KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
Disease: Dysmorphic features ×
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 Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
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 JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD). 18203167 2008
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD). 18203167 2008
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 JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
dbSNP: rs199422235
rs199422235
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
dbSNP: rs199422235
rs199422235
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD). 18203167 2008
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: 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: 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: 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: 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 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: 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
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: 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: 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