Disease: Cockayne Syndrome, Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434326
rs121434326
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.710 GeneticVariation UNIPROT Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010
dbSNP: rs121434326
rs121434326
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.710 GeneticVariation UNIPROT Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. 15744458 2005
dbSNP: rs121434326
rs121434326
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.710 GeneticVariation UNIPROT We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 (MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation. 14661080 2004
dbSNP: rs121434326
rs121434326
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease:
Cockayne Syndrome, Type I 		0.710 GeneticVariation BEFREE We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 (MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation. 14661080 2004