Annotation Detail
Information
- Associated Genes
- AGXT
- Associated Variants
-
AGXT MUTATION
AGXT MUTATION - Associated Disease
- Kidney Diseases
- Source Database
- DisGeNET
- Description
- Primary hyperoxaluria type 1 (PH1) is a rare genetic kidney disease caused by a deficiency of alanine:glyoxylate aminotransferase (AGT).
- Pubmed
- 25854853
- 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
- 0.00108576748832121
Drugs