Annotation Detail
Information
- Associated Genes
- ADA
- Associated Variants
-
ADA MUTATION
ADA MUTATION - Associated Disease
- SCID Due to ADA Deficiency, Early-Onset
- Source Database
- DisGeNET
- Description
- Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.
- Pubmed
- 3839802
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.323800186209124
- Year of publication
- 1985
Drugs