KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
Disease: Mental Retardation, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.100 Biomarker disease BEFREE KDM5C is known to be associated with X-linked mental retardation and is also involved in the development of cancer. 30522514 2018
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.100 GeneticVariation disease BEFREE Mutations in KDM5C gene are linked to X-linked mental retardation, the syndromic Claes-Jensen-type disease. 26580603 2015
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.100 AlteredExpression disease BEFREE The JARID1C is a histone demethylase that promotes cancer cell growth and is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 26182878 2015
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.100 GeneticVariation disease BEFREE 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: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.100 Biomarker disease BEFREE We propose that loss of SMCX activity impairs REST-mediated neuronal gene regulation, thereby contributing to SMCX-associated X-linked mental retardation. 17468742 2007
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.100 AlteredExpression disease LHGDN We propose that loss of SMCX activity impairs REST-mediated neuronal gene regulation, thereby contributing to SMCX-associated X-linked mental retardation. 17468742 2007
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.100 Biomarker disease LHGDN Significantly, several XLMR-patient point mutations reduced SMCX demethylase activity and binding to H3K9me3 peptides, respectively. 17320160 2007
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.100 GeneticVariation disease BEFREE Here, we report five novel JARID1C mutations in five XLMR families. 16541399 2006
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.100 Biomarker disease BEFREE Our data highlights the importance of reporting mutations in this gene since it might support the recent findings that implicates JARID1C with XLMR. 16538222 2006
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.100 GeneticVariation disease LHGDN Here, we report five novel JARID1C mutations in five XLMR families. 16541399 2006
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.100 Biomarker disease LHGDN Our data highlights the importance of reporting mutations in this gene since it might support the recent findings that implicates JARID1C with XLMR. 16538222 2006
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.100 GeneticVariation disease BEFREE Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 15586325 2005
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.100 Biomarker disease BEFREE Gene localization was determined by linkage analysis in 5 families with non-specific X-linked mental retardation (MRX) and were MRX1, Xp11.4-q21.31; MRX10, Xp21.3-p11.4; MRX11, Xp21.3-p11.22; MRX12, Xp21.3-q21.1; and MRX13, Xp22.3-q21.22. 1605217 1992