RBM8A, RNA binding motif protein 8A, 9939

N. diseases: 99; N. variants: 5
Disease: Thrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.110 GeneticVariation phenotype BEFREE Reduced expression of the Y14 gene is a cause of Thrombocytopenia-absent radius (TAR) syndrome. 30826064 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.110 Biomarker phenotype HPO