Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG MUTATION
POLG MUTATION - Associated Disease
- Mitochondrial Diseases
- Source Database
- DisGeNET
- Description
- Diseases due to mutations of POLG gene, encoding the mitochondrial DNA polymerase, are reputed to have very diverse clinical presentations and have been proposed to cause up to 25% adult mitochondrial diseases.
- Pubmed
- 25118206
- Section of the abstract supporting the evidence
- OBJECTIVE
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,LHGDN
- DisGENET score for the Gene Disease association
- 0.255763491623986
Drugs