×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
GeneticVariation
disease
BEFREE
Mutations in <i>KDM5C</i> cause Mental Retardation, X-linked, Syndromic, Claes-Jensen type (MRXSCJ , OMIM #300534) and are one of the most common causes of X-linked ID.
29670509
2018
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
Biomarker
disease
MGD
A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation.
26804915
2016
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
Biomarker
disease
GENOMICS_ENGLAND
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
26919706
2016
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
GeneticVariation
disease
UNIPROT
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
25666439
2015
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
GeneticVariation
disease
CLINVAR
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
23356856
2013
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
GeneticVariation
disease
UNIPROT
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
23356856
2013
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
Biomarker
disease
GENOMICS_ENGLAND
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
18697827
2008
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
GeneticVariation
disease
UNIPROT
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.
17468742
2007
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
GeneticVariation
disease
UNIPROT
The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.
17320160
2007
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
GeneticVariation
disease
UNIPROT
A novel mutation in JARID1C gene associated with mental retardation.
16538222
2006
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
GeneticVariation
disease
UNIPROT
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
16541399
2006
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
GermlineCausalMutation
disease
ORPHANET
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
15586325
2005
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
GeneticVariation
disease
UNIPROT
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
15586325
2005
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
Biomarker
disease
GENOMICS_ENGLAND
Novel syndromic form of X-linked complicated spastic paraplegia.
10982473
2000
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
Biomarker
disease
CTD_human
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
0.910
CausalMutation
disease
CLINVAR