Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG MUTATION
POLG MUTATION - Associated Disease
- Mitochondrial Diseases
- Source Database
- DisGeNET
- Description
- An analysis of the POLG1 gene should be performed for all patients with suspected mitochondrial disease before the introduction of valproate therapy, and treatment with valproic acid should be avoided in these patients.
- Pubmed
- 25065347
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 14
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,LHGDN
- DisGENET score for the Gene Disease association
- 0.255763491623986
Drugs