ITGA2B, integrin subunit alpha 2b, 3674

N. diseases: 215; N. variants: 36
Disease: Macrothrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.130 GeneticVariation disease BEFREE We reviewed the literature of congenital macrothrombocytopenia associated with heterozygous ITGA2B or ITGB3 mutations. 29380037 2018
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.130 GeneticVariation disease BEFREE Mutations of the integrin αIIb/β3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet α-granules. 29090484 2018
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.130 GeneticVariation disease BEFREE Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. 21454453 2011
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.130 Biomarker disease HPO