{ "uniprot_canonical_ac": "P03372-1", "uniprot_ac": "P03372", "uniprot_id": "ESR1_HUMAN", "mass": { "chemical_mass": 66216.0, "monoisotopic_mass": 66216.0 }, "refseq": { "ac": "NP_000116", "name": "estrogen receptor isoform 1", "summary": "This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000116" }, "gene_names": [ { "name": "ESR1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P03372", "id": "P03372" }, { "name": "ER; Era; ESR; ESRA; ESTRR; NR3A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000116", "id": "NP_000116" }, { "name": "ESR1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000116", "id": "NP_000116" }, { "name": "ESR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P03372", "id": "P03372" }, { "name": "NR3A1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P03372", "id": "P03372" }, { "name": "estrogen receptor", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P03372", "id": "P03372" } ], "protein_names": [ { "name": "Estrogen receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P03372" }, { "name": "ER-alpha; estradiol receptor; nuclear receptor subfamily 3 group A member 1; estrogen nuclear receptor alpha; estrogen receptor alpha E1-E2-1-2; estrogen receptor alpha E1-N2-E2-1-2; oestrogen receptor alpha; E2 receptor alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000116", "id": "NP_000116" }, { "name": "ER-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P03372" }, { "name": "ER", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P03372" }, { "name": "Estradiol receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P03372" }, { "name": "Nuclear receptor subfamily 3 group A member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P03372" }, { "name": "estrogen receptor isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000116", "id": "NP_000116" } ], "function": [ { "annotation": "Circulating ESR1, long non-coding RNA HOTAIR and microRNA-130a gene expression as biomarkers for breast cancer stage and metastasis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000116", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000116" }, { "database": "PubMed", "id": "38114755", "url": "https://glygen.org/publication/PubMed/38114755" } ] }, { "annotation": "Correlation between ESR1 and APOE gene polymorphisms and risk of osteonecrosis of the femoral head: a case-control study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000116", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000116" }, { "database": "PubMed", "id": "38102657", "url": "https://glygen.org/publication/PubMed/38102657" } ] }, { "annotation": "Increasing expression of STING by ERalpha antagonizes LCN2 downregulation during chronic endometritis.", "evidence": [ { "database": "RefSeq", "id": "NP_000116", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000116" }, { "database": "PubMed", "id": "37952294", "url": "https://glygen.org/publication/PubMed/37952294" } ] }, { "annotation": "Involved in activation of NOS3 and endothelial nitric oxide production (PubMed:21937726). Isoforms lacking one or several functional domains are thought to modulate transcriptional activity by competitive ligand or DNA binding and/or heterodimerization with the full-length receptor (PubMed:10970861). Binds to ERE and inhibits isoform 1 (PubMed:10970861).", "evidence": [ { "database": "UniProtKB", "id": "P03372", "url": "https://www.uniprot.org/uniprot/P03372#function" }, { "database": "PubMed", "id": "10970861", "url": "https://glygen.org/publication/PubMed/10970861" }, { "database": "PubMed", "id": "21937726", "url": "https://glygen.org/publication/PubMed/21937726" } ] }, { "annotation": "Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA-binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE-independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial association with multiprotein coactivator complexes through LXXLL motifs of their respective components. Mutual transrepression occurs between the estrogen receptor (ER) and NF-kappa-B in a cell-type specific manner. Decreases NF-kappa-B DNA-binding activity and inhibits NF-kappa-B-mediated transcription from the IL6 promoter and displace RELA/p65 and associated coregulators from the promoter. Recruited to the NF-kappa-B response element of the CCL2 and IL8 promoters and can displace CREBBP. Present with NF-kappa-B components RELA/p65 and NFKB1/p50 on ERE sequences. Can also act synergistically with NF-kappa-B to activate transcription involving respective recruitment adjacent response elements; the function involves CREBBP. Can activate the transcriptional activity of TFF1. Also mediates membrane-initiated estrogen signaling involving various kinase cascades. Essential for MTA1-mediated transcriptional