RAB40AL, RAB40A like, 282808

N. diseases: 18; N. variants: 1
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 		0.300 Biomarker disease CTD_human Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. 22581972 2012