RBM8A, RNA binding motif protein 8A, 9939

N. diseases: 99; N. variants: 5
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group BEFREE UPF3B and RBM8A, important components of NMD, have been implicated in various forms of intellectual disability (ID) and Thrombocytopenia with Absent Radius (TAR) syndrome, which is also associated with ID. 23376982 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE Recent genetic study indicated that RBM8a gain-of-function significantly associated with intellectual disability [7]. 23638902 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group HPO