PCNA, proliferating cell nuclear antigen, 5111

N. diseases: 581; N. variants: 6
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369958038
rs369958038
Entrez Id: 5111
Gene Symbol: PCNA
PCNA
CUI: C4014676
Disease:
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 		0.800 GeneticVariation UNIPROT Hypomorphic PCNA mutation underlies a human DNA repair disorder. 24911150 2014
dbSNP: rs369958038
rs369958038
Entrez Id: 5111
Gene Symbol: PCNA
PCNA
CUI: C4014676
Disease:
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 		A 0.800 CausalMutation CLINVAR