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: rs1057518697
rs1057518697
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		A 0.800 GeneticVariation CLINVAR Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C. 23356856 2013
dbSNP: rs1057518697
rs1057518697
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		0.800 GeneticVariation UNIPROT
dbSNP: rs199422234
rs199422234
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs199422234
rs199422234
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		0.800 GeneticVariation UNIPROT
dbSNP: rs199422235
rs199422235
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		0.800 GeneticVariation UNIPROT
dbSNP: rs199422235
rs199422235
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		G 0.800 CausalMutation CLINVAR
dbSNP: rs199422237
rs199422237
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		0.800 GeneticVariation UNIPROT
dbSNP: rs199422237
rs199422237
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		C 0.800 CausalMutation CLINVAR
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: rs1057517955
rs1057517955
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 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: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 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: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 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 Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 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: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 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: rs199422235
rs199422235
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
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 intellectual disability gene KDM5C reduce protein stability and demethylase activity. 25666439 2015
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. 25666439 2015
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. 25666439 2015
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. 25666439 2015
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. 25666439 2015