{ "uniprot_canonical_ac": "P39948-1", "uniprot_ac": "P39948", "uniprot_id": "CCND1_RAT", "mass": { "chemical_mass": 33483.0, "monoisotopic_mass": 33483.0 }, "refseq": { "ac": "XP_008758390", "name": "G1/S-specific cyclin-D1 isoform X1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_008758390" }, "gene_names": [ { "name": "Ccnd1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P39948", "id": "P39948" }, { "name": "Ccnd1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_008758390", "id": "XP_008758390" } ], "protein_names": [ { "name": "G1/S-specific cyclin-D1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P39948" }, { "name": "G1/S-specific cyclin-D1 isoform X1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_008758390", "id": "XP_008758390" }, { "name": "G1/S-specific cyclin-D1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_741989", "id": "NP_741989" } ], "function": [ { "annotation": "Effects of Bisphenol A Exposure during Pregnancy and lactation on Hippocampal Function in Newborn Rats. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_741989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_741989" }, { "database": "PubMed", "id": "32714078", "url": "https://glygen.org/publication/PubMed/32714078" } ] }, { "annotation": "Extracellular vesicles from neurons promote neural induction of stem cells through cyclin D1.", "evidence": [ { "database": "RefSeq", "id": "NP_741989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_741989" }, { "database": "PubMed", "id": "34309628", "url": "https://glygen.org/publication/PubMed/34309628" } ] }, { "annotation": "Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also a substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D1/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. Exhibits transcriptional corepressor activity with INSM1 on the NEUROD1 and INS promoters in a cell cycle-independent manner.", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948#function" }, { "database": "UniProtKB", "id": "P24385", "url": "https://www.uniprot.org/uniprot/P24385#function" } ] }, { "annotation": "Sublytic C5b-9 induces glomerular mesangial cell proliferation via ERK1/2-dependent SOX9 phosphorylation and acetylation by enhancing Cyclin D1 in rat Thy-1 nephritis.", "evidence": [ { "database": "RefSeq", "id": "NP_741989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_741989" }, { "database": "PubMed", "id": "33811247", "url": "https://glygen.org/publication/PubMed/33811247" } ] }, { "annotation": "Ubiquitin-specific protease 2 regulates Ang -induced cardiac fibroblasts activation by up-regulating cyclin D1 and stabilizing beta-catenin in vitro.", "evidence": [ { "database": "RefSeq", "id": "NP_741989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_741989" }, { "database": "PubMed", "id": "33314748", "url": "https://glygen.org/publication/PubMed/33314748" } ] } ], "disease": [ { "disease_id": "DOID:0050746", "recommended_name": { "id": "DOID:0050746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050746", "name": "mantle cell lymphoma", "description": "A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles." }, "synonyms": [], "evidence": [ { "id": "0050746", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050746" } ] }, { "disease_id": "DOID:0050865", "recommended_name": { "id": "DOID:0050865", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue." }, "synonyms": [], "evidence": [ { "id": "0050865", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ] }, { "disease_id": "DOID:0050912", "recommended_name": { "id": "DOID:0050912", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050912", "name": "colon adenoma", "description": "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." }, "synonyms": [], "evidence": [ { "id": "0050912", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050912" } ] }, { "disease_id": "DOID:0060060", "recommended_name": { "id": "DOID:0060060", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060060", "name": "non-Hodgkin lymphoma", "description": "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma." }, "synonyms": [ { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, non-Hodgkin, familial", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, follicular, somatic", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, non-Hodgkin", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, non-Hodgkin, familial", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, non-Hodgkin, somatic", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "non-Hodgkin lymphoma", "description": "" }, { "id": "MIM:605027", "resource": "MIM", "url": "https://www.omim.org/entry/605027", "name": "Familial non-Hodgkin lymphoma", "description": "Familial non-Hodgkin lymphoma" } ], "evidence": [ { "id": "0060060", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060060" } ] }, { "disease_id": "DOID:0060074", "recommended_name": { "id": "DOID:0060074", "resource": "Disease Ontology", "url": "http://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": [], "evidence": [ { "id": "0060074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": 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"https://www.alliancegenome.org/disease/DOID:3069" } ] }, { "disease_id": "DOID:3070", "recommended_name": { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine." }, "synonyms": [ { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "malignant glioma", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "Neuroglial tumor", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "glial cell tumor", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "glioma, malignant", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "malignant Neuroglial tumor", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma susceptibility 1", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "GLM1", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioblastoma, somatic", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma susceptibility 1", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma susceptibility 1, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma, susceptibility to, somatic", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "astrocytoma", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "ependymoma", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioblastoma multiforme", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma of