GP9, glycoprotein IX platelet, 2815

N. diseases: 46; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030764
rs5030764
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.870 GeneticVariation UNIPROT
dbSNP: rs28933378
rs28933378
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs121918036
rs121918036
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C1856448
Disease:
Bernard-Soulier Syndrome, Type C 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121918037
rs121918037
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C1856448
Disease:
Bernard-Soulier Syndrome, Type C 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121918038
rs121918038
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C1856448
Disease:
Bernard-Soulier Syndrome, Type C 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1297298519
rs1297298519
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C2751260
Disease:
Macrothrombocytopenia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs28933377
rs28933377
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C1856448
Disease:
Bernard-Soulier Syndrome, Type C 		C 0.700 CausalMutation CLINVAR
dbSNP: rs28933378
rs28933378
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C1856448
Disease:
Bernard-Soulier Syndrome, Type C 		C 0.700 CausalMutation CLINVAR
dbSNP: rs5030764
rs5030764
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C1856448
Disease:
Bernard-Soulier Syndrome, Type C 		G 0.700 CausalMutation CLINVAR
dbSNP: rs5030764
rs5030764
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.870 GeneticVariation BEFREE Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany. 14510954 2003
dbSNP: rs5030764
rs5030764
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		G 0.870 CausalMutation CLINVAR Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany. 14510954 2003
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: rs121918037
rs121918037
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.730 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: rs121918037
rs121918037
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.730 GeneticVariation BEFREE 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: rs28933378
rs28933378
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.800 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: rs121918037
rs121918037
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.730 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: rs121918036
rs121918036
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.700 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: rs28933377
rs28933377
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.700 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: rs28933378
rs28933378
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.800 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: rs121918037
rs121918037
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.730 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 new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. 9886312 1998
dbSNP: rs121918036
rs121918036
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.700 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: rs28933377
rs28933377
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.700 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: rs28933378
rs28933378
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.800 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