Annotation Detail
Information
- Associated Genes
- POLD1
- Associated Variants
-
POLD1 MUTATION
POLD1 MUTATION - Associated Disease
- lipodystrophy
- Source Database
- DisGeNET
- Description
- This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome) patient with the same de novo p.S605del mutation in POLD1.
- Pubmed
- 26350127
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree,CTD_human
- DisGENET score for the Gene Disease association
- 0.120542883744161
Drugs