Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Glanzmann Thrombasthenia, Autosomal Dominant
0.900 GeneticVariation disease UNIPROT A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction. 29380037 2018
Glanzmann Thrombasthenia, Autosomal Dominant
0.900 Biomarker disease GENOMICS_ENGLAND AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 20020534 2010
Glanzmann Thrombasthenia, Autosomal Dominant
0.900 Biomarker disease GENOMICS_ENGLAND Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. 19336737 2009
Glanzmann Thrombasthenia, Autosomal Dominant
0.900 GeneticVariation disease UNIPROT 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
Glanzmann Thrombasthenia, Autosomal Dominant
0.900 Biomarker disease MGD Beta3 integrin deficiency promotes cardiac hypertrophy and inflammation. 17184791 2007
Glanzmann Thrombasthenia, Autosomal Dominant
0.900 Biomarker disease MGD Enhanced pathological angiogenesis in mice lacking beta3 integrin or beta3 and beta5 integrins. 11786903 2002
Glanzmann Thrombasthenia, Autosomal Dominant
0.900 Biomarker disease MGD Beta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival. 9916135 1999
Glanzmann Thrombasthenia, Autosomal Dominant
0.900 Biomarker disease GENOMICS_ENGLAND
Glanzmann Thrombasthenia, Autosomal Dominant
0.900 CausalMutation disease CLINVAR
Glanzmann Thrombasthenia, Autosomal Dominant
0.900 Biomarker disease CTD_human