Disease: Macrothrombocytopenia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
0.010 GeneticVariation BEFREE However, some years ago it was shown that the monoallelic c.515C>T transition in the GPIBA gene (Bolzano mutation) was responsible for macrothrombocytopenia in a few Italian patients. 21933849 2012