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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 AlteredExpression group BEFREE Interestingly, mutations in all four genes (KDM5C, ARX, ZNF711 and PHF8) are associated with X-linked NDDs comprising intellectual disability as a core feature. in vitro analysis of the KDM5C promoter revealed that ARX and ZNF711 function as antagonist transcription factors that activate KDM5C expression and compete for the recruitment of PHF8. 31691806 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.020 AlteredExpression group BEFREE Interestingly, mutations in all four genes (KDM5C, ARX, ZNF711 and PHF8) are associated with X-linked NDDs comprising intellectual disability as a core feature. in vitro analysis of the KDM5C promoter revealed that ARX and ZNF711 function as antagonist transcription factors that activate KDM5C expression and compete for the recruitment of PHF8. 31691806 2019
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: 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 AlteredExpression disease BEFREE In this study, we reported that KDM5C was highly expressed in PCa and CRPC specimens, and the high expression promoted CRPC cell proliferation through repressing phosphatase and tensin homolog (PTEN) gene epigenetically. 30921702 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 AlteredExpression disease BEFREE In this study, we reported that KDM5C was highly expressed in PCa and CRPC specimens, and the high expression promoted CRPC cell proliferation through repressing phosphatase and tensin homolog (PTEN) gene epigenetically. 30921702 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker group 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 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: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.010 Biomarker disease BEFREE KDM5C could play a role in the neurocognitive development of Turner and Klinefelter syndrome. 30811826 2019
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		0.010 Biomarker disease BEFREE KDM5C could play a role in the neurocognitive development of Turner and Klinefelter syndrome. 30811826 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation group BEFREE Recurrent mutations in chromatin-modifying genes, KMT2C and KDM5C, were detected in two of nine tumors. 30622286 2019
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 Biomarker group BEFREE KDM5C is known to be associated with X-linked mental retardation and is also involved in the development of cancer. 30522514 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 Biomarker group BEFREE KDM5C is known to be associated with X-linked mental retardation and is also involved in the development of cancer. 30522514 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 Biomarker group BEFREE KDM5c might downregulate ABCC1 expression by demethylating the ABCC1 H3K4me3 in the TSS region, which can promote multidrug resistance, such that inhibiting KDM5c could decrease multidrug cancer cell resistance. 30257334 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 Biomarker group BEFREE KDM5c might downregulate ABCC1 expression by demethylating the ABCC1 H3K4me3 in the TSS region, which can promote multidrug resistance, such that inhibiting KDM5c could decrease multidrug cancer cell resistance. 30257334 2018
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		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: 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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.310 GeneticVariation disease BEFREE Renal cell carcinomas (RCCs) are a diverse set of malignancies that have recently been shown to harbour mutations in a number of chromatin modifier genes - including PBRM1, SETD2, BAP1, KDM5C, KDM6A, and MLL2 - through high-throughput sequencing efforts. 30030490 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE We also identified two genes significantly associated with melanoma metastasis to the regional lymph nodes (PIK3CG and IL2RA), and two genes significantly associated with sex (KDM5C and KDM6A). 29975213 2018
CUI: C0025202
Disease: melanoma
melanoma 		0.010 Biomarker disease BEFREE We also identified two genes significantly associated with melanoma metastasis to the regional lymph nodes (PIK3CG and IL2RA), and two genes significantly associated with sex (KDM5C and KDM6A). 29975213 2018
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: 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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 AlteredExpression group BEFREE Moreover, we found that HPV16-positive cancer cell lines exhibited lower KDM5C protein levels than HPV-negative cancer cell lines. 29339538 2018