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: 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: 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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease GENOMICS_ENGLAND Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation disease BEFREE We describe a nondysmorphic patient with developmental delay and autism spectrum disorder who has a missense mutation in the Jumonji AT-rich interactive domain 1C (JARID1C) gene. 18203167 2008
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 CausalMutation disease CLINVAR
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 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 Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
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: 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: 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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.310 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 Biomarker phenotype GENOMICS_ENGLAND Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 GeneticVariation phenotype BEFREE We describe a nondysmorphic patient with developmental delay and autism spectrum disorder who has a missense mutation in the Jumonji AT-rich interactive domain 1C (JARID1C) gene. 18203167 2008
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: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		0.300 Biomarker disease CLINGEN A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation. 26804915 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