KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.440 Biomarker disease CTD_human The JARID1C-regulated genes SCN2A, CACNA1H, BDNF, and SLC18A1 have previously been associated with autism and cognitive dysfunction. 18203167 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.440 Biomarker disease BEFREE The JARID1C-regulated genes SCN2A, CACNA1H, BDNF, and SLC18A1 have previously been associated with autism and cognitive dysfunction. 18203167 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.440 Biomarker disease HPO
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 AlteredExpression disease BEFREE The KDM5C-3'UTR-lncRNA isoform was differentially expressed in autistic females with XCI skewness compared with controls. 31087518 2019