PedAM
Pediatric Disease Annotations & Medicines
| von willebrand disease | ||||
| Disease ID | 46 |
|---|---|
| Disease | von willebrand disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:12) C1521999 | acute myocardial infarction C0267373 | intestinal bleeding C0040038 | thromboembolism C0040034 | thrombocytopenia C0040028 | essential thrombocythemia C0035085 | renal infarction C0026267 | mitral valve prolapse C0019562 | von hippel-lindau disease C0019080 | hemorrhage C0019069 | factor viii deficiency C0018818 | ventricular septal defect C0015530 | factor xiii deficiency |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:38) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121964895 | 21264446 | 7450 | VWF | umls:C0042974 | BeFree | It was the aim of the present study to prospectively evaluate clinical events of 60 heterozygous patients with VWD Vicenza (VWD-VI) carrying R1205H VWF mutation and 23 with C1130F mutation, both characterised by markedly increased VWF clearance. | 0.249618745 | 2011 | VWF | 12 | 6021960 | C | T,A |
| rs146698837 | 1634227 | 2155 | F7 | umls:C0042974 | BeFree | A G-to-A transition, which gives rise to a missense mutation, Arg-304 to Gln, and is associated with the factor VII padua variant, was found in the heterozygous form in a subject also affected by von Willebrand disease. | 0.000814326 | 1992 | F7 | 13 | 113118584 | G | A |
| rs1800383 | 24581275 | 7450 | VWF | umls:C0042974 | BeFree | None of the patients with low VWF:RCo, decreased VWF:RCo/VWF:Ag ratio and p.D1472H had VWD type 2M mutations identified. | 0.249618745 | 2014 | VWF | 12 | 6019004 | C | G,A |
| rs216321 | 15113383 | 7450 | VWF | umls:C0042974 | BeFree | The cause of this was subsequently shown to be the Normandy variant of type-2 von Willebrand's disease due to a homozygous Arg854Gln mutation in the von Willebrand factor gene. | 0.249618745 | 2004 | VWF | 12 | 6034818 | T | C |
| rs216321 | 1581215 | 7450 | VWF | umls:C0042974 | BeFree | A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele. | 0.249618745 | 1992 | VWF | 12 | 6034818 | T | C |
| rs267607324 | 21264446 | 7450 | VWF | umls:C0042974 | BeFree | It was the aim of the present study to prospectively evaluate clinical events of 60 heterozygous patients with VWD Vicenza (VWD-VI) carrying R1205H VWF mutation and 23 with C1130F mutation, both characterised by markedly increased VWF clearance. | 0.249618745 | 2011 | VWF | 12 | 6022889 | C | A |
| rs267607328 | 12353070 | 7450 | VWF | umls:C0042974 | BeFree | Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X). | 0.249618745 | 2002 | VWF | 12 | 6022811 | G | A |
| rs267607369 | 16676067 | 7450 | VWF | umls:C0042974 | BeFree | Impaired dimerization of von Willebrand factor subunit due to mutation A2801D in the CK domain results in a recessive type 2A subtype IID von Willebrand disease. | 0.249618745 | 2006 | VWF;ANO2 | 12 | 5949055 | G | T |
| rs41276738 | NA | 7450 | VWF | umls:C0042974 | CLINVAR | NA | 0.249618745 | NA | VWF | 12 | 6034812 | C | T |
| rs41276738 | 15113383 | 7450 | VWF | umls:C0042974 | BeFree | The cause of this was subsequently shown to be the Normandy variant of type-2 von Willebrand's disease due to a homozygous Arg854Gln mutation in the von Willebrand factor gene. | 0.249618745 | 2004 | VWF | 12 | 6034812 | C | T |
| rs41276738 | 1581215 | 7450 | VWF | umls:C0042974 | BeFree | A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele. | 0.249618745 | 1992 | VWF | 12 | 6034812 | C | T |
| rs61748466 | 12393698 | 7450 | VWF | umls:C0042974 | BeFree | An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant. | 0.249618745 | 2003 | VWF | 12 | 6046726 | G | A |
| rs61748482 | 20586924 | 7450 | VWF | umls:C0042974 | BeFree | Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype. | 0.249618745 | 2010 | VWF | 12 | 6034813 | G | A |
| rs61749384 | 17087728 | 7450 | VWF | umls:C0042974 | BeFree | We used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F). | 0.249618745 | 2007 | VWF | 12 | 6019502 | G | A |
| rs61749385 | 20200350 | 7450 | VWF | umls:C0042974 | BeFree | We developed a mouse model to study phenotypic consequences of VWD-type 2B mutations in murine VWF: mVWF/R1306Q and mVWF/V1316M. | 0.249618745 | 2010 | VWF | 12 | 6019501 | C | T,A |
| rs61749388 | 17087728 | 7450 | VWF | umls:C0042974 | BeFree | We used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F). | 0.249618745 | 2007 | VWF | 12 | 6019495 | C | T,G,A |
| rs61749393 | 17087728 | 7450 | VWF | umls:C0042974 | BeFree | We used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F). | 0.249618745 | 2007 | VWF | 12 | 6019478 | C | G,A |
| rs61749395 | 11159522 | 7450 | VWF | umls:C0042974 | BeFree | The arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor. | 0.249618745 | 2001 | VWF | 12 | 6019475 | G | A |
| rs61749397 | 20200350 | 7450 | VWF | umls:C0042974 | BeFree | We developed a mouse model to study phenotypic consequences of VWD-type 2B mutations in murine VWF: mVWF/R1306Q and mVWF/V1316M. | 0.249618745 | 2010 | VWF | 12 | 6019472 | C | T,G |
| rs61749399 | 17087728 | 7450 | VWF | umls:C0042974 | BeFree | We used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F). | 0.249618745 | 2007 | VWF | 12 | 6019447 | C | G |
