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: 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
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: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. 25666439 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. 25666439 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature. 24583395 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. 23999528 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature. 24583395 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. 23999528 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. 19826449 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. 19826449 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD). 18203167 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD). 18203167 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. 17320160 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. 17320160 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. 17468742 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. 17468742 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. 16541399 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. 16541399 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 15586325 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 15586325 2005