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: 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