regulation of BRCA1 and BCAS3 (PubMed:17922032).", "evidence": [ { "database": "UniProtKB", "id": "P03372", "url": "https://www.uniprot.org/uniprot/P03372#function" }, { "database": "PubMed", "id": "19350539", "url": "https://glygen.org/publication/PubMed/19350539" }, { "database": "PubMed", "id": "18247370", "url": "https://glygen.org/publication/PubMed/18247370" }, { "database": "PubMed", "id": "14764652", "url": "https://glygen.org/publication/PubMed/14764652" }, { "database": "PubMed", "id": "20074560", "url": "https://glygen.org/publication/PubMed/20074560" }, { "database": "PubMed", "id": "16617102", "url": "https://glygen.org/publication/PubMed/16617102" }, { "database": "PubMed", "id": "9328340", "url": "https://glygen.org/publication/PubMed/9328340" }, { "database": "PubMed", "id": "17932106", "url": "https://glygen.org/publication/PubMed/17932106" }, { "database": "PubMed", "id": "17922032", "url": "https://glygen.org/publication/PubMed/17922032" }, { "database": "PubMed", "id": "21330404", "url": "https://glygen.org/publication/PubMed/21330404" }, { "database": "PubMed", "id": "10681512", "url": "https://glygen.org/publication/PubMed/10681512" }, { "database": "PubMed", "id": "11682626", "url": "https://glygen.org/publication/PubMed/11682626" }, { "database": "PubMed", "id": "15891768", "url": "https://glygen.org/publication/PubMed/15891768" }, { "database": "PubMed", "id": "16043358", "url": "https://glygen.org/publication/PubMed/16043358" }, { "database": "PubMed", "id": "11477071", "url": "https://glygen.org/publication/PubMed/11477071" }, { "database": "PubMed", "id": "10816575", "url": "https://glygen.org/publication/PubMed/10816575" }, { "database": "PubMed", "id": "20705611", "url": "https://glygen.org/publication/PubMed/20705611" }, { "database": "PubMed", "id": "16684779", "url": "https://glygen.org/publication/PubMed/16684779" }, { "database": "PubMed", "id": "22083956", "url": "https://glygen.org/publication/PubMed/22083956" }, { "database": "PubMed", "id": "15078875", "url": "https://glygen.org/publication/PubMed/15078875" }, { "database": "PubMed", "id": "7651415", "url": "https://glygen.org/publication/PubMed/7651415" } ] }, { "annotation": "The 5'-UTRs of the E isoforms post-transcriptionally control ERalpha expression mainly through translational repression", "evidence": [ { "database": "RefSeq", "id": "NP_000116", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000116" }, { "database": "PubMed", "id": "23032375", "url": "https://glygen.org/publication/PubMed/23032375" } ] }, { "annotation": "This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_000116", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000116" } ] }, { "annotation": "Upstream open reading frames regulate the translation of the multiple mRNA variants", "evidence": [ { "database": "RefSeq", "id": "NP_000116", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000116" }, { "database": "PubMed", "id": "12147702", "url": "https://glygen.org/publication/PubMed/12147702" } ] } ], "disease": [ { "disease_id": "MONDO:0014148", "recommended_name": { "id": "MONDO:0014148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014148", "name": "estrogen resistance syndrome", "description": "Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present." }, "synonyms": [ { "id": "MONDO:0014148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014148", "name": "ESTRR", "description": "" }, { "id": "MONDO:0014148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014148", "name": "estrogen insensitivity", "description": "" }, { "id": "MONDO:0014148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014148", "name": "estrogen resistance", "description": "" }, { "id": "MONDO:0014148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014148", "name": "oestrogen insensitivity", "description": "" }, { "id": "MONDO:0014148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014148", "name": "oestrogen resistance", "description": "" }, { "id": "MIM:615363", "resource": "MIM", "url": "https://www.omim.org/entry/615363", "name": "Estrogen resistance", "description": "Estrogen resistance" } ], "evidence": [ { "id": "615363", "database": "MIM", "url": "https://www.omim.org/entry/615363" } ] } ], "snv": [ { "evidence": [ { "id": "P03372", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P03372" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->C).", "chr_id": "6", "chr_pos": "151807941", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S10", "disease": [ { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs201145204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201145204" }, { "id": "rs201145204", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201145204" }, { "id": "rs201145204", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201145204" }, { "id": "rs201145204", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201145204#frequency_tab" }, { "id": "rs201145204", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201145204" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 136, "end_pos": 136, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEP->NES).", "chr_id": "6", "chr_pos": "151808318", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000799", "site_lbl": "P136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P03372", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P03372" } ], "glycoeffect": [], "start_pos": 247, "end_pos": 247, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "151880750", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E247", "disease": [ { "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, 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"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 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"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 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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, 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P03372", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03372" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P03372", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03372" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P03372", "url": "http://purl.obolibrary.org/obo/PR_P03372", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1251985", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1251985", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-1257604", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1257604", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2219530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2219530", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5689896", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689896", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6811558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811558", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8866910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866910", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8931987", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8931987", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8939211", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939211", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8939256", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939256", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8939902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939902", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9009391", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9009391", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000116", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000116", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "B0QYW7", "url": "https://www.uniprot.org/uniprot/B0QYW7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QYW7-1", "url": "https://www.uniprot.org/uniprot/B0QYW7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y4W6", "url": "https://www.uniprot.org/uniprot/H0Y4W6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y4W6-1", "url": "https://www.uniprot.org/uniprot/H0Y4W6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P03372", "url": "https://www.uniprot.org/uniprot/P03372", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P03372-1", "url": "https://www.uniprot.org/uniprot/P03372-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P03372-2", "url": "https://www.uniprot.org/uniprot/P03372-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P03372-3", "url": "https://www.uniprot.org/uniprot/P03372-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P03372-4", "url": "https://www.uniprot.org/uniprot/P03372-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5T5H8", "url": "https://www.uniprot.org/uniprot/Q5T5H8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5T5H8-1", "url": "https://www.uniprot.org/uniprot/Q5T5H8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H2M1", "url": "https://www.uniprot.org/uniprot/Q9H2M1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H2M1-1", "url": "https://www.uniprot.org/uniprot/Q9H2M1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H2M2", "url": "https://www.uniprot.org/uniprot/Q9H2M2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H2M2-1", "url": "https://www.uniprot.org/uniprot/Q9H2M2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UE35", "url": "https://www.uniprot.org/uniprot/Q9UE35", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UE35-1", "url": "https://www.uniprot.org/uniprot/Q9UE35-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGVYTFLSSTLKSLEEKDHIHRVLDKITDTLIHLMAKAGLTLQQQHQRLAQLLLILSHIRHMSNKGMEHLYSMKCKNVVPLYDLLLEMLDAHRLHAPTSRGGASVEETDQSHLATAGSTSSHSLQKYYITGEAEGFPATV", "length": 