KDM5C, lysine demethylase 5C, 8242

N. diseases: 18; N. variants: 29
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
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
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
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
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
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
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
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
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
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
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
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
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
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
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
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
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
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
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
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
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
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
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
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
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		0.910 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
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
CUI: C3714756
Disease: Intellectual Disability
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
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.600 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker group CTD_human A de novo paradigm for mental retardation. 21076407 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker group GENOMICS_ENGLAND Mutation analysis of the JARID1C gene was conducted in the following cohorts: probands from 23 XLMR families linked to Xp11.2, 92 males with mental retardation and short stature, and 172 probands from small XLMR families with no linkage information. 18697827 2008
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.600 CausalMutation disease CGI
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.440 Biomarker disease CTD_human The JARID1C-regulated genes SCN2A, CACNA1H, BDNF, and SLC18A1 have previously been associated with autism and cognitive dysfunction. 18203167 2008
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease GENOMICS_ENGLAND Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.330 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.330 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016