MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
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 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
Biomarker
|
disease |
MGD |
A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation.
|
26804915 |
2016 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
|
26919706 |
2016 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
|
26919706 |
2016 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
|
25666439 |
2015 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
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
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
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
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
|
18697827 |
2008 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.
|
17468742 |
2007 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.
|
17320160 |
2007 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in JARID1C gene associated with mental retardation.
|
16538222 |
2006 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
|
16541399 |
2006 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
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 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
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 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel syndromic form of X-linked complicated spastic paraplegia.
|
10982473 |
2000 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
Biomarker
|
disease |
CTD_human |
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
|
|
|