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: 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
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.330 AlteredExpression disease BEFREE Furthermore, the presence of infantile seizures in the second family suggests a potential role of increased KDM5C expression on epilepsy. 25652354 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.330 Biomarker disease BEFREE Here we show that JARID1C/SMCX, a JmjC-domain-containing protein implicated in X-linked mental retardation and epilepsy, possesses H3K4 tri-demethylase activity and functions as a transcriptional repressor. 17468742 2007
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.330 Biomarker disease GENOMICS_ENGLAND Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008