|
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 |
|
|
|
|
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
BEFREE |
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation.
|
31419599 |
2020 |
|
Intellectual Disability
|
0.600 |
AlteredExpression
|
group |
BEFREE |
Interestingly, mutations in all four genes (KDM5C, ARX, ZNF711 and PHF8) are associated with X-linked NDDs comprising intellectual disability as a core feature. in vitro analysis of the KDM5C promoter revealed that ARX and ZNF711 function as antagonist transcription factors that activate KDM5C expression and compete for the recruitment of PHF8.
|
31691806 |
2019 |
|
Intellectual Disability
|
0.600 |
Biomarker
|
group |
BEFREE |
Loss-of-function mutations in the histone demethylases KDM5A, KDM5B, or KDM5C are found in intellectual disability (ID) and autism spectrum disorders (ASD) patients.
|
30902578 |
2019 |
|
Intellectual Disability
|
0.600 |
GeneticVariation
|
group |
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 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BAP1 negatively affected OS, whereas SETD2 and KDM5C mutations were associated with prolonged OS in our pooled cohort of 167 patients with metastatic ccRCC.
|
28408295 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
We excluded the samples that had any of the five high-confidence driver genes (VHL, BAP1, SETD2, PTEN and KDM5C) reported in ccRCC to avoid their possible influence in our results.
|
27556922 |
2016 |
|
Intellectual Disability
|
0.600 |
Biomarker
|
group |
GENOMICS_ENGLAND |
We investigated a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole-exome sequencing.
|
26919706 |
2016 |
|
Intellectual Disability
|
0.600 |
Biomarker
|
group |
GENOMICS_ENGLAND |
We investigated a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole-exome sequencing.
|
26919706 |
2016 |