RBM8A, RNA binding motif protein 8A, 9939

N. diseases: 99; N. variants: 5
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.300 Biomarker disease GENOMICS_ENGLAND Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. 17236129 2007