RAB40AL, RAB40A like, 282808

N. diseases: 18; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.020 GeneticVariation disease BEFREE Our findings are inconsistent with a causative effect of RAB40AL p.D59G on cognitive impairment combined with severe to profound bilateral hearing loss but indicate that p.D59G is a common genetic variation. 25370018 2015
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.020 Biomarker disease BEFREE Our results demonstrate an association between cognitive impairment and a defect in a signalling pathway that depends on a Ras-like GTPase. 9582072 1998