{ "uniprot_canonical_ac": "P12272-1", "uniprot_ac": "P12272", "uniprot_id": "PTHR_HUMAN", "mass": { "chemical_mass": 20194.0, "monoisotopic_mass": 20194.0 }, "refseq": { "ac": "NP_002811", "name": "parathyroid hormone-related protein isoform 2 preproprotein", "summary": "The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811" }, "gene_names": [ { "name": "PTHLH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12272", "id": "P12272" }, { "name": "BDE2; HHM; PLP; PTHR; PTHRP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811", "id": "NP_002811" }, { "name": "PTHLH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811", "id": "NP_002811" }, { "name": "PTHRP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12272", "id": "P12272" } ], "protein_names": [ { "name": "Parathyroid hormone-related protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12272" }, { "name": "PLP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12272" }, { "name": "PTH-rP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12272" }, { "name": "PTH-related protein; parathyroid hormone-like hormone preproprotein; osteostatin; parathyroid hormone-like related protein; PTH-rP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811", "id": "NP_002811" }, { "name": "PTHrP[107-139]", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12272" }, { "name": "PTHrP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12272" }, { "name": "Parathyroid hormone-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12272" }, { "name": "parathyroid hormone-related protein isoform 2 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811", "id": "NP_002811" } ], "function": [ { "annotation": "Alternative, in-frame translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG, give rise to nuclear forms of parathyroid hormone-related protein.", "evidence": [ { "database": "RefSeq", "id": "NP_002811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811" }, { "database": "PubMed", "id": "11159841", "url": "https://glygen.org/publication/PubMed/11159841" } ] }, { "annotation": "Exosomal lncRNA HOTAIR promotes osteoclast differentiation by targeting TGF-beta/PTHrP/RANKL pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_002811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811" }, { "database": "PubMed", "id": "36482064", "url": "https://glygen.org/publication/PubMed/36482064" } ] }, { "annotation": "Malignancy-related Hypercalcemia Caused by Metameric Cutaneous Metastasis of Parathyroid Hormone-related Protein-producing Bladder Carcinoma with Squamous Cell Differentiation: An Autopsy Case of Cobb Syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_002811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811" }, { "database": "PubMed", "id": "36858515", "url": "https://glygen.org/publication/PubMed/36858515" } ] }, { "annotation": "Neuroendocrine peptide which is a critical regulator of cellular and organ growth, development, migration, differentiation and survival and of epithelial calcium ion transport. Regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. Required for skeletal homeostasis. Promotes mammary mesenchyme differentiation and bud outgrowth by modulating mesenchymal cell responsiveness to BMPs. Up-regulates BMPR1A expression in the mammary mesenchyme and this increases the sensitivity of these cells to BMPs and allows them to respond to BMP4 in a paracrine and/or autocrine fashion. BMP4 signaling in the mesenchyme, in turn, triggers epithelial outgrowth and augments MSX2 expression, which causes the mammary mesenchyme to inhibit hair follicle formation within the nipple sheath.", "evidence": [ { "database": "UniProtKB", "id": "F5H485", "url": "https://www.uniprot.org/uniprot/F5H485#function" }, { "database": "UniProtKB", "id": "RU368098", "url": "https://www.uniprot.org/uniprot/RU368098#function" }, { "database": "UniProtKB", "id": "F5GZD9", "url": "https://www.uniprot.org/uniprot/F5GZD9#function" }, { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272#function" }, { "database": "PubMed", "id": "20637541", "url": "https://glygen.org/publication/PubMed/20637541" } ] }, { "annotation": "Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.", "evidence": [ { "database": "RefSeq", "id": "NP_002811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811" }, { "database": "PubMed", "id": "34897794", "url": "https://glygen.org/publication/PubMed/34897794" } ] }, { "annotation": "Osteostatin is a potent inhibitor of osteoclastic bone resorption.", "evidence": [ { "database": "UniProtKB", "id": "F5H485", "url": "https://www.uniprot.org/uniprot/F5H485#function" }, { "database": "UniProtKB", "id": "RU368098", "url": "https://www.uniprot.org/uniprot/RU368098#function" }, { "database": "UniProtKB", "id": "F5GZD9", "url": "https://www.uniprot.org/uniprot/F5GZD9#function" }, { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272#function" }, { "database": "PubMed", "id": "20637541", "url": "https://glygen.org/publication/PubMed/20637541" } ] }, { "annotation": "Role of Parathyroid Hormone and Parathyroid Hormone-Related Protein in Protein-Energy Malnutrition. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_002811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811" }, { "database": "PubMed", "id": "37664938", "url": "https://glygen.org/publication/PubMed/37664938" } ] }, { "annotation": "The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_002811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811" } ] }, { "annotation": "Translation initiation from non-AUG (CUG) start sites in the signal sequence, downstream of the initiator AUG codon, target PTHrP molecules exclusively to the nucleoli.", "evidence": [ { "database": "RefSeq", "id": "NP_002811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811" }, { "database": "PubMed", "id": "10873655", "url": "https://glygen.org/publication/PubMed/10873655" } ] } ], "disease": [ { "disease_id": "DOID:0110976", "recommended_name": { "id": "DOID:0110976", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110976", "name": "brachydactyly type E2", "description": "A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p." }, "synonyms": [ { "id": "DOID:0110976", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110976", "name": "BDE2", "description": "" }, { "id": "MONDO:0013244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013244", "name": "brachydactyly type E2", "description": "Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene." }, { "id": "MONDO:0013244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013244", "name": "BDE2", "description": "" }, { "id": "MONDO:0013244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013244", "name": "PTHLH brachydactyly type E", "description": "" }, { "id": "MONDO:0013244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013244", "name": "brachydactyly type E caused by mutation in PTHLH", "description": "" }, { "id": "MONDO:0013244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013244", "name": "brachydactyly type E2", "description": "" }, { "id": "MONDO:0013244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013244", "name": "brachydactyly, type E2", "description": "" }, { "id": "MIM:613382", "resource": "MIM", "url": "https://www.omim.org/entry/613382", "name": "Brachydactyly E2", "description": "Brachydactyly E2" } ], "evidence": [ { "id": "613382", "database": "MIM", "url": "https://www.omim.org/entry/613382" } ] } ], "snv": [ { "evidence": [ { "id": "rs772943331", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772943331" }, { "id": "rs772943331", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772943331" }, { "id": "rs772943331", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772943331" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 108, "end_pos": 108, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "12", "chr_pos": "27963549", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778410945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778410945" }, { "id": "rs778410945", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778410945" }, { "id": "rs778410945", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778410945" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 165, "end_pos": 165, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TST->NST).", "chr_id": "12", "chr_pos": "27963378", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T165", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1262380417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262380417" }, { "id": "rs1262380417", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1262380417#frequency_tab" }, { "id": "rs1262380417", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1262380417" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 167, "end_pos": 167, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "12", "chr_pos": "27963373", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T167", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12272", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12272" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 168, "end_pos": 168, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "27963369", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T168", "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" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs779315594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779315594" }, { "id": "rs779315594", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779315594" }, { "id": "rs779315594", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779315594#frequency_tab" }, { "id": "rs779315594", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779315594" }, { "id": "rs779114545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779114545" }, { "id": "rs779114545", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779114545" }, { "id": "rs779114545", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779114545" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 92, "end_pos": 92, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NHP->NHS).", "chr_id": "12", "chr_pos": "27963598", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P92", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 57, "end_pos": 57, "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly reduced affinity for PTH1R.", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" }, { "database": "PubMed", "id": "19674967", "url": "https://glygen.org/publication/PubMed/19674967" } ] }, { "start_pos": 59, "end_pos": 59, "sequence_org": "F", "sequence_mut": "A", "comment": "Reduced affinity for PTH1R.", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" }, { "database": "PubMed", "id": "19674967", "url": "https://glygen.org/publication/PubMed/19674967" } ] }, { "start_pos": 60, "end_pos": 60, "sequence_org": "L", "sequence_mut": "A", "comment": "Strongly reduced affinity for PTH1R.", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" }, { "database": "PubMed", "id": "19674967", "url": "https://glygen.org/publication/PubMed/19674967" } ] }, { "start_pos": 60, "end_pos": 60, "sequence_org": "L", "sequence_mut": "K", "comment": "Strongly reduced affinity for PTH1R.", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" }, { "database": "PubMed", "id": "19674967", "url": "https://glygen.org/publication/PubMed/19674967" } ] }, { "start_pos": 63, "end_pos": 63, "sequence_org": "L", "sequence_mut": "A", "comment": "Reduced affinity for PTH1R.", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" }, { "database": "PubMed", "id": "19674967", "url": "https://glygen.org/publication/PubMed/19674967" } ] }, { "start_pos": 64, "end_pos": 64, "sequence_org": "I", "sequence_mut": "A", "comment": "Reduced affinity for PTH1R.", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" }, { "database": "PubMed", "id": "19674967", "url": "https://glygen.org/publication/PubMed/19674967" } ] }, { "start_pos": 68, "end_pos": 68, "sequence_org": "H", "sequence_mut": "A", "comment": "Reduced affinity for PTH1R.", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" }, { "database": "PubMed", "id": "19674967", "url": "https://glygen.org/publication/PubMed/19674967" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "54.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087494", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087494" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "45.92", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000087494", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087494" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "62.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087494", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087494" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000087494", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087494" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "74.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087494", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087494" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "70.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087494", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087494" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000087494", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087494" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "71.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087494", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087494" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "59.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087494", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087494" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000087494", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087494" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "41.39", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000087494", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087494" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "63.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087494", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087494" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "70.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087494", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087494" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P12272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12272" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P12272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12272" } ], "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": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P12272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12272" } ], "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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P12272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12272" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P12272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12272" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P12272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12272" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "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 in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P12272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12272" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P12272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12272" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P12272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12272" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P12272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12272" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P12272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12272" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P12272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12272" } ], "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" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "common_name": "Human" } ], "gene": [ { "name": "PTHLH", "url": "https://www.uniprot.org/uniprot/P12272", "locus": { "chromosome": "12", "start_pos": 27958084, "end_pos": 27972733, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000087494", "url": "https://www.ensembl.org/id/ENSG00000087494" } ] } } ], "crossref": [ { "id": "ENSG00000087494", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087494", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P12272", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12272", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL3712869", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3712869", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "PTHLH", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTHLH", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5744", "url": "https://www.ncbi.nlm.nih.gov/gene/5744", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "9607", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9607", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P12272", "url": "https://www.ebi.ac.uk/intact/interactors/id:P12272*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001415", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001415", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003626", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003626", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5744", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5744", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "168470", "url": "http://www.omim.org/entry/168470", "database": "MIM", "categories": [ "Other" ] }, { "id": "613382", "url": "http://www.omim.org/entry/613382", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P12272", "url": "https://www.nextprot.org/entry/NX_P12272", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "LQRWFFA", "url": "https://omabrowser.org/oma/group/LQRWFFA/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5317161at2759", "url": "http://www.orthodb.org/?query=5317161at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR17223", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR17223", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR17223:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR17223:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1BZG", "url": "https://www.rcsb.org/structure/1BZG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1M5N", "url": "https://www.rcsb.org/structure/1M5N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3FFD", "url": "https://www.rcsb.org/structure/3FFD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3H3G", "url": "https://www.rcsb.org/structure/3H3G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7UZO", "url": "https://www.rcsb.org/structure/7UZO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7UZP", "url": "https://www.rcsb.org/structure/7UZP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7VVJ", "url": "https://www.rcsb.org/structure/7VVJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8D51", "url": "https://www.rcsb.org/structure/8D51", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8D52", "url": "https://www.rcsb.org/structure/8D52", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8FLR", "url": "https://www.rcsb.org/structure/8FLR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8HAF", "url": "https://www.rcsb.org/structure/8HAF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01279", "url": "http://pfam.xfam.org/family/PF01279", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P12272", "url": "https://pharos.nih.gov/targets/P12272", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000055025", "url": "https://proconsortium.org/app/entry/PR:000055025", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P12272", "url": "http://purl.obolibrary.org/obo/PR_P12272", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P12272", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "F5GZD9", "url": "https://www.uniprot.org/uniprot/F5GZD9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GZD9-1", "url": "https://www.uniprot.org/uniprot/F5GZD9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H485", "url": "https://www.uniprot.org/uniprot/F5H485", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H485-1", "url": "https://www.uniprot.org/uniprot/F5H485-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12272-1", "url": "https://www.uniprot.org/uniprot/P12272-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12272-2", "url": "https://www.uniprot.org/uniprot/P12272-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12272-3", "url": "https://www.uniprot.org/uniprot/P12272-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSPNSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLDSGVTGSGLEGDHLSDTSTTSLELDSRRH", "length": 177, "header": "sp|P12272-1|PTHR_HUMAN Isoform 1 of Parathyroid hormone-related protein OS=Homo sapiens OX=9606 GN=PTHLH PE=1 SV=1 CANONICAL=P12272-1" }, "isoforms": [ { "isoform_ac": "F5GZD9-1", "url": "", "sequence": { "sequence": "MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSPNSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLDSGVTGSGLEGDHLSDTSTTSLEL", "length": 172, "header": "tr|F5GZD9-1|PTHR_HUMAN Computationally mapped isoform of Parathyroid hormone-related protein OS=Homo sapiens OX=9606 GN=PTHLH PE=1 SV=1 CANONICAL=P12272-1" }, "locus": { "chromosome": "12", "start_pos": 27969494, "end_pos": 27963356, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542963.1", "url": "https://www.ensembl.org/id/ENST00000542963.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000444519.1", "url": "https://www.ensembl.org/id/ENSP00000444519.1" } ] } }, { "isoform_ac": "F5H485-1", "url": "", "sequence": { "sequence": "MSRARAETMQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSPNSKPSPNTKNHPVRFGSDDEGRY", "length": 111, "header": "tr|F5H485-1|PTHR_HUMAN Computationally mapped isoform of Parathyroid hormone-related protein OS=Homo sapiens OX=9606 GN=PTHLH PE=1 SV=1 CANONICAL=P12272-1" }, "locus": { "chromosome": "12", "start_pos": 27970010, "end_pos": 27963563, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000534890.1", "url": "https://www.ensembl.org/id/ENST00000534890.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000445157.1", "url": "https://www.ensembl.org/id/ENSP00000445157.1" } ] } }, { "isoform_ac": "P12272-1", "url": "", "sequence": { "sequence": "MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSPNSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLDSGVTGSGLEGDHLSDTSTTSLELDSRRH", "length": 177, "header": "sp|P12272-1|PTHR_HUMAN Isoform 1 of Parathyroid hormone-related protein OS=Homo sapiens OX=9606 GN=PTHLH PE=1 SV=1 CANONICAL=P12272-1" }, "locus": { "chromosome": "12", "start_pos": 27969494, "end_pos": 27958562, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395872.5", "url": "https://www.ensembl.org/id/ENST00000395872.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000379213.1", "url": "https://www.ensembl.org/id/ENSP00000379213.1" } ] } }, { "isoform_ac": "P12272-2", "url": "", "sequence": { "sequence": "MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSPNSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLDSGVTGSGLEGDHLSDTSTTSLELDSR", "length": 175, "header": "sp|P12272-2|PTHR_HUMAN Isoform 2 of Parathyroid hormone-related protein OS=Homo sapiens OX=9606 GN=PTHLH PE=1 SV=1 CANONICAL=P12272-1" }, "locus": { "chromosome": "12", "start_pos": 27969494, "end_pos": 27963347, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000201015.8", "url": "https://www.ensembl.org/id/ENST00000201015.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000201015.4", "url": "https://www.ensembl.org/id/ENSP00000201015.4" } ] } }, { "isoform_ac": "P12272-3", "url": "", "sequence": { "sequence": "MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSPNSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLDSGVTGSGLEGDHLSDTSTTSLELDSRTALLWGLKKKKENNRRTHHMQLMISLFKSPLLLL", "length": 209, "header": "sp|P12272-3|PTHR_HUMAN Isoform 3 of Parathyroid hormone-related protein OS=Homo sapiens OX=9606 GN=PTHLH PE=1 SV=1 CANONICAL=P12272-1" }, "locus": { "chromosome": "12", "start_pos": 27969494, "end_pos": 27961895, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538310.1", "url": "https://www.ensembl.org/id/ENST00000538310.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000441890.1", "url": "https://www.ensembl.org/id/ENSP00000441890.