Annotation Detail
Information
- Associated Genes
- IDH1
- Associated Variants
-
IDH1 MUTATION
IDH1 MUTATION - Associated Disease
- METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- ORPHANET
- DisGENET score for the Gene Disease association
- 0.12
Drugs