brain, familial", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "oligodendroglioma", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "subependymoma", "description": "" }, { "id": "MIM:137800", "resource": "MIM", "url": "https://www.omim.org/entry/137800", "name": "Glioma 1", "description": "Glioma 1" } ], "evidence": [ { "id": "3070", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ] }, { "disease_id": "DOID:3457", "recommended_name": { "id": "DOID:3457", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated." }, "synonyms": [ { "id": "DOID:3457", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3457", "name": "Lobular carcinoma", "description": "" }, { "id": "DOID:3457", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3457", "name": "Lobular carcinoma of breast", "description": "" }, { "id": "DOID:3457", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3457", "name": "Lobular carcinoma of the breast", "description": "" } ], "evidence": [ { "id": "3457", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ] }, { "disease_id": "DOID:3498", "recommended_name": { "id": "DOID:3498", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells." }, "synonyms": [ { "id": "DOID:3498", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3498", "name": "ductal adenocarcinoma of the pancreas", "description": "" } ], "evidence": [ { "id": "3498", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "evidence": [ { "id": "3571", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:3587", "recommended_name": { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct." }, "synonyms": [ { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "malignant neoplasm of duct of Wirsung", "description": "" }, { "id": "DOID:3587", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3587", "name": "pancreatic duct cancer", "description": "" } ], "evidence": [ { "id": "3587", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ] }, { "disease_id": "DOID:3907", "recommended_name": { "id": "DOID:3907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." }, "synonyms": [ { "id": "DOID:3907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3907", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "evidence": [ { "id": "3907", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ] }, { "disease_id": "DOID:3908", "recommended_name": { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma." }, "synonyms": [ { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "NSCLC", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "Non-small cell lung cancer", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "non-small cell lung carcinoma", "description": "" } ], "evidence": [ { "id": "3908", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ] }, { "disease_id": "DOID:3910", "recommended_name": { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3910", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ] }, { "disease_id": "DOID:3969", "recommended_name": { "id": "DOID:3969", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3969", "name": "thyroid gland papillary 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": "http://disease-ontology.org/term/DOID:3969", "name": "Papillary carcinoma of the Thyroid gland", "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": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "familial nonmedullary thyroid cancer, papillary", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "nonmedullary thyroid carcinoma, papillary", "description": "" }, { "id": "MONDO:0008567", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008567", "name": "papillary carcinoma of thyroid", "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" } ], "evidence": [ { "id": "3969", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ] }, { "disease_id": "DOID:4001", "recommended_name": { "id": "DOID:4001", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary." }, "synonyms": [], "evidence": [ { "id": "4001", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ] }, { "disease_id": "DOID:4074", "recommended_name": { "id": "DOID:4074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:4074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4074", "name": "pancreas adenocarcinoma", "description": "" } ], "evidence": [ { "id": "4074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ] }, { "disease_id": "DOID:4450", "recommended_name": { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:4450", "name": "RCC", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "adenocarcinoma of kidney", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://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": "" } ], "evidence": [ { "id": "4450", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ] }, { "disease_id": "DOID:4926", "recommended_name": { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:4926", "name": "Bronchioalveolar lung carcinoma", "description": "" }, { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4926", "name": "Bronchioloalveolar carcinoma", "description": "" }, { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4926", "name": "Minimally Invasive Lung Adenocarcinoma", "description": "" } ], "evidence": [ { "id": "4926", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ] }, { "disease_id": "DOID:5409", "recommended_name": { "id": "DOID:5409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell lung carcinoma", "description": "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure." }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "SCLC", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma (morphologic abnormality)", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "poorly differentiated endocrine neoplasm", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung oat cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung small cell carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "lung small cell neuroendocrine carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "oat cell lung carcinoma", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell cancer of the lung, somatic", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell lung cancer", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell neuroendocrine carcinoma of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell neuroendocrine carcinoma of the lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small-cell cancer of lung", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "SCLC1", "description": "" }, { "id": "MONDO:0008433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008433", "name": "small