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "YLTQETNKVETYK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 103, "start_aa": "Tyr", "end_pos": 115, "end_aa": "Lys", "evidence": [ { "id": "P12272", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 108, "start_aa": "Thr", "end_pos": 108, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr108", "evidence": [ { "id": "P12272", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 167, "start_aa": "Thr", "end_pos": 167, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr167", "evidence": [ { "id": "P12272", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "phosphorylation": [ { "start_pos": 108, "end_pos": 108, "kinase_uniprot_canonical_ac": "P06493-1", "kinase_gene_name": "CDK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P12272", "url": "http://phospho.elm.eu.org/byAccession/P12272.html" }, { "database": "iPTMnet", "id": "P12272", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12272" }, { "database": "PubMed", "id": "10373465", "url": "https://glygen.org/publication/PubMed/10373465" } ], "site_lbl": "Thr108" }, { "start_pos": 108, "end_pos": 108, "kinase_uniprot_canonical_ac": "P24941-1", "kinase_gene_name": "CDK2", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12272", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12272" }, { "database": "PubMed", "id": "10373465", "url": "https://glygen.org/publication/PubMed/10373465" } ], "site_lbl": "Thr108" }, { "start_pos": 121, "end_pos": 121, "kinase_uniprot_canonical_ac": "P06493-1", "kinase_gene_name": "CDK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12272", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12272" }, { "database": "PubMed", "id": "10373465", "url": "https://glygen.org/publication/PubMed/10373465" } ], "site_lbl": "Thr121" }, { "start_pos": 121, "end_pos": 121, "kinase_uniprot_canonical_ac": "P24941-1", "kinase_gene_name": "CDK2", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12272", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12272" }, { "database": "PubMed", "id": "10373465", "url": "https://glygen.org/publication/PubMed/10373465" } ], "site_lbl": "Thr121" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "P12272", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "The structure of human parathyroid hormone-related protein(1-34) in near-physiological solution.", "journal": "FEBS Lett.", "date": "1999", "authors": "Weidler M, Marx U C, Seidel G, Sch\u00e4fer W, Hoffmann E, Esswein A, R\u00f6sch P", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "10050767", "url": "https://glygen.org/publication/PubMed/10050767" } ] }, { "title": "Biochemical characterization of Wnt-frizzled interactions using a soluble, biologically active vertebrate Wnt protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Hsieh JC, Rattner A, Smallwood PM, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "10097073", "url": "https://glygen.org/publication/PubMed/10097073" } ] }, { "title": "Phosphorylation at the cyclin-dependent kinases site (Thr85) of parathyroid hormone-related protein negatively regulates its nuclear localization.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Lam MH, House CM, Tiganis T, Mitchelhill KI, Sarcevic B, Cures A, Ramsay R, Kemp BE, Martin TJ, Gillespie MT", "evidence": [ { "database": "iPTMnet", "id": "P12272-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12272-1" } ], "reference": [ { "type": "PubMed", "id": "10373465", "url": "https://glygen.org/publication/PubMed/10373465" } ] }, { "title": "Inefficient function of the signal sequence of PTHrP for targeting into the secretory pathway.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Amizuka N, Fukushi-Irie M, Sasaki T, Oda K, Ozawa H", "evidence": [ { "database": "RefSeq", "id": "NP_002811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811" } ], "reference": [ { "type": "PubMed", "id": "10873655", "url": "https://glygen.org/publication/PubMed/10873655" } ] }, { "title": "Src tyrosine kinase is a novel direct effector of G proteins.", "journal": "Cell", "date": "2000", "authors": "Ma YC, Huang J, Ali S, Lowry W, Huang XY", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "11007482", "url": "https://glygen.org/publication/PubMed/11007482" } ] }, { "title": "Nuclear forms of parathyroid hormone-related peptide are translated from non-AUG start sites downstream from the initiator methionine.", "journal": "Endocrinology", "date": "2001", "authors": "Nguyen M, He B, Karaplis A", "evidence": [ { "database": "RefSeq", "id": "NP_002811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811" } ], "reference": [ { "type": "PubMed", "id": "11159841", "url": "https://glygen.org/publication/PubMed/11159841" } ] }, { "title": "Molecular analysis of the epidermal growth factor-like short consensus repeat domain-mediated protein-protein interactions: dissection of the CD97-CD55 complex.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Lin HH, Stacey M, Saxby C, Knott V, Chaudhry Y, Evans D, Gordon S, McKnight AJ, Handford P, Lea S", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "11297558", "url": "https://glygen.org/publication/PubMed/11297558" } ] }, { "title": "Molecular dissection of the importin beta1-recognized nuclear targeting signal of parathyroid hormone-related protein.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2001", "authors": "Lam M H, Hu W, Xiao C Y, Gillespie M T, Jans D A", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "11401507", "url": "https://glygen.org/publication/PubMed/11401507" } ] }, { "title": "Selective inhibition of heterotrimeric Gs signaling. Targeting the receptor-G protein interface using a peptide minigene encoding the Galpha(s) carboxyl terminus.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Feldman DS, Zamah AM, Pierce KL, Miller WE, Kelly F, Rapacciuolo A, Rockman HA, Koch WJ, Luttrell LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12036966", "url": "https://glygen.org/publication/PubMed/12036966" } ] }, { "title": "Mechanism of Galpha i-mediated inhibition of type V adenylyl cyclase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Dessauer CW, Chen-Goodspeed M, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12058044", "url": "https://glygen.org/publication/PubMed/12058044" } ] }, { "title": "Characterization of the human and mouse genes encoding the tuberoinfundibular peptide of 39 residues, a ligand of the parathyroid hormone receptor family.", "journal": "The Journal of endocrinology", "date": "2002", "authors": "Hansen IA, Jakob O, Wortmann S, Arzberger T, Allolio B, Blind E", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "12098667", "url": "https://glygen.org/publication/PubMed/12098667" } ] }, { "title": "Similarities and differences in the coupling of human beta1- and beta2-adrenoceptors to Gs(alpha) splice variants.", "journal": "Biochemical pharmacology", "date": "2002", "authors": "Wenzel-Seifert K, Liu HY, Seifert R", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12106601", "url": "https://glygen.org/publication/PubMed/12106601" } ] }, { "title": "The pharmacology of cilostazol.", "journal": "Diabetes, obesity & metabolism", "date": "2002", "authors": "Schror K", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12180353", "url": "https://glygen.org/publication/PubMed/12180353" } ] }, { "title": "Molecular basis for the recognition of a nonclassical nuclear localization signal by importin beta.", "journal": "Mol. Cell", "date": "2002", "authors": "Cingolani Gino, Bednenko Janna, Gillespie Matthew T, Gerace Larry", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "12504010", "url": "https://glygen.org/publication/PubMed/12504010" } ] }, { "title": "Minireview: parathyroid hormone-related protein as an intracrine factor -- trafficking mechanisms and functional consequences.", "journal": "Endocrinology", "date": "2003", "authors": "Fiaschi-Taesch Nathalie M, Stewart Andrew F", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "12538599", "url": "https://glygen.org/publication/PubMed/12538599" } ] }, { "title": "Tuberoinfundibular peptide of 39 residues (TIP39): molecular structure and activity for parathyroid hormone 2 receptor.", "journal": "Neuropharmacology", "date": "2003", "authors": "Della Penna K, Kinose F, Sun H, Koblan KS, Wang H", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "12559132", "url": "https://glygen.org/publication/PubMed/12559132" } ] }, { "title": "Parathyroid hormone-related protein (PTHrP): a nucleocytoplasmic shuttling protein with distinct paracrine and intracrine roles.", "journal": "Vitam. Horm.", "date": "2003", "authors": "Jans David A, Thomas Rachel J, Gillespie Matthew T", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "12852260", "url": "https://glygen.org/publication/PubMed/12852260" } ] }, { "title": "Characterization of the 5-HT6 receptor coupled to Ca2+ signaling using an enabling chimeric G-protein.", "journal": "European journal of pharmacology", "date": "2003", "authors": "Zhang JY, Nawoschik S, Kowal D, Smith D, Spangler T, Ochalski R, Schechter L, Dunlop J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12860470", "url": "https://glygen.org/publication/PubMed/12860470" } ] }, { "title": "Fractionation and characterization of a cyclic adenine ribonucleotide formed by tissue particles.", "journal": "The Journal of biological chemistry", "date": "1958", "authors": "SUTHERLAND EW, RALL TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "13549488", "url": "https://glygen.org/publication/PubMed/13549488" } ] }, { "title": "Insights into G protein structure, function, and regulation.", "journal": "Endocrine reviews", "date": "2003", "authors": "Cabrera-Vera TM, Vanhauwe J, Thomas TO, Medkova M, Preininger A, Mazzoni MR, Hamm HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "14671004", "url": "https://glygen.org/publication/PubMed/14671004" } ] }, { "title": "Beta-arrestin2, a novel member of the arrestin/beta-arrestin gene family.