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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 GeneticVariation group BEFREE A novel mutation in JARID1C gene associated with mental retardation. 16538222 2006
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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 GeneticVariation group LHGDN 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 Biomarker group BEFREE Intriguingly, mutations within the genes encoding the H3K9-specific methyltransferase, EHMT1, and the H3K4-specific histone demethylase, JARID1C/SMCX, have been linked to mental retardation and autism, respectively. 18814864 2009
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 GeneticVariation group BEFREE In this study, we describe clinical and genetic findings of a Brazilian family co-segregating a novel nonsense mutation (c.2172C>A) in exon 15 of KDM5C gene with the intellectual disability phenotype. 21575681 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 GeneticVariation group BEFREE A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability. 22326837 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 Biomarker group BEFREE A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 23246292 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 GeneticVariation group BEFREE To access the impact of KDM5C variants on XLID, a cohort of 143 males with a family history of intellectual disability (ID) suggestive of X-linked inheritance were enrolled. 24583395 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 Biomarker group BEFREE Some genes were hit more than once in our cohort, suggesting they correspond to more frequent ID-associated conditions (KDM5C, MECP2, DYRK1A, TCF4). 25167861 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 GeneticVariation group BEFREE Mutations in KDM5C are an important cause of X-linked intellectual disability in males. 25666439 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 GeneticVariation group BEFREE Here, we report on a female patient with severe ID and autistic features carrying a de novo 0.4 Mb deletion containing six coding genes including KDM5C and IQSEC2. 25858702 2015
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: C3714756
Disease: Intellectual Disability
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
CUI: C3714756
Disease: Intellectual Disability
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
CUI: C3714756
Disease: Intellectual Disability
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
CUI: C3714756
Disease: Intellectual Disability
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