Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma
0.110 GeneticVariation disease BEFREE Six families had mutations in ACD and four families carried TERF2IP variants, which included nonsense mutations in both genes (p.Q320X and p.R364X, respectively) and point mutations that cosegregated with melanoma. 25505254 2015
CUI: C0025202
Disease: melanoma
melanoma
0.110 Biomarker disease HPO