org/publication/PubMed/15340061" }, { "database": "PubMed", "id": "12524540", "url": "https://glygen.org/publication/PubMed/12524540" }, { "database": "PubMed", "id": "12810724", "url": "https://glygen.org/publication/PubMed/12810724" }, { "database": "PubMed", "id": "24652652", "url": "https://glygen.org/publication/PubMed/24652652" }, { "database": "PubMed", "id": "17189187", "url": "https://glygen.org/publication/PubMed/17189187" }, { "database": "PubMed", "id": "38653238", "url": "https://glygen.org/publication/PubMed/38653238" }, { "database": "PubMed", "id": "35618207", "url": "https://glygen.org/publication/PubMed/35618207" }, { "database": "PubMed", "id": "36634798", "url": "https://glygen.org/publication/PubMed/36634798" }, { "database": "UniProtKB", "id": "A0A087WT22", "url": "https://www.uniprot.org/uniprotkb/A0A087WT22#function" }, { "database": "UniProtKB", "id": "RU003304", "url": "https://www.uniprot.org/uniprotkb/RU003304#function" }, { "database": "UniProtKB", "id": "A0A087WXZ1", "url": "https://www.uniprot.org/uniprotkb/A0A087WXZ1#function" }, { "database": "UniProtKB", "id": "S4R334", "url": "https://www.uniprot.org/uniprotkb/S4R334#function" }, { "database": "UniProtKB", "id": "A0AAQ5BHY1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHY1#function" }, { "database": "UniProtKB", "id": "A0AAQ5BHZ9", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHZ9#function" }, { "database": "UniProtKB", "id": "A0AAQ5BHX5", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHX5#function" }, { "database": "UniProtKB", "id": "E7ESS1", "url": "https://www.uniprot.org/uniprotkb/E7ESS1#function" }, { "database": "UniProtKB", "id": "E9PFT5", "url": "https://www.uniprot.org/uniprotkb/E9PFT5#function" }, { "database": "UniProtKB", "id": "E7EQX7", "url": "https://www.uniprot.org/uniprotkb/E7EQX7#function" }, { "database": "UniProtKB", "id": "J3KP33", "url": "https://www.uniprot.org/uniprotkb/J3KP33#function" }, { "database": "UniProtKB", "id": "I3L0W9", "url": "https://www.uniprot.org/uniprotkb/I3L0W9#function" }, { "database": "UniProtKB", "id": "A0A0U1RQC9", "url": "https://www.uniprot.org/uniprotkb/A0A0U1RQC9#function" }, { "database": "UniProtKB", "id": "A0A087X1Q1", "url": "https://www.uniprot.org/uniprotkb/A0A087X1Q1#function" } ] }, { "annotation": "P53 isoforms can regulate p53 transcriptional activity.", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "16131611", "url": "https://glygen.org/publication/PubMed/16131611" } ] }, { "annotation": "Recommendations and guidelines for reporting and annotating TP53 variants are also provided, to help researchers generate standardized data that are easy to understand, analyze, and exchange across various cancer variant databases Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "24753184", "url": "https://glygen.org/publication/PubMed/24753184" } ] }, { "annotation": "TP53 missense mutant alleles that occur in human cancers are discussed in the context of high resolution models of these p53 mutant protein structures to determine the structural features of mutations (review). Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "29099487", "url": "https://glygen.org/publication/PubMed/29099487" } ] }, { "annotation": "The p53 protein encoded by the 770delT allele is as abundant as the wild-type protein, as removal of the C-terminal p53 domain leads to a stabilized mutant protein, whose abundance is markedly increased when NMD is inhibited.", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "17694537", "url": "https://glygen.org/publication/PubMed/17694537" } ] }, { "annotation": "Therapeutic Editing of the TP53 Gene: Is CRISPR/Cas9 an Option? Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" }, { "database": "PubMed", "id": "32630614", "url": "https://glygen.org/publication/PubMed/32630614" } ] }, { "annotation": "This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_000537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000537" } ] } ], "disease": [ { "disease_id": "DOID:0001816", "recommended_name": { "id": "DOID:0001816", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0001816", "name": "angiosarcoma", "description": "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels." }, "synonyms": [ { "id": "DOID:0001816", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0001816", "name": "hemangiosarcoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0001816", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0001816" } ] }, { "disease_id": "DOID:0002116", "recommended_name": { "id": "DOID:0002116", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0002116", "name": "pterygium", "description": "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation." }, "synonyms": [ { "id": "DOID:0002116", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0002116", "name": "surfer's eye", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0002116", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0002116" } ] }, { "disease_id": "DOID:0050745", "recommended_name": { "id": "DOID:0050745", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern." }, "synonyms": [ { "id": "DOID:0050745", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050745", "name": "DLBCL", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ] }, { "disease_id": "DOID:0050834", "recommended_name": { "id": "DOID:0050834", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050834", "name": "CHARGE syndrome", "description": "A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina." }, "synonyms": [ { "id": "DOID:0050834", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050834", "name": "CHARGE association", "description": "" }, { "id": "MONDO:1010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:1010178", "name": "CHD7-related CHARGE syndrome", "description": "A CHARGE syndrome in which the cause of the disease is a variation in the CHD7 gene." }, { "id": "MONDO:1010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:1010178", "name": "CHARGE syndrome due to CHD7 deficiency", "description": "" }, { "id": "MONDO:1010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:1010178", "name": "CHD7-related CHARGE syndrome", "description": "" }, { "id": "MIM:214800", "resource": "MIM", "url": "https://www.omim.org/entry/214800", "name": "CHARGE syndrome", "description": "CHARGE syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050834", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050834" } ] }, { "disease_id": "DOID:0050861", "recommended_name": { "id": "DOID:0050861", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ] }, { "disease_id": "DOID:0050865", "recommended_name": { "id": "DOID:0050865", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ] }, { "disease_id": "DOID:0050866", "recommended_name": { "id": "DOID:0050866", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells." }, "synonyms": [ { "id": "DOID:0050866", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050866", "name": "mouth squamous cell carcinoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ] }, { "disease_id": "DOID:0050902", "recommended_name": { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor." }, "synonyms": [ { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "name": "CNS PNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "name": "CPNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "name": "brain medulloblastoma", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "name": "infratentorial primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "name": "localized primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050902", "name": "Medulloblastoma, histologically defined", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "cerebellum embryonal neoplasm", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, malignant", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, somatic", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastomas", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "CPNET", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "MDB", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "infratentorial primitive neuroectodermal tumour", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "localised primitive neuroectodermal tumour", "description": "" }, { "id": "MIM:155255", "resource": "MIM", "url": "https://www.omim.org/entry/155255", "name": "Medulloblastoma", "description": "Medulloblastoma" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" }, { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" }, { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" }, { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" }, { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" }, { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ] }, { "disease_id": "DOID:0050908", "recommended_name": { "id": "DOID:0050908", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets." }, "synonyms": [ { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome", "description": "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "MDS", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "MDS, unclassifiable", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "MDS-U", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "Myelodysplastic Syndromes", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "dysmyelopoietic syndrome", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "hematopoeitic - myelodysplastic syndrome (MDS)", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplasia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic neoplasm", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome, somatic", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome, unclassifiable", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome/neoplasm", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndromes", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "oligoblastic leukaemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "oligoblastic leukemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "preleukemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "smoldering leukemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "smouldering leukaemia", "description": "" }, { "id": "MIM:614286", "resource": "MIM", "url": "https://www.omim.org/entry/614286", "name": "Myelodysplastic syndrome", "description": "Myelodysplastic syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "disease_id": "DOID:0060071", "recommended_name": { "id": "DOID:0060071", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer." }, "synonyms": [], "unlinked_id_list": [ "DOID:9108" ], "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ] }, { "disease_id": "DOID:0060074", "recommended_name": { "id": "DOID:0060074", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ] }, { "disease_id": "DOID:0080199", "recommended_name": { "id": "DOID:0080199", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "disease_id": "DOID:0080202", "recommended_name": { "id": "DOID:0080202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080202", "name": "adenoid cystic carcinoma", "description": "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "disease_id": "DOID:0080630", "recommended_name": { "id": "DOID:0080630", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:0080630", "name": "B lymphoblastic leukemia/lymphoma", "description": "" }, { "id": "DOID:0080630", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080630", "name": "B-ALL", "description": "" }, { "id": "DOID:0080630", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080630", "name": "precursor B lymphoblastic lymphoma/leukemia", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ] }, { "disease_id": "DOID:0081267", "recommended_name": { "id": "DOID:0081267", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32." }, "synonyms": [ { "id": "DOID:0081267", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081267", "name": "GvHD", "description": "" }, { "id": "DOID:0081267", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081267", "name": "graft versus host disease", "description": "" }, { "id": "MONDO:0100048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100048", "name": "graft-versus-host disease, susceptibility to", "description": "An inherited susceptibility or predisposition to developing graft vs. host disease." }, { "id": "MONDO:0100048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100048", "name": "GVHDS", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ] }, { "disease_id": "DOID:0081292", "recommended_name": { "id": "DOID:0081292", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ] }, { "disease_id": "DOID:0081312", "recommended_name": { "id": "DOID:0081312", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081312", "name": "T-cell non-Hodgkin lymphoma", "description": "A non-Hodgkin lymphoma of T-cell lineage." }, "synonyms": [], "unlinked_id_list": [ "DOID:0050743" ], "evidence": [ { "id": "0081312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081312" } ] }, { "disease_id": "DOID:0111503", "recommended_name": { "id": "DOID:0111503", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111503", "name": "Li-Fraumeni syndrome 1", "description": "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1." }, "synonyms": [ { "id": "DOID:0111503", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111503", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53-related Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53-related Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MIM:151623", "resource": "MIM", "url": "https://www.omim.org/entry/151623", "name": "Li-Fraumeni syndrome", "description": "Li-Fraumeni syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "151623", "database": "MIM", "url": "https://www.omim.org/entry/151623" }, { "id": "0111503", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111503" } ] }, { "disease_id": "DOID:0112182", "recommended_name": { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "mismatch repair cancer syndrome", "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively." }, "synonyms": [ { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "BTP1 syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "BTPS1", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "CMMR-D syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "CMMRDS", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "MMR deficiency", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "Turcot syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "brain tumor-polyposis syndrome 1", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "childhood cancer syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "constitutional mismatch repair deficiency syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "mismatch repair cancer syndrome 1", "description": "An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis." }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "BTP1 syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "MLH1-related constitutional mismatch repair deficiency syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "MMRCS1", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "Turcot Syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "brain tumor-polyposis