Annotation Detail
Information
- Associated Genes
- SLC22A5
- Associated Variants
-
SLC22A5 MUTATION
SLC22A5 MUTATION - Associated Disease
- Renal carnitine transport defect
- Source Database
- DisGeNET
- Description
- The present study aimed to identify SLC22A5 gene mutations and analyze the potential relationship between genotype and clinical symptoms in 20 Chinese patients with CDSP.
- Pubmed
- 25132046
- 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
- 3
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.564343069953285
Drugs