Disease: Cerebrooculofacioskeletal Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs185142838
rs185142838
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		A 0.700 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
dbSNP: rs185142838
rs185142838
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		A 0.700 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250 2010