| rs61749407 | 17087728 | 7450 | VWF | umls:C0042974 | BeFree | We used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F). | 0.249618745 | 2007 | VWF | 12 | 6019343 | C | T |
| rs61750067 | 17087728 | 7450 | VWF | umls:C0042974 | BeFree | We used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F). | 0.249618745 | 2007 | VWF | 12 | 6019333 | T | G |
| rs61750070 | 18064311 | 7450 | VWF | umls:C0042974 | BeFree | A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis. | 0.249618745 | 2007 | VWF | 12 | 6019303 | A | C |
| rs61750072 | 17087728 | 7450 | VWF | umls:C0042974 | BeFree | We used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F). | 0.249618745 | 2007 | VWF | 12 | 6019297 | C | T,A |
| rs61750083 | 17087728 | 7450 | VWF | umls:C0042974 | BeFree | We used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F). | 0.249618745 | 2007 | VWF | 12 | 6019145 | T | A |
| rs61750097 | 15219197 | 7450 | VWF | umls:C0042974 | BeFree | A novel type 2A (Group II) von Willebrand disease mutation (L1503Q) associated with loss of the highest molecular weight von Willebrand factor multimers. | 0.249618745 | 2004 | VWF | 12 | 6018910 | A | T,G,C |
| rs61750580 | 22371917 | 7450 | VWF | umls:C0042974 | BeFree | We describe a case of a c.4825G>A (p.Gly1609Arg [Gly846Arg]) missense mutation in the gene encoding von Willebrand factor (vWF) in a Korean patient with von Willebrand disease (vWD) type 2A. | 0.249618745 | 2012 | VWF | 12 | 6018593 | C | T |
| rs61750588 | 17087728 | 7450 | VWF | umls:C0042974 | BeFree | We used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F). | 0.249618745 | 2007 | VWF | 12 | 6018506 | C | T |
| rs61750590 | 17087728 | 7450 | VWF | umls:C0042974 | BeFree | We used human rADAMTS-13-WT to digest 11 full-length recombinant forms of VWF carrying molecular abnormalities identified in patients with VWD type 2A (E1638K and P1648S), type 2B (InsM1303, R1306W, R1308P and V1314F) and type 2M (G1324A, E1359K, K1362T, R1374H and I1425F). | 0.249618745 | 2007 | VWF | 12 | 6018476 | G | A |
| rs61750596 | 19951969 | 1351 | COX8A | umls:C0042974 | BeFree | Factor VIII/von Willebrand factor concentrate was also required for two women with type 2 A von Willebrand's disease with V1665E mutations who had no von Willebrand factor activity change during pregnancy. | 0.014114977 | 2010 | VWF | 12 | 6018424 | A | T |
| rs61750630 | 23446343 | 7450 | VWF | umls:C0042974 | BeFree | VWF-enriched blood samples, obtained by cryoethanol precipitation of plasma from a patient with von Willebrand disease (VWD) homozygous for the C2362F mutation and a normal subject, were submitted to cleavage by recombinant ADAMTS13 under static conditions in the presence of urea. | 0.249618745 | 2013 | VWF | 12 | 5981988 | C | A |
| rs61750630 | 16643449 | 7450 | VWF | umls:C0042974 | BeFree | Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease. | 0.249618745 | 2006 | VWF | 12 | 5981988 | C | A |
| rs61750630 | 10651743 | 7450 | VWF | umls:C0042974 | BeFree | Heightened proteolysis of the von Willebrand factor subunit in patients with von Willebrand disease hemizygous or homozygous for the C2362F mutation. | 0.249618745 | 2000 | VWF | 12 | 5981988 | C | A |
| rs61750630 | 23446343 | 11093 | ADAMTS13 | umls:C0042974 | BeFree | VWF-enriched blood samples, obtained by cryoethanol precipitation of plasma from a patient with von Willebrand disease (VWD) homozygous for the C2362F mutation and a normal subject, were submitted to cleavage by recombinant ADAMTS13 under static conditions in the presence of urea. | 0.00408156 | 2013 | VWF | 12 | 5981988 | C | A |
| rs61750630 | 17109387 | 7450 | VWF | umls:C0042974 | BeFree | A novel null mutation (2908del C in exon 22) of the von Willebrand factor (VWF) gene was identified in compound heterozygosity with the missense mutation G7335T (C2362F) in exon 42 in a propositus from a new family with autosomal recessive von Willebrand disease (VWD). | 0.249618745 | 2007 | VWF | 12 | 5981988 | C | A |
| rs61751288 | 12353070 | 7450 | VWF | umls:C0042974 | BeFree | Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X). | 0.249618745 | 2002 | VWF | 12 | 5976140 | G | A |
| rs61753997 | 10887119 | 7450 | VWF | umls:C0042974 | BeFree | A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion. | 0.249618745 | 2000 | VWF | 12 | 6075392 | G | A |
| rs61754010 | 9714529 | 7450 | VWF | umls:C0042974 | BeFree | A new candidate mutation (N528S) within the von Willebrand factor propeptide identified in a Japanese patient with phenotype IIC of von Willebrand disease. | 0.249618745 | 1998 | VWF | 12 | 6057995 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
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| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001634 | Mitral valve prolapse | MP:0000285 | abnormal heart valve morphology;HP:0001629 | Ventricular septal defect |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002584 | Intestinal bleeding | MP:0000260 | abnormal angiogenesis;HP:0001634 | Mitral valve prolapse |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |