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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		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
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.600 GeneticVariation disease BEFREE Mutations in BAP1 negatively affected OS, whereas SETD2 and KDM5C mutations were associated with prolonged OS in our pooled cohort of 167 patients with metastatic ccRCC. 28408295 2017
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.600 Biomarker disease BEFREE We excluded the samples that had any of the five high-confidence driver genes (VHL, BAP1, SETD2, PTEN and KDM5C) reported in ccRCC to avoid their possible influence in our results. 27556922 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells. 27421841 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells. 27421841 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells. 27421841 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells. 27421841 2016
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: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		0.910 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		0.910 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker group GENOMICS_ENGLAND We investigated a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole-exome sequencing. 26919706 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker group GENOMICS_ENGLAND We investigated a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole-exome sequencing. 26919706 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 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 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 Biomarker phenotype GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 Biomarker phenotype GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.300 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.300 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		0.300 Biomarker phenotype GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		0.300 Biomarker phenotype GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016