rs1057518697, KDM5C

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.800 GeneticVariation CLINVAR Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C. 23356856 2013
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.800 GeneticVariation UNIPROT
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
0.700 CausalMutation CLINVAR