cell cancer of the lung", "description": "" } ], "evidence": [ { "id": "5409", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ] }, { "disease_id": "DOID:5520", "recommended_name": { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:5520", "name": "carcinoma of the head and neck", "description": "" }, { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "squamous cell carcinoma of the head and neck", "description": "" }, { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://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": "squamous cell carcinomas of head and neck", "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" } ], "evidence": [ { "id": "5520", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ] }, { "disease_id": "DOID:6827", "recommended_name": { "id": "DOID:6827", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6827", "name": "pancreatic solid pseudopapillary carcinoma", "description": "A pancreatic carcinoma that is characterized by its papillary architecture." }, "synonyms": [], "evidence": [ { "id": "6827", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6827" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://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": "http://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": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "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": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "disease_id": "DOID:8991", "recommended_name": { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix." }, "synonyms": [ { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "CIN III", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "CIN III - carcinoma in situ of cervix", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "CIN III - severe dyskaryosis", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "Cervix Ca in situ", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "Severe Dysplasia of the Cervix Uteri", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "Severe dysplasia of cervix", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "cervical intraepithelial neoplasia grade III with severe dysplasia", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "carcinoma in situ of cervix", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "carcinoma in situ of uterine cervix", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "carcinoma of cervix stage 0", "description": "" }, { "id": "DOID:8991", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8991", "name": "squamous intraepithelial neoplasia, grade III", "description": "" } ], "evidence": [ { "id": "8991", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ] }, { "disease_id": "DOID:9119", "recommended_name": { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:9119", "name": "AML - acute Myeloid Leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "Leukemia, Myelocytic, acute", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloblastic leukaemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloblastic leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myelogenous leukaemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myelogenous leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://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 leukaemia", "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 leukaemia", "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 - acute Myleogenous leukaemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "hematopoeitic - acute Myleogenous leukemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, reduced survival in, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, myelocytic, acute", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "myeloid leukemia, acute", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "myeloid leukemia, acute, M4/M4Eo subtype, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute non lymphoblastic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute non lymphoblastic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myelogenous", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, susceptibility to", "description": "" }, { "id": "MIM:601626", "resource": "MIM", "url": "https://www.omim.org/entry/601626", "name": "Leukemia, acute myelogenous", "description": "Leukemia, acute myelogenous" } ], "evidence": [ { "id": "9119", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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 large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "evidence": [ { "id": "9256", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "http://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": "http://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": "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": "Al amyloidosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "amyloidosis, systemic", "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" } ], "evidence": [ { "id": "9538", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID:9952", "recommended_name": { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts." }, "synonyms": [ { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "ALL", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "precursor lymphoblastic lymphoma/leukemia", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphoblastic leukaemia", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphocytic leukaemia", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lymphoblastic leukemia, acute, with lymphomatous features", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "leukemia, acute lymphoblastic", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lymphoblastic leukemia, acute, with lymphomatous features", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lall", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lymphomatous All", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphocytic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "T-cell acute lymphoblastic leukemia, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, T-cell acute lymphoblastic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, T-cell acute lymphocytic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphocytic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "ALL", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "All1", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, B-cell