KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 UNIPROT A novel mutation in JARID1C gene associated with mental retardation. 16538222 2006
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 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 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 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 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 Biomarker disease CTD_human
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.910 CausalMutation disease CLINVAR
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 Novel syndromic form of X-linked complicated spastic paraplegia. 10982473 2000
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 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 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 The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. 17320160 2007
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 PosttranslationalModification disease BEFREE Together, these data suggest that inactivation of JARID1C in renal cancer leads to heterochromatin disruption, genomic rearrangement, and aggressive ccRCCs. 26551685 2015
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 Biomarker disease BEFREE Consistent with this, knockdown of JARID1C in 786-O VHL-/- ccRCC cells significantly enhanced tumor growth in a xenograft model, suggesting that JARID1C is tumor suppressive and its mutations are tumor promoting in ccRCC. 21725364 2012
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
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation disease BEFREE DNA was extracted and targeted sequencing was performed on five genes associated with ccRCC (von-Hippel Lindau [VHL], PBRM1, SETD2, BAP1, and KDM5C). 25124064 2014
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation disease BEFREE Although von Hippel-Lindau (VHL) tumor suppressor gene alterations dominate the genetic landscape of clear cell renal cell carcinoma (ccRCC), recent studies have identified new ccRCC genes, including SETD2, KDM6A, KDM5C, BAP1 and PBRM1. 22949125 2013
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 Biomarker disease BEFREE KDM5C and ARID1A were unmethylated in the TCGA 219 ccRCC and 119 adjacent normal specimens. 23644518 2013
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 CausalMutation disease CGI
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation disease BEFREE Combined analysis of three recent large-scale clear cell renal cell carcinoma (CCRCC) mutation sequencing projects identified a significantly increased mutation frequency of PBRM1 and the X chromosome encoded KDM5C in tumors from male patients and BAP1 in tumors from female patients. 26484545 2015