Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome
0.010 AlteredExpression disease BEFREE In addition, mutations in POLD1 have been identified in the developmental disorders of mandibular hypoplasia, deafness, progeroid features and lipodystrophy and atypical Werner syndrome, while changes in expression or activity of POLD1 have been linked to senescence and aging. 27320729 2016