Annotation Detail
Information
- Associated Genes
- AGXT
- Associated Variants
-
AGXT MUTATION
AGXT MUTATION - Associated Disease
- NEPHROLITHIASIS, CALCIUM OXALATE
- Source Database
- DisGeNET
- Description
- Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal recessive kidney stone disease caused by deficiency of the peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT), which is involved in glyoxylate detoxification.
- Pubmed
- 24718375
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs