Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 GermlineCausalMutation ORPHANET Genetics of familial forms of thrombocytopenia. 22886561

2012
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C3853779
Disease: Neonatal Alloimmune Thrombocytopenia
Neonatal Alloimmune Thrombocytopenia 		0.400 GeneticVariation ORPHANET

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		0.310 GermlineCausalMutation ORPHANET Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. 28064200

2017
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.310 ChromosomalRearrangement ORPHANET

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.310 ChromosomalRearrangement ORPHANET

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.300 ChromosomalRearrangement ORPHANET

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		0.300 ChromosomalRearrangement ORPHANET

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		0.300 ChromosomalRearrangement ORPHANET

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		0.300 ChromosomalRearrangement ORPHANET

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C3854603
Disease: FNAITP
FNAITP 		0.300 GeneticVariation ORPHANET