Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glanzmann Thrombasthenia, Autosomal Dominant
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
0.700 CausalMutation CLINVAR
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
0.010 GeneticVariation BEFREE These findings suggest a model whereby the integrin β3-L718P mutation contributes to thrombocytopenia through gain-of-function mechanisms. 23253071 2013
THROMBOCYTOPENIA 2 (disorder)
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
0.010 GeneticVariation BEFREE Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis. 23253071 2013