Disease: Xeroderma pigmentosum, group A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894132
rs104894132
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 CausalMutation CLINVAR Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients. 20534089 2010
dbSNP: rs104894132
rs104894132
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 CausalMutation CLINVAR Among 7/8 XP-A patients, we found the previously reported nonsense homozygous XPA mutation (p.Arg228X). 20054342 2010
dbSNP: rs104894132
rs104894132
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 CausalMutation CLINVAR Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family. 20199544 2010
dbSNP: rs104894132
rs104894132
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 CausalMutation CLINVAR Three nonsense mutations responsible for group A xeroderma pigmentosum. 1372102 1992