{ "uniprot_canonical_ac": "P05546-1", "uniprot_ac": "P05546", "uniprot_id": "HEP2_HUMAN", "mass": { "chemical_mass": 57071.0, "monoisotopic_mass": 57071.0 }, "refseq": { "ac": "NP_000176", "name": "heparin cofactor 2 precursor", "summary": "This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000176" }, "gene_names": [ { "name": "SERPIND1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05546", "id": "P05546" }, { "name": "D22S673; HC2; HCF2; HCII; HLS2; LS2; THPH10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000176", "id": "NP_000176" }, { "name": "HCF2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05546", "id": "P05546" }, { "name": "SERPIND1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000176", "id": "NP_000176" } ], "protein_names": [ { "name": "Heparin cofactor 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05546" }, { "name": "HC-II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05546" }, { "name": "HLS2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05546" }, { "name": "Heparin cofactor II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05546" }, { "name": "Protease inhibitor leuserpin-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05546" }, { "name": "Serpin D1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05546" }, { "name": "heparin cofactor 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000176", "id": "NP_000176" }, { "name": "serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1; leuserpin 2; heparin cofactor 2; serpin D1; protease inhibitor leuserpin-2; serpin peptidase inhibitor, clade D (heparin cofactor), member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000176", "id": "NP_000176" } ], "function": [ { "annotation": "Identification and characterization of a novel isoform of heparin cofactor II in human liver.", "evidence": [ { "database": "RefSeq", "id": "NP_000176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000176" }, { "database": "PubMed", "id": "32827448", "url": "https://glygen.org/publication/PubMed/32827448" } ] }, { "annotation": "Loss of Heparin Cofactor is associated with insulin resistance .", "evidence": [ { "database": "RefSeq", "id": "NP_000176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000176" }, { "database": "PubMed", "id": "28502917", "url": "https://glygen.org/publication/PubMed/28502917" } ] }, { "annotation": "Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils.", "evidence": [ { "database": "UniProtKB", "id": "P05546", "url": "https://www.uniprot.org/uniprot/P05546#function" }, { "database": "PubMed", "id": "1939083", "url": "https://glygen.org/publication/PubMed/1939083" } ] }, { "annotation": "Plasma Heparin Cofactor II Activity Is Inversely Associated with Hepatic Fibrosis of Non-Alcoholic Fatty Liver Disease in Patients with Type 2 Diabetes Mellitus.", "evidence": [ { "database": "RefSeq", "id": "NP_000176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000176" }, { "database": "PubMed", "id": "36244745", "url": "https://glygen.org/publication/PubMed/36244745" } ] }, { "annotation": "The plasma level of alpha2M was found positively correlated, while HCII level was negatively correlated with higher vulnerability of carotid plaques. Both proteins were efficient in differentiating stable and vulnerable carotid plaques. These provide potential new targets for the research of carotid plaque vulnerability. Plasma alpha2M and HCII may be potential biomarkers for evaluation of the vulnerability of carotid ...", "evidence": [ { "database": "RefSeq", "id": "NP_000176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000176" }, { "database": "PubMed", "id": "28087279", "url": "https://glygen.org/publication/PubMed/28087279" } ] }, { "annotation": "This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_000176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000176" } ] }, { "annotation": "Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner.", "evidence": [ { "database": "UniProtKB", "id": "P05546", "url": "https://www.uniprot.org/uniprot/P05546#function" }, { "database": "PubMed", "id": "1939083", "url": "https://glygen.org/publication/PubMed/1939083" } ] } ], "disease": [ { "disease_id": "DOID:0111901", "recommended_name": { "id": "DOID:0111901", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111901", "name": "heparin cofactor II deficiency", "description": "A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21." }, "synonyms": [ { "id": "DOID:0111901", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111901", "name": "THPH10", "description": "" }, { "id": "DOID:0111901", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111901", "name": "HCF 2 deficiency", "description": "" }, { "id": "DOID:0111901", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111901", "name": "HCF II deficiency", "description": "" }, { "id": "DOID:0111901", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111901", "name": "thrombophilia due to heparin cofactor II deficiency", "description": "" }, { "id": "MONDO:0012876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012876", "name": "heparin cofactor 2 deficiency", "description": "" }, { "id": "MONDO:0012876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012876", "name": "heparin cofactor 