KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517955
rs1057517955
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. 17320160 2007
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. 17320160 2007
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. 17320160 2007
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. 17320160 2007
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. 17320160 2007
dbSNP: rs199422235
rs199422235
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. 17320160 2007
dbSNP: rs1057517955
rs1057517955
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. 17468742 2007
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. 17468742 2007
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. 17468742 2007
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. 17468742 2007
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. 17468742 2007
dbSNP: rs199422235
rs199422235
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. 17468742 2007
dbSNP: rs1057517955
rs1057517955
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells. 27421841 2016
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells. 27421841 2016
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells. 27421841 2016
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells. 27421841 2016
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells. 27421841 2016
dbSNP: rs199422235
rs199422235
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells. 27421841 2016
dbSNP: rs1057517955
rs1057517955
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. 16541399 2006
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. 16541399 2006
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. 16541399 2006
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. 16541399 2006
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. 16541399 2006
dbSNP: rs199422235
rs199422235
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. 16541399 2006
dbSNP: rs1057517955
rs1057517955
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 15586325 2005