Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG MUTATION
POLG MUTATION - Associated Disease
- Mitochondrial Diseases
- Source Database
- DisGeNET
- Description
- Mutations in the POLG gene, encoding the catalytic subunit of the human polymerase gamma, have been linked to a wide variety of mitochondrial disorders that show remarkable heterogeneity, with more than 200 sequence variants, often very rare, found in patients.
- Pubmed
- 26077851
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,LHGDN
- DisGENET score for the Gene Disease association
- 0.255763491623986
Drugs