2 deficiency", "description": "" }, { "id": "MONDO:0012876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012876", "name": "thrombophilia 10 due to heparin cofactor II deficiency", "description": "" }, { "id": "MONDO:0012876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012876", "name": "Hcf 2 deficiency", "description": "" }, { "id": "MONDO:0012876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012876", "name": "Hcf2 deficiency", "description": "" }, { "id": "MONDO:0012876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012876", "name": "heparin cofactor II deficiency", "description": "" }, { "id": "MONDO:0012876", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012876", "name": "thrombophilia due to heparin cofactor 2 deficiency", "description": "" }, { "id": "MIM:612356", "resource": "MIM", "url": "https://www.omim.org/entry/612356", "name": "Thrombophilia due to heparin cofactor 2 deficiency", "description": "Thrombophilia due to heparin cofactor 2 deficiency" } ], "evidence": [ { "id": "612356", "database": "MIM", "url": "https://www.omim.org/entry/612356" } ] } ], "snv": [ { "evidence": [ { "id": "rs754910028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754910028" }, { "id": "rs754910028", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754910028" }, { "id": "rs754910028", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754910028#frequency_tab" }, { "id": "rs754910028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754910028" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 104, "end_pos": 104, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->K).", "chr_id": "22", "chr_pos": "20779623", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T104", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05546", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05546" }, { "id": "rs754910028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754910028" }, { "id": "rs754910028", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754910028" }, { "id": "rs754910028", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754910028" }, { "id": "rs754910028", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754910028#frequency_tab" }, { "id": "rs754910028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754910028" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 104, "end_pos": 104, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->R).", "chr_id": "22", "chr_pos": "20779623", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T104", "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. 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1214123688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214123688" }, { "id": "rs1214123688", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214123688" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 266, "end_pos": 266, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NHI->NHT).", "chr_id": "22", "chr_pos": "20780109", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I266", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1247785389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247785389" }, { "id": "rs1247785389", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1247785389#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 285, "end_pos": 285, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "22", "chr_pos": "20780166", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T285", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1434136764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434136764" }, { "id": "rs1434136764", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434136764" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 303, "end_pos": 303, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKF->NKS).", "chr_id": "22", "chr_pos": "20783990", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F303", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05546", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05546" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 318, "end_pos": 318, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NER->NES).", "chr_id": "22", "chr_pos": "20784036", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R318", "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 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P05546", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05546" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P05546", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05546" } ], "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 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"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": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P05546", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05546" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05546" } ], "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 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"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 