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: rs1569285361
rs1569285361
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
A 0.700 GeneticVariation CLINVAR
dbSNP: rs199422236
rs199422236
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
A 0.700 CausalMutation CLINVAR
dbSNP: rs199422238
rs199422238
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
A 0.700 CausalMutation CLINVAR
dbSNP: rs199422239
rs199422239
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
T 0.700 CausalMutation CLINVAR
dbSNP: rs281860639
rs281860639
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
T 0.700 CausalMutation CLINVAR
dbSNP: rs387906729
rs387906729
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
T 0.700 CausalMutation CLINVAR
dbSNP: rs587780372
rs587780372
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
A 0.700 GeneticVariation CLINVAR
dbSNP: rs782205045
rs782205045
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
T 0.700 CausalMutation CLINVAR
dbSNP: rs782246658
rs782246658
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
A 0.700 CausalMutation CLINVAR
dbSNP: rs878853141
rs878853141
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C0025362
Disease:
Mental Retardation
G 0.700 CausalMutation CLINVAR
dbSNP: rs878853151
rs878853151
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0025362
Disease:
Mental Retardation
CA 0.700 CausalMutation CLINVAR
dbSNP: rs886037836
rs886037836
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
A 0.700 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 Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 15586325 2005
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 JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 15586325 2005
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 JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 15586325 2005
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 JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 15586325 2005
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 JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 15586325 2005
dbSNP: rs199422235
rs199422235
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0432072
Disease:
Dysmorphic features
G 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
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 The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. 17320160 2007