syndrome 1", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "mismatch repair cancer syndrome 1", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "CNS tumors with familial polyposis of the colon", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "CNS tumours with familial polyposis of the colon", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "MMRCS", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "brain tumor-polyposis syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "glioma-polyposis syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "malignant tumors of the central nervous system associated with familial polyposis of the colon", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "malignant tumours of the central nervous system associated with familial polyposis of the colon", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "mismatch repair cancer syndrome", "description": "" }, { "id": "MIM:276300", "resource": "MIM", "url": "https://www.omim.org/entry/276300", "name": "Mismatch repair cancer syndrome 1", "description": "Mismatch repair cancer syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0112182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112182" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1035", "recommended_name": { "id": "DOID:1035", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1035", "name": "aggressive NK-cell leukemia", "description": "A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen." }, "synonyms": [ { "id": "DOID:1035", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1035", "name": "aggressive NK-cell leukaemia", "description": "" }, { "id": "DOID:1035", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1035", "name": "large granular Lymphocyte Leukemia, NK-cell type", "description": "" }, { "id": "DOID:1035", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1035", "name": "natural killer cell leukaemia", "description": "" }, { "id": "DOID:1035", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1035", "name": "natural killer cell leukemia", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "1035", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1035" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1070", "recommended_name": { "id": "DOID:1070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure." }, "synonyms": [ { "id": "DOID:1070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1070", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0100553", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100553", "name": "OPTN-related open angle glaucoma", "description": "Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene." }, { "id": "MONDO:0100553", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100553", "name": "OPTN-related open angle glaucoma", "description": "" }, { "id": "MONDO:0100553", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100553", "name": "glaucoma 1, open angle, E", "description": "" }, { "id": "MIM:137760", "resource": "MIM", "url": "https://www.omim.org/entry/137760", "name": "Glaucoma, primary open angle", "description": "Glaucoma, primary open angle" } ], "unlinked_id_list": [], "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ] }, { "disease_id": "DOID:10811", "recommended_name": { "id": "DOID:10811", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10811", "name": "nasal cavity cancer", "description": "A respiratory system cancer that is located_in the nasal cavity." }, "synonyms": [ { "id": "DOID:10811", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10811", "name": "malignant neoplasm of nasal cavities", "description": "" }, { "id": "DOID:10811", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10811", "name": "malignant tumor of the nasal cavity", "description": "" } ], "unlinked_id_list": [ "DOID:4931" ], "evidence": [ { "id": "10811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10811" } ] }, { "disease_id": "DOID:10964", "recommended_name": { "id": "DOID:10964", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10964", "name": "cholesteatoma of middle ear", "description": "" }, "synonyms": [ { "id": "DOID:10964", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10964", "name": "Cholesteatoma of middle ear and mastoid", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10964", "name": "Cholesteatoma of middle ear and/or mastoid", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10964", "name": "Cholesteatoma of the middle ear", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10964", "name": "Epidermosis of ear", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10964", "name": "Epidermosis of middle ear", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10964", "name": "middle ear cholesteatoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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 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"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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ], "unlinked_id_list": [ "DOID:3095", "DOID:0080639" ], "evidence": [ { "id": "1115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1115" } ] }, { "disease_id": "DOID:11650", "recommended_name": { "id": "DOID:11650", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems." }, "synonyms": [ { "id": "DOID:11650", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11650", "name": "Perinatal bronchopulmonary dysplasia", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11650", "name": "neonatal chronic respiratory disease", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11650", "name": "Bronchopulmonary dysplasia of newborn", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11650", "name": "Chronic lung disease of prematurity", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11650", "name": "Neonatal chronic lung disease", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11650", "name": "Respiratory insufficiency", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ] }, { "disease_id": "DOID:12361", "recommended_name": { "id": "DOID:12361", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland." }, "synonyms": [ { "id": "DOID:12361", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12361", "name": "Grave's disease", "description": "" }, { "id": "DOID:12361", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12361", "name": "Graves disease", "description": "" }, { "id": "DOID:12361", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12361", "name": "exophthalmic goiter", "description": "" }, { "id": "MONDO:0100489", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100489", "name": "Graves disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0100489", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100489", "name": "Graves disease, susceptibility to, 1", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ] }, { "disease_id": "DOID:1240", "recommended_name": { "id": "DOID:1240", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells." }, "synonyms": [], "unlinked_id_list": [ "DOID:5604", "DOID:1039", "DOID:0080638", "DOID:7757", "DOID:8527", "DOID:1036" ], "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": 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"https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": 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"https://disease-ontology.org/term/DOID:1749", "name": "squamous carcinoma", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1749", "name": "squamous cell Epithelioma", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1749", "name": "squamous cell cancer", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1749", "name": "SCC", "description": "" } ], "unlinked_id_list": [ "DOID:3149" ], "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1909", "recommended_name": { "id": "DOID:1909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye." }, "synonyms": [ { "id": "DOID:1909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1909", "name": "Naevocarcinoma", "description": "" }, { "id": "DOID:1909", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1909", "name": "malignant melanoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ] }, { "disease_id": "DOID:2513", "recommended_name": { "id": "DOID:2513", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells." }, "synonyms": [ { "id": "DOID:2513", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2513", "name": "Basal cell cancer", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2513", "name": "Basal cell carcinoma 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"id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], 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the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure." }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "choroid plexus papilloma", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "choroid plexus papilloma, no ICD-O subtype", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "papilloma of the choroid plexus", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "childhood choroid plexus papilloma", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "childhood papilloma of choroid plexus", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "choroid plexus papilloma NOS (morphologic abnormality)", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "paediatric papilloma of choroid plexus", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "pediatric papilloma of choroid plexus", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "CPP", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "papilloma of choroid plexus", "description": "" }, { "id": "MIM:260500", "resource": "MIM", "url": "https://www.omim.org/entry/260500", "name": "Papilloma of choroid plexus", "description": "Papilloma of choroid plexus" } ], "unlinked_id_list": [], "evidence": [ { "id": "260500", "database": "MIM", "url": "https://www.omim.org/entry/260500" }, { "id": "2626", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2626" } ] }, { "disease_id": "DOID:2671", "recommended_name": { "id": "DOID:2671", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells." }, "synonyms": [ { "id": "DOID:2671", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2671", "name": "transitional carcinoma", "description": "" }, { "id": "DOID:2671", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2671", "name": "transitional cell tumor", "description": "" }, { "id": "DOID:2671", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2671", "name": "urothelial cell carcinoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ] }, { "disease_id": "DOID:2729", "recommended_name": { "id": "DOID:2729", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2729", "name": "dyskeratosis congenita", "description": "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer." }, "synonyms": [ { "id": "DOID:2729", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2729", "name": "DKCD", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "dyskeratosis congenita, autosomal dominant 1", "description": "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2." }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "DKCA1", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "dyskeratosis congenita, Scoggins type", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "dyskeratosis congenita, autosomal dominant 1", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "dyskeratosis congenita, autosomal dominant type 1", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "DKCA", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "autosomal dominant dyskeratosis congenita", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "dyskeratosis congenita Scoggins type", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "dyskeratosis congenita autosomal dominant", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "2729", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2729" } ] }, { "disease_id": "DOID:2870", "recommended_name": { "id": "DOID:2870", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:2870", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2870", "name": "endometrial endometrioid adenocarcinoma with squamous differentiation", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2870", "name": "adenocarcinoma of endometrium", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2870", "name": "adenocarcinoma of the Endometrium", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2870", "name": "adenocarcinoma of uterus", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2870", "name": "endometrial adenoacanthoma", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2870", "name": "endometrial endometrioid adenocarcinoma", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2870", "name": "endometrioid adenoma or carcinoma", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2870", "name": "endometrioid adenomas and carcinomas", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2870", "name": "endometrioid carcinoma of Endometrium", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ] }, { "disease_id": "DOID:2871", "recommended_name": { "id": "DOID:2871", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus." }, "synonyms": [ { "id": "DOID:2871", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2871", "name": "endometrioid carcinoma of female Reproductive system", "description": "" }, { "id": "DOID:2871", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2871", "name": "carcinoma of the Endometrium", "description": "" }, { "id": "DOID:2871", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2871", "name": "endometrioid carcinoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ] }, { "disease_id": "DOID:2998", "recommended_name": { "id": "DOID:2998", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2998", "name": "testicular cancer", "description": "A male reproductive system cancer that is located_in the testicles." }, "synonyms": [ { "id": "DOID:2998", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2998", "name": "childhood neoplasm of the testis", "description": "" }, { "id": "DOID:2998", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2998", "name": "neoplasm of testis", "description": "" }, { "id": "DOID:2998", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2998", "name": "pediatric testicular neoplasm", "description": "" }, { "id": "DOID:2998", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2998", "name": "testicular tumor", "description": "" }, { "id": "DOID:2998", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2998", "name": "testis cancer", "description": "" }, { "id": "DOID:2998", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2998", "name": "testis neoplasm", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "2998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2998" } ] }, { "disease_id": "DOID:3012", "recommended_name": { "id": "DOID:3012", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3012", "name": "Li-Fraumeni syndrome", "description": "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata." }, "synonyms": [ { "id": "DOID:3012", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3012", "name": "SBLA