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"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": "P05546", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05546" } ], "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": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P05546", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05546" } ], "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": "P05546", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05546" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P05546", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05546" } ], "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": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P05546", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05546" } ], "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": 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"MKHSLNALLIFLIITSAWGGSKGPLDQLEKGGETAQSADPQWEQLNNKNLSMPLLPADFHKENTVTNDWIPEGEEDDDYLDLEKIFSEDDDYIDIVDSLSVSPTDSDVSAGNILQLFHGKSRIQRLNILNAKFAFNLYRVLKDQVNTFDNIFIAPVGISTAMGMISLGLKGETHEQVHSILHFKDFVNASSKYEITTIHNLFRKLTHRLFRRNFGYTLRSVNDLYIQKQFPILLDFKTKVREYYFAEAQIADFSDPAFISKTNNHIMKLTKGLIKDALENIDPATQMMILNCIYFKGSWVNKFPVEMTHNHNFRLNEREVVKVSMMQTKGNFLAANDQELDCDILQLEYVGGISMLIVVPHKMSGMKTLEAQLTPRVVERWQKSMTNRTREVLLPKFKLEKNYNLVESLKLMGIRMLFDKNGNMAGISDQRIAIDLFKHQGTITVNEEGTQATTVTTVGFMPLSTQVRFTVDRPFLFLIYEHRTSCLLFMGRVANPSRS", "length": 499, "header": "sp|P05546-1|HEP2_HUMAN Isoform 1 of Heparin cofactor 2 OS=Homo sapiens OX=9606 GN=SERPIND1 PE=1 SV=3 CANONICAL=P05546-1" }, "isoforms": [ { "isoform_ac": "P05546-1", "url": "", "sequence": { "sequence": "MKHSLNALLIFLIITSAWGGSKGPLDQLEKGGETAQSADPQWEQLNNKNLSMPLLPADFHKENTVTNDWIPEGEEDDDYLDLEKIFSEDDDYIDIVDSLSVSPTDSDVSAGNILQLFHGKSRIQRLNILNAKFAFNLYRVLKDQVNTFDNIFIAPVGISTAMGMISLGLKGETHEQVHSILHFKDFVNASSKYEITTIHNLFRKLTHRLFRRNFGYTLRSVNDLYIQKQFPILLDFKTKVREYYFAEAQIADFSDPAFISKTNNHIMKLTKGLIKDALENIDPATQMMILNCIYFKGSWVNKFPVEMTHNHNFRLNEREVVKVSMMQTKGNFLAANDQELDCDILQLEYVGGISMLIVVPHKMSGMKTLEAQLTPRVVERWQKSMTNRTREVLLPKFKLEKNYNLVESLKLMGIRMLFDKNGNMAGISDQRIAIDLFKHQGTITVNEEGTQATTVTTVGFMPLSTQVRFTVDRPFLFLIYEHRTSCLLFMGRVANPSRS", "length": 499, "header": "sp|P05546-1|HEP2_HUMAN Isoform 1 of Heparin cofactor 2 OS=Homo sapiens OX=9606 GN=SERPIND1 PE=1 SV=3 CANONICAL=P05546-1" }, "locus": { "chromosome": "22", "start_pos": 20787063, "end_pos": 20779313, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000215727.10", "url": "https://www.ensembl.org/id/ENST00000215727.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000215727.5", "url": "https://www.ensembl.org/id/ENSP00000215727.5" } ] } } 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"residue": "Asn", "site_lbl": "Asn188", "evidence": [ { "id": "P05546@N188", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P05546@N188" } ] }, { "glytoucan_ac": "G02030ZB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 188, "start_aa": "Asn", "end_pos": 188, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn188", "evidence": [ { "id": "695", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/695" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G05933EN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 188, "start_aa": "Asn", "end_pos": 188, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn188", "evidence": [ { "id": "P05546@N188", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P05546@N188" } ] }, { "glytoucan_ac": "G06247RL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 188, "start_aa": "Asn", "end_pos": 188, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn188", "evidence": [ { "id": "P05546", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 188, "start_aa": "Asn", "end_pos": 188, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn188", "evidence": [ { "id": "695", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/695" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G24954UD", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 188, "start_aa": "Asn", "end_pos": 188, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn188", "evidence": [ { "id": "695", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/695" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G37881RL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 188, "start_aa": "Asn", "end_pos": 188, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn188", "evidence": [ { "id": "695", "database": "GlyConnect", "url": 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"Expression of the blood-clotting factor-VIII cDNA is repressed by a transcriptional silencer located in its coding region.", "journal": "Blood", "date": "1995", "authors": "Hoeben RC, Fallaux FJ, Cramer SJ, van den Wollenberg DJ, van Ormondt H, Briet E, van der Eb AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "7727775", "url": "https://glygen.org/publication/PubMed/7727775" } ] }, { "title": "The affinity and stoichiometry of binding of human factor VIII to von Willebrand factor.", "journal": "Blood", "date": "1995", "authors": "Vlot AJ, Koppelman SJ, van den Berg MH, Bouma BN, Sixma JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "7756647", "url": "https://glygen.org/publication/PubMed/7756647" } ] }, { "title": "Factor IXa 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Factor IXa inhibits activated protein C-catalyzed cleavage of factor VIIIa at Arg562.