KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
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 		0.800 GeneticVariation UNIPROT
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: rs199422235
rs199422235
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		0.800 GeneticVariation UNIPROT
dbSNP: rs199422235
rs199422235
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		G 0.800 CausalMutation CLINVAR
dbSNP: rs199422237
rs199422237
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		0.800 GeneticVariation UNIPROT
dbSNP: rs199422237
rs199422237
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057518697
rs1057518697
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0037772
Disease:
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519393
rs1057519393
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs1057519393
rs1057519393
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1843367
Disease:
Poor school performance 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs1060499661
rs1060499661
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692227
rs1131692227
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0265529
Disease:
Plagiocephaly 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692227
rs1131692227
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0557874
Disease:
Global developmental delay 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692227
rs1131692227
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0079352
Disease:
Congenital torticollis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692227
rs1131692227
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0454644
Disease:
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692227
rs1131692227
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C4022737
Disease:
Neurodevelopmental abnormality 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692227
rs1131692227
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1556842184
rs1556842184
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1556852362
rs1556852362
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1569258293
rs1569258293
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1569278313
rs1569278313
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1569278313
rs1569278313
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1569279367
rs1569279367
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1569285361
rs1569285361
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1569285562
rs1569285562
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0037772
Disease:
Spastic Paraplegia 		C 0.700 GeneticVariation CLINVAR Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. 25666439 2015
dbSNP: rs1569285562
rs1569285562
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0037772
Disease:
Spastic Paraplegia 		C 0.700 GeneticVariation CLINVAR A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability. 22326837 2012