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Attramadal H, Arriza JL, Aoki C, Dawson TM, Codina J, Kwatra MM, Snyder SH, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "1517224", "url": "https://glygen.org/publication/PubMed/1517224" } ] }, { "title": "Expression of the largest CD97 and EMR2 isoforms on leukocytes facilitates a specific interaction with chondroitin sulfate on B cells.", "journal": "Journal of leukocyte biology", "date": "2005", "authors": "Kwakkenbos MJ, Pouwels W, Matmati M, Stacey M, Lin HH, Gordon S, van Lier RA, Hamann J", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "15498814", "url": "https://glygen.org/publication/PubMed/15498814" } ] }, { "title": "Effects of piclamilast, a selective phosphodiesterase-4 inhibitor, on oxidative burst of sputum cells from mild asthmatics and stable COPD patients.", "journal": "Lung", "date": "2004", "authors": "Beeh KM, Beier J, Lerch C, Schulz AK, Buhl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "15765929", "url": "https://glygen.org/publication/PubMed/15765929" } ] }, { "title": "Cyclic nucleotide phosphodiesterase-mediated integration of cGMP and cAMP signaling in cells of the cardiovascular system.", "journal": "Frontiers in bioscience : a journal and virtual library", "date": "2005", "authors": "Maurice DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "15769620", "url": "https://glygen.org/publication/PubMed/15769620" } ] }, { "title": "The GAPs, GEFs, and GDIs of heterotrimeric G-protein alpha subunits.", "journal": "International journal of biological sciences", "date": "2005", "authors": "Siderovski DP, Willard FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "15951850", "url": "https://glygen.org/publication/PubMed/15951850" } ] }, { "title": "Preferential inhibition of human phosphodiesterase 4 by ibudilast.", "journal": "Life sciences", "date": "2006", "authors": "Huang Z, Liu S, Zhang L, Salem M, Greig GM, Chan CC, Natsumeda Y, Noguchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "16313925", "url": "https://glygen.org/publication/PubMed/16313925" } ] }, { "title": "Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context.", "journal": "PLoS biology", "date": "2006", "authors": "Mikels AJ, Nusse R", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "16602827", "url": "https://glygen.org/publication/PubMed/16602827" } ] }, { "title": "G-protein-coupled receptor kinase specificity for beta-arrestin recruitment to the beta2-adrenergic receptor revealed by fluorescence resonance energy transfer.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Violin JD, Ren XR, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "16687412", "url": "https://glygen.org/publication/PubMed/16687412" } ] }, { "title": "Structural basis of function in heterotrimeric G proteins.", "journal": "Quarterly reviews of biophysics", "date": "2006", "authors": "Oldham WM, Hamm HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "16923326", "url": "https://glygen.org/publication/PubMed/16923326" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Phosphodiesterase 4 inhibitors for the treatment of asthma and COPD.", "journal": "Current medicinal chemistry", "date": "2006", "authors": "Huang Z, Mancini JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "17168849", "url": "https://glygen.org/publication/PubMed/17168849" } ] }, { "title": "PDE4 inhibitors as potential therapeutic agents in the treatment of COPD-focus on roflumilast.", "journal": "International journal of chronic obstructive pulmonary disease", "date": "2007", "authors": "Boswell-Smith V, Spina D", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "18044684", "url": "https://glygen.org/publication/PubMed/18044684" } ] }, { "title": "Dissociation of heterotrimeric g proteins in cells.", "journal": "Science signaling", "date": "2008", "authors": "Lambert NA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "18577758", "url": "https://glygen.org/publication/PubMed/18577758" } ] }, { "title": "Molecular recognition of corticotropin-releasing factor by its G-protein-coupled receptor CRFR1.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Pioszak AA, Parker NR, Suino-Powell K, Xu HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "18801728", "url": "https://glygen.org/publication/PubMed/18801728" } ] }, { "title": "The efficacy and safety of cilomilast in COPD.", "journal": "Drugs", "date": "2008", "authors": "Rennard S, Knobil K, Rabe KF, Morris A, Schachter N, Locantore N, Canonica WG, Zhu Y, Barnhart F", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "19105585", "url": "https://glygen.org/publication/PubMed/19105585" } ] }, { "title": "A carboxyl-terminal peptide from the parathyroid hormone-related protein inhibits bone resorption by osteoclasts.", "journal": "Endocrinology", "date": "1991", "authors": "Fenton AJ, Kemp BE, Kent GN, Moseley JM, Zheng MH, Rowe DJ, Britto JM, Martin TJ, Nicholson GC", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "1915066", "url": "https://glygen.org/publication/PubMed/1915066" } ] }, { "title": "A potent inhibitor of osteoclastic bone resorption within a highly conserved pentapeptide region of parathyroid hormone-related protein; PTHrP107-111.", "journal": "Endocrinology", "date": "1991", "authors": "Fenton AJ, Kemp BE, Hammonds RG Jr, Mitchelhill K, Moseley JM, Martin TJ, Nicholson GC", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "1954916", "url": "https://glygen.org/publication/PubMed/1954916" } ] }, { "title": "Structural basis for parathyroid hormone-related protein binding to the parathyroid hormone receptor and design of conformation-selective peptides.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Pioszak AA, Parker NR, Gardella TJ, Xu HE", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "19674967", "url": "https://glygen.org/publication/PubMed/19674967" } ] }, { "title": "AN-2728, a PDE4 inhibitor for the potential topical treatment of psoriasis and atopic dermatitis.", "journal": "Current opinion in investigational drugs (London, England : 2000)", "date": "2009", "authors": "Nazarian R, Weinberg JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "19876791", "url": "https://glygen.org/publication/PubMed/19876791" } ] }, { "title": "Ibudilast: a review of its pharmacology, efficacy and safety in respiratory and neurological disease.", "journal": "Expert opinion on pharmacotherapy", "date": "2009", "authors": "Rolan P, Hutchinson M, Johnson K", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "19929708", "url": "https://glygen.org/publication/PubMed/19929708" } ] }, { "title": "Deletion and point mutations of PTHLH cause brachydactyly type E.", "journal": "American journal of human genetics", "date": "2010", "authors": "Klopocki E, Hennig BP, Dathe K, Koll R, de Ravel T, Baten E, Blom E, Gillerot Y, Weigel JF, Kruger G, Hiort O, Seemann P, Mundlos S", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "20170896", "url": "https://glygen.org/publication/PubMed/20170896" } ] }, { "title": "The preclinical pharmacology of roflumilast--a selective, oral phosphodiesterase 4 inhibitor in development for chronic obstructive pulmonary disease.", "journal": "Pulmonary pharmacology & therapeutics", "date": "2010", "authors": "Hatzelmann A, Morcillo EJ, Lungarella G, Adnot S, Sanjar S, Beume R, Schudt C, Tenor H", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "20381629", "url": "https://glygen.org/publication/PubMed/20381629" } ] }, { "title": "PTHrP promotes colon cancer cell migration and invasion in an integrin \u03b16\u03b24-dependent manner through activation of Rac1.", "journal": "Cancer letters", "date": "2010-12-01", "authors": "Mula Ramanjaneya V, Bhatia Vandanajay, Falzon Miriam", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "20637541", "url": "https://glygen.org/publication/PubMed/20637541" } ] }, { "title": "Structural basis for hormone recognition by the Human CRFR2{alpha} G protein-coupled receptor.