RAB18, RAB18, member RAS oncogene family, 22931

N. diseases: 113; N. variants: 4
Disease: Congenital malformation syndromes affecting facial appearance ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432066
Disease: Congenital malformation syndromes affecting facial appearance
Congenital malformation syndromes affecting facial appearance 		0.200 Biomarker disease MGD ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18. 25779931 2015
CUI: C0432066
Disease: Congenital malformation syndromes affecting facial appearance
Congenital malformation syndromes affecting facial appearance 		0.200 Biomarker disease MGD A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton. 24764192 2014