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Regan LM, Lamphear BJ, Huggins CF, Walker FJ, Fay PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "8144529", "url": "https://glygen.org/publication/PubMed/8144529" } ] }, { "title": "Biology of factor IX.", "journal": "Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis", "date": "1993", "authors": "Kurachi K, Kurachi S, Furukawa M, Yao SN", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "8148489", "url": "https://glygen.org/publication/PubMed/8148489" } ] }, { "title": "Isolation, cDNA cloning, and overexpression of a 33-kD cell surface glycoprotein that binds to the globular `heads` of C1q.", "journal": "The Journal of experimental medicine", "date": "1994", "authors": "Ghebrehiwet B, Lim BL, Peerschke EI, Willis AC, Reid KB", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "8195709", "url": "https://glygen.org/publication/PubMed/8195709" } ] }, { "title": "Factor XII-independent activation of factor XI in plasma: effects of sulfatides on tissue factor-induced coagulation.", "journal": "Blood", "date": "1993", "authors": "Gailani D, Broze GJ Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "8338946", "url": "https://glygen.org/publication/PubMed/8338946" } ] }, { "title": "Sequencing and cloning of human prolylcarboxypeptidase (angiotensinase C). Similarity to both serine carboxypeptidase and prolylendopeptidase families.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Tan F, Morris PW, Skidgel RA, Erdos EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "8344943", "url": "https://glygen.org/publication/PubMed/8344943" } ] }, { "title": "Activation of the factor VIIIa-factor IXa enzyme complex of blood coagulation by membranes containing phosphatidyl-L-serine.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Gilbert GE, Arena AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "8626656", "url": "https://glygen.org/publication/PubMed/8626656" } ] }, { "title": "Identification of the zinc-dependent endothelial cell binding protein for high molecular weight kininogen and factor XII: identity with the receptor that binds to the globular `heads` of C1q (gC1q-R).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Joseph K, Ghebrehiwet B, Peerschke EI, Reid KB, Kaplan AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "8710908", "url": "https://glygen.org/publication/PubMed/8710908" } ] }, { "title": "Activation and function of human Hageman factor. The role of high molecular weight kininogen and prekallikrein.", "journal": "The Journal of clinical investigation", "date": "1977", "authors": "Meier HL, Pierce JV, Colman RW, Kaplan AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "874082", "url": "https://glygen.org/publication/PubMed/874082" } ] }, { "title": "Measurement of insulin-like growth factor (IGF)-II binding to purified IGF binding proteins 1-6: comparison of charcoal adsorption and high performance size exclusion chromatography.", "journal": "Biochimica et biophysica acta", "date": "1996", "authors": "Bach LA, Rechler MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8781553", "url": "https://glygen.org/publication/PubMed/8781553" } ] }, { "title": "Insulin-like growth factor binding protein (IGFBP) proteases: functional regulators of cell growth.", "journal": "Progress in growth factor research", "date": "1995", "authors": "Rajah R, Katz L, Nunn S, Solberg P, Beers T, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8817670", "url": "https://glygen.org/publication/PubMed/8817670" } ] }, { "title": "Recombinant human insulin-like growth factor (IGF) binding protein-3 stimulates prostate carcinoma cell proliferation via an IGF-dependent mechanism. Role of serine proteases.", "journal": "Growth regulation", "date": "1996", "authors": "Angelloz-Nicoud P, Harel L, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8894645", "url": "https://glygen.org/publication/PubMed/8894645" } ] }, { "title": "Human blood coagulation factor XI. Purification, properties, and mechanism of activation by activated factor XII.", "journal": "The Journal of biological chemistry", "date": "1977", "authors": "Bouma BN, Griffin JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "893417", "url": "https://glygen.org/publication/PubMed/893417" } ] }, { "title": "Isolation and characterization of proteolytic fragments of insulin-like growth factor-binding protein-3.", "journal": "Hormone research", "date": "1996", "authors": "Lalou C, Lassarre C, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8964575", "url": "https://glygen.org/publication/PubMed/8964575" } ] }, { "title": "Identification of functional endothelial protein C receptor in human plasma.", "journal": "The Journal of clinical investigation", "date": "1997", "authors": "Kurosawa S, Stearns-Kurosawa DJ, Hidari N, Esmon CT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "9218519", "url": "https://glygen.org/publication/PubMed/9218519" } ] }, { "title": "High molecular weight kininogen peptides inhibit the formation of kallikrein on endothelial cell surfaces and subsequent urokinase-dependent plasmin formation.", "journal": "Blood", "date": "1997", "authors": "Lin Y, Harris RB, Yan W, McCrae KR, Zhang H, Colman RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9226169", "url": "https://glygen.org/publication/PubMed/9226169" } ] }, { "title": "High