acute lymphoblastic, susceptibility to", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, T-cell acute lymphoblastic, 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"expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "common_name": "Rat" } ], "gene": [ { "name": "Ccnd1", "url": "https://www.uniprot.org/uniprot/P39948", "locus": { "chromosome": "1", "start_pos": 200089002, "end_pos": 200098602, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000020918", "url": "https://www.ensembl.org/id/ENSRNOG00000020918" } ] } } ], "crossref": [ { "id": "ENSRNOG00000020918", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000020918", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd20573", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20573", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd20576", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20576", "database": "CDD", "categories": [ "Protein 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"MEHQLLCCEVETIRRAYPDTNLLNDRVLRAMLKTEETCAPSVSYFKCVQREIVPSMRKIVATWMLEVCEEQKCEEEVFPLAMNYLDRFLSLEPLKKSRLQLLGATCMFVASKMKETIPLTAEKLCIYTDNSIRPEELLQMELLLVNKLKWNLAAMTPHDFIEHFLSKMPEADENKQIIRKHAQTFVALCATDVKFISNPPSMVAAGSVVAAMQGLNLGSPNNFLSCYRTTHFLSRVIKCDPDCLRACQEQIEALLESSLRQAQQNIDPKATEEEGEVEEEAGLACTPTDVRDVDI", "length": 295, "header": "sp|P39948-1|CCND1_RAT Isoform 1 of G1/S-specific cyclin-D1 OS=Rattus norvegicus OX=10116 GN=Ccnd1 PE=2 SV=1 CANONICAL=P39948-1" }, "locus": { "chromosome": "1", "start_pos": 200098399, "end_pos": 200091801, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000108193", "url": "https://www.ensembl.org/id/ENSRNOT00000108193" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000083271", "url": "https://www.ensembl.org/id/ENSRNOP00000083271" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 286, "end_pos": 286, "kinase_uniprot_canonical_ac": "P18266-1", "kinase_gene_name": "Gsk3b", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P39948", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P39948" }, { "database": "PubMed", "id": "10910956", "url": "https://glygen.org/publication/PubMed/10910956" } ], "site_lbl": "Thr286" }, { "start_pos": 286, "end_pos": 286, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" }, { "database": "iPTMnet", "id": "P39948", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P39948" }, { "database": "PubMed", "id": "24231000", "url": "https://glygen.org/publication/PubMed/24231000" } ], "site_lbl": "Thr286" } ], "glycation": [], "keywords": [], "publication": [ { "title": "A potential mechanism for fumonisin B(1)-mediated hepatocarcinogenesis: cyclin D1 stabilization associated with activation of Akt and inhibition of GSK-3beta activity.", "journal": "Carcinogenesis", "date": "2000", "authors": "Ramljak D, Calvert RJ, Wiesenfeld PW, Diwan BA, Catipovic B, Marasas WF, Victor TC, Anderson LM, Gelderblom WC", "evidence": [ { "database": "iPTMnet", "id": "P39948", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P39948" } ], "reference": [ { "type": "PubMed", "id": "10910956", "url": "https://glygen.org/publication/PubMed/10910956" } ] }, { "title": "2,3,7,8-Tetrachlorodibenzo-p-dioxin stimulates proliferation of HAPI microglia by affecting the Akt/GSK-3beta/cyclin D1 signaling pathway.", "journal": "Toxicology letters", "date": "2014", "authors": "Xu G, Li Y, Yoshimoto K, Wu Q, Chen G, Iwata T, Mizusawa N, Wan C, Nie X", "evidence": [ { "database": "iPTMnet", "id": "P39948", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P39948" } ], "reference": [ { "type": "PubMed", "id": "24231000", "url": "https://glygen.org/publication/PubMed/24231000" } ] }, { "title": "Effects of Bisphenol A Exposure during Pregnancy and lactation on Hippocampal Function in Newborn Rats.", "journal": "International journal of medical sciences", "date": "2020", "authors": "Wang Y, Du X, Wang D, Wang J, Du J", "evidence": [ { "database": "RefSeq", "id": "NP_741989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_741989" } ], "reference": [ { "type": "PubMed", "id": "32714078", "url": "https://glygen.org/publication/PubMed/32714078" } ] }, { "title": "Ubiquitin-specific protease 2 regulates Ang -induced cardiac fibroblasts activation by up-regulating cyclin D1 and stabilizing beta-catenin in vitro.", "journal": "Journal of cellular and molecular medicine", "date": "2021", "authors": "Xu Q, Liu M, Zhang F, Liu X, Ling S, Chen X, Gu J, Ou W, Liu S, Liu N", "evidence": [ { "database": "RefSeq", "id": "NP_741989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_741989" } ], "reference": [ { "type": "PubMed", "id": "33314748", "url": "https://glygen.org/publication/PubMed/33314748" } ] }, { "title": "Sublytic C5b-9 induces glomerular mesangial cell proliferation via ERK1/2-dependent SOX9 phosphorylation and acetylation by enhancing Cyclin D1 in rat Thy-1 nephritis.", "journal": "Experimental & molecular medicine", "date": "2021", "authors": "Xie M, Wu Z, Ying S, Liu L, Zhao C, Yao C, Zhang Z, Luo C, Wang W, Zhao D, Zhang J, Qiu W, Wang Y", "evidence": [ { "database": "RefSeq", "id": "NP_741989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_741989" } ], "reference": [ { "type": "PubMed", "id": "33811247", "url": "https://glygen.org/publication/PubMed/33811247" } ] }, { "title": "Extracellular vesicles from neurons promote neural induction of stem cells through cyclin D1.", "journal": "The Journal of cell biology", "date": "2021", "authors": "Song L, Tian X, Schekman R", "evidence": [ { "database": "RefSeq", "id": "NP_741989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_741989" } ], "reference": [ { "type": "PubMed", "id": "34309628", "url": "https://glygen.org/publication/PubMed/34309628" } ] }, { "title": "Calcium modulates the cyclin D1 expression in a rat parathyroid cell line.