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: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.010 Biomarker disease BEFREE A recent large-scale screen of ∼3,500 genes by PCR-based exon re-sequencing identified several new cancer genes in ccRCC including UTX (also known as KDM6A), JARID1C (also known as KDM5C) and SETD2 (ref.2). 21248752 2011
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		0.100 Biomarker disease HPO
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.020 Biomarker disease BEFREE Loss-of-function mutations in the histone demethylases KDM5A, KDM5B, or KDM5C are found in intellectual disability (ID) and autism spectrum disorders (ASD) patients. 30902578 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.020 GeneticVariation disease BEFREE A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD). 18203167 2008
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
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE Silencing JARID1C in breast cancer cells could inhibit cell migration and invasion. 26182878 2015
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		0.100 Biomarker disease HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE We propose that RACK7/KDM5C functions as an enhancer "brake" to ensure appropriate enhancer activity, which, when compromised, could contribute to tumorigenesis. 27058665 2016
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 Biomarker disease BEFREE Ten de novo mutations in three previously identified disease genes (TUBA1A (n=2), SCN8A (n=1) and KDM5C (n=1)) and in six novel candidate CP genes (AGAP1, JHDM1D, MAST1, NAA35, RFX2 and WIPI2) were predicted to be potentially pathogenic for CP. 25666757 2015
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		0.100 Biomarker disease HPO
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		0.100 Biomarker disease HPO
CUI: C1266044
Disease: Collecting Duct Carcinoma of the Kidney
Collecting Duct Carcinoma of the Kidney 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 AlteredExpression disease BEFREE KDM5c expression upregulation in colon cancer cells had significantly reduced L-OHP and CPT-11½ inhibitory concentrations (IC50 s) and decreased the ABCC1mRNA and protein expression. 30257334 2018
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO