rs104894809, GATA1

N. diseases: 9
Disease: THROMBOCYTOPENIA 1 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
THROMBOCYTOPENIA 1 (disorder)
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
0.020 GeneticVariation BEFREE Alterations of the FOG-1 face are responsible for dyserythropoietic anemia with thrombocytopenia while R216Q, the only mutation identified in the DNA face, induces X-linked thrombocytopenia with thalassemia (XLTT). 14691578 2004
THROMBOCYTOPENIA 1 (disorder)
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
0.020 GeneticVariation BEFREE We report here that a syndrome of X-linked thrombocytopenia with thalassemia in humans is caused by a missense mutation (Arg216Gln) in the GATA-1 N finger. 12200364 2002