Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.900 GeneticVariation CLINVAR

Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation CLINVAR Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. 27186691

2017
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399

2016
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation CLINVAR The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. 26620705

2016
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation CLINVAR CSB-PGBD3 Mutations Cause Premature Ovarian Failure. 26218421

2015
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation CLINVAR A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome. 25356239

2014
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 CausalMutation CLINVAR Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. 21143350

2011
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 CausalMutation CLINVAR CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response. 18784753

2008
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation CLINVAR Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells. 11809892

2002
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 GeneticVariation CLINVAR Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879

1998
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 CausalMutation CLINVAR Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879

1998
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 GeneticVariation CLINVAR Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. 27186691

2017
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 GeneticVariation CLINVAR The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. 26620705

2016
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399

2016
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 GeneticVariation CLINVAR CSB-PGBD3 Mutations Cause Premature Ovarian Failure. 26218421

2015
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 GeneticVariation CLINVAR A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome. 25356239

2014
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 CausalMutation CLINVAR Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. 21143350

2011
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 GeneticVariation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 CausalMutation CLINVAR CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response. 18784753

2008
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 GeneticVariation CLINVAR Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells. 11809892

2002
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.740 GeneticVariation CLINVAR Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 9443879

1998
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.600 GeneticVariation CLINVAR Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 29572252

2018