Disease: Xeroderma Pigmentosum, Complementation Group D ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758439420
rs758439420
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D 		T 0.700 CausalMutation CLINVAR A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity. 22826098 2012