Annotation Detail
Information
- Associated Genes
- SLC22A5
- Associated Variants
-
SLC22A5 MUTATION
SLC22A5 MUTATION - Associated Disease
- Metabolic symptoms
- Source Database
- DisGeNET
- Description
- Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder that manifests with cardiac, skeletal, or metabolic symptoms.
- Pubmed
- 23379544
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs