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: rs752510317
rs752510317
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D 		0.710 GeneticVariation BEFREE Two other cases of severe XP-D/CS (XP group D/CS), XP1JI (p.[G47R];[0]) and XPCS1PV (p.[R666W];[0]), died at ages <2 years. 25716912 2015
dbSNP: rs752510317
rs752510317
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D 		0.710 GeneticVariation UNIPROT