Annotation Detail
Information
- Associated Genes
- ATIC
- Associated Variants
-
ATIC MUTATION
ATIC MUTATION - Associated Disease
- Lesch-Nyhan syndrome
- Source Database
- DisGeNET
- Description
- Analysis of metabolites extracted from red blood cells from 56 LN patients revealed strong variations specific to HGprt deficiency for six metabolites (AICAR mono- and tri-phosphate, nicotinamide, nicotinic acid, ATP and Succinyl-AMP) as compared to controls including hyperuricemic patients without HGprt deficiency.
- Pubmed
- 25612837
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 11
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs