Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
0.600 CausalMutation disease CLINVAR
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
0.600 GermlineCausalMutation disease ORPHANET Hypomorphic PCNA mutation underlies a human DNA repair disorder. 24911150 2014
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
0.600 GeneticVariation disease UNIPROT Hypomorphic PCNA mutation underlies a human DNA repair disorder. 24911150 2014