syndrome", "description": "" }, { "id": "DOID:3012", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3012", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "DOID:3012", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3012", "name": "Li-Fraumeni Familiar cancer Susceptibility syndrome", "description": "" }, { "id": "DOID:3012", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3012", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53-related Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53-related Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MIM:151623", "resource": "MIM", "url": "https://www.omim.org/entry/151623", "name": "Li-Fraumeni syndrome", "description": "Li-Fraumeni syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "151623", "database": "MIM", "url": "https://www.omim.org/entry/151623" }, { "id": "3012", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3012" } ] }, { "disease_id": "DOID:3068", "recommended_name": { "id": "DOID:3068", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3068", "name": "GBM", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3068", "name": "adult glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3068", "name": "grade IV adult Astrocytic tumor", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3068", "name": "primary glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3068", "name": "spongioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3068", "name": "glioblastoma multiforme", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ] }, { "disease_id": "DOID:3070", "recommended_name": { "id": "DOID:3070", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3070", "name": "Neuroglial tumor", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3070", "name": "glial cell tumor", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3070", "name": "glioma, malignant", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3070", "name": "malignant Neuroglial tumor", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3070", "name": "malignant glioma", "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": "MIM:137800", "resource": "MIM", "url": "https://www.omim.org/entry/137800", "name": "Glioma 1", "description": "Glioma 1" } ], "unlinked_id_list": [ "DOID:0080879" ], "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ] }, { "disease_id": "DOID:3114", "recommended_name": { "id": "DOID:3114", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3114", "name": "serous cystadenocarcinoma", "description": "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions." }, "synonyms": [ { "id": "DOID:3114", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3114", "name": "serous adenocarcinoma", "description": "" }, { "id": "DOID:3114", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3114", "name": "serous carcinoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3114" } ] }, { "disease_id": "DOID:326", "recommended_name": { "id": "DOID:326", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ] }, { "disease_id": "DOID:3347", "recommended_name": { "id": "DOID:3347", "resource": "Disease Ontology", "url": "https://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. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus)." }, "synonyms": [ { "id": "DOID:3347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3347", "name": "Osteogenic sarcoma", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3347", "name": "Skeletal sarcoma", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3347", "name": "bone tissue neoplasm", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "https://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": "MIM:259500", "resource": "MIM", "url": "https://www.omim.org/entry/259500", "name": "Osteogenic sarcoma", "description": "Osteogenic sarcoma" } ], "unlinked_id_list": [], "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ] }, { "disease_id": "DOID:3393", "recommended_name": { "id": "DOID:3393", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles." }, "synonyms": [ { "id": "DOID:3393", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3393", "name": "CHD", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3393", "name": "Coronary disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3393", "name": "coronary arteriosclerosis", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3393", "name": "coronary heart disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3393", "name": "Ischemic Heart Disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3393", "name": "myocardial ischemia", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "CX3CR1 coronary artery disease", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease caused by mutation in CX3CR1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease, resistance to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "MEF2A coronary artery disease", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease caused by mutation in MEF2A", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, type 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "ADCAD1", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "LRP6 coronary artery disease", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease caused by mutation in LRP6", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant type 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant, 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "ADCAD2", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "CHDS8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "CHDS9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "KHDC3L complete hydatidiform mole", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "complete hydatidiform mole caused by mutation in KHDC3L", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, recurrent, type 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "HYDM2", "description": "" }, { "id": "MIM:608320", "resource": "MIM", "url": "https://www.omim.org/entry/608320", "name": "Coronary artery disease, autosomal dominant, 1", "description": "Coronary artery disease, autosomal dominant, 1" }, { "id": "MIM:610947", "resource": "MIM", "url": "https://www.omim.org/entry/610947", "name": "Coronary artery disease, autosomal dominant, 2", "description": "Coronary artery disease, autosomal dominant, 2" }, { "id": "MIM:614293", "resource": "MIM", "url": "https://www.omim.org/entry/614293", "name": "Hydatidiform mole, recurrent, 2", "description": "Hydatidiform mole, recurrent, 2" } ], "unlinked_id_list": [ "DOID:11840" ], "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ] }, { "disease_id": "DOID:3702", "recommended_name": { "id": "DOID:3702", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3702", "name": "cervical adenocarcinoma", "description": "A cervix carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3702", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3702", "name": "adenocarcinoma cervix uteri", "description": "" }, { "id": "DOID:3702", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3702", "name": "adenocarcinoma of cervix", "description": "" }, { "id": "DOID:3702", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3702", "name": "adenocarcinoma of the uterine Cervix", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3702", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3702" } ] }, { "disease_id": "DOID:3717", "recommended_name": { "id": "DOID:3717", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3717", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3717", "name": "adenocarcinoma of stomach", "description": "" }, { "id": "DOID:3717", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3717", "name": "stomach adenocarcinoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ] }, { "disease_id": "DOID:3744", "recommended_name": { "id": "DOID:3744", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix." }, "synonyms": [ { "id": "DOID:3744", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3744", "name": "squamous cell carcinoma of cervix", "description": "" }, { "id": "DOID:3744", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3744", "name": "squamous cell carcinoma of the Cervix Uteri", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3744" } ] }, { "disease_id": "DOID:3748", "recommended_name": { "id": "DOID:3748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus." }, "synonyms": [ { "id": "DOID:3748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3748", "name": "SCC of esophagus", "description": "" }, { "id": "DOID:3748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3748", "name": "SCC of oesophagus", "description": "" }, { "id": "DOID:3748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3748", "name": "oesophagus squamous cell carcinoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ] }, { "disease_id": "DOID:3908", "recommended_name": { "id": "DOID:3908", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3908", "name": "NSCLC", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3908", "name": "Non-small cell lung cancer", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3908", "name": "non-small cell lung carcinoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ] }, { "disease_id": "DOID:3948", "recommended_name": { "id": "DOID:3948", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3948", "name": "adrenocortical carcinoma", "description": "An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." }, "synonyms": [ { "id": "DOID:3948", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3948", "name": "Adrenal cortical carcinoma", "description": "" }, { "id": "DOID:3948", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3948", "name": "carcinoma of the Adrenal cortex", "description": "" }, { "id": "MONDO:0008734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008734", "name": "adrenocortical carcinoma, hereditary", "description": "An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome." }, { "id": "MONDO:0008734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008734", "name": "adrenocortical carcinoma, hereditary", "description": "" }, { "id": "MONDO:0008734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008734", "name": "hereditary adrenal cortex carcinoma", "description": "" }, { "id": "MONDO:0008734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008734", "name": "ADCC", "description": "" }, { "id": "MONDO:0008734", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008734", "name": "adrenocortical carcinoma, paediatric", "description": "" }, { "id": "MIM:202300", "resource": "MIM", "url": "https://www.omim.org/entry/202300", "name": "Adrenocortical carcinoma", "description": "Adrenocortical carcinoma" } ], "unlinked_id_list": [], "evidence": [ { "id": "202300", "database": "MIM", "url": "https://www.omim.org/entry/202300" } ] }, { "disease_id": "DOID:3969", "recommended_name": { "id": "DOID:3969", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland." }, "synonyms": [ { "id": "DOID:3969", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3969", "name": "Papillary carcinoma of the Thyroid gland", "description": "" }, { "id": "DOID:3969", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3969", "name": "thyroid gland papillary carcinoma", "description": "" }, { "id": "DOID:3969", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3969", "name": "Papillary carcinoma of thyroid", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "thyroid cancer, nonmedullary, 1", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "thyroid cancer, nonmedullary, 1", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "thyroid cancer, nonmedullary, type 1", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "NMTC1", "description": "" }, { "id": "MIM:188550", "resource": "MIM", "url": "https://www.omim.org/entry/188550", "name": "Thyroid cancer, non-medullary, 1", "description": "Thyroid cancer, non-medullary, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ] }, { "disease_id": "DOID:4247", "recommended_name": { "id": "DOID:4247", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4247", "name": "coronary restenosis", "description": "" }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ] }, { "disease_id": "DOID:4450", "recommended_name": { "id": "DOID:4450", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney." }, "synonyms": [ { "id": "DOID:4450", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4450", "name": "RCC", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4450", "name": "adenocarcinoma of kidney", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4450", "name": "hypernephroma", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, papillary, 1", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "RCCX1", "description": "" }, { "id": "MIM:300854", "resource": "MIM", "url": "https://www.omim.org/entry/300854", "name": "Renal cell carcinoma Xp11-associated", "description": "Renal cell carcinoma Xp11-associated" } ], "unlinked_id_list": [ "DOID:4455" ], "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ] }, { "disease_id": "DOID:4467", "recommended_name": { "id": "DOID:4467", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope." }, "synonyms": [ { "id": "DOID:4467", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4467", "name": "Clear cell carcinoma of kidney", "description": "" }, { "id": "DOID:4467", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4467", "name": "clear cell kidney carcinoma", "description": "" }, { "id": "DOID:4467", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4467", "name": "conventional (Clear cell) renal cell carcinoma", "description": "" }, { "id": "DOID:4467", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4467", "name": "conventional renal cell carcinoma", "description": "" }, { "id": "DOID:4467", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4467", "name": "renal clear cell carcinoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ] }, { "disease_id": "DOID:4926", "recommended_name": { "id": "DOID:4926", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension." }, "synonyms": [ { "id": "DOID:4926", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4926", "name": "Bronchioalveolar lung carcinoma", "description": "" }, { "id": "DOID:4926", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4926", "name": "Bronchioloalveolar carcinoma", "description": "" }, { "id": "DOID:4926", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4926", "name": "Minimally Invasive Lung Adenocarcinoma", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "4926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ] }, { "disease_id": "DOID:4971", "recommended_name": { "id": "DOID:4971", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue." }, "synonyms": [ { "id": "DOID:4971", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4971", "name": "Agnogenic myeloid metaplasia", "description": "" }, { "id": "DOID:4971", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4971", "name": "Aleukemic myelosis", "description": "" }, { "id": "DOID:4971", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4971", "name": "Megakaryocytic myelosclerosis", "description": "" }, { "id": "DOID:4971", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4971", "name": "bone