GP5, glycoprotein V platelet, 2814

N. diseases: 10; N. variants: 2
Disease: Bernard-Soulier Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776621159
rs776621159
Entrez Id: 2814
Gene Symbol: GP5
GP5
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.010 GeneticVariation BEFREE A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex. 12100158 2002