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1994", "authors": "Miki T., Sakaguchi K., Arnold A., Brandi M.L., Bianchi S., Fabiani S., Muratori M.", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "reference": [ { "type": "PubMed", "id": "7980531", "url": "https://glygen.org/publication/PubMed/7980531" } ] }, { "title": "Cyclin G: a new mammalian cyclin with homology to fission yeast Cig1.", "journal": "Oncogene", "date": "1993", "authors": "Okayama H., Hayakawa T., Shimizu K., Tamura K., Nojima H., Ogiso Y., Jinno S., Nagata A., Kanaoka Y.", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "reference": [ { "type": "PubMed", "id": "8336937", "url": "https://glygen.org/publication/PubMed/8336937" } ] } ], "pathway": [ { "id": "rno:58919", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:58919", "resource": "KEGG Pathway" }, { "id": "R-RNO-187577", "name": 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"description": "PTK6 Regulates Cell Cycle" }, { "id": "R-RNO-8934593", "name": "Regulation of RUNX1 Expression and Activity", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8934593", "resource": "Reactome", "description": "Regulation of RUNX1 Expression and Activity" }, { "id": "R-RNO-8951936", "name": "RUNX3 regulates p14-ARF", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8951936", "resource": "Reactome", "description": "RUNX3 regulates p14-ARF" }, { "id": "R-RNO-9754119", "name": "Drug-mediated inhibition of CDK4/CDK6 activity", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9754119", "resource": "Reactome", "description": "Drug-mediated inhibition of CDK4/CDK6 activity" } ], "orthologs": [ { "uniprot_canonical_ac": "P24385-1", "protein_name": "G1/S-specific cyclin-D1", "gene_name": "CCND1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": 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"id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 10, "go_terms": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "proline-rich region binding", "id": "GO:0070064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070064", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase activator activity", "id": "GO:0061575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061575", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase regulator activity", "id": "GO:0016538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016538", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 48, "go_terms": [ { "name": "response to organic substance", "id": "GO:0010033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010033", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "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": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "positive regulation of G2/M transition of mitotic cell cycle", "id": "GO:0010971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010971", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "neuron 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "mammary gland alveolus development", "id": "GO:0060749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060749", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to UV-A", "id": "GO:0070141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070141", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "re-entry into mitotic cell cycle", "id": "GO:0000320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000320", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell differentiation", "id": "GO:0030857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030857", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "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": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "mammary gland epithelial cell proliferation", "id": "GO:0033598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033598", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "positive regulation of mammary gland epithelial cell proliferation", "id": "GO:0033601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033601", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to leptin", "id": "GO:0044321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044321", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "positive regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0045737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045737", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "mitotic cell cycle phase transition", "id": "GO:0044772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044772", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to organic cyclic compound", "id": "GO:0014070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014070", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "cellular response to organic substance", "id": "GO:0071310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071310", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0000079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000079", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "Leydig cell differentiation", "id": "GO:0033327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033327", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to X-ray", "id": "GO:0010165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to organonitrogen compound", "id": "GO:0010243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010243", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" }, { "name": "response to magnesium ion", "id": "GO:0032026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032026", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "Phosphorylation at Thr-286 by MAP kinases is required for ubiquitination and degradation by the DCX(AMBRA1) complex. It also plays an essential role for recognition by the FBXO31 component of SCF (SKP1-cullin-F-box) protein ligase complex following DNA damage.", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" }, { "database": "PubMed", "id": "P24385", "url": "https://glygen.org/publication/PubMed/P24385" } ] }, { "annotation": "Ubiquitinated at Lys-269 by the DCX(AMBRA1) complex during the transition from G1 to S cell phase, leading to its degradation: ubiquitination is dependent on Thr-286 phosphorylation. The DCX(AMBRA1) complex represents the major regulator of CCND1 stability during the G1/S transition (By similarity). Also ubiquitinated by a SCF (SKP1-CUL1-F-box protein) ubiquitin-protein ligase complex containing FBXO4 and CRYAB (By similarity). Following DNA damage it is ubiquitinated by some SCF (SKP1-cullin-F-box) protein ligase complex containing FBXO31. SCF-type ubiquitination is dependent on Thr-286 phosphorylation. Ubiquitinated also by UHRF2 apparently in a phosphorylation-independent manner. Ubiquitination leads to its degradation and G1 arrest. Deubiquitinated by USP2; leading to its stabilization (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprot/P39948" }, { "database": "PubMed", "id": "P25322", "url": "https://glygen.org/publication/PubMed/P25322" }, { "database": "PubMed", "id": "P24385", "url": "https://glygen.org/publication/PubMed/P24385" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }