KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518697
rs1057518697
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		A 0.800 GeneticVariation CLINVAR Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C. 23356856 2013
dbSNP: rs1057518697
rs1057518697
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		0.800 GeneticVariation UNIPROT