rs202080674
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.
|
29203878 |
2017 |
rs368728467
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.
|
29203878 |
2017 |
rs751292948
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.
|
29203878 |
2017 |
rs202080674
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.
|
25820262 |
2015 |
rs368728467
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.
|
25820262 |
2015 |
rs751292948
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.
|
25820262 |
2015 |
rs121917905
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cerebrooculofacioskeletal Syndrome 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
rs202080674
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
rs368728467
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
rs751292948
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
rs202080674
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
|
10447254 |
1999 |
rs368728467
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
|
10447254 |
1999 |
rs751292948
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
|
10447254 |
1999 |
rs202080674
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
|
9443879 |
1998 |
rs368728467
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
|
9443879 |
1998 |
rs751292948
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
|
9443879 |
1998 |
rs121917905
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cerebrooculofacioskeletal Syndrome 1
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs202080674
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs368728467
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs368728467
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs751292948
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs371739894
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
De Sanctis-Cacchione syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
|
29572252 |
2018 |
rs4253197
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Alcohol consumption
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
|
29912962 |
2018 |
rs1554788393
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
Cockayne Syndrome, Type II
|
|
0.700 |
GeneticVariation |
UNIPROT |
ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.
|
29203878 |
2017 |
rs376526037
|
Entrez Id: |
2074 |
Gene Symbol: |
ERCC6 |
ERCC6
|
De Sanctis-Cacchione syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.
|
28440418 |
2017 |