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Pal K, Swaminathan K, Xu HE, Pioszak AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "20966082", "url": "https://glygen.org/publication/PubMed/20966082" } ] }, { "title": "Ibudilast, a mixed PDE3/4 inhibitor, causes a selective and nitric oxide/cGMP-independent relaxation of the intracranial vertebrobasilar artery.", "journal": "European journal of pharmacology", "date": "2011", "authors": "Yamazaki T, Anraku T, Matsuzawa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "21036126", "url": "https://glygen.org/publication/PubMed/21036126" } ] }, { "title": "beta-Arrestin: a protein that regulates beta-adrenergic receptor function.", "journal": "Science (New York, N.Y.)", "date": "1990", "authors": "Lohse MJ, Benovic JL, Codina J, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2163110", "url": "https://glygen.org/publication/PubMed/2163110" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "P12272", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Pharmacology of the bipyridines: amrinone and milrinone.", "journal": "Circulation", "date": "1986", "authors": "Alousi AA, Johnson DC", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2417744", "url": "https://glygen.org/publication/PubMed/2417744" } ] }, { "title": "Advances in targeting cyclic nucleotide phosphodiesterases.", "journal": "Nature reviews. Drug discovery", "date": "2014", "authors": "Maurice DH, Ke H, Ahmad F, Wang Y, Chung J, Manganiello VC", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "24687066", "url": "https://glygen.org/publication/PubMed/24687066" } ] }, { "title": "Expression of Gs alpha in Escherichia coli. Purification and properties of two forms of the protein.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Graziano MP, Freissmuth M, Gilman AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2491850", "url": "https://glygen.org/publication/PubMed/2491850" } ] }, { "title": "Pharmacology of positive inotropic phosphodiesterase III inhibitors.", "journal": "European heart journal", "date": "1989", "authors": "Honerjager P", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2553411", "url": "https://glygen.org/publication/PubMed/2553411" } ] }, { "title": "Multiple signaling pathways of histamine H2 receptors. Identification of an H2 receptor-dependent Ca2+ mobilization pathway in human HL-60 promyelocytic leukemia cells.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Mitsuhashi M, Mitsuhashi T, Payan DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2553705", "url": "https://glygen.org/publication/PubMed/2553705" } ] }, { "title": "Pentoxifylline for intermittent claudication.", "journal": "The Cochrane database of systematic reviews", "date": "2015", "authors": "Salhiyyah K, Forster R, Senanayake E, Abdel-Hadi M, Booth A, Michaels JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "26417854", "url": "https://glygen.org/publication/PubMed/26417854" } ] }, { "title": "Characterization of the human parathyroid hormone-like peptide gene. Functional and evolutionary aspects.", "journal": "J. Biol. Chem.", "date": "1989", "authors": "Yasuda T, Banville D, Hendy G N, Goltzman D", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "2708388", "url": "https://glygen.org/publication/PubMed/2708388" } ] }, { "title": "Structure of the 5' flanking region of the gene encoding human parathyroid-hormone-related protein (PTHrP).", "journal": "Gene", "date": "1989", "authors": "Suva L J, Mather K A, Gillespie M T, Webb G C, Ng K W, Winslow G A, Wood W I, Martin T J, Hudson P J", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "2744490", "url": "https://glygen.org/publication/PubMed/2744490" } ] }, { "title": "Identification of a cDNA encoding a parathyroid hormone-like peptide from a human tumor associated with humoral hypercalcemia of malignancy.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1988", "authors": "Mangin M, Webb A C, Dreyer B E, Posillico J T, Ikeda K, Weir E C, Stewart A F, Bander N H, Milstone L, Barton D E", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "2829195", "url": "https://glygen.org/publication/PubMed/2829195" } ] }, { "title": "Beta-adrenergic receptor kinase: identification of a novel protein kinase that phosphorylates the agonist-occupied form of the receptor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "Benovic JL, Strasser RH, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2871555", "url": "https://glygen.org/publication/PubMed/2871555" } ] }, { "title": "Parathyroid hormone-related protein purified from a human lung cancer cell line.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1987", "authors": "Moseley J M, Kubota M, Diefenbach-Jagger H, Wettenhall R E, Kemp B E, Suva L J, Rodda C P, Ebeling P R, Hudson P J, Zajac J D", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "2885845", "url": "https://glygen.org/publication/PubMed/2885845" } ] }, { "title": "Isolation and characterization of the human parathyroid hormone-like peptide gene.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1989", "authors": "Mangin M, Ikeda K, Dreyer B E, Broadus A E", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "2928340", "url": "https://glygen.org/publication/PubMed/2928340" } ] }, { "title": "Effect and safety of roflumilast for chronic obstructive pulmonary disease in Chinese patients.", "journal": "Medicine", "date": "2018", "authors": "Liu DY, Wang ZG, Gao Y, Zhang HM, Zhang YX, Wang XJ, Peng D", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "29443750", "url": "https://glygen.org/publication/PubMed/29443750" } ] }, { "title": "Use of cilomilast-loaded phosphatiosomes to suppress neutrophilic inflammation for attenuating acute lung injury: the effect of nanovesicular surface charge.", "journal": "Journal of nanobiotechnology", "date": "2018", "authors": "Liu FC, Yu HP, Lin CY, Elzoghby AO, Hwang TL, Fang JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "29602314", "url": "https://glygen.org/publication/PubMed/29602314" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P12272", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "IL-12/IL-23p40 identified as a downstream target of apremilast in ex vivo models of arthritis.", "journal": "Therapeutic advances in musculoskeletal disease", "date": "2019", "authors": "Kragstrup TW, Adams M, Lomholt S, Nielsen MA, Heftdal LD, Schafer P, Deleuran B", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "30833991", "url": "https://glygen.org/publication/PubMed/30833991" } ] }, { "title": "Isolation and characterization of the human Gs alpha gene.