RAB40AL, RAB40A like, 282808

N. diseases: 18; N. variants: 1
Disease: Martin-Probst Deafness-Mental Retardation Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845285
Disease: Martin-Probst Deafness-Mental Retardation Syndrome
Martin-Probst Deafness-Mental Retardation Syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. 26300074 2015
CUI: C1845285
Disease: Martin-Probst Deafness-Mental Retardation Syndrome
Martin-Probst Deafness-Mental Retardation Syndrome 		0.600 GeneticVariation disease UNIPROT Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. 22581972 2012
CUI: C1845285
Disease: Martin-Probst Deafness-Mental Retardation Syndrome
Martin-Probst Deafness-Mental Retardation Syndrome 		0.600 Biomarker disease CTD_human Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. 22581972 2012