Cockayne syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Cockayne Syndrome C0009207 ERCC1 Causal Pathogenic evidence from ClinVar 23623389 ClinVar
ERCC6 Causal Pathogenic evidence from ClinVar 7063265, 9443879, 10739753, 10767341, 22466610, 22466612, 25440059, 25655951, 26972010 ClinVar
ERCC8 Causal Pathogenic evidence from ClinVar 22466610, 22466612, 25655951 ClinVar
ERCC4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20221251, 21612988, 23623389, 26074087, 26453996, 26884178 -
SPRTN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Cockayne syndrome type 2 90322 ERCC1 Causal Pathogenic evidence from ClinVar - ClinVar
ERCC6 Causal Pathogenic evidence from ClinVar - ClinVar
ERCC8 Causal Pathogenic evidence from ClinVar - ClinVar
Cockayne Syndrome, Type II C0751038 ERCC1 Causal Pathogenic evidence from ClinVar 23623389 ClinVar
ERCC6 Causal Pathogenic evidence from ClinVar 7063265, 7264357, 9443879, 10447254, 10739753, 10767341, 11809892, 18784753, 19894250, 21143350, 22466610, 22466612, 25356239, 25440059, 25820262, 26218421, 26620705, 26749132, 26972010, 27004399, 27186691, 29203878 ClinVar
ERCC8 Causal Pathogenic evidence from ClinVar 22466610, 22466612 ClinVar
Cockayne syndrome type 1 90321 ERCC6 Causal Pathogenic evidence from ClinVar - ClinVar
ERCC8 Causal Pathogenic evidence from ClinVar - ClinVar
ERCC4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Cockayne syndrome type 3 90324 ERCC6 Causal Pathogenic evidence from ClinVar - ClinVar
ERCC8 Causal Pathogenic evidence from ClinVar - ClinVar
Cockayne Syndrome, Type I C0751039 ERCC6 Causal Pathogenic evidence from ClinVar 9443879, 10739753, 10767341, 22466610, 22466612, 25440059, 26972010 ClinVar
ERCC8 Causal Pathogenic evidence from ClinVar 7664335, 14661080, 15744458, 16865293, 19894250, 22466610, 22466612, 22829088, 25525159, 25655951, 26204423, 26846091, 27004399, 29057985 ClinVar
ERCC4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23623389 -
ERCC8-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16865293, 19894250, 25525159, 26846091, 29057985 -
Cockayne Syndrome, Type III C0751037 ERCC6 Causal Pathogenic evidence from ClinVar 9443879, 10739753, 10767341, 22466610, 22466612, 25440059, 26972010 ClinVar
ERCC8 Causal Pathogenic evidence from ClinVar 22466610, 22466612 ClinVar
Cockayne-Pelizaeus-Merzbacher Disease C0751918 LMNB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PLP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18571143 -