{ "uniprot_canonical_ac": "P34995-1", "uniprot_ac": "P34995", "uniprot_id": "PE2R1_HUMAN", "mass": { "chemical_mass": 41801.0, "monoisotopic_mass": 41801.0 }, "refseq": { "ac": "NP_000946", "name": "prostaglandin E2 receptor EP1 subtype", "summary": "The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000946" }, "gene_names": [ { "name": "PTGER1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P34995", "id": "P34995" }, { "name": "EP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000946", "id": "NP_000946" }, { "name": "PTGER1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000946", "id": "NP_000946" } ], "protein_names": [ { "name": "Prostaglandin E2 receptor EP1 subtype", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P34995" }, { "name": "PGE receptor EP1 subtype", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P34995" }, { "name": "PGE2 receptor EP1 subtype", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P34995" }, { "name": "Prostanoid EP1 receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P34995" }, { "name": "prostaglandin E2 receptor EP1 subtype", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000946", "id": "NP_000946" }, { "name": "prostanoid EP1 receptor; PGE receptor, EP1 subtype; prostaglandin E receptor 1 (subtype EP1), 42kD; prostaglandin E receptor 1, subtype EP1; PGE2 receptor EP1 subtype; prostaglandin E receptor 1 (subtype EP1), 42kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000946", "id": "NP_000946" } ], "function": [ { "annotation": "COX-2 expression appears to be linked to early hepatocellular carcinoma events (initiation), while EP1 receptor expression may participate in tumor progression and predict survival", "evidence": [ { "database": "RefSeq", "id": "NP_000946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000946" }, { "database": "PubMed", "id": "27818595", "url": "https://glygen.org/publication/PubMed/27818595" } ] }, { "annotation": "Copy number variation in PTGER1 is associated with NSAIDs-induced urticaria and/or angioedema", "evidence": [ { "database": "RefSeq", "id": "NP_000946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000946" }, { "database": "PubMed", "id": "26959713", "url": "https://glygen.org/publication/PubMed/26959713" } ] }, { "annotation": "Functional analysis of the mouse counterpart.", "evidence": [ { "database": "RefSeq", "id": "NP_000946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000946" }, { "database": "PubMed", "id": "1160156", "url": "https://glygen.org/publication/PubMed/1160156" } ] }, { "annotation": "No significant differences in EP1 intensity were detected for histological, stage, grading, metastatic and recurrent subtypes in endometrial cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000946" }, { "database": "PubMed", "id": "29134301", "url": "https://glygen.org/publication/PubMed/29134301" } ] }, { "annotation": "Prostaglandin E2 EP receptors in cardiovascular disease: An update. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000946" }, { "database": "PubMed", "id": "34822808", "url": "https://glygen.org/publication/PubMed/34822808" } ] }, { "annotation": "Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues.", "evidence": [ { "database": "UniProtKB", "id": "P34995", "url": "https://www.uniprot.org/uniprot/P34995#function" } ] }, { "annotation": "Suppression of EP1 prevented RAMA-induced FasL suppression in CLT85 cells at both the mRNA and protein levels", "evidence": [ { "database": "RefSeq", "id": "NP_000946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000946" }, { "database": "PubMed", "id": "26211005", "url": "https://glygen.org/publication/PubMed/26211005" } ] }, { "annotation": "The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000946" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1169527743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1169527743" }, { "id": "rs1169527743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1169527743" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLI).", "chr_id": "19", "chr_pos": "14474292", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1473839305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473839305" }, { "id": "rs1473839305", 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"rs1004481673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1004481673" }, { "id": "rs1004481673", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1004481673#frequency_tab" }, { "id": "rs1004481673", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1004481673" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 27, "end_pos": 27, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NT*).", "chr_id": "19", "chr_pos": "14474241", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S27", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1004481673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1004481673" }, { "id": "rs1004481673", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1004481673#frequency_tab" }, { "id": "rs1004481673", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1004481673" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 27, "end_pos": 27, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NTL).", "chr_id": "19", "chr_pos": "14474241", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S27", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1355488959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355488959" }, { "id": "rs1355488959", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1355488959#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 325, "end_pos": 325, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain 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"namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160951", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160951" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "47.