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 GeneticVariation disease BEFREE Several point mutations and deletions affecting the GPIb alpha gene have been identified as the cause of BSS, whilst in four BSS families a GPIX gene defect has been reported. 9163595 1997
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 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 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 UNIPROT Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. 7690774 1993
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation disease BEFREE Recently several mutations have been described in the platelet GPIb alpha gene in individuals exhibiting the BSS phenotype. 8481514 1993
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 Biomarker disease GENOMICS_ENGLAND Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome. 2308962 1990
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