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
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 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
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 GeneticVariation group BEFREE Mutations in KDM5C are an important cause of X-linked intellectual disability in males. 25666439 2015
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 To investigate associations between computed tomographic (CT) features of clear cell renal cell carcinoma (RCC) and mutations in VHL, PBRM1, SETD2, KDM5C, or BAP1 genes. 24029645 2014
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 Biomarker disease BEFREE Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma. 24166983 2014
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
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
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
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
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
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 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 Biomarker group CTD_human A de novo paradigm for mental retardation. 21076407 2010
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 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 GeneticVariation group BEFREE A novel mutation in JARID1C gene associated with mental retardation. 16538222 2006
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 CausalMutation disease CGI
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.440 AlteredExpression disease BEFREE The KDM5C-3'UTR-lncRNA isoform was differentially expressed in autistic females with XCI skewness compared with controls. 31087518 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.440 Biomarker disease BEFREE Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability. 29670509 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.440 Biomarker disease 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