{ "uniprot_canonical_ac": "P04275-1", "uniprot_ac": "P04275", "uniprot_id": "VWF_HUMAN", "mass": { "chemical_mass": 309265.0, "monoisotopic_mass": 309265.0 }, "refseq": { "ac": "NP_000543", "name": "von Willebrand factor preproprotein", "summary": "This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000543" }, "gene_names": [ { "name": "VWF", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04275", "id": "P04275" }, { "name": "F8VWF; VWD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000543", "id": "NP_000543" }, { "name": "F8VWF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04275", "id": "P04275" }, { "name": "VWF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000543", "id": "NP_000543" } ], "protein_names": [ { "name": "von Willebrand factor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04275" }, { "name": "coagulation factor VIII VWF; Factor VIII related antigen", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000543", "id": "NP_000543" }, { "name": "vWF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04275" }, { "name": "von Willebrand antigen II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04275" }, { "name": "von Willebrand factor preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000543", "id": "NP_000543" } ], "function": [ { "annotation": "Coagulation factor VIII regulates von Willebrand factor homeostasis invivo.", "evidence": [ { "database": "RefSeq", "id": "NP_000543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000543" }, { "database": "PubMed", "id": "37726033", "url": "https://glygen.org/publication/PubMed/37726033" } ] }, { "annotation": "Complement C1q and von Willebrand factor interaction in atherosclerosis of human carotid artery. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000543" }, { "database": "PubMed", "id": "38155969", "url": "https://glygen.org/publication/PubMed/38155969" } ] }, { "annotation": "Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma.", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275#function" } ] }, { "annotation": "This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_000543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000543" } ] }, { "annotation": "Von Willebrand factor hyperactivity affects the outcome of lower limb revascularization in subjects with type 2 diabetes mellitus complicated by diabetic foot vasculopathy: An observational pilot study.", "evidence": [ { "database": "RefSeq", "id": "NP_000543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000543" }, { "database": "PubMed", "id": "38039934", "url": "https://glygen.org/publication/PubMed/38039934" } ] }, { "annotation": "Von Willebrand factor is an independent predictor of short-term mortality in acutely ill patients with cirrhosis.", "evidence": [ { "database": "RefSeq", "id": "NP_000543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000543" }, { "database": "PubMed", "id": "37715606", "url": "https://glygen.org/publication/PubMed/37715606" } ] } ], "disease": [ { "disease_id": "DOID:0060573", "recommended_name": { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand's disease 1", "description": "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13." }, "synonyms": [ { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "VWD type 1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "VWD1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand disease type 1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand disease type I", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease 1", "description": "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)." }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease type I", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand's disease type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von willebrand's disease 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VON WILLEBRAND disease, type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD, type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "Von Willebrand disease, type 1", "description": "" }, { "id": "MIM:193400", "resource": "MIM", "url": "https://www.omim.org/entry/193400", "name": "von Willebrand disease 1", "description": "von Willebrand disease 1" } ], "evidence": [ { "id": "193400", "database": "MIM", "url": "https://www.omim.org/entry/193400" } ] }, { "disease_id": "DOID:0060574", "recommended_name": { "id": "DOID:0060574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060574", "name": "von Willebrand's disease 2", "description": "A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13." }, "synonyms": [ { "id": "DOID:0060574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060574", "name": "VWD type 2", "description": "" }, { "id": "DOID:0060574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060574", "name": "VWD2", "description": "" }, { "id": "DOID:0060574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060574", "name": "von Willebrand disease type 2", "description": "" }, { "id": "DOID:0060574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060574", "name": "von Willebrand disease type II", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "von Willebrand disease 2", "description": "Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF)." }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "VWD type 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "VWD2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "von Willebrand disease 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "von Willebrand disease type 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "von Willebrand disease type II", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "von Willebrand disease, types 2A, 2B, 2M, and 2N", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "von Willebrand's disease type 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "von willebrand's disease 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "VON WILLEBRAND disease, type 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "VWD, type 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "Von Willebrand disease, type 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "Von Willebrand disease, type 2A", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "Von Willebrand disease, type 2B", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "Von Willebrand disease, type 2M", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "Von Willebrand disease, type 2N", "description": "" }, { "id": "MIM:613554", "resource": "MIM", "url": "https://www.omim.org/entry/613554", "name": "von Willebrand disease 2", "description": "von Willebrand disease 2" } ], "evidence": [ { "id": "613554", "database": "MIM", "url": "https://www.omim.org/entry/613554" } ] }, { "disease_id": "DOID:0111054", "recommended_name": { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "von Willebrand's disease 3", "description": "A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13." }, "synonyms": [ { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "VWD type 3", "description": "" }, { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "VWD3", "description": "" }, { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "von Willebrand disease type 3", "description": "" }, { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "von Willebrand disease type III", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease 3", "description": "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII)." }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VWD type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VWD3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease type III", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand's disease 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand's disease type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VON WILLEBRAND disease, type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VWD, type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "Von Willebrand disease, type 3", "description": "" }, { "id": "MIM:277480", "resource": "MIM", "url": "https://www.omim.org/entry/277480", "name": "von Willebrand disease 3", "description": "von Willebrand disease 3" } ], "evidence": [ { "id": "277480", "database": "MIM", "url": "https://www.omim.org/entry/277480" } ] } ], "snv": [ { "evidence": [ { "id": "rs1591862230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1591862230" }, { "id": "rs1591862230", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1591862230" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1576, "end_pos": 1576, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TNT->NNT); n-glyco-sequon-loss (NRT->NRN).", "chr_id": "12", "chr_pos": "6018691", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1576", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374126602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374126602" }, { "id": "rs374126602", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374126602" }, { "id": "rs374126602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374126602#frequency_tab" }, { "id": "rs374126602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374126602" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1008, "end_pos": 1008, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "12", "chr_pos": "6025991", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1008", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1475875021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1475875021" }, { "id": "rs1475875021", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1475875021" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 101, "end_pos": 101, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGA).", "chr_id": "12", "chr_pos": "6110888", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04275", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04275" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1040, "end_pos": 1040, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "12", "chr_pos": "6025684", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1040", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P04275", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04275" } ], "glycoeffect": [], "start_pos": 1067, "end_pos": 1067, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "6025603", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V1067", "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: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": "" } ] }, { "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1398513804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398513804" }, { "id": "rs1398513804", 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"database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61749368" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1231, "end_pos": 1231, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "12", "chr_pos": "6019726", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.004992", "site_lbl": "N1231", "disease": [ { "disease_id": "DOID:0060573", "recommended_name": { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand's disease 1", "description": "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13." }, "synonyms": [ { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "VWD type 1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "VWD1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand disease type 1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand disease type I", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease 1", "description": "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)." }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease type I", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand's disease type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von willebrand's disease 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VON WILLEBRAND disease, type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD, type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "Von Willebrand disease, type 1", "description": "" }, { "id": "MIM:193400", "resource": "MIM", "url": "https://www.omim.org/entry/193400", "name": "von Willebrand disease 1", "description": "von Willebrand disease 1" } ] }, { "disease_id": "DOID:0111054", "recommended_name": { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "von Willebrand's disease 3", "description": "A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13." }, "synonyms": [ { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "VWD type 3", "description": "" }, { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "VWD3", "description": "" }, { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "von Willebrand disease type 3", "description": "" }, { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "von Willebrand disease type III", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease 3", "description": "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII)." }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VWD type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VWD3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease type III", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand's disease 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand's disease type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VON WILLEBRAND disease, type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VWD, type 3", "description": "" 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"http://gnomad.broadinstitute.org/awesome?query=rs371953822" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 156, "end_pos": 156, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->SKT).", "chr_id": "12", "chr_pos": "6110439", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N156", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775720629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775720629" }, { "id": "rs775720629", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775720629" }, { "id": "rs775720629", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775720629" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1574, "end_pos": 1574, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: 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"database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04275" }, { "id": "rs61750590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61750590" }, { "id": "rs61750590", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs61750590" }, { "id": "rs61750590", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61750590" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1648, "end_pos": 1648, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NAP->NAS).", "chr_id": "12", "chr_pos": "6018476", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1648", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:0060574", "recommended_name": { "id": "DOID:0060574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060574", "name": "von Willebrand's disease 2", "description": "A von Willebrand's disease characterized by qualitative but not 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"alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1819", "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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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "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" } ] }, { "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": "rs61751298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61751298" }, { "id": "rs61751298", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61751298" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 2546, "end_pos": 2546, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->YVS).", "chr_id": "12", "chr_pos": "5969304", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2546", "disease": [ { "disease_id": "DOID:0060573", "recommended_name": { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand's disease 1", "description": "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13." }, "synonyms": [ { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "VWD type 1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "VWD1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand disease type 1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand disease type I", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease 1", "description": "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)." }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease type I", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand's disease type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von willebrand's disease 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VON WILLEBRAND disease, type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD, type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "Von Willebrand disease, type 1", "description": "" }, { "id": "MIM:193400", "resource": "MIM", "url": "https://www.omim.org/entry/193400", "name": "von Willebrand disease 1", "description": "von Willebrand disease 1" } ] }, { "disease_id": "DOID:0111054", "recommended_name": { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "von Willebrand's disease 3", "description": "A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13." }, "synonyms": [ { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "VWD type 3", "description": "" }, { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "VWD3", "description": "" }, { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "von Willebrand disease type 3", "description": "" }, { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "von Willebrand disease type III", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease 3", "description": "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII)." }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VWD type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VWD3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease type III", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand's disease 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand's disease type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VON WILLEBRAND disease, type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VWD, type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "Von Willebrand disease, type 3", "description": "" }, { "id": "MIM:277480", "resource": "MIM", "url": "https://www.omim.org/entry/277480", "name": "von Willebrand disease 3", "description": "von Willebrand disease 3" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P04275", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04275" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 2548, "end_pos": 2548, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NVS->NVC).", "chr_id": "12", "chr_pos": "5969297", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S2548", "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": 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"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": "" 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"http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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 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"resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs761717107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761717107" }, { "id": "rs761717107", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761717107" }, { "id": "rs761717107", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761717107#frequency_tab" }, { "id": "rs761717107", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761717107" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 764, "end_pos": 764, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "12", "chr_pos": "6044442", "ref_nt": "T", "alt_nt": "null", 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"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": "rs765163545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765163545" }, { "id": "rs765163545", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765163545" }, { "id": "rs765163545", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765163545#frequency_tab" }, { "id": "rs765163545", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765163545" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 857, "end_pos": 857, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->SCT).", "chr_id": "12", "chr_pos": "6034803", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N857", "disease": [ { "disease_id": "DOID:0060573", "recommended_name": { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand's disease 1", "description": "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13." }, "synonyms": [ { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "VWD type 1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "VWD1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand disease type 1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand disease type I", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease 1", "description": "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)." }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease type I", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand's disease type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von willebrand's disease 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VON WILLEBRAND disease, type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD, type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "Von Willebrand disease, type 1", "description": "" }, { "id": "MIM:193400", "resource": "MIM", "url": "https://www.omim.org/entry/193400", "name": "von Willebrand disease 1", "description": "von Willebrand disease 1" } ] }, { "disease_id": "DOID:0060574", "recommended_name": { "id": "DOID:0060574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060574", "name": "von Willebrand's disease 2", "description": "A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13." }, "synonyms": [ { "id": "DOID:0060574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060574", "name": "VWD type 2", "description": "" }, { "id": "DOID:0060574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060574", "name": "VWD2", "description": "" }, { "id": "DOID:0060574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060574", "name": "von Willebrand disease type 2", "description": "" }, { "id": "DOID:0060574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060574", "name": "von Willebrand disease type II", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "von Willebrand disease 2", "description": "Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF)." }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "VWD type 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "VWD2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "von Willebrand disease 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "von Willebrand disease type 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "von Willebrand disease type II", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "von Willebrand disease, types 2A, 2B, 2M, and 2N", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "von Willebrand's disease type 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "von willebrand's disease 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "VON WILLEBRAND disease, type 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "VWD, type 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "Von Willebrand disease, type 2", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "Von Willebrand disease, type 2A", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "Von Willebrand disease, type 2B", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "Von Willebrand disease, type 2M", "description": "" }, { "id": "MONDO:0013304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013304", "name": "Von Willebrand disease, type 2N", "description": "" }, { "id": "MIM:613554", "resource": "MIM", "url": "https://www.omim.org/entry/613554", "name": "von Willebrand disease 2", "description": "von Willebrand disease 2" } ] }, { "disease_id": "DOID:0111054", "recommended_name": { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "von Willebrand's disease 3", "description": "A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13." }, "synonyms": [ { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "VWD type 3", "description": "" }, { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "VWD3", "description": "" }, { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "von Willebrand disease type 3", "description": "" }, { "id": "DOID:0111054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111054", "name": "von Willebrand disease type III", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease 3", "description": "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII)." }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VWD type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VWD3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand disease type III", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand's disease 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "von Willebrand's disease type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VON WILLEBRAND disease, type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "VWD, type 3", "description": "" }, { "id": "MONDO:0010191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010191", "name": "Von Willebrand disease, type 3", "description": "" }, { "id": "MIM:277480", "resource": "MIM", "url": "https://www.omim.org/entry/277480", "name": "von Willebrand disease 3", "description": "von Willebrand disease 3" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P04275", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04275" }, { "id": "rs371017187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371017187" }, { "id": "rs371017187", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371017187" }, { "id": "rs371017187", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371017187" }, { "id": "rs371017187", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371017187#frequency_tab" }, { "id": "rs371017187", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371017187" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 859, "end_pos": 859, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NCT->NCA).", "chr_id": "12", "chr_pos": "6034798", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T859", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs866176159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866176159" }, { "id": "rs866176159", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866176159" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 949, "end_pos": 949, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DET->NET).", "chr_id": "12", "chr_pos": "6029464", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D949", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04275", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04275" } ], "glycoeffect": [], "start_pos": 976, "end_pos": 976, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "12", "chr_pos": "6029382", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R976", "disease": [ { "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": "" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs267607312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267607312" }, { "id": "rs267607312", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267607312" }, { "id": "rs267607312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267607312" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 979, "end_pos": 979, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SIS->NIS).", "chr_id": "12", "chr_pos": "6029373", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S979", "disease": [ { "disease_id": "DOID:0060573", "recommended_name": { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand's disease 1", "description": "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13." }, "synonyms": [ { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "VWD type 1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "VWD1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand disease type 1", "description": "" }, { "id": "DOID:0060573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060573", "name": "von Willebrand disease type I", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease 1", "description": "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)." }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand disease type I", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von Willebrand's disease type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "von willebrand's disease 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VON WILLEBRAND disease, type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "VWD, type 1", "description": "" }, { "id": "MONDO:0008668", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008668", "name": "Von Willebrand disease, type 1", "description": "" }, { "id": "MIM:193400", "resource": "MIM", "url": "https://www.omim.org/entry/193400", "name": "von Willebrand disease 1", "description": "von Willebrand disease 1" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1437432449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437432449" }, { "id": "rs1437432449", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1437432449#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 99, "end_pos": 99, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->IGT).", "chr_id": "12", "chr_pos": "6110893", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N99", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 1149, "end_pos": 1149, "sequence_org": "C", "sequence_mut": "R", "comment": "Reduced secretion and increased intracellular retention. Similar phenotype; when associated with S-1169.", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" }, { "database": "PubMed", "id": "11698279", "url": "https://glygen.org/publication/PubMed/11698279" } ] }, { "start_pos": 1169, "end_pos": 1169, "sequence_org": "C", "sequence_mut": "S", "comment": "Reduced secretion and increased intracellular retention. Similar phenotype; when associated with R-1149.", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" }, { "database": "PubMed", "id": "11698279", "url": "https://glygen.org/publication/PubMed/11698279" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110799", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110799" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "92.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110799", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110799" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110799", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110799" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "97.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110799", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110799" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110799", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110799" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110799", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110799" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "90.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110799", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110799" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110799", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110799" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110799", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110799" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "98.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110799", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110799" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "77.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000110799", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110799" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110799", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110799" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000110799", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000110799" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P04275", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04275" } ], "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 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"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", 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"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", 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"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 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"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": "P04275", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04275" } ], "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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P04275", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04275" } ], "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": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P04275", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04275" } ], "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": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P04275", "url": 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"MIPARFAGVLLALALILPGTLCAEGTRGRSSTARCSLFGSDFVNTFDGSMYSFAGYCSYLLAGGCQKRSFSIIGDFQNGKRVSLSVYLGEFFDIHLFVNGTVTQGDQRVSMPYASKGLYLETEAGYYKLSGEAYGFVARIDGSGNFQVLLSDRYFNKTCGLCGNFNIFAEDDFMTQEGTLTSDPYDFANSWALSSGEQWCERASPPSSSCNISSGEMQKGLWEQCQLLKSTSVFARCHPLVDPEPFVALCEKTLCECAGGLECACPALLEYARTCAQEGMVLYGWTDHSACSPVCPAGMEYRQCVSPCARTCQSLHINEMCQERCVDGCSCPEGQLLDEGLCVESTECPCVHSGKRYPPGTSLSRDCNTCICRNSQWICSNEECPGECLVTGQSHFKSFDNRYFTFSGICQYLLARDCQDHSFSIVIETVQCADDRDAVCTRSVTVRLPGLHNSLVKLKHGAGVAMDGQDVQLPLLKGDLRIQHTVTASVRLSYGEDLQMDWDGRGRLLVKLSPVYAGKTCGLCGNYNGNQGDDFLTPSGLAEPRVEDFGNAWKLHGDCQDLQKQHSDPCALNPRMTRFSEEACAVLTSPTFEACHRAVSPLPYLRNCRYDVCSCSDGRECLCGALASYAAACAGRGVRVAWREPGRCELNCPKGQVYLQCGTPCNLTCRSLSYPDEECNEACLEGCFCPPGLYMDERGDCVPKAQCPCYYDGEIFQPEDIFSDHHTMCYCEDGFMHCTMSGVPGSLLPDAVLSSPLSHRSKRSLSCRPPMVKLVCPADNLRAEGLECTKTCQNYDLECMSMGCVSGCLCPPGMVRHENRCVALERCPCFHQGKEYAPGETVKIGCNTCVCQDRKWNCTDHVCDATCSTIGMAHYLTFDGLKYLFPGECQYVLVQDYCGSNPGTFRILVGNKGCSHPSVKCKKRVTILVEGGEIELFDGEVNVKRPMKDETHFEVVESGRYIILLLGKALSVVWDRHLSISVVLKQTYQEKVCGLCGNFDGIQNNDLTSSNLQVEEDPVDFGNSWKVSSQCADTRKVPLDSSPATCHNNIMKQTMVDSSCRILTSDVFQDCNKLVDPEPYLDVCIYDTCSCESIGDCACFCDTIAAYAHVCAQHGKVVTWRTATLCPQSCEERNLRENGYECEWRYNSCAPACQVTCQHPEPLACPVQCVEGCHAHCPPGKILDELLQTCVDPEDCPVCEVAGRRFASGKKVTLNPSDPEHCQICHCDVVNLTCEACQEPGGLVVPPTDAPVSPTTLYVEDISEPPLHDFYCSRLLDLVFLLDGSSRLSEAEFEVLKAFVVDMMERLRISQKWVRVAVVEYHDGSHAYIGLKDRKRPSELRRIASQVKYAGSQVASTSEVLKYTLFQIFSKIDRPEASRITLLLMASQEPQRMSRNFVRYVQGLKKKKVIVIPVGIGPHANLKQIRLIEKQAPENKAFVLSSVDELEQQRDEIVSYLCDLAPEAPPPTLPPDMAQVTVGPGLLGVSTLGPKRNSMVLDVAFVLEGSDKIGEADFNRSKEFMEEVIQRMDVGQDSIHVTVLQYSYMVTVEYPFSEAQSKGDILQRVREIRYQGGNRTNTGLALRYLSDHSFLVSQGDREQAPNLVYMVTGNPASDEIKRLPGDIQVVPIGVGPNANVQELERIGWPNAPILIQDFETLPREAPDLVLQRCCSGEGLQIPTLSPAPDCSQPLDVILLLDGSSSFPASYFDEMKSFAKAFISKANIGPRLTQVSVLQYGSITTIDVPWNVVPEKAHLLSLVDVMQREGGPSQIGDALGFAVRYLTSEMHGARPGASKAVVILVTDVSVDSVDAAADAARSNRVTVFPIGIGDRYDAAQLRILAGPAGDSNVVKLQRIEDLPTMVTLGNSFLHKLCSGFVRICMDEDGNEKRPGDVWTLPDQCHTVTCQPDGQTLLKSHRVNCDRGLRPSCPNSQSPVKVEETCGCRWTCPCVCTGSSTRHIVTFDGQNFKLTGSCSYVLFQNKEQDLEVILHNGACSPGARQGCMKSIEVKHSALSVELHSDMEVTVNGRLVSVPYVGGNMEVNVYGAIMHEVRFNHLGHIFTFTPQNNEFQLQLSPKTFASKTYGLCGICDENGANDFMLRDGTVTTDWKTLVQEWTVQRPGQTCQPILEEQCLVPDSSHCQVLLLPLFAECHKVLAPATFYAICQQDSCHQEQVCEVIASYAHLCRTNGVCVDWRTPDFCAMSCPPSLVYNHCEHGCPRHCDGNVSSCGDHPSEGCFCPPDKVMLEGSCVPEEACTQCIGEDGVQHQFLEAWVPDHQPCQICTCLSGRKVNCTTQPCPTAKAPTCGLCEVARLRQNADQCCPEYECVCDPVSCDLPPVPHCERGLQPTLTNPGECRPNFTCACRKEECKRVSPPSCPPHRLPTLRKTQCCDEYECACNCVNSTVSCPLGYLASTATNDCGCTTTTCLPDKVCVHRSTIYPVGQFWEEGCDVCTCTDMEDAVMGLRVAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQWASPENPCLINECVRVKEEVFIQQRNVSCPQLEVPVCPSGFQLSCKTSACCPSCRCERMEACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENNTGECCGRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHKCLAEGGKIMKIPGTCCDTCEEPECNDITARLQYVKVGSCKSEVEVDIHYCQGKCASKAMYSIDINDVQDQCSCCSPTRTEPMQVALHCTNGSVVYHEVLNAMECKCSPRKCSK", "length": 2813, "header": "sp|P04275-1|VWF_HUMAN Isoform 1 of von Willebrand factor OS=Homo sapiens OX=9606 GN=VWF PE=1 SV=4 CANONICAL=P04275-1" }, "isoforms": [ { "isoform_ac": "I3L4K4-1", "url": "", "sequence": { "sequence": "MIPARFAGVLLALALILPETRCLQMPSPVGELRSIKVAQNCPILWGHRMRRKESKTWMDY", "length": 60, "header": "tr|I3L4K4-1|I3L4K4_HUMAN Computationally mapped isoform of von Willebrand factor OS=Homo sapiens OX=9606 GN=VWF PE=4 SV=1 CANONICAL=P04275-1" }, "locus": { "chromosome": "12", "start_pos": 6123196, "end_pos": 6122842, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538563.1", "url": "https://www.ensembl.org/id/ENST00000538563.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000459134.1", "url": "https://www.ensembl.org/id/ENSP00000459134.1" } ] } }, { "isoform_ac": "P04275-1", "url": "", "sequence": { "sequence": "MIPARFAGVLLALALILPGTLCAEGTRGRSSTARCSLFGSDFVNTFDGSMYSFAGYCSYLLAGGCQKRSFSIIGDFQNGKRVSLSVYLGEFFDIHLFVNGTVTQGDQRVSMPYASKGLYLETEAGYYKLSGEAYGFVARIDGSGNFQVLLSDRYFNKTCGLCGNFNIFAEDDFMTQEGTLTSDPYDFANSWALSSGEQWCERASPPSSSCNISSGEMQKGLWEQCQLLKSTSVFARCHPLVDPEPFVALCEKTLCECAGGLECACPALLEYARTCAQEGMVLYGWTDHSACSPVCPAGMEYRQCVSPCARTCQSLHINEMCQERCVDGCSCPEGQLLDEGLCVESTECPCVHSGKRYPPGTSLSRDCNTCICRNSQWICSNEECPGECLVTGQSHFKSFDNRYFTFSGICQYLLARDCQDHSFSIVIETVQCADDRDAVCTRSVTVRLPGLHNSLVKLKHGAGVAMDGQDVQLPLLKGDLRIQHTVTASVRLSYGEDLQMDWDGRGRLLVKLSPVYAGKTCGLCGNYNGNQGDDFLTPSGLAEPRVEDFGNAWKLHGDCQDLQKQHSDPCALNPRMTRFSEEACAVLTSPTFEACHRAVSPLPYLRNCRYDVCSCSDGRECLCGALASYAAACAGRGVRVAWREPGRCELNCPKGQVYLQCGTPCNLTCRSLSYPDEECNEACLEGCFCPPGLYMDERGDCVPKAQCPCYYDGEIFQPEDIFSDHHTMCYCEDGFMHCTMSGVPGSLLPDAVLSSPLSHRSKRSLSCRPPMVKLVCPADNLRAEGLECTKTCQNYDLECMSMGCVSGCLCPPGMVRHENRCVALERCPCFHQGKEYAPGETVKIGCNTCVCQDRKWNCTDHVCDATCSTIGMAHYLTFDGLKYLFPGECQYVLVQDYCGSNPGTFRILVGNKGCSHPSVKCKKRVTILVEGGEIELFDGEVNVKRPMKDETHFEVVESGRYIILLLGKALSVVWDRHLSISVVLKQTYQEKVCGLCGNFDGIQNNDLTSSNLQVEEDPVDFGNSWKVSSQCADTRKVPLDSSPATCHNNIMKQTMVDSSCRILTSDVFQDCNKLVDPEPYLDVCIYDTCSCESIGDCACFCDTIAAYAHVCAQHGKVVTWRTATLCPQSCEERNLRENGYECEWRYNSCAPACQVTCQHPEPLACPVQCVEGCHAHCPPGKILDELLQTCVDPEDCPVCEVAGRRFASGKKVTLNPSDPEHCQICHCDVVNLTCEACQEPGGLVVPPTDAPVSPTTLYVEDISEPPLHDFYCSRLLDLVFLLDGSSRLSEAEFEVLKAFVVDMMERLRISQKWVRVAVVEYHDGSHAYIGLKDRKRPSELRRIASQVKYAGSQVASTSEVLKYTLFQIFSKIDRPEASRITLLLMASQEPQRMSRNFVRYVQGLKKKKVIVIPVGIGPHANLKQIRLIEKQAPENKAFVLSSVDELEQQRDEIVSYLCDLAPEAPPPTLPPDMAQVTVGPGLLGVSTLGPKRNSMVLDVAFVLEGSDKIGEADFNRSKEFMEEVIQRMDVGQDSIHVTVLQYSYMVTVEYPFSEAQSKGDILQRVREIRYQGGNRTNTGLALRYLSDHSFLVSQGDREQAPNLVYMVTGNPASDEIKRLPGDIQVVPIGVGPNANVQELERIGWPNAPILIQDFETLPREAPDLVLQRCCSGEGLQIPTLSPAPDCSQPLDVILLLDGSSSFPASYFDEMKSFAKAFISKANIGPRLTQVSVLQYGSITTIDVPWNVVPEKAHLLSLVDVMQREGGPSQIGDALGFAVRYLTSEMHGARPGASKAVVILVTDVSVDSVDAAADAARSNRVTVFPIGIGDRYDAAQLRILAGPAGDSNVVKLQRIEDLPTMVTLGNSFLHKLCSGFVRICMDEDGNEKRPGDVWTLPDQCHTVTCQPDGQTLLKSHRVNCDRGLRPSCPNSQSPVKVEETCGCRWTCPCVCTGSSTRHIVTFDGQNFKLTGSCSYVLFQNKEQDLEVILHNGACSPGARQGCMKSIEVKHSALSVELHSDMEVTVNGRLVSVPYVGGNMEVNVYGAIMHEVRFNHLGHIFTFTPQNNEFQLQLSPKTFASKTYGLCGICDENGANDFMLRDGTVTTDWKTLVQEWTVQRPGQTCQPILEEQCLVPDSSHCQVLLLPLFAECHKVLAPATFYAICQQDSCHQEQVCEVIASYAHLCRTNGVCVDWRTPDFCAMSCPPSLVYNHCEHGCPRHCDGNVSSCGDHPSEGCFCPPDKVMLEGSCVPEEACTQCIGEDGVQHQFLEAWVPDHQPCQICTCLSGRKVNCTTQPCPTAKAPTCGLCEVARLRQNADQCCPEYECVCDPVSCDLPPVPHCERGLQPTLTNPGECRPNFTCACRKEECKRVSPPSCPPHRLPTLRKTQCCDEYECACNCVNSTVSCPLGYLASTATNDCGCTTTTCLPDKVCVHRSTIYPVGQFWEEGCDVCTCTDMEDAVMGLRVAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQWASPENPCLINECVRVKEEVFIQQRNVSCPQLEVPVCPSGFQLSCKTSACCPSCRCERMEACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENNTGECCGRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHKCLAEGGKIMKIPGTCCDTCEEPECNDITARLQYVKVGSCKSEVEVDIHYCQGKCASKAMYSIDINDVQDQCSCCSPTRTEPMQVALHCTNGSVVYHEVLNAMECKCSPRKCSK", "length": 2813, "header": "sp|P04275-1|VWF_HUMAN Isoform 1 of von Willebrand factor OS=Homo sapiens OX=9606 GN=VWF PE=1 SV=4 CANONICAL=P04275-1" }, "locus": { "chromosome": "12", "start_pos": 6123196, "end_pos": 5949018, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261405.10", "url": "https://www.ensembl.org/id/ENST00000261405.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000261405.5", "url": "https://www.ensembl.org/id/ENSP00000261405.5" } ] } }, { "isoform_ac": "P04275-2", "url": "", "sequence": { "sequence": "MGAQDEEEGIQDLDGLLVFDKIVEVTLLNLPWYNEETEGQRGEMTAPKSPRAKIRGTLCAEGTRGRSSTARCSLFGSDFVNTFDGSMYSFAGYCSYLLAGGCQKRSFSIIGDFQNGKRVSLSVYLGEFFDIHLFVNGTVTQGDQRVSMPYASKGLYLETEAGYYKLSGEAYGFVARIDGSGNFQVLLSDRYFNKTCGLCGNFNIFAEDDFMTQEGTLTSDPYDFANSWALSSGEQWCERASPPSSSCNISSGEMQKEEPECNDITARLQYVKVGSCKSEVEVDIHYCQGKCASKAMYSIDINDVQDQCSCCSPTRTEPMQVALHCTNGSVVYHEVLNAMECKCSPRKCSKI", "length": 351, "header": "sp|P04275-2|VWF_HUMAN Isoform 2 of von Willebrand factor OS=Homo sapiens OX=9606 GN=VWF PE=1 SV=4 CANONICAL=P04275-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine; atypical", "start_pos": 1147, "start_aa": "Asn", "end_pos": 1147, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1147", "evidence": [ { "id": "P04275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04275#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1231, "start_aa": "Asn", "end_pos": 1231, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1231", "evidence": [ { "id": "P04275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04275#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "predicted", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 1248, "start_aa": "Thr", "end_pos": 1248, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1248", "evidence": [ { "id": "P04275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04275#ptm_processing" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1255, "start_aa": "Thr", "end_pos": 1255, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1255", "evidence": [ { "id": "P04275", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1255, "start_aa": "Thr", "end_pos": 1255, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1255", "evidence": [ { "id": "P04275", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1255, "start_aa": "Thr", "end_pos": 1255, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1255", "evidence": [ { "id": "P04275", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G73004SD", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1255, "start_aa": "Thr", "end_pos": 1255, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1255", "evidence": [ { "id": "P04275", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 1255, "start_aa": "Thr", "end_pos": 1255, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1255", "evidence": [ { "id": "P04275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04275#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1256, "start_aa": "Thr", "end_pos": 1256, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1256", "evidence": [ { "id": "P04275", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 1256, "start_aa": "Thr", "end_pos": 1256, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1256", "evidence": [ { "id": "P04275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04275#ptm_processing" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1263, "start_aa": "Ser", "end_pos": 