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1988", "authors": "Kozasa T, Itoh H, Tsukamoto T, Kaziro Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "3127824", "url": "https://glygen.org/publication/PubMed/3127824" } ] }, { "title": "Crisaborole 2% ointment for the treatment of intertriginous, anogenital, and facial psoriasis: A double-blind, randomized, vehicle-controlled trial.", "journal": "Journal of the American Academy of Dermatology", "date": "2020", "authors": "Hashim PW, Chima M, Kim HJ, Bares J, Yao CJ, Singer G, Chen T, Genece J, Baum D, Kimmel GW, Nia JK, Gagliotti M, Lebwohl MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "31279028", "url": "https://glygen.org/publication/PubMed/31279028" } ] }, { "title": "Effect of the inhaled PDE4 inhibitor CHF6001 on biomarkers of inflammation in COPD.", "journal": "Respiratory research", "date": "2019", "authors": "Singh D, Beeh KM, Colgan B, Kornmann O, Leaker B, Watz H, Lucci G, Geraci S, Emirova A, Govoni M, Nandeuil MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "31399091", "url": "https://glygen.org/publication/PubMed/31399091" } ] }, { "title": "Simple assessment of quality of life and lower limb functional capacity during cilostazol treatment - results of the SHort-tERm cIlostazol eFFicacy and quality of life (SHERIFF) study.", "journal": "VASA. Zeitschrift fur Gefasskrankheiten", "date": "2020", "authors": "Farkas K, Kolossvary E, Jarai Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "31983287", "url": "https://glygen.org/publication/PubMed/31983287" } ] }, { "title": "Inhaled Phosphodiesterase 4 (PDE4) Inhibitors for Inflammatory Respiratory Diseases.", "journal": "Frontiers in pharmacology", "date": "2020", "authors": "Phillips JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32226383", "url": "https://glygen.org/publication/PubMed/32226383" } ] }, { "title": "Commentary: Phosphodiesterase 4 inhibitors as potential adjunct treatment targeting the cytokine storm in COVID-19.", "journal": "Metabolism: clinical and experimental", "date": "2020", "authors": "Dalamaga M, Karampela I, Mantzoros CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32497535", "url": "https://glygen.org/publication/PubMed/32497535" } ] }, { "title": "Repositioning of pentoxifylline as an immunomodulator and regulator of the renin-angiotensin system in the treatment of COVID-19.", "journal": "Medical hypotheses", "date": "2020", "authors": "Maldonado V, Loza-Mejia MA, Chavez-Alderete J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32540603", "url": "https://glygen.org/publication/PubMed/32540603" } ] }, { "title": "COVID-19 patients with psoriasis and psoriatic arthritis on biologic immunosuppressant therapy vs apremilast in North Spain.", "journal": "Dermatologic therapy", "date": "2020", "authors": "Queiro Silva R, Armesto S, Gonzalez Vela C, Naharro Fernandez C, Gonzalez-Gay MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32618402", "url": "https://glygen.org/publication/PubMed/32618402" } ] }, { "title": "Hypothesis: Pentoxifylline is a potential cytokine modulator therapeutic in COVID-19 patients.", "journal": "Pharmacology research & perspectives", "date": "2020", "authors": "Hendry BM, Stafford N, Arnold AD, Sangwaiya A, Manglam V, Rosen SD, Arnold J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32715661", "url": "https://glygen.org/publication/PubMed/32715661" } ] }, { "title": "Human renal carcinoma expresses two messages encoding a parathyroid hormone-like peptide: evidence for the alternative splicing of a single-copy gene.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1988", "authors": "Thiede M A, Strewler G J, Nissenson R A, Rosenblatt M, Rodan G A", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "3290897", "url": "https://glygen.org/publication/PubMed/3290897" } ] }, { "title": "Pentoxifylline: A Drug with Antiviral and Anti-Inflammatory Effects to Be Considered in the Treatment of Coronavirus Disease 2019.", "journal": "Medical principles and practice : international journal of the Kuwait University, Health Science Centre", "date": "2021", "authors": "Ghasemnejad-Berenji M, Pashapour S, Sadeghpour S", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "33049737", "url": "https://glygen.org/publication/PubMed/33049737" } ] }, { "title": "Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2022", "authors": "Elli FM, Mattinzoli D, Lucca C, Piu M, Maffini MA, Costanza J, Fontana L, Santaniello C, Forino C, Milani D, Bonati MT, Secco A, Gastaldi R, Alfieri C, Messa P, Miozzo M, Arosio M, Mantovani G", "evidence": [ { "database": "RefSeq", "id": "NP_002811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811" } ], "reference": [ { "type": "PubMed", "id": "34897794", "url": "https://glygen.org/publication/PubMed/34897794" } ] }, { "title": "A parathyroid hormone-related protein implicated in malignant hypercalcemia: cloning and expression.", "journal": "Science", "date": "1987", "authors": "Suva LJ, Winslow GA, Wettenhall RE, Hammonds RG, Moseley JM, Diefenbach-Jagger H, Rodda CP, Kemp BE, Rodriguez H, Chen EY, et al.", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" }, { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "3616618", "url": "https://glygen.org/publication/PubMed/3616618" } ] }, { "title": "Exosomal lncRNA HOTAIR promotes osteoclast differentiation by targeting TGF-\u03b2/PTHrP/RANKL pathway.", "journal": "Basic & clinical pharmacology & toxicology", "date": "2022-12-08", "authors": "Zhang Chengcheng, Yang Jiyong, Zhu Zhiyao, Qin Jingru, Yang Lu, Zhao Xiaoxue, Su Wan, Cai Yuejiao, Yang Jia, Wang Fengying, Chen Wenlian, Gu Honggang, Deng Haibin, Wang Zhongqi", "evidence": [ { "database": "RefSeq", "id": "NP_002811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811" } ], "reference": [ { "type": "PubMed", "id": "36482064", "url": "https://glygen.org/publication/PubMed/36482064" } ] }, { "title": "Malignancy-related Hypercalcemia Caused by Metameric Cutaneous Metastasis of Parathyroid Hormone-related Protein-producing Bladder Carcinoma with Squamous Cell Differentiation: An Autopsy Case of Cobb Syndrome.", "journal": "Internal medicine (Tokyo, Japan)", "date": "2023-03-01", "authors": "Matsuzawa Adachi Michiko, Sugawara Hitoshi, Ishii Akira, Chiba Emiko, Hamamoto Kohei, Demitsu Toshio, Yamada Shigeki", "evidence": [ { "database": "RefSeq", "id": "NP_002811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811" } ], "reference": [ { "type": "PubMed", "id": "36858515", "url": "https://glygen.org/publication/PubMed/36858515" } ] }, { "title": "Role of Parathyroid Hormone and Parathyroid Hormone-Related Protein in Protein-Energy Malnutrition.", "journal": "Frontiers in bioscience (Landmark edition)", "date": "2023-08-15", "authors": "Srisuwarn Praopilad, Disthabanchong Sinee", "evidence": [ { "database": "RefSeq", "id": "NP_002811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002811" } ], "reference": [ { "type": "PubMed", "id": "37664938", "url": "https://glygen.org/publication/PubMed/37664938" } ] }, { "title": "The new inotropic phosphodiesterase inhibitors.", "journal": "Archives internationales de physiologie et de biochimie", "date": "1984", "authors": "el Allaf D, D'Orio V, Carlier J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "6085243", "url": "https://glygen.org/publication/PubMed/6085243" } ] }, { "title": "Nucleotide sequence of cloned cDNAs encoding human preproparathyroid hormone.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1981", "authors": "Hendy GN, Kronenberg HM, Potts JT Jr, Rich A", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "6950381", "url": "https://glygen.org/publication/PubMed/6950381" } ] }, { "title": "Identification and functional expression of a receptor selectively recognizing parathyroid hormone, the PTH2 receptor.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Usdin TB, Gruber C, Bonner TI", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "7797535", "url": "https://glygen.org/publication/PubMed/7797535" } ] }, { "title": "A C-terminally truncated human parathyroid hormone receptor is functional and activates multiple G proteins.", "journal": "FEBS letters", "date": "1994", "authors": "Schneider H, Feyen JH, Seuwen K", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8082781", "url": "https://glygen.org/publication/PubMed/8082781" } ] }, { "title": "Cloning and structure of the human corticotrophin releasing factor-binding protein gene (CRHBP)", "journal": "Genomics", "date": "1993", "authors": "Behan DP, Potter E, Lewis KA, Jenkins NA, Copeland N, Lowry PJ, Vale WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8198617", "url": "https://glygen.org/publication/PubMed/8198617" } ] }, { "title": "Polypeptide variants of beta-arrestin and arrestin3.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Sterne-Marr R, Gurevich VV, Goldsmith P, Bodine RC, Sanders C, Donoso LA, Benovic JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "8340388", "url": "https://glygen.org/publication/PubMed/8340388" } ] }, { "title": "Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor.", "journal": "Endocrinology", "date": "1993", "authors": "Schipani E, Karga H, Karaplis AC, Potts JT Jr, Kronenberg HM, Segre GV, Abou-Samra AB, Juppner H", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8386612", "url": "https://glygen.org/publication/PubMed/8386612" } ] }, { "title": "Cloning and functional expression of a human parathyroid hormone receptor.", "journal": "European journal of pharmacology", "date": "1993", "authors": "Schneider H, Feyen JH, Seuwen K, Movva NR", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8397094", "url": "https://glygen.org/publication/PubMed/8397094" } ] }, { "title": "Phosphorylation and desensitization of human m2 muscarinic cholinergic receptors by two isoforms of the beta-adrenergic receptor kinase.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Richardson RM, Kim C, Benovic JL, Hosey MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "8514797", "url": "https://glygen.org/publication/PubMed/8514797" } ] }, { "title": "Corticotropin releasing factor (CRF) binding protein: a novel regulator of CRF and related peptides.", "journal": "Frontiers in neuroendocrinology", "date": "1995", "authors": "Behan DP, De Souza EB, Lowry PJ, Potter E, Sawchenko P, Vale WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8557170", "url": "https://glygen.org/publication/PubMed/8557170" } ] }, { "title": "Cloning and characterization of human urocortin.", "journal": "Endocrinology", "date": "1996", "authors": "Donaldson CJ, Sutton SW, Perrin MH, Corrigan AZ, Lewis KA, Rivier JE, Vaughan JM, Vale WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8612563", "url": "https://glygen.org/publication/PubMed/8612563" } ] }, { "title": "Members of the G protein-coupled receptor kinase family that phosphorylate the beta2-adrenergic receptor facilitate sequestration.", "journal": "Biochemistry", "date": "1996", "authors": "Menard L, Ferguson SS, Barak LS, Bertrand L, Premont RT, Colapietro AM, Lefkowitz RJ, Caron MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "8672451", "url": "https://glygen.org/publication/PubMed/8672451" } ] }, { "title": "G alpha q family members couple parathyroid hormone (PTH)/PTH-related peptide and calcitonin receptors to phospholipase C in COS-7 cells.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1996", "authors": "Offermanns S, Iida-Klein A, Segre GV, Simon MI", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8732687", "url": "https://glygen.org/publication/PubMed/8732687" } ] }, { "title": "The human PTH2 receptor: binding and signal transduction properties of the stably expressed recombinant receptor.", "journal": "Endocrinology", "date": "1996", "authors": "Behar V, Pines M, Nakamoto C, Greenberg Z, Bisello A, Stueckle SM, Bessalle R, Usdin TB, Chorev M, Rosenblatt M, Suva LJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8770894", "url": "https://glygen.org/publication/PubMed/8770894" } ] }, { "title": "The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog.", "journal": "Nature", "date": "1996", "authors": "Stone DM, Hynes M, Armanini M, Swanson TA, Gu Q, Johnson RL, Scott MP, Pennica D, Goddard A, Phillips H, Noll M, Hooper JE, de Sauvage F, Rosenthal A", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8906787", "url": "https://glygen.org/publication/PubMed/8906787" } ] }, { "title": "Parathyroid hormone-related protein-(107-139) inhibits bone resorption in vivo.", "journal": "Endocrinology", "date": "1997", "authors": "Cornish J, Callon K E, Nicholson G C, Reid I R", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "9048639", "url": "https://glygen.org/publication/PubMed/9048639" } ] }, { "title": "The seven-span transmembrane receptor CD97 has a cellular ligand (CD55, DAF).", "journal": "The Journal of experimental medicine", "date": "1996", "authors": "Hamann J, Vogel B, van Schijndel GM, van Lier RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "9064337", "url": "https://glygen.org/publication/PubMed/9064337" } ] }, { "title": "C-terminal parathyroid hormone-related protein inhibits proliferation and differentiation of human osteoblast-like cells.", "journal": "J. Bone Miner. Res.", "date": "1997", "authors": "Mart\u00ednez M E, Garc\u00eda-Oca\u00f1a A, S\u00e1nchez M, Medina S, del Campo T, Valin A, Sanchez-Cabezudo M J, Esbrit P", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "reference": [ { "type": "PubMed", "id": "9144344", "url": "https://glygen.org/publication/PubMed/9144344" } ] }, { "title": "Anagrelide as a new platelet-lowering agent in essential thrombocythemia: mechanism of actin, efficacy, toxicity, current indications.", "journal": "Seminars in thrombosis and hemostasis", "date": "1997", "authors": "Tefferi A, Silverstein MN, Petitt RM, Mesa RA, Solberg LA Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "9263355", "url": "https://glygen.org/publication/PubMed/9263355" } ] }, { "title": "Crystal structure of the catalytic domains of adenylyl cyclase in a complex with Gsalpha.GTPgammaS.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Tesmer JJ, Sunahara RK, Gilman AG, Sprang SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "9417641", "url": "https://glygen.org/publication/PubMed/9417641" } ] }, { "title": "Stimulation of type 1 and type 8 Ca2+/calmodulin-sensitive adenylyl cyclases by the Gs-coupled 5-hydroxytryptamine subtype 5-HT7A receptor.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Baker LP, Nielsen MD, Impey S, Metcalf MA, Poser SW, Chan G, Obrietan K, Hamblin MW, Storm DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "9651336", "url": "https://glygen.org/publication/PubMed/9651336" } ] } ], "pathway": [ { "id": "hsa:5744", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5744", "resource": "KEGG Pathway" }, { "id": "R-HSA-373080", "name": "Class B/2 (Secretin family receptors)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080", "resource": "Reactome", "description": "Class B/2 (Secretin family receptors)" }, { "id": "R-HSA-418555", "name": "G alpha (s) signalling events", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555", "resource": "Reactome", "description": "G alpha (s) signalling events" } ], "orthologs": [ { "uniprot_canonical_ac": "P13085-1", "protein_name": "Parathyroid hormone-related protein", "gene_name": "Pthlh", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLRRLVQQWSVLVFLLSYSVPSRGRSVEGLGRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSPNSKPAPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRREQEKKKRRTRSAWPGTTGSGLLEDPQPHTSPTSTSLEPSSRTH", "length": 177 }, "evidence": [ { "id": "45923566", "url": "http://www.informatics.jax.org/homology/45923566", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P22858-1", "protein_name": "Parathyroid hormone-related protein", "gene_name": "Pthlh", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLRRLVQQWSVLVFLLSYSVPSRGRSVEGLGRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSPNSKPAPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRREQEKKKRRTRSAWPSTAASGLLEDPLPHTSRTSLEPSLRTH", "length": 175 }, "evidence": [ { "id": "45923566", "url": "http://www.informatics.jax.org/homology/45923566", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "peptide hormone receptor binding", "id": "GO:0051428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051428", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 14, "go_terms": [ { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "cAMP metabolic process", "id": "GO:0046058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046058", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "osteoblast development", "id": "GO:0002076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002076", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "regulation of chondrocyte differentiation", "id": "GO:0032330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032330", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte development", "id": "GO:0061182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061182", "evidence": [ { "database": "UniProtKB", "id": "P12272", "url": "https://www.uniprot.org/uniprot/P12272" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "parathyroid hormone-related protein O-glycosylated 1 (human)", "definition": "A parathyroid hormone-related protein (human) that has been O-glycosylated at the residue equivalent to Thr-167 of the amino acid sequence represented by UniProtKB:P12272-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12272-1, Thr-167, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055025", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055025" } ] } ], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 103, 108, 167 ], "snv_sites": [ 92, 108, 165, 167, 168 ], "glycation_sites": [], "phosphorylation_sites": [ 108, 121 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 101 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }