Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation UNIPROT Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families. 10089893

1999
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation UNIPROT Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein. 9639514

1998
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation UNIPROT Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder. 9116284

1997
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation 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
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation UNIPROT Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome. 7819107

1994
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation UNIPROT Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. 7690774

1993
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GeneticVariation 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
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease: Bernard-Soulier Syndrome
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
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.800 GeneticVariation UNIPROT Ala139 Thr mutation of the GPIX gene in this patient is a novel missense mutation, which has not been reported in BSS. 11758225

2001
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease: Bernard-Soulier Syndrome
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
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.800 GeneticVariation UNIPROT Transient transfection studies confirmed that mutant GPIX was not expressed on the transfected cells, showing that the mutation was responsible for the BSS phenotype observed in the patient. 10583255

1999
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease: Bernard-Soulier Syndrome
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
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.800 GeneticVariation UNIPROT We investigated the molecular basis of another case of BSS with a deficient expression of GPIX, as detected by immunofluorescence studies. 9163595

1997
Entrez Id: 2815
Gene Symbol: GP9
GP9
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.800 GeneticVariation UNIPROT We propose that expression of abnormal GPIX prevents stable assembly of the GPIb/IX complex, causing BSS in the doubly heterozygous individuals in this family. 8481514

1993