rs1569285361
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs199422236
|
KDM5C;MIR6894
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs199422238
|
KDM5C;MIR6894
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs199422239
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs281860639
|
KDM5C;MIR6894
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs387906729
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587780372
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs782205045
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs782246658
|
KDM5C;MIR6895
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs878853141
|
KDM5C;MIR6894
|
Mental Retardation
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs878853151
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
Mental Retardation
|
CA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs886037836
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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 |
rs1556836399
|
KDM5C;MIR6895
|
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 |
rs1556836399
|
KDM5C;MIR6895
|
Overgrowth
|
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 |
rs1556837420
|
KDM5C;MIR6895
|
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 |
rs1556837420
|
KDM5C;MIR6895
|
Movement Disorders
|
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 |
rs199422235
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
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 |
rs1057517955
|
KDM5C;MIR6894
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
|
16541399 |
2006 |
rs1556836399
|
KDM5C;MIR6895
|
Overgrowth
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
|
16541399 |
2006 |
rs1556836399
|
KDM5C;MIR6895
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
|
16541399 |
2006 |
rs1556837420
|
KDM5C;MIR6895
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
|
16541399 |
2006 |
rs1556837420
|
KDM5C;MIR6895
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
|
16541399 |
2006 |
rs199422235
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
Dysmorphic features
|
G |
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 |
The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.
|
17320160 |
2007 |