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: 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: 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: 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: 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: 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: 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: 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: rs1057517955
rs1057517955
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature. 24583395 2014
dbSNP: rs1057517955
rs1057517955
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		0.700 GeneticVariation UNIPROT
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: 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: 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: 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: C0037772
Disease:
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519393
rs1057519393
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs1057519393
rs1057519393
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1843367
Disease:
Poor school performance 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs1060499661
rs1060499661
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692227
rs1131692227
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0265529
Disease:
Plagiocephaly 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692227
rs1131692227
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0557874
Disease:
Global developmental delay 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692227
rs1131692227
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0079352
Disease:
Congenital torticollis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692227
rs1131692227
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0454644
Disease:
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692227
rs1131692227
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C4022737
Disease:
Neurodevelopmental abnormality 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692227
rs1131692227
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C1845243
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		T 0.700 CausalMutation CLINVAR