Disease: Xeroderma pigmentosum, group A ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149226993
rs149226993
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 GeneticVariation CLINVAR Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients. 27607234 2017
dbSNP: rs149226993
rs149226993
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 GeneticVariation CLINVAR DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A. 15214909 2004
dbSNP: rs149226993
rs149226993
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 GeneticVariation CLINVAR Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. 9671271 1998
dbSNP: rs149226993
rs149226993
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 GeneticVariation CLINVAR Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum. 1372103 1992