ANO2, anoctamin 2, 57101

N. diseases: 20; N. variants: 7
Disease: von Willebrand Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751311
rs61751311
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C0042974
Disease:
von Willebrand Disease 		0.010 GeneticVariation BEFREE However, one cysteine mutation, p.Cys2773Ser, has been found in patients with type 2A(IID) von Willebrand's disease who have normal plasma levels of von Willebrand factor. 22207689 2012
dbSNP: rs267607369
rs267607369
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C0042974
Disease:
von Willebrand Disease 		0.010 GeneticVariation BEFREE In conclusion, the mutation A2801D appears to be responsible for a recessive type 2A, subtype IID, VWD. 16676067 2006
dbSNP: rs61751310
rs61751310
Entrez Id: 7450;57101
Gene Symbol: VWF;ANO2
VWF;ANO2
CUI: C0042974
Disease:
von Willebrand Disease 		0.010 GeneticVariation BEFREE To prove this hypothesis, transient recombinant expression of each of the 2 mutations introduced in the carboxy-terminal vWF fragment II and in the complete vWF complementary DNA, respectively, were carried out in COS-7 cells and compared with expression of vWD 2A/IID mutation C2773R and the wild-type (WT) sequence in COS-7 cells. 11264172 2001