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 Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. 23999528 2014
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. 23999528 2014
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. 23999528 2014
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. 23999528 2014
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. 23999528 2014
dbSNP: rs199422235
rs199422235
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. 23999528 2014
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: rs1569285562
rs1569285562
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0037772
Disease:
Spastic Paraplegia 		C 0.700 GeneticVariation CLINVAR A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability. 22326837 2012
dbSNP: rs281860639
rs281860639
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE In this study, we describe clinical and genetic findings of a Brazilian family co-segregating a novel nonsense mutation (c.2172C>A) in exon 15 of KDM5C gene with the intellectual disability phenotype. 21575681 2011
dbSNP: rs1057517955
rs1057517955
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. 19826449 2010
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. 19826449 2010
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. 19826449 2010
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. 19826449 2010
dbSNP: rs1556837420
rs1556837420
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. 19826449 2010
dbSNP: rs199422235
rs199422235
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. 19826449 2010
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: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
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 JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 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: rs1057517955
rs1057517955
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD). 18203167 2008
dbSNP: rs1556836399
rs1556836399
Entrez Id: 8242;102465539
Gene Symbol: KDM5C;MIR6895
KDM5C;MIR6895
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD). 18203167 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: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD). 18203167 2008