1263, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1263", "evidence": [ { "id": "P04275", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1263, "start_aa": "Ser", "end_pos": 1263, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1263", "evidence": [ { "id": "P04275", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine O-GalNAcylation", "start_pos": 1263, "start_aa": "Ser", "end_pos": 1263, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1263", "evidence": [ { "id": "P04275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04275#ptm_processing" }, { "id": "3524673", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3524673" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1468, "start_aa": "Thr", "end_pos": 1468, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1468", "evidence": [ { "id": "P04275", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 1468, "start_aa": "Thr", "end_pos": 1468, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1468", "evidence": [ { "id": "P04275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04275#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1477, "start_aa": "Thr", "end_pos": 1477, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1477", "evidence": [ { "id": "P04275", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine O-GalNAcylation", "start_pos": 1477, "start_aa": "Thr", "end_pos": 1477, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1477", "evidence": [ { "id": "P04275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04275#ptm_processing" } ] }, { 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"MVPVRLARVLLALALTLPGALCGEETLGKSSMARCSLFGSNFINTFDQSMYSFAGSCSYLLAGDCQKHSFSIIGDFQDGKRVGLSVYLGEFFDIHVFVNGTVLQGDQSISTPYASKGLYLESQAGYHTLSSEAYGFVARIDGSGNFQVLLSDRYFNKTCGLCGDFNIFSEDDFKTQEGTLTSDPYSFANSWALSSGEQHCQRAAPPSISCNISSEMQKGLWEQCQLLKSASVFARCHPLVDPEPFVALCEKMLCPCAQGLQCPCPALLEYARACAQQGMLLYGWMDHSLCRPDCPAGMEYRECVSPCTRTCQSLHINEVCQEQCVDGCSCPEGQLLDDGRCVESAECSCVHSGKRYPPGASLSRDCNTCICRNSLWVCSNEDCPGECLVTGQSHFKSFDNRHFTFSGVCQYLLARDCQDHTFSVIIETVQCADDPDAVCTRSVTVRLPSPHNSLVKLKHGGGVAMDGWDVQIPFLQGDLRIQHTVMASVHLSYGEDLQIDWDGRGRLLVKLSPVYAGRTCGLCGNYNGNQGDDFLTPAGLVEPLVEHFGNAWKLHGDCEDLRKQPTDPCSLNPRLTRFAEEACAILTSPKFQACHDAVGPLPYLQNCHYDVCSCSDGRDCLCDAVATYAAACARRGVHIGWREPGFCALSCPPGQVYLQCGTPCNLTCRSLSYPDEECAEDCLEGCFCPPGLYLDGSGDCVPKAQCPCYHDGEIFQPEDIFSDHHTMCYCEDGFMHCSRAGAPGSLQPEVVLSSPLSHRSKRSLSCRPPMVKLVCPADNPRAEGLECAKTCQNYDLECVSTGCVSGCLCPPGMVRHENRCVALQRCPCFHQGREYAPGETVKVDCNTCVCRDRKWSCTDHVCDASCSALGLAHYLTFDGLKYLFPGECQYVLVQDYCGSNPGTFRILLGNEGCGYPSLKCRKRVTILVDGGEIELFDGEVMVKKPLKDETHFEVVESGRFITVLLGSGLSVVWDRHLGISVFLKQTYQEQVCGLCGNFDGVQNNDLTGSSLQVEEDPVDFGNSWKVSPQCADTRKVPLDTSPATCHNNVMKQTMVDSSCRILTSDIFQDCNKLVDPEPYLDVCIYDTCSCESIGDCACFCDTIAAYARVCAQHGKVVTWRTATLCPQNCEERNLREDGYQCEWRYNSCAPACPVTCQHPEPLACPVSCVEGCHAHCPPGKILDELLQTCVSPEDCPVCEAAGRRLAPGKKITLNPRDPAHCQICHCDGVNLTCEACAEPVPPTEGPVSPTTPYEEDTPEPPLHDFFCSKLLDLVFLLDGSDKLSEADFEALKVFVVGMMEHLHISQKHIRVAVVEYHDGSHAYISLQDRKRPSELRRIASQVKYAGSEVASISEVLKYTLFQIFGRVDRPEASRIALLLMASQEPRRLAQNLARYLQGLKKKKVTVIPVGIGPHVSLKQIRLIEKQAPENKAFVVSGVDELEQRKNEIISYLCDLAPEVPAPTRRPLVAQVTVAPELPGVSTLEPKKRMVLDVVFVLEGSDKVGEANFNRSTEFVEEVIRRMDVGRDSVHVTVLQYSYVVAVEHSFREAQSKGEVLQRVREIRFQGGNRTNTGLALQYLSEHSFSASQGDREEAPNLVYMVTGNPASDEIKRMPGDIQVVPIGVGPDVDMQELERLSWPNAPIFIQDFETLPREAPDLVLQRCCSGEGPHLPTQAPVPDCSQPLDVVLLLDGSSSLPASYFDEMKSFTKAFISKANIGPQLTQVSVLQYGSITTIDLPWNMPLEKAHLRGLVDLMQREGGPSQIGDALGFAVRYVMSQVHGARPEASKAVVIMVTDTSTDSVDAAAAAARSNRVAVFPIGIGDRYDEAQLRTLAGPGASSNVVKLQRIEDLPTLVTLGNSFLHKLCSGFVRVCIDEDGSERKPGDVWTLPDQCHTVTCLPDGQTLLKSHRVNCDQGLQPSCPSNQPPIRVEEACGCRWTCPCVCTGSSTRHIVTFDGQNFKLMGNCSYVLFHNKEQDLEVILHNGACGAGARQACMKSIEVKHNGLSVELHRDMEVVVNGRQVSVPYVGGNMEVGIYGTIMYEVRFNHLGHILTFTPQNNEFQLQLSPKTFASKMYGLCGICDENGANDFMLRDGTVTTDWKTMVQEWAVQQPGQMCQPVPKEQCPVSGGYQCQVLLSALFAECHKVLAPAAYFAICQQDSCHQEQVCEAVASYAHLCQTKGVCVDWRTPDFCAVSCPPSLVYNHCEHGCPRHCEGNSSSCGDHPSEGCFCPPHQVMLGSSCVPEEACTQCVDDDGIRHQFLETWVPDHQPCQICTCLSGRRVNCTLQPCPTARAPACGLCEVARLRQGAHQCCPEYECVCDLVSCDLPPVPHCEGGLQPTLTNPGECRPNFTCACRKEECPRGPLPSCPPHRTPALRKTQCCDEYECACNCVNTTLSCPLGYLASTVTNDCGCTTTTCLPDKVCVHRGTVYPVGQFWEEGCDVCTCTDLEDAVMGLRVAQCAQKPCEDSCRPGFTYVLHEGECCGKCLPSACKVVIGSFRGDSVSYWKSVGSHWASPENPCLINECVRVKEEVFVQQRNVSCPMLDVPTCPVGFQLSCKTSGCCPTCRCEPVEACLLNGTIIGAGESLMIDVCTTCRCMLQEGVVFGFKLECKKTTCEACPLGYKEEKMPGECCGRCLPTACTIQLRGGQIMTLKRDETLQDGCDSHFCRVNERGEYIWEKRITGCPPFDQHKCLAAGGKIMKIPGTCCDTCEEPECKDMTARLQYVKVGNCRSEEEVDIHYCQGKCTSKAVYSIDTEDVEDQCACCSPTRTEPMQVPLRCTNGSTIYHEVLNAIQCKCSPRKCSKYPAAPWLPTSAEPTDGGQRGPGPQTWTAVPQGAGSQSPGPAGQLPSSFRPATWWRELPQQLCHQQLPGCQRAGVLGGPSEPHALPRQPEEGRLRARLPLPETRGAPGPRLPGPLAGHRLQWGDRQGPPRGGSQ", "length": 2940 }, "evidence": [ { "id": "P04275", "url": "https://omabrowser.org/oma/group/P04275/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "Q8CIZ8-1", "protein_name": "von Willebrand factor", "gene_name": "Vwf", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNPFRYEICLLVLALTWPGTLCTEKPRDRPSTARCSLFGDDFINTFDETMYSFAGGCSYLLAGDCQKRSFSILGNFQDGKRMSLSVYLGEFFDIHLFANGTVMQGDQSISMPYASQGLYLELEAGYYKLSSETFGFAARIDGNGNFQVLMSDRHFNKTCGLCGDFNIFAEDDFRTQEGTLTSDPYDFANSWALSSEEQRCKRASPPSRNCESSSGDMHQAMWEQCQLLKTASVFARCHPLVDPESFVALCEKILCTCATGPECACPVLLEYARTCAQEGMVLYGWTDHSACRPACPAGMEYKECVSPCPRTCQSLSINEVCQQQCVDGCSCPEGELLDEDRCVQSSDCPCVHAGKRYPPGTSLSQDCNTCICRNSLWICSNEECPGECLVTGQSHFKSFDNRYFTFSGICQYLLARDCEDHTFSIVIETMQCADDPDAVCTRSVSVRLSALHNSLVKLKHGGAVGIDGQDVQLPFLQGDLRIQHTVMASVRLSYAEDLQMDWDGRGRLLVKLSPVYSGKTCGLCGNYNGNKGDDFLTPAGLVEPLVVDFGNAWKLQGDCSDLRRQHSDPCSLNPRLTRFAEEACALLTSSKFEACHHAVSPLPYLQNCRYDVCSCSDSRDCLCNAVANYAAECARKGVHIGWREPGFCALGCPQGQVYLQCGNSCNLTCRSLSLPDEECSEVCLEGCYCPPGLYQDERGDCVPKAQCPCYYDGELFQPADIFSDHHTMCYCEDGFMHCTTSGTLGSLLPDTVLSSPLSHRSKRSLSCRPPMVKLVCPADNPRAQGLECAKTCQNYDLERMSLGCVSGCLCPPGMVRHENKCVALERCPCFHQGAEYAPGDTVKIGCNTCVCRERKWNCTNHVCDATRSAIGMAHYLTFDGLKYLFPGECQYVLVYDYCGSNPGTFQILVGNEGCSYPSVKCRKRVTILVDGGELELFDGEVNVKRPLRDESHFEVVESGRYVILLLGQALSVVWDHHLSISVVLKHTYQEQVCGLCGNFDGIQNNDSTTSSLQVEEDPVNFGNSWKVSSQCADTRKLSLDVSPATCHNNIMKQTMVDSACRILTSDVFQGCNRLVDPEPYLDICIYDTCSCESIGDCACFCDTIAAYAHVCAQHGQVVAWRTPTLCPQSCEEKNVRENGYECEWRYNSCAPACPVTCQHPEPLACPVQCVEGCHAHCPPGRILDELLQTCVDPQDCPVCEVAGRRLAPGKKITLSPDDPAHCQNCHCDGVNLTCEACQEPGGLVAPPTDAPVSSTTPYVEDTPEPPLHNFYCSKLLDLVFLLDGSSMLSEAEFEVLKAFVVGMMERLHISQKRIRVAVVEYHDGSRAYLELKARKRPSELRRITSQIKYTGSQVASTSEVLKYTLFQIFGKIDRPEASHITLLLTASQEPPRMARNLVRYVQGLKKKKVIVIPVGIGPHASLKQIRLIEKQAPENKAFLLSGVDELEQRRDEIVSYLCDLAPEAPAPTQPPQVAHVTVSPGIAGISSPGPKRKSMVLDVVFVLEGSDEVGEANFNKSKEFVEEVIQRMDVSPDATRISVLQYSYTVTMEYAFNGAQSKEEVLRHVREIRYQGGNRTNTGQALQYLSEHSFSPSQGDRVEAPNLVYMVTGNPASDEIKRLPGDIQVVPIGVGPHANMQELERISRPIAPIFIRDFETLPREAPDLVLQTCCSKEGLQLPTLPPLPDCSQPLDVVLLLDGSSSLPESSFDKMKSFAKAFISKANIGPHLTQVSVIQYGSINTIDVPWNVVQEKAHLQSLVDLMQQEGGPSQIGDALAFAVRYVTSQIHGARPGASKAVVIIIMDTSLDPVDTAADAARSNRVAVFPVGVGDRYDEAQLRILAGPGASSNVVKLQQVEDLSTMATLGNSFFHKLCSGFSGVCVDEDGNEKRPGDVWTLPDQCHTVTCLANGQTLLQSHRVNCDHGPRPSCANSQSPVRVEETCGCRWTCPCVCTGSSTRHIVTFDGQNFKLTGSCSYVIFQNKEQDLEVLLHNGACSPGAKQACMKSIEIKHAGVSAELHSNMEMAVDGRLVLAPYVGENMEVSIYGAIMYEVRFTHLGHILTYTPQNNEFQLQLSPKTFASKMHGLCGICDENGANDFTLRDGTVTTDWKRLVQEWTVQQPGYTCQAVPEEQCPVSDSSHCQVLLSASFAECHKVIAPATFHTICQQDSCHQERVCEVIASYAHLCRTSGVCVDWRTTDFCAMSCPPSLVYNHCERGCPRHCDGNTSFCGDHPSEGCFCPQHQVFLEGSCVPEEACTQCVGEDGVRHQFLETWVPDHQPCQICMCLSGRKINCTAQPCPTARAPTCGPCEVARLKQSTNLCCPEYECVCDLFNCNLPPVPPCEGGLQPTLTNPGECRPTFTCDCRKEECKRVSPPSCPPHRTPTLRKTQCCDEYECACSCVNSTLSCPLGYLASATTNDCGCTTTTCLPDKVCVHRGTVYPVGQFWEEGCDTCTCTDMEDTVVGLRVVQCSQRPCEDSCQPGFSYVLHEGECCGRCLPSACKVVAGSLRGDSHSSWKSVGSRWAVPENPCLVNECVRVEDAVFVQQRNISCPQLAVPTCPTGFQLNCETSECCPSCHCEPVEACLLNGTIIGPGKSVMVDLCTTCRCIVQTDAISRFKLECRKTTCEACPMGYREEKSQGECCGRCLPTACTIQLRGGRIMTLKQDETFQDGCDSHLCRVNERGEYIWEKRVTGCPPFDEHKCLAEGGKIVKIPGTCCDTCEEPDCKDITAKVQYIKVGDCKSQEEVDIHYCQGKCASKAVYSIDIEDVQEQCSCCLPSRTEPMRVPLHCTNGSVVYHEVINAMQCRCSPRNCSK", "length": 2813 }, "evidence": [ { "id": "45921307", "url": "http://www.informatics.jax.org/homology/45921307", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "immunoglobulin binding", "id": "GO:0019865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019865", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "platelet alpha granule lumen", "id": "GO:0031093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031093", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "platelet alpha granule", "id": "GO:0031091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031091", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "Weibel-Palade body", "id": "GO:0033093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033093", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "hemostasis", "id": "GO:0007599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007599", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "von Willebrand factor N-glycosylated 1 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-1515 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P04275-1, Asn-1515, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053341", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053341" } ] }, { "name": "von Willebrand factor N-glycosylated 2 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-1515 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G16175ZV. Example: UniProtKB:P04275-1, Asn-1515, MOD:00160~GNO:G16175ZV. