CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
Disease: Mental Retardation, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.010 AlteredExpression disease BEFREE Other genetic diseases are caused by partial dysfunction of multiple Rab proteins resulting from mutations in general regulators of Rab activity; Rab escort protein-1 (choroideremia), Rab geranylgeranyl transferase (Hermansky-Pudlak syndrome) and Rab GDP dissociation inhibitor-alpha (X-linked mental retardation). 11796263 2002