595, "header": "sp|P03372-1|ESR1_HUMAN Isoform 1 of Estrogen receptor OS=Homo sapiens OX=9606 GN=ESR1 PE=1 SV=2 CANONICAL=P03372-1" }, "isoforms": [ { "isoform_ac": "B0QYW7-1", "url": "", "sequence": { "sequence": "HNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSR", "length": 107, "header": "tr|B0QYW7-1|B0QYW7_HUMAN Computationally mapped isoform of Estrogen receptor OS=Homo sapiens OX=9606 GN=ESR1 PE=1 SV=1 CANONICAL=P03372-1" }, "locus": { "chromosome": "6", "start_pos": 152061057, "end_pos": 151880657, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415488.1", "url": "https://www.ensembl.org/id/ENST00000415488.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000401995.1", "url": "https://www.ensembl.org/id/ENSP00000401995.1" } ] } }, { "isoform_ac": "H0Y4W6-1", "url": "", "sequence": { "sequence": "MAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGISHVEAKKRILNLHPKIFGNKWFPRV", "length": 310, "header": "tr|H0Y4W6-1|H0Y4W6_HUMAN Computationally mapped isoform of Estrogen receptor OS=Homo sapiens OX=9606 GN=ESR1 PE=1 SV=2 CANONICAL=P03372-1" }, "locus": {} }, { "isoform_ac": "P03372-1", "url": "", "sequence": { "sequence": "MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGVYTFLSSTLKSLEEKDHIHRVLDKITDTLIHLMAKAGLTLQQQHQRLAQLLLILSHIRHMSNKGMEHLYSMKCKNVVPLYDLLLEMLDAHRLHAPTSRGGASVEETDQSHLATAGSTSSHSLQKYYITGEAEGFPATV", "length": 595, "header": "sp|P03372-1|ESR1_HUMAN Isoform 1 of Estrogen receptor OS=Homo sapiens OX=9606 GN=ESR1 PE=1 SV=2 CANONICAL=P03372-1" }, "locus": { "chromosome": "6", "start_pos": 152098963, "end_pos": 151807913, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000206249.8", "url": "https://www.ensembl.org/id/ENST00000206249.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000206249.3", "url": "https://www.ensembl.org/id/ENSP00000206249.3" } ] } }, { "isoform_ac": "P03372-2", "url": "", "sequence": { "sequence": "MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRPNSDNRRQGGRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGVYTFLSSTLKSLEEKDHIHRVLDKITDTLIHLMAKAGLTLQQQHQRLAQLLLILSHIRHMSNKGMEHLYSMKCKNVVPLYDLLLEMLDAHRLHAPTSRGGASVEETDQSHLATAGSTSSHSLQKYYITGEAEGFPATV", "length": 483, "header": "sp|P03372-2|ESR1_HUMAN Isoform 2 of Estrogen receptor OS=Homo sapiens OX=9606 GN=ESR1 PE=1 SV=2 CANONICAL=P03372-1" }, "locus": {} }, { "isoform_ac": "P03372-3", "url": "", "sequence": { "sequence": "MAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGVYTFLSSTLKSLEEKDHIHRVLDKITDTLIHLMAKAGLTLQQQHQRLAQLLLILSHIRHMSNKGMEHLYSMKCKNVVPLYDLLLEMLDAHRLHAPTSRGGASVEETDQSHLATAGSTSSHSLQKYYITGEAEGFPATV", "length": 422, "header": "sp|P03372-3|ESR1_HUMAN Isoform 3 of Estrogen receptor OS=Homo sapiens OX=9606 GN=ESR1 PE=1 SV=2 CANONICAL=P03372-1" }, "locus": {} }, { "isoform_ac": "P03372-4", "url": "", "sequence": { "sequence": "MAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATNQCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKRSKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGISHVEAKKRILNLHPKIFGNKWFPRV", "length": 310, "header": "sp|P03372-4|ESR1_HUMAN Isoform 4 of Estrogen receptor OS=Homo sapiens OX=9606 GN=ESR1 PE=1 SV=2 CANONICAL=P03372-1" }, "locus": { "chromosome": "6", "start_pos": 152125345, "end_pos": 151842664, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427531.6", "url": "https://www.ensembl.org/id/ENST00000427531.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000394721.2", "url": "https://www.ensembl.org/id/ENSP00000394721.2" } ] } }, { "isoform_ac": "Q5T5H8-1", "url": "", "sequence": { "sequence": "MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGS", "length": 84, "header": "tr|Q5T5H8-1|Q5T5H8_HUMAN Computationally mapped isoform of Estrogen receptor 1 OS=Homo sapiens OX=9606 GN=ESR1 PE=1 SV=1 CANONICAL=P03372-1" }, "locus": { "chromosome": "6", "start_pos": 151808164, "end_pos": 151807913, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000404742.5", "url": "https://www.ensembl.org/id/ENST00000404742.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000385373.1", "url": "https://www.ensembl.org/id/ENSP00000385373.1" } ] } }, { "isoform_ac": "Q9H2M1-1", "url": "", "sequence": { "sequence": "MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNSGVYTFLSSTLKSLEEKDHIHRVLDKITDTLIHLMAKAGLTLQQQHQRLAQLLLILSHIRHMSNKGMEHLYSMKCKNVVPLYDLLLEMLDAHRLHAPTSRGGASVEETDQSHLATAGSTSSHSLQKYYITGEAEGFPATV", "length": 334, "header": "tr|Q9H2M1-1|Q9H2M1_HUMAN Computationally mapped isoform of Estrogen receptor OS=Homo sapiens OX=9606 GN=ESR1 PE=1 SV=1 CANONICAL=P03372-1" }, "locus": { "chromosome": "6", "start_pos": 152098963, "end_pos": 151807913, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000406599.5", "url": "https://www.ensembl.org/id/ENST00000406599.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000384064.1", "url": "https://www.ensembl.org/id/ENSP00000384064.1" } ] } }, { "isoform_ac": "Q9H2M2-1", "url": "", "sequence": { "sequence": "MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFYRT", "length": 152, "header": "tr|Q9H2M2-1|Q9H2M2_HUMAN Computationally mapped isoform of Estrogen receptor alpha OS=Homo sapiens OX=9606 GN=ESR1 PE=1 SV=1 CANONICAL=P03372-1" }, "locus": { "chromosome": "6", "start_pos": 151880658, "end_pos": 151807913, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000456483.3", "url": "https://www.ensembl.org/id/ENST00000456483.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000415934.3", "url": "https://www.ensembl.org/id/ENSP00000415934.3" } ] } }, { "isoform_ac": "Q9UE35-1", "url": "", "sequence": { "sequence": "MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPP", "length": 115, "header": "tr|Q9UE35-1|Q9UE35_HUMAN Computationally mapped isoform of Estrogen receptor protein OS=Homo sapiens OX=9606 GN=ESR1 PE=1 SV=1 CANONICAL=P03372-1" }, "locus": { "chromosome": "6", "start_pos": 151808257, "end_pos": 151807913, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446550.1", "url": "https://www.ensembl.org/id/ENST00000446550.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000411105.1", "url": "https://www.ensembl.org/id/ENSP00000411105.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "predicted", "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine O-GlcNAcylation", "start_pos": 10, "start_aa": "Ser", "end_pos": 10, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser10", "evidence": [ { "id": "P03372", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P03372#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 553, "start_aa": "Thr", "end_pos": 553, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr553", "evidence": [ { "id": "P03372", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P03372" }, { "id": "8999954", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8999954" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "33731348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33731348" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", 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Altered signaling response to estradiol in the IGF-1(m/m) mouse.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Richards RG, Walker MP, Sebastian J, DiAugustine RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9009391", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9009391" } ], "reference": [ { "type": "PubMed", "id": "9565625", "url": "https://glygen.org/publication/PubMed/9565625" } ] }, { "title": "Crystallographic comparison of the estrogen and progesterone receptor's ligand binding domains.", "journal": "Proc. Natl. Acad. Sci. 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"authors": "Karas RH, Gauer EA, Bieber HE, Baur WE, Mendelsohn ME", "evidence": [ { "database": "iPTMnet", "id": "P03372", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P03372" } ], "reference": [ { "type": "PubMed", "id": "9637719", "url": "https://glygen.org/publication/PubMed/9637719" } ] }, { "title": "The TRAP220 component of a thyroid hormone receptor- associated protein (TRAP) coactivator complex interacts directly with nuclear receptors in a ligand-dependent fashion.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Yuan CX, Ito M, Fondell JD, Fu ZY, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "9653119", "url": "https://glygen.org/publication/PubMed/9653119" } ] }, { "title": "c-Myc or cyclin D1 mimics estrogen effects on cyclin E-Cdk2 activation and cell cycle reentry.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Prall OW, Rogan EM, Musgrove EA, Watts CK, Sutherland RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "9671459", "url": "https://glygen.org/publication/PubMed/9671459" } ] }, { "title": "Loss of AP-2 results in downregulation of c-KIT and enhancement of melanoma tumorigenicity and metastasis.", "journal": "The EMBO journal", "date": "1998", "authors": "Huang S, Jean D, Luca M, Tainsky MA, Bar-Eli M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866910" } ], "reference": [ { "type": "PubMed", "id": "9687504", "url": "https://glygen.org/publication/PubMed/9687504" } ] }, { "title": "The role of phosphorylation in human estrogen receptor function.", "journal": "The Journal of steroid 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