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: 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