rs281860639
KDM5C;MIR6894
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
rs1057518697
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
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
rs199422234
KDM5C;MIR6894
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
A
0.800
CausalMutation
CLINVAR
rs199422235
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
G
0.800
CausalMutation
CLINVAR
rs199422237
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
C
0.800
CausalMutation
CLINVAR
rs1057517955
KDM5C;MIR6894
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
rs1057517955
KDM5C;MIR6894
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
rs1057517955
KDM5C;MIR6894
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
23999528
2014
rs1057517955
KDM5C;MIR6894
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.
17468742
2007
rs1057517955
KDM5C;MIR6894
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
rs1057517955
KDM5C;MIR6894
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
26919706
2016
rs1057517955
KDM5C;MIR6894
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
25666439
2015
rs1057517955
KDM5C;MIR6894
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
16541399
2006
rs1057517955
KDM5C;MIR6894
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
19826449
2010
rs1057517955
KDM5C;MIR6894
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
rs1057517955
KDM5C;MIR6894
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).
18203167
2008
rs1057517955
KDM5C;MIR6894
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
18697827
2008
rs1057518697
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Spastic Paraplegia
A
0.700
CausalMutation
CLINVAR
rs1057519393
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
CA
0.700
CausalMutation
CLINVAR
rs1057519393
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Poor school performance
CA
0.700
CausalMutation
CLINVAR
rs1060499661
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
C
0.700
CausalMutation
CLINVAR
rs1131692227
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Plagiocephaly
T
0.700
CausalMutation
CLINVAR
rs1131692227
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Global developmental delay
T
0.700
CausalMutation
CLINVAR
rs1131692227
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Congenital torticollis
T
0.700
CausalMutation
CLINVAR
rs1131692227
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Delayed speech and language development
T
0.700
CausalMutation
CLINVAR