GP1BA, glycoprotein Ib platelet subunit alpha, 2811

N. diseases: 132; N. variants: 20
Disease: Bernard-Soulier Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 Biomarker disease CTD_human
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 CausalMutation disease CLINVAR
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease BEFREE Bernard-Soulier syndrome (BSS) is an extremely rare form of platelet adhesion disorder caused by genetic changes occurring in the glycoprotein genes GPIbα, GPIbβ and GPIX with autosomal recessive inheritance pattern. 23402648 2013
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease BEFREE Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome. 7819107 1994
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease BEFREE A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis. 21993687 2011
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease BEFREE A Case of Bernard-Soulier Syndrome due to a Novel Homozygous Missense Mutation in an Exon of the GP1BA Gene. 31302646 2020
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease BEFREE A Novel Homozygous c.800C>G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome. 26044173 2015
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease BEFREE A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia. 26849716 2017
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease BEFREE A novel mutation in the GP1BA gene in Bernard-Soulier syndrome. 31789661 2020
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease UNIPROT A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I). 7873390 1995
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease BEFREE An autosomal dominant mode of inheritance, a family history of mild bleeding episodes, aggregation pattern in affected individuals together with evidence of mutation occurring in part of the GP1BA gene encoding the leucine-rich repeat region suggest a novel variant causing monoallelic Bernard-Soulier syndrome. 30332551 2018
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Bernard-Soulier syndrome. 21357716 2011
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease BEFREE Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome. 11776304 2001
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease LHGDN Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome. 11776304 2001
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease UNIPROT Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome. 7819107 1994
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 Biomarker disease BEFREE During this study, we identified the genetic basis of a very rare double heterozygous GP1b deficiency in a BSS patient, along with a new homozygous GP1b inactivating mutation in another BSS patient. 23300803 2012
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 Biomarker disease MGD Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome. 10706630 2000
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease LHGDN Genetic abnormalities of Bernard-Soulier syndrome. 12463594 2002
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease LHGDN Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran. 17763149 2007
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GermlineCausalMutation disease ORPHANET Genetics of familial forms of thrombocytopenia. 22886561 2012
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 Biomarker disease BEFREE In this study, we examined the efficacy of this strategy for the gene therapy of BSS using GPIbα(null) as a murine model of BSS. 22044935 2012
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease UNIPROT Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families. 10089893 1999
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease UNIPROT Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease. 1730088 1992
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease UNIPROT Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein. 9639514 1998