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160951", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160951" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "53.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160951", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160951" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": 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in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P34995", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P34995" } ], "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P34995", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P34995" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": 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"https://glygen.org/publication/PubMed/1160156" } ] }, { "title": "Bimatoprost and its free acid are prostaglandin FP receptor agonists.", "journal": "European journal of pharmacology", "date": "2001", "authors": "Sharif NA, Williams GW, Kelly CR", "evidence": [ { "database": "Reactome", "id": "R-HSA-391908", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-391908" } ], "reference": [ { "type": "PubMed", "id": "11740958", "url": "https://glygen.org/publication/PubMed/11740958" } ] }, { "title": "Competing modes of self-association in the regulatory domains of Bruton's tyrosine kinase: intramolecular contact versus asymmetric homodimerization.", "journal": "Protein science : a publication of the Protein Society", "date": "2002", "authors": "Laederach A, Cradic KW, Brazin KN, Zamoon J, Fulton DB, Huang XY, Andreotti AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "11742120", "url": "https://glygen.org/publication/PubMed/11742120" } ] }, { "title": "A unique fold of phospholipase C-beta mediates dimerization and interaction with G alpha q.", "journal": "Nature structural biology", "date": "2002", "authors": "Singer AU, Waldo GL, Harden TK, Sondek J", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "11753430", "url": "https://glygen.org/publication/PubMed/11753430" } ] }, { "title": "Regulators of G-protein signalling as new central nervous system drug targets.", "journal": "Nature reviews. Drug discovery", "date": "2002", "authors": "Neubig RR, Siderovski DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "12120503", "url": "https://glygen.org/publication/PubMed/12120503" } ] }, { "title": "Agonist activity of bimatoprost, travoprost, latanoprost, unoprostone isopropyl ester and other prostaglandin analogs at the cloned human ciliary body FP prostaglandin receptor.", "journal": "Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics", "date": "2002", "authors": "Sharif NA, Kelly CR, Crider JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-391908", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-391908" } ], "reference": [ { "type": "PubMed", "id": "12222762", "url": "https://glygen.org/publication/PubMed/12222762" } ] }, { "title": "Molecular pharmacology of the human prostaglandin D2 receptor, CRTH2.", "journal": "British journal of pharmacology", "date": "2002", "authors": "Sawyer N, Cauchon E, Chateauneuf A, Cruz RP, Nicholson DW, Metters KM, O'Neill GP, Gervais FG", "evidence": [ { "database": "Reactome", "id": "R-HSA-391908", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-391908" } ], "reference": [ { "type": "PubMed", "id": "12466225", "url": "https://glygen.org/publication/PubMed/12466225" } ] }, { "title": "Identification by site-directed mutagenesis of amino acids contributing to ligand-binding specificity or signal transduction properties of the human FP prostanoid receptor.", "journal": "The Biochemical journal", "date": "2003", "authors": "Neuschafer-Rube F, Engemaier E, Koch S, Boer U, Puschel GP", "evidence": [ { "database": "Reactome", "id": "R-HSA-391908", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-391908" } ], "reference": [ { "type": "PubMed", "id": "12519077", "url": 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diversity of the Gqalpha family of heterotrimeric G proteins.", "journal": "Cellular signalling", "date": "2006", "authors": "Hubbard KB, Hepler JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "16182515", "url": "https://glygen.org/publication/PubMed/16182515" } ] }, { "title": "Galphaq binds to p110alpha/p85alpha phosphoinositide 3-kinase and displaces Ras.", "journal": "The Biochemical journal", "date": "2006", "authors": "Ballou LM, Chattopadhyay M, Li Y, Scarlata S, Lin RZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "16268778", "url": "https://glygen.org/publication/PubMed/16268778" } ] }, { "title": "Snapshot of activated G proteins at the membrane: the Galphaq-GRK2-Gbetagamma complex.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Tesmer VM, Kawano T, Shankaranarayanan A, Kozasa T, Tesmer JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "16339447", "url": "https://glygen.org/publication/PubMed/16339447" } ] }, { "title": "Stable association between G alpha(q) and phospholipase C beta 1 in living cells.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Dowal L, Provitera P, Scarlata S", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "16754659", "url": "https://glygen.org/publication/PubMed/16754659" } ] }, { "title": "Structural basis of function in heterotrimeric G proteins.", "journal": "Quarterly reviews of biophysics", "date": "2006", "authors": "Oldham WM, Hamm HE", "evidence": [ { "database": "Reactome", 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