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: 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 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 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 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
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 GeneticVariation disease CLINVAR 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 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 GeneticVariation disease UNIPROT The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. 17320160 2007
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
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
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
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
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
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: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
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
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
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
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
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 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 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 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 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 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 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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation disease BEFREE We describe a nondysmorphic patient with developmental delay and autism spectrum disorder who has a missense mutation in the Jumonji AT-rich interactive domain 1C (JARID1C) gene. 18203167 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.330 GeneticVariation disease BEFREE A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 23246292 2013