molecular weight kininogen regulates prekallikrein assembly and activation on endothelial cells: a novel mechanism for contact activation.", "journal": "Blood", "date": "1998", "authors": "Motta G, Rojkjaer R, Hasan AA, Cines DB, Schmaier AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9427705", "url": "https://glygen.org/publication/PubMed/9427705" } ] }, { "title": "Effects of melagatran, a new low-molecular-weight thrombin inhibitor, on thrombin and fibrinolytic enzymes.", "journal": "Thrombosis and haemostasis", "date": "1998", "authors": "Gustafsson D, Antonsson T, Bylund R, Eriksson U, Gyzander E, Nilsson I, Elg M, Mattsson C, Deinum J, Pehrsson S, Karlsson O, Nilsson A, Sorensen H", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9459334", "url": "https://glygen.org/publication/PubMed/9459334" } ] }, { "title": "Novastan (brand of argatroban): a small-molecule, direct thrombin inhibitor.", "journal": "Seminars in thrombosis and hemostasis", "date": "1997", "authors": "Hursting MJ, Alford KL, Becker JC, Brooks RL, Joffrion JL, Knappenberger GD, Kogan PW, Kogan TP, McKinney AA, Schwarz RP Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9469622", "url": "https://glygen.org/publication/PubMed/9469622" } ] }, { "title": "Insulin-like growth factor (IGF)-binding protein 5 forms an alternative ternary complex with IGFs and the acid-labile subunit.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Twigg SM, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9497324", "url": "https://glygen.org/publication/PubMed/9497324" } ] }, { 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[PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053546", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053546" } ] }, { "name": "heparin cofactor 2 N-glycosylated 3 (human)", "definition": "A heparin cofactor 2 (human) that has been N-glycosylated at the residue equivalent to Asn-49 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P05546-1, Asn-49, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053547", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053547" } ] }, { "name": "heparin cofactor 2 N-glycosylated 4 (human)", "definition": "A heparin cofactor 2 (human) that has been N-glycosylated at the residue equivalent to Asn-49 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P05546-1, Asn-49, MOD:00160~GNO:G06247RL. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053548", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053548" } ] }, { "name": "heparin cofactor 2 N-glycosylated 5 (human)", "definition": "A heparin cofactor 2 (human) that has been N-glycosylated at the residue equivalent to Asn-49 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G41247ZX. Example: UniProtKB:P05546-1, Asn-49, MOD:00160~GNO:G41247ZX. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053549", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053549" } ] }, { "name": "heparin cofactor 2 N-glycosylated 6 (human)", "definition": "A heparin cofactor 2 (human) that has been N-glycosylated at the residue equivalent to Asn-49 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P05546-1, Asn-49, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053550", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053550" } ] }, { "name": "heparin cofactor 2 N-glycosylated 7 (human)", "definition": "A heparin cofactor 2 (human) that has been N-glycosylated at the residue equivalent to Asn-49 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P05546-1, Asn-49, MOD:00160~GNO:G88374WZ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053551", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053551" } ] }, { "name": "heparin cofactor 2 N-glycosylated 8 (human)", "definition": "A heparin cofactor 2 (human) that has been N-glycosylated at the residue equivalent to Asn-49 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G94917XT. Example: UniProtKB:P05546-1, Asn-49, MOD:00160~GNO:G94917XT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053552", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053552" } ] }, { "name": "heparin cofactor 2 O-glycosylated 1 (human)", "definition": "A heparin cofactor 2 (human) that has been O-glycosylated at the residue equivalent to Ser-100 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05546-1, Ser-100, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053553", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053553" } ] }, { "name": "heparin cofactor 2 O-glycosylated 2 (human)", "definition": "A heparin cofactor 2 (human) that has been O-glycosylated at the residue equivalent to Ser-102 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05546-1, Ser-102, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053554", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053554" } ] }, { "name": "heparin cofactor 2 O-glycosylated 3 (human)", "definition": "A heparin cofactor 2 (human) that has been O-glycosylated at the residue equivalent to Ser-102 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P05546-1, Ser-102, MOD:00002~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053555", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053555" } ] }, { "name": "heparin cofactor 2 