GP9, glycoprotein IX platelet, 2815

N. diseases: 46; N. variants: 9
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: rs121918038
rs121918038
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.710 GeneticVariation UNIPROT 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
dbSNP: rs121918038
rs121918038
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.710 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
dbSNP: rs121918038
rs121918038
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.710 GeneticVariation UNIPROT Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. 11167791 2001
dbSNP: rs121918038
rs121918038
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.710 GeneticVariation UNIPROT [A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient]. 11758225 2001
dbSNP: rs121918038
rs121918038
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.710 GeneticVariation UNIPROT Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome. 10583255 1999
dbSNP: rs121918038
rs121918038
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.710 GeneticVariation UNIPROT A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. 9886312 1998
dbSNP: rs121918038
rs121918038
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.710 GeneticVariation UNIPROT A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. 9163595 1997
dbSNP: rs121918038
rs121918038
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.710 GeneticVariation UNIPROT Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. 8481514 1993