Marrow Fibrosis", "description": "" }, { "id": "DOID:4971", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4971", "name": "myelosclerosis", "description": "" }, { "id": "DOID:4971", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4971", "name": "primary myelofibrosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "primary myelofibrosis", "description": "Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension." }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "AMM", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "Agnogenic myeloid metaplasia", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "CIMF", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "chronic idiopathic myelofibrosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "idiopathic bone marrow fibrosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "idiopathic myelofibrosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "myelofibrosis with myeloid metaplasia, somatic", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "myelofibrosis, somatic", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "myelosclerosis with myeloid metaplasia", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "osteomyelofibrosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "primary myelofibrosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "myelofibrosis with myeloid metaplasia", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "myeloid metaplasia", "description": "" }, { "id": "MIM:254450", "resource": "MIM", "url": "https://www.omim.org/entry/254450", "name": "Myelofibrosis with myeloid metaplasia", "description": "Myelofibrosis with myeloid metaplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:5520", "recommended_name": { "id": "DOID:5520", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck." }, "synonyms": [ { "id": "DOID:5520", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5520", "name": "carcinoma of the head and neck", "description": "" }, { "id": "DOID:5520", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5520", "name": "squamous cell carcinoma of the head and neck", "description": "" }, { "id": "DOID:5520", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5520", "name": "squamous cell carcinomas of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "head and neck squamous cell carcinoma", "description": "A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "HNSCC", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "SCCHN", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "craniocervical region squamous cell carcinoma", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "head and neck squamous cell carcinoma", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma of the head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma, head and neck, somatic", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "carcinoma of the head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma, head and neck", "description": "" }, { "id": "MIM:275355", "resource": "MIM", "url": "https://www.omim.org/entry/275355", "name": "Squamous cell carcinoma of the head and neck", "description": "Squamous cell carcinoma of the head and neck" } ], "unlinked_id_list": [], "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" }, { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" }, { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ] }, { "disease_id": "DOID:5744", "recommended_name": { "id": "DOID:5744", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5744", "name": "ovary serous adenocarcinoma", "description": "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity)." }, "synonyms": [ { "id": "DOID:5744", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5744", "name": "malignant ovarian serous tumor", "description": "" }, { "id": "DOID:5744", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5744", "name": "serous carcinoma of Ovary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "5744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5744" } ] }, { "disease_id": "DOID:5773", "recommended_name": { "id": "DOID:5773", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues." }, "synonyms": [ { "id": "DOID:5773", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5773", "name": "Oral cavity Submucous Fibrosis", "description": "" }, { "id": "DOID:5773", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5773", "name": "Oral submucosal fibrosis", "description": "" }, { "id": "DOID:5773", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5773", "name": "Oral submucosal fibrosis, including of tongue", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ] }, { "disease_id": "DOID:5940", "recommended_name": { "id": "DOID:5940", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5940", "name": "malignant peripheral nerve sheath tumor", "description": "" }, "synonyms": [ { "id": "DOID:5940", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5940", "name": "malignant neoplasm of the peripheral nerve Sheath", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "5940", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5940" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "unlinked_id_list": [], "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "disease_id": "DOID:705", "recommended_name": { "id": "DOID:705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:705", "name": "Leber hereditary optic neuropathy", "description": "" }, "synonyms": [ { "id": "DOID:705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:705", "name": "Leber's hereditary optic neuropathy", "description": "" }, { "id": "DOID:705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:705", "name": "Leber's optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber hereditary optic neuropathy", "description": "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "LHON", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber Hereditary optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber hereditary optic neuropathy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Lebers disease", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "optic atrophy, Leber type", "description": "" }, { "id": "MIM:535000", "resource": "MIM", "url": "https://www.omim.org/entry/535000", "name": "Leber hereditary optic neuropathy", "description": "Leber hereditary optic neuropathy" } ], "unlinked_id_list": [], "evidence": [ { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" }, { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" }, { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" }, { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" } ] }, { "disease_id": "DOID:7575", "recommended_name": { "id": "DOID:7575", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:7575", "name": "pancreatic intraductal papillary-mucinous neoplasm", "description": "A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "7575", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7575" } ] }, { "disease_id": "DOID:7614", "recommended_name": { "id": "DOID:7614", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:7614", "name": "meninges sarcoma", "description": "" }, "synonyms": [ { "id": "DOID:7614", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:7614", "name": "Meningeal sarcoma", "description": "" }, { "id": "DOID:7614", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:7614", "name": "sarcoma of meninges", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "7614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7614" } ] }, { "disease_id": "DOID:8725", "recommended_name": { "id": "DOID:8725", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain." }, "synonyms": [ { "id": "DOID:8725", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8725", "name": "Multi Infarct Dementia", "description": "" }, { "id": "DOID:8725", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:8725", "name": "multifocal dementia", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ] }, { "disease_id": "DOID:9119", "recommended_name": { "id": "DOID:9119", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells." }, "synonyms": [ { "id": "DOID:9119", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9119", "name": "AML - acute Myeloid Leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9119", "name": "Leukemia, Myelocytic, acute", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9119", "name": "acute myeloblastic leukaemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9119", "name": "acute myeloblastic leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9119", "name": "acute myelogenous leukaemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9119", "name": "acute myelogenous leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9119", "name": "acute myeloid leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia", "description": "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML - acute myeloid leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML - acute myeloid leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "ANLL", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute Nonlymphocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute Nonlymphocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute granulocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute granulocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloblastic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelogenous leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelogenous leukemias", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukaemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute nonlymphocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute nonlymphocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "hematopoeitic - 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:9261", "recommended_name": { "id": "DOID:9261", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract." }, "synonyms": [ { "id": "DOID:9261", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9261", "name": "Nasopharyngeal carcinoma", "description": "" }, { "id": "DOID:9261", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9261", "name": "malignant Nasopharyngeal tumor", "description": "" }, { "id": "DOID:9261", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9261", "name": "malignant neoplasm of nasopharynx", "description": "" }, { "id": "DOID:9261", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9261", "name": "nasopharynx cancer", "description": "" }, { "id": "MONDO:0008067", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008067", "name": "nasopharyngeal carcinoma, susceptibility to, 2", "description": "" }, { "id": "MONDO:0008067", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008067", "name": "nasopharyngeal carcinoma, susceptibility to, 2", "description": "" }, { "id": "MONDO:0008067", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008067", "name": "nasopharyngeal carcinoma, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0008067", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008067", "name": "NPCA2", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "nasopharyngeal carcinoma, susceptibility to, 1", "description": "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene." }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "TP53 nasopharyngeal carcinoma", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "nasopharyngeal carcinoma 1", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "nasopharyngeal carcinoma caused by mutation in TP53", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "nasopharyngeal carcinoma, somatic", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "nasopharyngeal carcinoma, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "NPC", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow." }, "synonyms": [ { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler's disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Multiple Myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "medullary plasmacytoma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, resistance to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, susceptibility to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma/plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloid neoplasm of plasma cell", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, multiple", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, plasma cell, malignant", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myelomatosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloid neoplasm", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma - multiple", "description": "" }, { "id": "MIM:254500", "resource": "MIM", "url": "https://www.omim.org/entry/254500", "name": "Multiple myeloma", "description": "Multiple myeloma" } ], "unlinked_id_list": [], "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID:9655", "recommended_name": { "id": "DOID:9655", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ] }, { "disease_id": "MONDO:0013876", "recommended_name": { "id": "MONDO:0013876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013876", "name": "basal cell carcinoma, susceptibility to, 7", "description": "Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene." }, "synonyms": [ { "id": "MONDO:0013876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013876", "name": "TP53 skin basal cell carcinoma", "description": "" }, { "id": "MONDO:0013876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013876", "name": "basal cell carcinoma 7", "description": "" }, { "id": "MONDO:0013876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013876", "name": "basal cell carcinoma, susceptibility to, 7", "description": "" }, { "id": "MONDO:0013876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013876", "name": "basal cell carcinoma, susceptibility to, type 7", "description": "" }, { "id": "MONDO:0013876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013876", "name": "skin basal cell carcinoma caused by mutation in TP53", "description": "" }, { "id": "MONDO:0013876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013876", "name": "BCC7", "description": "" }, { "id": "MIM:614740", "resource": "MIM", "url": "https://www.omim.org/entry/614740", "name": "Basal cell carcinoma 7", "description": "Basal cell carcinoma 7" } ], "unlinked_id_list": [], "evidence": [ { "id": "614740", "database": "MIM", "url": "https://www.omim.org/entry/614740" } ] }, { "disease_id": "MONDO:0032573", "recommended_name": { "id": "MONDO:0032573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032573", "name": "bone marrow failure syndrome 5", "description": "" }, "synonyms": [ { "id": "MONDO:0032573", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032573", "name": "BMFS5", "description": "" }, { "id": "MIM:618165", "resource": "MIM", "url": "https://www.omim.org/entry/618165", "name": "Bone marrow failure syndrome 5", "description": "Bone marrow failure syndrome 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "618165", "database": "MIM", "url": "https://www.omim.org/entry/618165" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 15, "end_pos": 15, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of interaction with PPP2R5C, PPP2CAANDPPP2R1A.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "17967874", "url": "https://glygen.org/publication/PubMed/17967874" } ] }, { "start_pos": 183, "end_pos": 183, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes strongly phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "20959462", "url": "https://glygen.org/publication/PubMed/20959462" } ] }, { "start_pos": 183, "end_pos": 183, "sequence_org": "S", "sequence_mut": "E", "comment": "Inhibits slightly its transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "20959462", "url": "https://glygen.org/publication/PubMed/20959462" } ] }, { "start_pos": 18, "end_pos": 18, "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on interaction with MDM2 and increase in protein levels after DNA damage.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "10570149", "url": "https://glygen.org/publication/PubMed/10570149" } ] }, { "start_pos": 20, "end_pos": 20, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation site. Abolishes increase in protein levels after DNA damage.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "10570149", "url": "https://glygen.org/publication/PubMed/10570149" } ] }, { "start_pos": 20, "end_pos": 20, "sequence_org": "S", "sequence_mut": "D", "comment": "Constitutively increased TP53 protein levels.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "10570149", "url": "https://glygen.org/publication/PubMed/10570149" } ] }, { "start_pos": 22, "end_pos": 23, "sequence_org": "LW", "sequence_mut": "QS", "comment": "Loss of interaction with MDM2, leading to constitutively increased TP53 protein levels.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "10570149", "url": "https://glygen.org/publication/PubMed/10570149" } ] }, { "start_pos": 248, "end_pos": 248, "sequence_org": "R", "sequence_mut": "S", "comment": "Does not induce SNAI1 degradation.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "20385133", "url": "https://glygen.org/publication/PubMed/20385133" } ] }, { "start_pos": 24, "end_pos": 24, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes ubiquitination by MUL1.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "21597459", "url": "https://glygen.org/publication/PubMed/21597459" } ] }, { "start_pos": 269, "end_pos": 269, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "20959462", "url": "https://glygen.org/publication/PubMed/20959462" } ] }, { "start_pos": 269, "end_pos": 269, "sequence_org": "S", "sequence_mut": "E", "comment": "Inhibits strongly its transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "20959462", "url": "https://glygen.org/publication/PubMed/20959462" } ] }, { "start_pos": 284, "end_pos": 284, "sequence_org": "T", "sequence_mut": "E", "comment": "Inhibits strongly its transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "20959462", "url": "https://glygen.org/publication/PubMed/20959462" } ] }, { "start_pos": 291, "end_pos": 292, "sequence_org": "KK", "sequence_mut": "RR", "comment": "Abolishes polyubiquitination by MKRN1.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "19536131", "url": "https://glygen.org/publication/PubMed/19536131" } ] }, { "start_pos": 319, "end_pos": 319, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of nuclear localization; when associated with A-320 and A-321.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "2156209", "url": "https://glygen.org/publication/PubMed/2156209" } ] }, { "start_pos": 320, "end_pos": 320, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of nuclear localization; when associated with A-319 and A-321.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "2156209", "url": "https://glygen.org/publication/PubMed/2156209" } ] }, { "start_pos": 321, "end_pos": 321, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of nuclear localization; when associated with A-319 and A-320.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "2156209", "url": "https://glygen.org/publication/PubMed/2156209" } ] }, { "start_pos": 333, "end_pos": 337, "sequence_org": "RGRER", "sequence_mut": "KGKEK", "comment": "Reduced methylation by PRMT5. Reduced nuclear localization. Decreased binding to promoters of target genes. Reduced transcriptional activity. Decrease in cell cycle arrest.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "19011621", "url": "https://glygen.org/publication/PubMed/19011621" } ] }, { "start_pos": 359, "end_pos": 359, "sequence_org": "P", "sequence_mut": "D", "comment": "Abolishes binding to USP7.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "16402859", "url": "https://glygen.org/publication/PubMed/16402859" } ] }, { "start_pos": 361, "end_pos": 361, "sequence_org": "G", "sequence_mut": "E", "comment": "Abolishes binding to USP7.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "16402859", "url": "https://glygen.org/publication/PubMed/16402859" } ] }, { "start_pos": 362, "end_pos": 362, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes binding to USP7.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "16402859", "url": "https://glygen.org/publication/PubMed/16402859" } ] }, { "start_pos": 370, "end_pos": 370, "sequence_org": "K", "sequence_mut": "R", "comment": "Induces a decrease in methylation by SMYD2.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "17108971", "url": "https://glygen.org/publication/PubMed/17108971" } ] }, { "start_pos": 372, "end_pos": 372, "sequence_org": "K", "sequence_mut": "R", "comment": "Induces a decrease in protein stabilization.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "15525938", "url": "https://glygen.org/publication/PubMed/15525938" } ] }, { "start_pos": 373, "end_pos": 373, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes dimethylation by EHMT1 and EHMT2.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "20118233", "url": "https://glygen.org/publication/PubMed/20118233" } ] }, { "start_pos": 37, "end_pos": 37, "sequence_org": "S", "sequence_mut": "D", "comment": "Abolishes phosphorylation by MAPKAPK5.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "17254968", "url": "https://glygen.org/publication/PubMed/17254968" } ] }, { "start_pos": 381, "end_pos": 381, "sequence_org": "K", "sequence_mut": "Q", "comment": "Mimics acetylation, leading to increased stability.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "29474172", "url": "https://glygen.org/publication/PubMed/29474172" } ] }, { "start_pos": 381, "end_pos": 381, "sequence_org": "K", "sequence_mut": "R", "comment": "Decreased acetylation.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "29474172", "url": "https://glygen.org/publication/PubMed/29474172" } ] }, { "start_pos": 382, "end_pos": 382, "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes acetylation by CREBBP.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "10884347", "url": "https://glygen.org/publication/PubMed/10884347" }, { "database": "PubMed", "id": "17707234", "url": "https://glygen.org/publication/PubMed/17707234" }, { "database": "PubMed", "id": "11740489", "url": "https://glygen.org/publication/PubMed/11740489" }, { "database": "PubMed", "id": "20870725", "url": "https://glygen.org/publication/PubMed/20870725" } ] }, { "start_pos": 382, "end_pos": 382, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes monomethylation by KMT5A.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "10884347", "url": "https://glygen.org/publication/PubMed/10884347" }, { "database": "PubMed", "id": "17707234", "url": "https://glygen.org/publication/PubMed/17707234" }, { "database": "PubMed", "id": "11740489", "url": "https://glygen.org/publication/PubMed/11740489" }, { "database": "PubMed", "id": "20870725", "url": "https://glygen.org/publication/PubMed/20870725" } ] }, { "start_pos": 383, "end_pos": 383, "sequence_org": "L", "sequence_mut": "A", "comment": "Abolishes S-315 phosphorylation by CDK2/cyclin A.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "10884347", "url": "https://glygen.org/publication/PubMed/10884347" } ] }, { "start_pos": 385, "end_pos": 385, "sequence_org": "F", "sequence_mut": "A", "comment": "Reduced SUMO1 conjugation.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "10884347", "url": "https://glygen.org/publication/PubMed/10884347" }, { "database": "PubMed", "id": "11124955", "url": "https://glygen.org/publication/PubMed/11124955" } ] }, { "start_pos": 386, "end_pos": 386, "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes SUMO1 conjugation, in vitro and in vivo.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "11124955", "url": "https://glygen.org/publication/PubMed/11124955" } ] }, { "start_pos": 387, "end_pos": 387, "sequence_org": "T", "sequence_mut": "A", "comment": "No effect SUMO1 conjugation.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "11124955", "url": "https://glygen.org/publication/PubMed/11124955" } ] }, { "start_pos": 388, "end_pos": 388, "sequence_org": "E", "sequence_mut": "A", "comment": "Abolishes SUMO1 conjugation.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "11124955", "url": "https://glygen.org/publication/PubMed/11124955" } ] }, { "start_pos": 392, "end_pos": 392, "sequence_org": "S", "sequence_mut": "D", "comment": "Mimics phosphorylation; promotes ability to undergo liquid-liquid phase separation.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "35618207", "url": "https://glygen.org/publication/PubMed/35618207" } ] }, { "start_pos": 392, "end_pos": 392, "sequence_org": "S", "sequence_mut": 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"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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P04637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04637" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P04637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04637" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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 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"https://www.alliancegenome.org/disease/DOID:11054" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P04637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04637" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P04637", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04637" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": 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"https://www.uniprot.org/uniprotkb/P04637-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04637-8", "url": "https://www.uniprot.org/uniprotkb/P04637-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04637-9", "url": "https://www.uniprot.org/uniprotkb/P04637-9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R334", "url": "https://www.uniprot.org/uniprotkb/S4R334", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R334-1", "url": "https://www.uniprot.org/uniprotkb/S4R334-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD", "length": 393, "header": "sp|P04637-1|P53_HUMAN Isoform 1 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "isoforms": [ { "isoform_ac": "A0A087WT22-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WT22/entry", "sequence": { "sequence": "MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS", "length": 187, "header": "tr|A0A087WT22-1|P53_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7675134, "end_pos": 7673222, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000610623.4", "url": "https://www.ensembl.org/id/ENST00000610623.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000477531.1", "url": "https://www.ensembl.org/id/ENSP00000477531.1" } ] } }, { "isoform_ac": "A0A087WXZ1-1", "url": "https://www.uniprot.org/uniprotkb/A0A087WXZ1/entry", "sequence": { "sequence": "MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC", "length": 182, "header": "tr|A0A087WXZ1-1|A0A087WXZ1_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7675134, "end_pos": 7673310, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000618944.4", "url": "https://www.ensembl.org/id/ENST00000618944.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000481401.1", "url": "https://www.ensembl.org/id/ENSP00000481401.1" } ] } }, { "isoform_ac": "A0A087X1Q1-1", "url": "https://www.uniprot.org/uniprotkb/A0A087X1Q1/entry", "sequence": { "sequence": "MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD", "length": 234, "header": "tr|A0A087X1Q1-1|A0A087X1Q1_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7675134, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000619186.4", "url": "https://www.ensembl.org/id/ENST00000619186.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000484375.1", "url": "https://www.ensembl.org/id/ENSP00000484375.1" } ] } }, { "isoform_ac": "A0A0U1RQC9-1", "url": "https://www.uniprot.org/uniprotkb/A0A0U1RQC9/entry", "sequence": { "sequence": "MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSRECQTLSPGDPDPPLSETFNLNICPYPAGKLELLKLSPCPCLCRQVTLMSFLFFFLIFFYFRLYWGIIDPPKLHTFKVCSVMI", "length": 410, "header": "tr|A0A0U1RQC9-1|P53_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676251, "end_pos": 7667179, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635293.1", "url": "https://www.ensembl.org/id/ENST00000635293.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488924.1", "url": "https://www.ensembl.org/id/ENSP00000488924.1" } ] } }, { "isoform_ac": "A0A386NBZ1-1", "url": "https://www.uniprot.org/uniprotkb/A0A386NBZ1/entry", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLPPCRPKQWMI", "length": 35, "header": "tr|A0A386NBZ1-1|A0A386NBZ1_HUMAN Computationally mapped isoform of Tumor protein p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7676242, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000714358.1", "url": "https://www.ensembl.org/id/ENST00000714358.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000519625.1", "url": "https://www.ensembl.org/id/ENSP00000519625.1" } ] } }, { "isoform_ac": "A0AAQ5BHX5-1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHX5/entry", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSR", "length": 367, "header": "tr|A0AAQ5BHX5-1|A0AAQ5BHX5_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7670608, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000714409.1", "url": "https://www.ensembl.org/id/ENST00000714409.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000519679.1", "url": "https://www.ensembl.org/id/ENSP00000519679.1" } ] } }, { "isoform_ac": "A0AAQ5BHY1-1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHY1/entry", "sequence": { "sequence": "MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSRKHFRPGTVDHTCNPSYSGG", "length": 347, "header": "tr|A0AAQ5BHY1-1|A0AAQ5BHY1_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676251, "end_pos": 7666187, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000714356.1", "url": "https://www.ensembl.org/id/ENST00000714356.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000519623.1", "url": "https://www.ensembl.org/id/ENSP00000519623.1" } ] } }, { "isoform_ac": "A0AAQ5BHZ9-1", "url": "https://www.uniprot.org/uniprotkb/A0AAQ5BHZ9/entry", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSLRPFKALVREKGHRPSHSCDVISPPCFCLLQPPEVQKGSVYLPP", "length": 411, "header": "tr|A0AAQ5BHZ9-1|A0AAQ5BHZ9_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7669652, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000714408.1", "url": "https://www.ensembl.org/id/ENST00000714408.