O-glycosylated 4 (human)", "definition": "A heparin cofactor 2 (human) that has been O-glycosylated at the residue equivalent to Ser-37 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05546-1, Ser-37, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053556", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053556" } ] }, { "name": "heparin cofactor 2 O-glycosylated 5 (human)", "definition": "A heparin cofactor 2 (human) that has been O-glycosylated at the residue equivalent to Ser-51 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P05546-1, Ser-51, MOD:00002~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053557", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053557" } ] }, { "name": "heparin cofactor 2 O-glycosylated 6 (human)", "definition": "A heparin cofactor 2 (human) that has been O-glycosylated at the residue equivalent to Ser-51 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05546-1, Ser-51, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053558", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053558" } ] }, { "name": "heparin cofactor 2 O-glycosylated 7 (human)", "definition": "A heparin cofactor 2 (human) that has been O-glycosylated at the residue equivalent to Thr-104 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P05546-1, Thr-104, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053559", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053559" } ] }, { "name": "heparin cofactor 2 O-glycosylated 8 (human)", "definition": "A heparin cofactor 2 (human) that has been O-glycosylated at the residue equivalent to Thr-104 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05546-1, Thr-104, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053560", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053560" } ] }, { "name": "heparin cofactor 2 O-glycosylated 9 (human)", "definition": "A heparin cofactor 2 (human) that has been O-glycosylated at the residue equivalent to Thr-453 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05546-1, Thr-453, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053561", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053561" } ] }, { "name": "heparin cofactor 2 O-glycosylated 10 (human)", "definition": "A heparin cofactor 2 (human) that has been O-glycosylated at the residue equivalent to Thr-454 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P05546-1, Thr-454, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053562", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053562" } ] }, { "name": "heparin cofactor 2 O-glycosylated 11 (human)", "definition": "A heparin cofactor 2 (human) that has been O-glycosylated at the residue equivalent to Thr-454 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05546-1, Thr-454, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053563", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053563" } ] }, { "name": "heparin cofactor 2 O-glycosylated 12 (human)", "definition": "A heparin cofactor 2 (human) that has been O-glycosylated at the residue equivalent to Thr-457 of the amino acid sequence represented by UniProtKB:P05546-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05546-1, Thr-457, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053564", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053564" } ] } ], "site_annotation": [ { "start_pos": 188, "end_pos": 190, "annotation": "n_glycosylation_sequon" }, { "start_pos": 387, "end_pos": 389, "annotation": "n_glycosylation_sequon" }, { "start_pos": 49, "end_pos": 51, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated by FAM20C in the extracellular medium.", "evidence": [ { "database": "UniProtKB", "id": "P05546", "url": "https://www.uniprot.org/uniprot/P05546" }, { "database": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 49, 188, 387 ], "o_linked_sites": [ 31, 37, 51, 100, 102, 104, 285, 328, 453, 454, 457 ], "snv_sites": [ 37, 48, 104, 266, 285, 303, 318, 387, 389, 404, 425, 447, 453, 454, 457, 482 ], "glycation_sites": [], "phosphorylation_sites": [ 37 ], "sequon_annotation_sites": [ { "start_pos": 188, "end_pos": 190 }, { "start_pos": 387, "end_pos": 389 }, { "start_pos": 49, "end_pos": 51 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 54 }, { "field": "total_sites", "count": 14 }, { "field": "n_linked_glycans", "count": 27 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 5 }, { "field": "o_linked_glycan_sites", "count": 11 } ], "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": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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_with_glycan", "table_stats": [ { "field": "total", "count": 51 }, { "field": "total_sites", "count": 13 }, { "field": "n_linked_glycans", "count": 27 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 5 }, { "field": "o_linked_glycan_sites", "count": 11 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 18 }, { "field": "total_sites", "count": 16 } ], "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": 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": "snv_non_disease", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 13 } ], "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": 189 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }