Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
0.800 GeneticVariation UNIPROT Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. 22541562 2012
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
0.800 GeneticVariation UNIPROT Mutations in NSUN2 cause autosomal-recessive intellectual disability. 22541559 2012
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
0.800 CausalMutation CLINVAR