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000519678.1", "url": "https://www.ensembl.org/id/ENSP00000519678.1" } ] } }, { "isoform_ac": "E7EMR6-1", "url": "https://www.uniprot.org/uniprotkb/E7EMR6/entry", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQ", "length": 165, "header": "tr|E7EMR6-1|E7EMR6_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000508793.5", "url": "https://www.ensembl.org/id/ENST00000508793.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000424104.1", "url": "https://www.ensembl.org/id/ENSP00000424104.1" } ] } }, { "isoform_ac": "E7EQX7-1", "url": "https://www.uniprot.org/uniprotkb/E7EQX7/entry", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSRPRQVDHLRSGVQDSLANIAKSHLY", "length": 285, "header": "tr|E7EQX7-1|E7EQX7_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7661942, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413465.6", "url": "https://www.ensembl.org/id/ENST00000413465.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000410739.2", "url": "https://www.ensembl.org/id/ENSP00000410739.2" } ] } }, { "isoform_ac": "E7ESS1-1", "url": "https://www.uniprot.org/uniprotkb/E7ESS1/entry", "sequence": { "sequence": "MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQ", "length": 199, "header": "tr|E7ESS1-1|P53_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7675215, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509690.5", "url": "https://www.ensembl.org/id/ENST00000509690.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425104.1", "url": "https://www.ensembl.org/id/ENSP00000425104.1" } ] } }, { "isoform_ac": "E9PCY9-1", "url": "https://www.uniprot.org/uniprotkb/E9PCY9/entry", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYS", "length": 127, "header": "tr|E9PCY9-1|E9PCY9_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=8 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000503591.1", "url": "https://www.ensembl.org/id/ENST00000503591.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000426252.1", "url": "https://www.ensembl.org/id/ENSP00000426252.1" } ] } }, { "isoform_ac": "E9PFT5-1", "url": "https://www.uniprot.org/uniprotkb/E9PFT5/entry", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD", "length": 300, "header": "tr|E9PFT5-1|P53_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=2 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000514944.6", "url": "https://www.ensembl.org/id/ENST00000514944.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000423862.2", "url": "https://www.ensembl.org/id/ENSP00000423862.2" } ] } }, { "isoform_ac": "I3L0W9-1", "url": "https://www.uniprot.org/uniprotkb/I3L0W9/entry", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQPPEVQKGSVYLPP", "length": 344, "header": "tr|I3L0W9-1|I3L0W9_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=2 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7669652, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000576024.2", "url": "https://www.ensembl.org/id/ENST00000576024.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000458393.2", "url": "https://www.ensembl.org/id/ENSP00000458393.2" } ] } }, { "isoform_ac": "J3KP33-1", "url": "https://www.uniprot.org/uniprotkb/J3KP33/entry", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQKTFPARHGGSHL", "length": 343, "header": "tr|J3KP33-1|J3KP33_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=1 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7666209, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359597.8", "url": "https://www.ensembl.org/id/ENST00000359597.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000352610.4", "url": "https://www.ensembl.org/id/ENSP00000352610.4" } ] } }, { "isoform_ac": "P04637-1", "url": "https://www.uniprot.org/uniprotkb/P04637/entry#P04637-1", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD", "length": 393, "header": "sp|P04637-1|P53_HUMAN Isoform 1 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000269305.9", "url": "https://www.ensembl.org/id/ENST00000269305.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000269305.4", "url": "https://www.ensembl.org/id/ENSP00000269305.4" } ] } }, { "isoform_ac": "P04637-2", "url": "https://www.uniprot.org/uniprotkb/P04637/entry#P04637-2", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC", "length": 341, "header": "sp|P04637-2|P53_HUMAN Isoform 2 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7673310, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000420246.6", "url": "https://www.ensembl.org/id/ENST00000420246.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000391127.2", "url": "https://www.ensembl.org/id/ENSP00000391127.2" } ] } }, { "isoform_ac": "P04637-3", "url": "https://www.uniprot.org/uniprotkb/P04637/entry#P04637-3", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS", "length": 346, "header": "sp|P04637-3|P53_HUMAN Isoform 3 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7673222, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455263.6", "url": "https://www.ensembl.org/id/ENST00000455263.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000398846.2", "url": "https://www.ensembl.org/id/ENSP00000398846.2" } ] } }, { "isoform_ac": "P04637-4", "url": "https://www.uniprot.org/uniprotkb/P04637/entry#P04637-4", "sequence": { "sequence": "MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD", "length": 354, "header": "sp|P04637-4|P53_HUMAN Isoform 4 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676251, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000619485.4", "url": "https://www.ensembl.org/id/ENST00000619485.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482537.1", "url": "https://www.ensembl.org/id/ENSP00000482537.1" } ] } }, { "isoform_ac": "P04637-5", "url": "https://www.uniprot.org/uniprotkb/P04637/entry#P04637-5", "sequence": { "sequence": "MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC", "length": 302, "header": "sp|P04637-5|P53_HUMAN Isoform 5 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676251, "end_pos": 7673310, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000622645.4", "url": "https://www.ensembl.org/id/ENST00000622645.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482222.1", "url": "https://www.ensembl.org/id/ENSP00000482222.1" } ] } }, { "isoform_ac": "P04637-6", "url": "https://www.uniprot.org/uniprotkb/P04637/entry#P04637-6", "sequence": { "sequence": "MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS", "length": 307, "header": "sp|P04637-6|P53_HUMAN Isoform 6 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676251, "end_pos": 7673222, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000610538.4", "url": "https://www.ensembl.org/id/ENST00000610538.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000480868.1", "url": "https://www.ensembl.org/id/ENSP00000480868.1" } ] } }, { "isoform_ac": "P04637-7", "url": "https://www.uniprot.org/uniprotkb/P04637/entry#P04637-7", "sequence": { "sequence": "MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD", "length": 261, "header": "sp|P04637-7|P53_HUMAN Isoform 7 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7675215, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000504937.5", "url": "https://www.ensembl.org/id/ENST00000504937.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000481179.1", "url": "https://www.ensembl.org/id/ENSP00000481179.1" } ] } }, { "isoform_ac": "P04637-8", "url": "https://www.uniprot.org/uniprotkb/P04637/entry#P04637-8", "sequence": { "sequence": "MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC", "length": 209, "header": "sp|P04637-8|P53_HUMAN Isoform 8 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7675215, "end_pos": 7673310, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000510385.5", "url": "https://www.ensembl.org/id/ENST00000510385.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000478499.1", "url": "https://www.ensembl.org/id/ENSP00000478499.1" } ] } }, { "isoform_ac": "P04637-9", "url": "https://www.uniprot.org/uniprotkb/P04637/entry#P04637-9", "sequence": { "sequence": "MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS", "length": 214, "header": "sp|P04637-9|P53_HUMAN Isoform 9 of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=4 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7675215, "end_pos": 7673222, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000504290.5", "url": "https://www.ensembl.org/id/ENST00000504290.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000484409.1", "url": "https://www.ensembl.org/id/ENSP00000484409.1" } ] } }, { "isoform_ac": "S4R334-1", "url": "https://www.uniprot.org/uniprotkb/S4R334/entry", "sequence": { "sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD", "length": 386, "header": "tr|S4R334-1|S4R334_HUMAN Computationally mapped isoform of Cellular tumor antigen p53 OS=Homo sapiens OX=9606 GN=TP53 PE=1 SV=2 CANONICAL=P04637-1" }, "locus": { "chromosome": "17", "start_pos": 7676594, "end_pos": 7669612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000604348.6", "url": "https://www.ensembl.org/id/ENST00000604348.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000473895.2", "url": "https://www.ensembl.org/id/ENSP00000473895.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 149, "start_aa": "Ser", "end_pos": 149, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser149", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "P04637", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04637" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "30086259", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30086259" }, { "id": "27402830", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27402830" }, { "id": "38501674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38501674" }, { "id": "25619971", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25619971" }, { "id": "20668475", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20668475" }, { "id": "22365600", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22365600" }, { "id": "30462203", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30462203" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "16964247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16964247" }, { "id": "28878262", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28878262" }, { "id": "P04637", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P04637" }, { "id": "34417460", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34417460" } ], "filter_code": "000000000000000100000.xxxxxxx.00000001000000.xxxxxxx.xxxxxxxxxx.xxxxxxxxxxxxxxxxxx.xxxxx.01011" }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=2YDR&bu=0&command=select+.P:149;+center+selection;+zoom+selection" }, "start_pos": 149, "start_aa": "Ser", "end_pos": 149, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser149", "evidence": [ { "id": "2YDR", "database": "PDB", "url": "https://www.rcsb.org/structure/2YDR" }, { "id": "5UN8", "database": "PDB", "url": "https://www.rcsb.org/structure/5UN8" } ], "filter_code": "000000000000000100000.00000000001000.00.01011" }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 81, "start_aa": "Thr", "end_pos": 81, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr81", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ], "filter_code": "000000000000000010000.00000000001000.0.01011" } ], "phosphorylation": [ { "start_pos": 106, "end_pos": 106, "kinase_uniprot_canonical_ac": "O14965-1", "kinase_gene_name": "AURKA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "23201157", "url": "https://glygen.org/publication/PubMed/23201157" } ], "site_lbl": "Ser106" }, { "start_pos": 106, "end_pos": 106, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "23201157", "url": "https://glygen.org/publication/PubMed/23201157" }, { "database": "PubMed", "id": "25075982", "url": "https://glygen.org/publication/PubMed/25075982" } ], "site_lbl": "Ser106" }, { "start_pos": 149, "end_pos": 149, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "28539160", "url": "https://glygen.org/publication/PubMed/28539160" } ], "site_lbl": "Ser149" }, { "start_pos": 150, "end_pos": 150, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "28539160", "url": "https://glygen.org/publication/PubMed/28539160" } ], "site_lbl": "Thr150" }, { "start_pos": 155, "end_pos": 155, "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "12628923", "url": "https://glygen.org/publication/PubMed/12628923" } ], "site_lbl": "Thr155" }, { "start_pos": 155, "end_pos": 155, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "11285227", "url": "https://glygen.org/publication/PubMed/11285227" }, { "database": "PubMed", "id": "16964247", "url": "https://glygen.org/publication/PubMed/16964247" }, { "database": "PubMed", "id": "23340843", "url": "https://glygen.org/publication/PubMed/23340843" }, { "database": "PubMed", "id": "28539160", "url": "https://glygen.org/publication/PubMed/28539160" }, { "database": "PubMed", "id": "33745968", "url": "https://glygen.org/publication/PubMed/33745968" } ], "site_lbl": "Thr155" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "O14757-1", "kinase_gene_name": "CHEK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "10673501", "url": "https://glygen.org/publication/PubMed/10673501" }, { "database": "PubMed", "id": "11551930", "url": "https://glygen.org/publication/PubMed/11551930" }, { "database": "PubMed", "id": "11709713", "url": "https://glygen.org/publication/PubMed/11709713" }, { "database": "PubMed", "id": "9765199", "url": "https://glygen.org/publication/PubMed/9765199" }, { "database": "PubMed", "id": "15659650", "url": "https://glygen.org/publication/PubMed/15659650" } ], "site_lbl": "Ser15" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "O60285-1", "kinase_gene_name": "NUAK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "21317932", "url": "https://glygen.org/publication/PubMed/21317932" } ], "site_lbl": "Ser15" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "O96017-1", "kinase_gene_name": "CHEK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04637", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04637" }, { "database": "PubMed", "id": "10656682", "url": "https://glygen.org/publication/PubMed/10656682" }, { "database": "PubMed", "id": "10673501", "url": 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"uniprot_canonical_ac": "O15350-1", "protein_name": "Tumor protein p73", "gene_name": "TP73", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MAQSTATSPDGGTTFEHLWSSLEPDSTYFDLPQSSRGNNEVVGGTDSSMDVFHLEGMTTSVMAQFNLLSSTMDQMSSRAASASPYTPEHAASVPTHSPYAQPSSTFDTMSPAPVIPSNTDYPGPHHFEVTFQQSSTAKSATWTYSPLLKKLYCQIAKTCPIQIKVSTPPPPGTAIRAMPVYKKAEHVTDVVKRCPNHELGRDFNEGQSAPASHLIRVEGNNLSQYVDDPVTGRQSVVVPYEPPQVGTEFTTILYNFMCNSSCVGGMNRRPILIIITLEMRDGQVLGRRSFEGRICACPGRDRKADEDHYREQQALNESSAKNGAASKRAFKQSPPAVPALGAGVKKRRHGDEDTYYLQVRGRENFEILMKLKESLELMELVPQPLVDSYRQQQQLLQRPSHLQPPSYGPVLSPMNKVHGGMNKLPSVNQLVGQPPPHSSAATPNLGPVGPGMLNNHGHAVPANGEMSSSHSAQSMVSGSHCTPPPPYHADPSLVSFLTGLGCPNCIEYFTSQGLQSIYHLQNLTIEDLGALKIPEQYRMTIWRGLQDLKQGHDYSTAQQLLRSSNAATISIGGSGELQRQRVMEAVHFRVRHTITIPNRGGPGGGPDEWADFGFDLPDCKARKQPIKEEFTEAEIH", "length": 636 }, "evidence": [ { "id": "FB:FBgn0039044", "url": "https://alliancegenome.org/gene/FB:FBgn0039044#orthology", "database": "AGR" } ], "glygen_name": "Human", "common_name": "Human" }, { "uniprot_canonical_ac": "O88898-1", "protein_name": "Tumor protein 63", "gene_name": "Tp63", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNFETSRCATLQYCPDPYIQRFIETPAHFSWKESYYRSAMSQSTQTSEFLSPEVFQHIWDFLEQPICSVQPIELNFVDEPSENGATNKIEISMDCIRMQDSDLSDPMWPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALSPSPAIPSNTDYPGPHSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEVVKRCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRPILIIVTLETRDGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSAKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLYLPVRGRETYEMLLKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSMQSQSSYGNSSPPLNKMNSMNKLPSVSQLINPQQRNALTPTTMPEGMGANIPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGILDHRQLHDFSSPPHLLRTPSGASTVSVGSSETRGERVIDAVRFTLRQTISFPPRDEWNDFNFDMDSRRNKQQRIKEEGE", "length": 680 }, "evidence": [ { "id": "FB:FBgn0039044", "url": "https://alliancegenome.org/gene/FB:FBgn0039044#orthology", "database": "AGR" } ], "glygen_name": "Mouse", "common_name": "Mouse" }, { "uniprot_canonical_ac": "P02340-1", "protein_name": "Cellular tumor antigen p53", "gene_name": "Tp53", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTAMEESQSDISLELPLSQETFSGLWKLLPPEDILPSPHCMDDLLLPQDVEEFFEGPSEALRVSGAPAAQDPVTETPGPVAPAPATPWPLSSFVPSQKTYQGNYGFHLGFLQSGTAKSVMCTYSPPLNKLFCQLAKTCPVQLWVSATPPAGSRVRAMAIYKKSQHMTEVVRRCPHHERCSDGDGLAPPQHLIRVEGNLYPEYLEDRQTFRHSVVVPYEPPEAGSEYTTIHYKYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRDSFEVRVCACPGRDRRTEEENFRKKEVLCPELPPGSAKRALPTCTSASPPQKKKPLDGEYFTLKIRGRKRFEMFRELNEALELKDAHATEESGDSRAHSSYLKTKKGQSTSRHKKTMVKKVGPDSD", "length": 390 }, "evidence": [ { "id": "RGD:3889", "url": "https://alliancegenome.org/gene/RGD:3889#orthology", "database": "AGR" }, { "id": "HGNC:11998", "url": "https://alliancegenome.org/gene/HGNC:11998#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-990415-270", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-990415-270#orthology", "database": "AGR" }, { "id": "MGI:98834", "url": "https://alliancegenome.org/gene/MGI:98834#orthology", "database": "AGR" }, { "id": "FB:FBgn0039044", "url": "https://alliancegenome.org/gene/FB:FBgn0039044#orthology", "database": "AGR" }, { "id": "P04637", "url": "https://omabrowser.org/oma/group/P04637/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" }, { "uniprot_canonical_ac": "P10361-1", "protein_name": "Cellular tumor antigen p53", "gene_name": "Tp53", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEDSQSDMSIELPLSQETFSCLWKLLPPDDILPTTATGSPNSMEDLFLPQDVAELLEGPEEALQVSAPAAQEPGTEAPAPVAPASATPWPLSSSVPSQKTYQGNYGFHLGFLQSGTAKSVMCTYSISLNKLFCQLAKTCPVQLWVTSTPPPGTRVRAMAIYKKSQHMTEVVRRCPHHERCSDGDGLAPPQHLIRVEGNPYAEYLDDRQTFRHSVVVPYEPPEVGSDYTTIHYKYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRDSFEVRVCACPGRDRRTEEENFRKKEEHCPELPPGSAKRALPTSTSSSPQQKKKPLDGEYFTLKIRGRERFEMFRELNEALELKDARAAEESGDSRAHSSYPKTKKGQSTSRHKKPMIKKVGPDSD", "length": 391 }, "evidence": [ { "id": "RGD:3889", "url": "https://alliancegenome.org/gene/RGD:3889#orthology", "database": "AGR" }, { "id": "HGNC:11998", "url": "https://alliancegenome.org/gene/HGNC:11998#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-990415-270", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-990415-270#orthology", "database": "AGR" }, { "id": "MGI:98834", "url": "https://alliancegenome.org/gene/MGI:98834#orthology", "database": "AGR" }, { "id": "FB:FBgn0039044", "url": "https://alliancegenome.org/gene/FB:FBgn0039044#orthology", "database": "AGR" }, { "id": "P04637", "url": "https://omabrowser.org/oma/group/P04637/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "P67939-1", "protein_name": "Cellular tumor antigen p53", "gene_name": "TP53", "tax_id": 9913, "organism": "Bos taurus", "sequence": { "sequence": "MEESQAELNVEPPLSQETFSDLWNLLPENNLLSSELSAPVDDLLPYTDVATWLDECPNEAPQMPEPSAPAAPPPATPAPATSWPLSSFVPSQKTYPGNYGFRLGFLQSGTAKSVTCTYSPSLNKLFCQLAKTCPVQLWVDSPPPPGTRVRAMAIYKKLEHMTEVVRRCPHHERSSDYSDGLAPPQHLIRVEGNLRAEYLDDRNTFRHSVVVPYESPEIDSECTTIHYNFMCNSSCMGGMNRRPILTIITLEDSCGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGQSCPEPPPRSTKRALPTNTSSSPQPKKKPLDGEYFTLQIRGFKRYEMFRELNDALELKDALDGREPGESRAHSSHLKSKKRPSPSCHKKPMLKREGPDSD", "length": 386 }, "evidence": [ { "id": "P04637", "url": "https://omabrowser.org/oma/group/P04637/", "database": "OMA" } ], "glygen_name": "Bovine", "common_name": "Bovine" }, { "uniprot_canonical_ac": "P79734-1", "protein_name": "Cellular tumor antigen p53", "gene_name": "tp53", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MAQNDSQEFAELWEKNLIIQPPGGGSCWDIINDEEYLPGSFDPNFFENVLEEQPQPSTLPPTSTVPETSDYPGDHGFRLRFPQSGTAKSVTCTYSPDLNKLFCQLAKTCPVQMVVDVAPPQGSVVRATAIYKKSEHVAEVVRRCPHHERTPDGDNLAPAGHLIRVEGNQRANYREDNITLRHSVFVPYEAPQLGAEWTTVLLNYMCNSSCMGGMNRRPILTIITLETQEGQLLGRRSFEVRVCACPGRDRKTEESNFKKDQETKTMAKTTTGTKRSLVKESSSATLRPEGSKKAKGSSSDEEIFTLQVRGRERYEILKKLNDSLELSDVVPASDAEKYRQKFMTKNKKENRESSEPKQGKKLMVKDEGRSDSD", "length": 373 }, "evidence": [ { "id": "RGD:3889", "url": "https://alliancegenome.org/gene/RGD:3889#orthology", "database": "AGR" }, { "id": "HGNC:11998", "url": "https://alliancegenome.org/gene/HGNC:11998#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-990415-270", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-990415-270#orthology", "database": "AGR" }, { "id": "MGI:98834", "url": "https://alliancegenome.org/gene/MGI:98834#orthology", "database": "AGR" }, { "id": "FB:FBgn0039044", "url": "https://alliancegenome.org/gene/FB:FBgn0039044#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "Q8IMZ4-1", "protein_name": "P53, isoform B", "gene_name": "p53", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSLHKSASFSLTFNQNTSIVSRSNSRTIFEAFKEFLDFWDIGNEVSAESAVRVSSNGAFNLPQSFGNESNEYAHLATPVDPAYGGNNTNNMMQFTNNLEILANNNSDGNNKINACNKFVCHKGTDSEDDSTEVDIKEDIPKTVEVSGSELTTEPMAFLQGLNSGNLMQFSQQSVLREMMLQDIQIQANTLPKLENHNIGGYCFSMVLDEPPKSLWMYSIPLNKLYIRMNKAFNVDVQFKSKMPIQPLNLRVFLCFSNDVSAPVVRCQNHLSVEPLTANNAKMRESLLRSENPNSVYCGNAQGKGISERFSVVVPLNMSRSVTRSGLTRQTLAFKFVCQNSCIGRKETSLVFCLEKACGDIVGQHVIHVKICTCPKRDRIQDERQLNSKKRKSVPEAAEEDEPSKVRRCIAIKTEDTESNDSRDCDDSAAEWNVSRTPDGDYRLAITCPNKEWLLQSIEGMIKEAAAEVLRNPNQENLRRHANKLLSLKKRAYELP", "length": 495 }, "evidence": [ { "id": "RGD:3889", "url": "https://alliancegenome.org/gene/RGD:3889#orthology", "database": "AGR" }, { "id": "HGNC:11998", "url": "https://alliancegenome.org/gene/HGNC:11998#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-990415-270", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-990415-270#orthology", "database": "AGR" }, { "id": "MGI:98834", "url": "https://alliancegenome.org/gene/MGI:98834#orthology", "database": "AGR" }, { "id": "FB:FBgn0039044", "url": "https://alliancegenome.org/gene/FB:FBgn0039044#orthology", "database": "AGR" } ], "glygen_name": "Fruit fly", "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q9H3D4-1", "protein_name": "Tumor protein 63", "gene_name": "TP63", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MNFETSRCATLQYCPDPYIQRFVETPAHFSWKESYYRSTMSQSTQTNEFLSPEVFQHIWDFLEQPICSVQPIDLNFVDEPSEDGATNKIEISMDCIRMQDSDLSDPMWPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALSPSPAIPSNTDYPGPHSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEVVKRCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRPILIIVTLETRDGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLYLPVRGRETYEMLLKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQLINPQQRNALTPTTIPDGMGANIPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGILDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRFTLRQTISFPPRDEWNDFNFDMDARRNKQQRIKEEGE", "length": 680 }, "evidence": [ { "id": "FB:FBgn0039044", "url": "https://alliancegenome.org/gene/FB:FBgn0039044#orthology", "database": "AGR" } ], "glygen_name": "Human", "common_name": "Human" }, { "uniprot_canonical_ac": "Q9JJP2-1", "protein_name": "Tumor protein p73", "gene_name": "Tp73", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAQTSSSSSSTFEHLWSSLEPDSTYFDLPQPSQGTSEASGSEESNMDVFHLQGMAQFNLLSSAMDQMGSRAAPASPYTPEHAASAPTHSPYAQPSSTFDTMSPAPVIPSNTDYPGPHHFEVTFQQSSTAKSATWTYSPLLKKLYCQIAKTCPIQIKVSTPPPPGTAIRAMPVYKKAEHVTDIVKRCPNHELGRDFNEGQSAPASHLIRVEGNNLAQYVDDPVTGRQSVVVPYEPPQVGTEFTTILYNFMCNSSCVGGMNRRPILVIITLETRDGQVLGRRSFEGRICACPGRDRKADEDHYREQQALNESTTKNGAASKRAFKQSPPAIPALGTNVKKRRHGDEDMFYMHVRGRENFEILMKVKESLELMELVPQPLVDSYRQQQQQQLLQRPSHLQPPSYGPVLSPMNKVHGGVNKLPSVNQLVGQPPPHSSAAGPNLGPMGSGMLNSHGHSMPANGEMNGGHSSQTMVSGSHCTPPPPYHADPSLVSFLTGLGCPNCIECFTSQGLQSIYHLQNLTIEDLGALKVPDQYRMTIWRGLQDLKQSHDCGQQLLRSSSNAATISIGGSGELQRQRVMEAVHFRVRHTITIPNRGGAGAVTGPDEWADFGFDLPDCKSRKQPIKEEFTETESH", "length": 631 }, "evidence": [ { "id": "FB:FBgn0039044", "url": "https://alliancegenome.org/gene/FB:FBgn0039044#orthology", "database": "AGR" } ], "glygen_name": "Mouse", "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9JJP6-1", "protein_name": "Tumor protein 63", "gene_name": "Tp63", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MNFETSRCATLQYCPDPYIQRFIETPSHFSWKESYYRSAMSQSTQTSEFLSPEVFQHIWDFLEQPICSVQPIDLNFVDEPSENGATNKIEISMDCIRMQDSDLSDPMWPQYTNLGLLNGMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALSPSPAIPSNTDYPGPHSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEVVKRCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRPILIIVTLETRDGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSAKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLYLPVRGRETYEMLLKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSMQSQSSYGNSSPPLNKMNSMNKLPSVSQLINPQQRNALTPTTMPEGMGANIPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGILDHRQLHDFSSPPHLLRTPSGASTVSVGSSETRGERVIDAVRFTLRQTISFPPRDEWNDFNFDMDSRRNKQQRIKEEGE", "length": 680 }, "evidence": [ { "id": "FB:FBgn0039044", "url": "https://alliancegenome.org/gene/FB:FBgn0039044#orthology", "database": "AGR" } ], "glygen_name": "Rat", "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 77, "go_terms": [ { "name": "negative regulation of helicase activity", "id": "GO:0051097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051097", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "viral process", "id": "GO:0016032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016032", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "hematopoietic stem cell differentiation", "id": "GO:0060218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060218", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "type II interferon-mediated signaling pathway", "id": "GO:0060333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060333", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of thymocyte apoptotic process", "id": "GO:0070245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070245", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of telomere maintenance via telomerase", "id": "GO:0032211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032211", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species metabolic process", "id": "GO:2000379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000379", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "response to antibiotic", "id": "GO:0046677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046677", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:0072332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072332", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of cellular senescence", "id": "GO:2000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000774", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "ER overload response", "id": "GO:0006983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006983", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of execution phase of apoptosis", "id": "GO:1900119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900119", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "regulation of cell cycle G2/M phase transition", "id": "GO:1902749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902749", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "oligodendrocyte apoptotic process", "id": "GO:0097252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097252", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": 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"https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "entrainment of circadian clock by photoperiod", "id": "GO:0043153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043153", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of RNA polymerase II transcription preinitiation complex assembly", "id": "GO:0045899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045899", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "circadian behavior", "id": "GO:0048512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048512", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "oxidative stress-induced premature senescence", "id": "GO:0090403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090403", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "mitotic G1 DNA damage checkpoint signaling", "id": "GO:0031571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031571", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "signal transduction by p53 class mediator", "id": "GO:0072331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072331", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cellular response to actinomycin D", "id": "GO:0072717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072717", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "positive regulation of programmed necrotic cell death", "id": "GO:0062100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062100", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of pentose-phosphate shunt", "id": "GO:1905856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905856", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "negative regulation of G1 to G0 transition", "id": "GO:1903451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903451", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "rhythmic process", "id": 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"go_terms": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "zinc ion binding", "id": 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"https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "core promoter sequence-specific DNA binding", "id": "GO:0001046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001046", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "ATP-dependent DNA/DNA annealing activity", "id": "GO:0036310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036310", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "MDM2/MDM4 family protein binding", "id": "GO:0097371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097371", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "disordered domain specific binding", "id": "GO:0097718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097718", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "general transcription initiation factor binding", "id": "GO:0140296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140296", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "molecular function activator activity", "id": "GO:0140677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140677", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 15, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 239, "end_pos": 241, "annotation": "n_glycosylation_sequon" }, { "start_pos": 310, "end_pos": 312, "annotation": "n_glycosylation_sequon" }, { "start_pos": 311, "end_pos": 313, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Acetylation of Lys-382 by CREBBP enhances transcriptional activity (PubMed:10656795, PubMed:15448695, PubMed:20228809, PubMed:23431171). Acetylation of Lys-382 by EP300 (PubMed:10656795, PubMed:15448695, PubMed:20228809, PubMed:23431171). Deacetylation of Lys-382 by SIRT1 impairs its ability to induce proapoptotic program and modulate cell senescence (PubMed:10656795, PubMed:15448695, PubMed:20228809, PubMed:23431171). Deacetylation by SIRT2 impairs its ability to induce transcription activation in a AKT-dependent manner (PubMed:10656795, PubMed:15448695, PubMed:20228809, PubMed:23431171, PubMed:29681526). Acetylation at Lys-381 increases stability (PubMed:29474172). Deacetylation at Lys-381 by SIRT6 decreases its stability, thereby regulating cell senescence (PubMed:29474172). Acetylated at Lys-120 by KAT5, KAT6A and KAT8; regulating its ability to induce proapoptotic program (PubMed:17189187, PubMed:19854137, PubMed:23431171).", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "23431171", "url": "https://glygen.org/publication/PubMed/23431171" }, { "database": "PubMed", "id": "20228809", "url": "https://glygen.org/publication/PubMed/20228809" }, { "database": "PubMed", "id": "10656795", "url": "https://glygen.org/publication/PubMed/10656795" }, { "database": "PubMed", "id": "15448695", "url": "https://glygen.org/publication/PubMed/15448695" }, { "database": "PubMed", "id": "29474172", "url": "https://glygen.org/publication/PubMed/29474172" }, { "database": "PubMed", "id": "29681526", "url": "https://glygen.org/publication/PubMed/29681526" }, { "database": "PubMed", "id": "19854137", "url": "https://glygen.org/publication/PubMed/19854137" }, { "database": "PubMed", "id": "17189187", "url": "https://glygen.org/publication/PubMed/17189187" } ] }, { "annotation": "Lactylation by AARS1 prevents ability to undergo liquid-liquid phase separation (LLPS), thereby inhibiting transcription factor activity.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "38653238", "url": "https://glygen.org/publication/PubMed/38653238" } ] }, { "annotation": "May be O-glycosylated in the C-terminal basic region. Studied in EB-1 cell line.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "8632915", "url": "https://glygen.org/publication/PubMed/8632915" } ] }, { "annotation": "Monomethylated at Lys-372 by SETD7, leading to stabilization and increased transcriptional activation (PubMed:15525938, PubMed:16415881). Monomethylated at Lys-370 by SMYD2, leading to decreased DNA-binding activity and subsequent transcriptional regulation activity (PubMed:17108971). Lys-372 monomethylation prevents interaction with SMYD2 and subsequent monomethylation at Lys-370 (PubMed:17108971). Dimethylated at Lys-373 by EHMT1 and EHMT2 (PubMed:20118233). Monomethylated at Lys-382 by KMT5A, promoting interaction with L3MBTL1 and leading to repress transcriptional activity (PubMed:17707234). Dimethylation at Lys-370 and Lys-382 diminishes p53 ubiquitination, through stabilizing association with the methyl reader PHF20 (PubMed:22864287). Demethylation of dimethylated Lys-370 by KDM1A prevents interaction with TP53BP1 and represses TP53-mediated transcriptional activation (PubMed:17805299). Monomethylated at Arg-333 and dimethylated at Arg-335 and Arg-337 by PRMT5; methylation is increased after DNA damage and might possibly affect TP53 target gene specificity (PubMed:19011621).", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "17707234", "url": "https://glygen.org/publication/PubMed/17707234" }, { "database": "PubMed", "id": "15525938", "url": "https://glygen.org/publication/PubMed/15525938" }, { "database": "PubMed", "id": "22864287", "url": "https://glygen.org/publication/PubMed/22864287" }, { "database": "PubMed", "id": "17108971", "url": "https://glygen.org/publication/PubMed/17108971" }, { "database": "PubMed", "id": "16415881", "url": "https://glygen.org/publication/PubMed/16415881" }, { "database": "PubMed", "id": "17805299", "url": "https://glygen.org/publication/PubMed/17805299" }, { "database": "PubMed", "id": "19011621", "url": "https://glygen.org/publication/PubMed/19011621" }, { "database": "PubMed", "id": "20118233", "url": "https://glygen.org/publication/PubMed/20118233" } ] }, { "annotation": "Phosphorylation on Ser residues mediates transcriptional activation. Phosphorylated by HIPK1 (By similarity). Phosphorylation at Ser-9 by HIPK4 increases repression activity on BIRC5 promoter. Phosphorylated on Thr-18 by VRK1, which may prevent the interaction with MDM2 (PubMed:10951572, PubMed:31527692). Phosphorylated on Ser-20 by CHEK2 in response to DNA damage, which prevents ubiquitination by MDM2. Phosphorylated on Ser-20 by PLK3 in response to reactive oxygen species (ROS), promoting p53/TP53-mediated apoptosis. Phosphorylated on Thr-55 by TAF1, which promotes MDM2-mediated degradation. Phosphorylated on Ser-33 by CDK7 in a CAK complex in response to DNA damage. Phosphorylated on Ser-46 by HIPK2 upon UV irradiation. Phosphorylation on Ser-46 is required for acetylation by CREBBP. Phosphorylated on Ser-392 following UV but not gamma irradiation. Phosphorylated by NUAK1 at Ser-15 and Ser-392; was initially thought to be mediated by STK11/LKB1 but it was later shown that it is indirect and that STK11/LKB1-dependent phosphorylation is probably mediated by downstream NUAK1 (PubMed:21317932). It is unclear whether AMP directly mediates phosphorylation at Ser-15. Phosphorylated on Thr-18 by isoform 1 and isoform 2 of VRK2. Phosphorylation on Thr-18 by isoform 2 of VRK2 results in a reduction in ubiquitination by MDM2 and an increase in acetylation by EP300. Stabilized by CDK5-mediated phosphorylation in response to genotoxic and oxidative stresses at Ser-15, Ser-33 and Ser-46, leading to accumulation of p53/TP53, particularly in the nucleus, thus inducing the transactivation of p53/TP53 target genes. Phosphorylated by DYRK2 at Ser-46 in response to genotoxic stress. Phosphorylated at Ser-315 and Ser-392 by CDK2 in response to DNA-damage. Phosphorylation at Ser-15 is required for interaction with DDX3X and gamma-tubulin (PubMed:28842590). Phosphorylation at Ser-392 regulates its ability to undergo liquid-liquid phase separation by increasing fluidity of TP53/p53 condensates (PubMed:35618207).", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "11780126", "url": "https://glygen.org/publication/PubMed/11780126" }, { "database": "PubMed", "id": "17254968", "url": "https://glygen.org/publication/PubMed/17254968" }, { "database": "PubMed", "id": "2141171", "url": "https://glygen.org/publication/PubMed/2141171" }, { "database": "PubMed", "id": "17349958", "url": "https://glygen.org/publication/PubMed/17349958" }, { "database": "PubMed", "id": "11554766", "url": "https://glygen.org/publication/PubMed/11554766" }, { "database": "PubMed", "id": "20041275", "url": "https://glygen.org/publication/PubMed/20041275" }, { "database": "PubMed", "id": "10884347", "url": "https://glygen.org/publication/PubMed/10884347" }, { "database": "PubMed", "id": "17591690", "url": "https://glygen.org/publication/PubMed/17591690" }, { "database": "PubMed", "id": "15866171", "url": "https://glygen.org/publication/PubMed/15866171" }, { "database": "PubMed", "id": "10951572", "url": "https://glygen.org/publication/PubMed/10951572" }, { "database": "PubMed", "id": "21317932", "url": "https://glygen.org/publication/PubMed/21317932" }, { "database": "PubMed", "id": "11740489", "url": "https://glygen.org/publication/PubMed/11740489" }, { "database": "PubMed", "id": "16704422", "url": "https://glygen.org/publication/PubMed/16704422" }, { "database": "PubMed", "id": "22214662", "url": "https://glygen.org/publication/PubMed/22214662" }, { "database": "PubMed", "id": "14702041", "url": "https://glygen.org/publication/PubMed/14702041" }, { "database": "PubMed", "id": "10570149", "url": "https://glygen.org/publication/PubMed/10570149" }, { "database": "PubMed", "id": "18022393", "url": "https://glygen.org/publication/PubMed/18022393" }, { "database": "PubMed", "id": "1705009", "url": "https://glygen.org/publication/PubMed/1705009" }, { "database": "PubMed", "id": "11546806", "url": "https://glygen.org/publication/PubMed/11546806" }, { "database": "PubMed", "id": "10606744", "url": "https://glygen.org/publication/PubMed/10606744" }, { "database": "PubMed", "id": "11239457", "url": "https://glygen.org/publication/PubMed/11239457" }, { "database": "PubMed", "id": "15053879", "url": "https://glygen.org/publication/PubMed/15053879" }, { "database": "PubMed", "id": "9372954", "url": "https://glygen.org/publication/PubMed/9372954" }, { "database": "PubMed", "id": "17967874", "url": "https://glygen.org/publication/PubMed/17967874" }, { "database": "PubMed", "id": "20959462", "url": "https://glygen.org/publication/PubMed/20959462" }, { "database": "PubMed", "id": "20124405", "url": "https://glygen.org/publication/PubMed/20124405" }, { "database": "PubMed", "id": "16377624", "url": "https://glygen.org/publication/PubMed/16377624" }, { "database": "PubMed", "id": "11447225", "url": "https://glygen.org/publication/PubMed/11447225" }, { "database": "PubMed", "id": "17108107", "url": "https://glygen.org/publication/PubMed/17108107" }, { "database": "PubMed", "id": "11551930", "url": "https://glygen.org/publication/PubMed/11551930" }, { "database": "PubMed", "id": "28842590", "url": "https://glygen.org/publication/PubMed/28842590" }, { "database": "PubMed", "id": "12810724", "url": "https://glygen.org/publication/PubMed/12810724" }, { "database": "PubMed", "id": "31527692", "url": "https://glygen.org/publication/PubMed/31527692" } ] }, { "annotation": "Sumoylated with SUMO1. Sumoylated at Lys-386 by UBC9.", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "22214662", "url": "https://glygen.org/publication/PubMed/22214662" }, { "database": "PubMed", "id": "11124955", "url": "https://glygen.org/publication/PubMed/11124955" } ] }, { "annotation": "Ubiquitinated by MDM2 and SYVN1, which leads to proteasomal degradation (PubMed:10722742, PubMed:12810724, PubMed:15340061, PubMed:17170702, PubMed:19880522, PubMed:29681526). Ubiquitinated by RFWD3, which works in cooperation with MDM2 and may catalyze the formation of short polyubiquitin chains on p53/TP53 that are not targeted to the proteasome (PubMed:10722742, PubMed:12810724, PubMed:20173098). Ubiquitinated by MKRN1 at Lys-291 and Lys-292, which leads to proteasomal degradation (PubMed:19536131). Deubiquitinated by USP10, leading to its stabilization (PubMed:20096447). Ubiquitinated by TRIM24, RFFL, RNF34 and RNF125, which leads to proteasomal degradation (PubMed:19556538). Ubiquitination by TOPORS induces degradation (PubMed:19473992). Deubiquitination by USP7, leading to stabilization (PubMed:15053880). Isoform 4 is monoubiquitinated in an MDM2-independent manner (PubMed:15340061). Ubiquitinated by COP1, which leads to proteasomal degradation (PubMed:19837670). Ubiquitination and subsequent proteasomal degradation is negatively regulated by CCAR2 (PubMed:25732823). Polyubiquitinated by C10orf90/FATS, polyubiquitination is 'Lys-48'-linkage independent and non-proteolytic, leading to TP53 stabilization (By similarity). Polyubiquitinated by MUL1 at Lys-24 which leads to proteasomal degradation (PubMed:21597459). Deubiquitinated by USP3, leading to stabilization (PubMed:28807825). Ubiquitinated by MSL2, promoting its cytoplasmic localization (PubMed:19033443). Also ubiquitinated by the SCF(FBXO22)-KDMA4A complex; leading to proteasomal degradation (PubMed:26868148).", "evidence": [ { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprotkb/P04637" }, { "database": "PubMed", "id": "20096447", "url": "https://glygen.org/publication/PubMed/20096447" }, { "database": "PubMed", "id": "17170702", "url": "https://glygen.org/publication/PubMed/17170702" }, { "database": "PubMed", "id": "18206965", "url": "https://glygen.org/publication/PubMed/18206965" }, { "database": "PubMed", "id": "25732823", "url": "https://glygen.org/publication/PubMed/25732823" }, { "database": "PubMed", "id": "19556538", "url": "https://glygen.org/publication/PubMed/19556538" }, { "database": "PubMed", "id": "20173098", "url": "https://glygen.org/publication/PubMed/20173098" }, { "database": "PubMed", "id": "25591766", "url": "https://glygen.org/publication/PubMed/25591766" }, { "database": "PubMed", "id": "19536131", "url": "https://glygen.org/publication/PubMed/19536131" }, { "database": "PubMed", "id": "10722742", "url": "https://glygen.org/publication/PubMed/10722742" }, { "database": "PubMed", "id": "21597459", "url": "https://glygen.org/publication/PubMed/21597459" }, { "database": "PubMed", "id": "19473992", "url": "https://glygen.org/publication/PubMed/19473992" }, { "database": "PubMed", "id": "19837670", "url": "https://glygen.org/publication/PubMed/19837670" }, { "database": "PubMed", "id": "19880522", "url": "https://glygen.org/publication/PubMed/19880522" }, { "database": "PubMed", "id": "15340061", "url": "https://glygen.org/publication/PubMed/15340061" }, { "database": "PubMed", "id": "15053880", "url": "https://glygen.org/publication/PubMed/15053880" }, { "database": "PubMed", "id": "12810724", "url": "https://glygen.org/publication/PubMed/12810724" }, { "database": "PubMed", "id": "26868148", "url": "https://glygen.org/publication/PubMed/26868148" }, { "database": "PubMed", "id": "29681526", "url": "https://glygen.org/publication/PubMed/29681526" }, { "database": "PubMed", "id": "19033443", "url": "https://glygen.org/publication/PubMed/19033443" }, { "database": "PubMed", "id": "28807825", "url": "https://glygen.org/publication/PubMed/28807825" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [ { "biomarker_id": "AN6766-1", "biomarker_canonical_id": "AN6766", "best_biomarker_role": [ "diagnostic" ], "condition": { "id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "name_list": [ "liver cancer", "Ca liver - primary", "Resectable malignant neoplasm of Liver", "hepatic cancer", "hepatic neoplasm", "malignant hepato-biliary neoplasm", "malignant neoplasm of liver", "malignant neoplasm of liver, primary", "malignant tumor of liver", "neoplasm of liver", "non-resectable primary hepatic malignant neoplasm", "primary liver cancer", "primary malignant neoplasm of liver", "resectable malignant neoplasm of the liver", "malignant neoplasm of liver, not specified as primary or secondary" ], "id_list": [ "DOID:3571" ] }, "evidence": [ { "id": "AN6766-1", "database": "BiomarkerKB", "url": "https://biomarkerkb.org/biomarker/AN6766-1" }, { "id": "16534867", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16534867" } ], "assessed_biomarker_entity": [ "Cellular tumor antigen p53" ], "biomarker": [ "increased p53 level" ] } ], "structures": [ { "pdb_id": "AF-P04637-F1", "pdb_chain": "global", "start_pos": 1, "end_pos": 393, "overlap": "1.0", "method": "AlphaFold", "type": "alphafold", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/AF-P04637-F1.pdb", "url_external": "https://alphafold.ebi.ac.uk/entry/P04637" }, { "pdb_id": "3d06", "pdb_chain": "a", 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