GP1BB, glycoprotein Ib platelet subunit beta, 2812

N. diseases: 192; N. variants: 7
Disease: Autosomal dominant macrothrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		0.310 GeneticVariation disease BEFREE Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. 28064200 2017
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		0.310 GermlineCausalMutation disease ORPHANET Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. 28064200 2017