rs1468772495, C12orf4

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
CUI: C4748732
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
0.800 GeneticVariation UNIPROT Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. 28097321 2017
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
CUI: C4748732
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
0.800 GeneticVariation UNIPROT Identification of C12orf4 as a gene for autosomal recessive intellectual disability. 27311568 2017
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
CUI: C4748732
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
0.800 GeneticVariation UNIPROT Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
CUI: C4748732
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
0.800 CausalMutation CLINVAR