ITGB3, integrin subunit beta 3, 3690

N. diseases: 260; N. variants: 44
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 		0.510 GeneticVariation disease BEFREE A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction. 29380037 2018
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		0.510 GermlineCausalMutation disease ORPHANET This novel autosomal dominant macrothrombocytopenia associated with platelet dysfunction raises interesting questions about the role of integrin beta(3), and its betaTD domain, in platelet formation and function. 19336737 2009
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		0.510 GermlineCausalMutation disease ORPHANET A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia. 18065693 2008
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		0.510 Biomarker disease MGD Beta3 integrin deficiency promotes cardiac hypertrophy and inflammation. 17184791 2007
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		0.510 Biomarker disease MGD Enhanced pathological angiogenesis in mice lacking beta3 integrin or beta3 and beta5 integrins. 11786903 2002
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		0.510 Biomarker disease MGD Beta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival. 9916135 1999