Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.440 GeneticVariation disease BEFREE Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene. 29199204 2018
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.440 Biomarker disease BEFREE In conclusion, the MDPL nuclear and cellular findings resemble features observed in other progeroid syndromes and familial lipodystrophies. 30388038 2018
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.440 GeneticVariation 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
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.440 GeneticVariation disease BEFREE An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. 23770608 2013
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.440 Biomarker disease CTD_human An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. 23770608 2013
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.440 Biomarker disease HPO