Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Von Willebrand disease, platelet type
CUI: C1280798
Disease: Von Willebrand disease, platelet type
0.820 GeneticVariation BEFREE GPIbα and vWF play a role in megakaryocytopoiesis, thus we aimed to investigate megakaryocyte differentiation and proplatelet-formation in platelet-type von Willebrand disease using megakaryocytes from a patient carrying the Met239Val variant and from mice carrying the Gly233Val variant. 30655369 2019
Von Willebrand disease, platelet type
CUI: C1280798
Disease: Von Willebrand disease, platelet type
0.820 GeneticVariation UNIPROT Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease. 14521605 2003
Von Willebrand disease, platelet type
CUI: C1280798
Disease: Von Willebrand disease, platelet type
0.820 GeneticVariation BEFREE Thus, M239V reproduced the unique functional abnormality of the GPIb/IX complex in platelet-type vWD. 9226170 1997
Von Willebrand disease, platelet type
CUI: C1280798
Disease: Von Willebrand disease, platelet type
0.820 GeneticVariation UNIPROT Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor. 8384898 1993
Von Willebrand disease, platelet type
CUI: C1280798
Disease: Von Willebrand disease, platelet type
0.820 GeneticVariation UNIPROT Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment. 8486780 1993
Von Willebrand disease, platelet type
CUI: C1280798
Disease: Von Willebrand disease, platelet type
0.820 GeneticVariation UNIPROT Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. 2052556 1991
Von Willebrand disease, platelet type
CUI: C1280798
Disease: Von Willebrand disease, platelet type
0.820 CausalMutation CLINVAR
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Impaired ristocetin-induced platelet aggregation
CUI: C4023154
Disease: Impaired ristocetin-induced platelet aggregation
0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019