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053342", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053342" } ] }, { "name": "von Willebrand factor N-glycosylated 3 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053343", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053343" } ] }, { "name": "von Willebrand factor N-glycosylated 4 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G04784US. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G04784US. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053344", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053344" } ] }, { "name": "von Willebrand factor N-glycosylated 5 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G06247RL. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053345", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053345" } ] }, { "name": "von Willebrand factor N-glycosylated 6 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G07799LX. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G07799LX. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053346", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053346" } ] }, { "name": "von Willebrand factor N-glycosylated 7 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053347", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053347" } ] }, { "name": "von Willebrand factor N-glycosylated 8 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G15038BD. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G15038BD. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053348", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053348" } ] }, { "name": "von Willebrand factor N-glycosylated 9 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G29279QO. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G29279QO. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053349", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053349" } ] }, { "name": "von Willebrand factor N-glycosylated 10 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G41044JW. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G41044JW. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053350", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053350" } ] }, { "name": "von Willebrand factor N-glycosylated 11 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G75568BH. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G75568BH. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053351", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053351" } ] }, { "name": "von Willebrand factor N-glycosylated 12 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G83555HU. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G83555HU. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053352", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053352" } ] }, { "name": "von Willebrand factor N-glycosylated 13 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G84664JR. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G84664JR. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053353", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053353" } ] }, { "name": "von Willebrand factor N-glycosylated 14 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G85144OK. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G85144OK. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053354", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053354" } ] }, { "name": "von Willebrand factor N-glycosylated 15 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G86752LQ. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G86752LQ. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053355", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053355" } ] }, { "name": "von Willebrand factor N-glycosylated 16 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G94917XT. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G94917XT. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053356", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053356" } ] }, { "name": "von Willebrand factor N-glycosylated 17 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-1574 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P04275-1, Asn-1574, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053357", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053357" } ] }, { "name": "von Willebrand factor N-glycosylated 18 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-1574 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G41247ZX. Example: UniProtKB:P04275-1, Asn-1574, MOD:00160~GNO:G41247ZX. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053358", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053358" } ] }, { "name": "von Willebrand factor N-glycosylated 19 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-1574 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P04275-1, Asn-1574, MOD:00160~GNO:G58001LT. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053359", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053359" } ] }, { "name": "von Willebrand factor N-glycosylated 20 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-211 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P04275-1, Asn-211, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053360", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053360" } ] }, { "name": "von Willebrand factor N-glycosylated 21 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-211 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P04275-1, Asn-211, MOD:00160~GNO:G88374WZ. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053361", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053361" } ] }, { "name": "von Willebrand factor N-glycosylated 22 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-2223 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P04275-1, Asn-2223, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053362", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053362" } ] }, { "name": "von Willebrand factor N-glycosylated 23 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-2223 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P04275-1, Asn-2223, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053363", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053363" } ] }, { "name": "von Willebrand factor N-glycosylated 24 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-2223 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G83555HU. Example: UniProtKB:P04275-1, Asn-2223, MOD:00160~GNO:G83555HU. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053364", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053364" } ] }, { "name": "von Willebrand factor N-glycosylated 25 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-2223 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G86752LQ. Example: UniProtKB:P04275-1, Asn-2223, MOD:00160~GNO:G86752LQ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053365", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053365" } ] }, { "name": "von Willebrand factor N-glycosylated 26 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-2223 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G94917XT. Example: UniProtKB:P04275-1, Asn-2223, MOD:00160~GNO:G94917XT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053366", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053366" } ] }, { "name": "von Willebrand factor N-glycosylated 27 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-2546 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P04275-1, Asn-2546, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053367", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053367" } ] }, { "name": "von Willebrand factor N-glycosylated 28 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-666 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P04275-1, Asn-666, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053368", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053368" } ] }, { "name": "von Willebrand factor N-glycosylated 29 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-666 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G16175ZV. Example: UniProtKB:P04275-1, Asn-666, MOD:00160~GNO:G16175ZV. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053369", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053369" } ] }, { "name": "von Willebrand factor N-glycosylated 30 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-666 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G22018FP. Example: UniProtKB:P04275-1, Asn-666, MOD:00160~GNO:G22018FP. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053370", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053370" } ] }, { "name": "von Willebrand factor N-glycosylated 31 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-666 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G27126ED. Example: UniProtKB:P04275-1, Asn-666, MOD:00160~GNO:G27126ED. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053371", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053371" } ] }, { "name": "von Willebrand factor N-glycosylated 32 (human)", "definition": "A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-666 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P04275-1, Asn-666, MOD:00160~GNO:G88374WZ. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053372", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053372" } ] }, { "name": "von Willebrand factor O-glycosylated 1 (human)", "definition": "A von Willebrand factor (human) that has been O-glycosylated at the residue equivalent to Ser-1263 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P04275-1, Ser-1263, MOD:00002~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053373", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053373" } ] }, { "name": "von Willebrand factor O-glycosylated 2 (human)", "definition": "A von Willebrand factor (human) that has been O-glycosylated at the residue equivalent to Ser-1263 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04275-1, Ser-1263, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053374", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053374" } ] }, { "name": "von Willebrand factor O-glycosylated 3 (human)", "definition": "A von Willebrand factor (human) that has been O-glycosylated at the residue equivalent to Ser-746 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P04275-1, Ser-746, MOD:00002~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053375", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053375" } ] }, { "name": "von Willebrand factor O-glycosylated 4 (human)", "definition": "A von Willebrand factor (human) that has been O-glycosylated at the residue equivalent to Ser-746 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04275-1, Ser-746, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053376", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053376" } ] }, { "name": "von Willebrand factor O-glycosylated 5 (human)", "definition": "A von Willebrand factor (human) that has been O-glycosylated at the residue equivalent to Thr-1255 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P04275-1, Thr-1255, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053377", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053377" } ] }, { "name": "von Willebrand factor O-glycosylated 6 (human)", "definition": "A von Willebrand factor (human) that has been O-glycosylated at the residue equivalent to Thr-1255 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04275-1, Thr-1255, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053378", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053378" } ] }, { "name": "von Willebrand factor O-glycosylated 7 (human)", "definition": "A von Willebrand factor (human) that has been O-glycosylated at the residue equivalent to Thr-1255 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P04275-1, Thr-1255, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053379", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053379" } ] }, { "name": "von Willebrand factor O-glycosylated 8 (human)", "definition": "A von Willebrand factor (human) that has been O-glycosylated at the residue equivalent to Thr-1255 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G73004SD. Example: UniProtKB:P04275-1, Thr-1255, MOD:00005~GNO:G73004SD. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053380", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053380" } ] }, { "name": "von Willebrand factor O-glycosylated 9 (human)", "definition": "A von Willebrand factor (human) that has been O-glycosylated at the residue equivalent to Thr-1256 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04275-1, Thr-1256, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053381", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053381" } ] }, { "name": "von Willebrand factor O-glycosylated 10 (human)", "definition": "A von Willebrand factor (human) that has been O-glycosylated at the residue equivalent to Thr-1468 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04275-1, Thr-1468, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053382", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053382" } ] }, { "name": "von Willebrand factor O-glycosylated 11 (human)", "definition": "A von Willebrand factor (human) that has been O-glycosylated at the residue equivalent to Thr-1477 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04275-1, Thr-1477, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053383", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053383" } ] }, { "name": "von Willebrand factor O-glycosylated 12 (human)", "definition": "A von Willebrand factor (human) that has been O-glycosylated at the residue equivalent to Thr-2298 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P04275-1, Thr-2298, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053384", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053384" } ] }, { "name": "von Willebrand factor O-glycosylated 13 (human)", "definition": "A von Willebrand factor (human) that has been O-glycosylated at the residue equivalent to Thr-2298 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04275-1, Thr-2298, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053385", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053385" } ] } ], "site_annotation": [ { "start_pos": 1231, "end_pos": 1233, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1515, "end_pos": 1517, "annotation": "n_glycosylation_sequon" }, { "start_pos": 156, "end_pos": 158, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1574, "end_pos": 1576, "annotation": "n_glycosylation_sequon" }, { "start_pos": 211, "end_pos": 213, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2223, "end_pos": 2225, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2290, "end_pos": 2292, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2357, "end_pos": 2359, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2400, "end_pos": 2402, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2546, "end_pos": 2548, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2585, "end_pos": 2587, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2635, "end_pos": 2637, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2790, "end_pos": 2792, "annotation": "n_glycosylation_sequon" }, { "start_pos": 666, "end_pos": 668, "annotation": "n_glycosylation_sequon" }, { "start_pos": 857, "end_pos": 859, "annotation": "n_glycosylation_sequon" }, { "start_pos": 99, "end_pos": 101, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N- and O-glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "P04275", "url": "https://www.uniprot.org/uniprot/P04275" }, { "database": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" }, { "database": "PubMed", "id": "14760718", "url": "https://glygen.org/publication/PubMed/14760718" }, { "database": "PubMed", "id": "19139490", "url": "https://glygen.org/publication/PubMed/19139490" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [ { "assessed_biomarker_entity": "von Willebrand factor (VWF)", "biomarker_id": "A0117", "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "32619411", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32619411" }, { "id": "30386613", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30386613" } ], "instances": [ { "best_biomarker_type": "monitoring", "status": "increased VWF level", "disease": { "disease_id": "DOID:0080600", "recommended_name": { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2." }, "synonyms": [ { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019 Novel Coronavirus (2019-nCoV)", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019-nCoV infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan coronavirus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan seafood market pneumonia virus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID19", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "SARS-CoV-2 infection", "description": "" } ] }, "tissue": { "name": "blood", "namespace": "UBERON", "id": "0000178", "url": 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