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 		G 0.870 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs5030764
rs5030764
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.870 GeneticVariation BEFREE Generation of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene. 27934591 2016
dbSNP: rs5030764
rs5030764
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		G 0.870 CausalMutation CLINVAR Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study. 25370924 2015
dbSNP: rs5030764
rs5030764
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.870 GeneticVariation BEFREE Haplotype analysis revealed that the family had the same disease haplotype associated with the GPIX N45S commonly found in Northern European BSS. 17804902 2007
dbSNP: rs5030764
rs5030764
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.870 GeneticVariation BEFREE Association of the 1828A>G Asn45Ser mutation with variant haplotypes in 4 other Northern European BSS families raised the possibility of a second founder event, or rare recombinations in these families. 16268478 2005
dbSNP: rs5030764
rs5030764
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.870 GeneticVariation BEFREE Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. 15609295 2005
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: rs5030764
rs5030764
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.870 GeneticVariation BEFREE Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome. 11297032 2001
dbSNP: rs5030764
rs5030764
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.870 GeneticVariation BEFREE Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families. 10227459 1999
dbSNP: rs5030764
rs5030764
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		G 0.870 CausalMutation CLINVAR Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX. 8049428 1994
dbSNP: rs5030764
rs5030764
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		G 0.870 CausalMutation CLINVAR Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. 8481514 1993
dbSNP: rs5030764
rs5030764
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		G 0.870 GeneticVariation CLINVAR Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. 8481514 1993
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 		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: rs28933378
rs28933378
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.800 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: rs28933378
rs28933378
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.800 GeneticVariation UNIPROT Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. 11167791 2001
dbSNP: rs28933378
rs28933378
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.800 GeneticVariation UNIPROT Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome. 10583255 1999
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: 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
dbSNP: rs28933378
rs28933378
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.800 GeneticVariation UNIPROT Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. 8481514 1993
dbSNP: rs28933378
rs28933378
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs121918037
rs121918037
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.730 GeneticVariation BEFREE In this work we have generated an induced pluripotent stem cell (BSS3-PBMC-iPS4F8) from peripheral blood mononuclear cells of a BSS patient with a p.Phe55Ser mutation in the GPIX gene. 28395735 2017
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: rs121918037
rs121918037
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.730 GeneticVariation UNIPROT [A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient]. 11758225 2001