Disease: Cerebrooculofacioskeletal Syndrome 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913026
rs121913026
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1853102
Disease:
Cerebrooculofacioskeletal Syndrome 2 		A 0.700 CausalMutation CLINVAR