Annotation Detail
Information
- Associated Genes
- TRMU
- Associated Variants
-
TRMU MUTATION
TRMU MUTATION - Associated Disease
- Developmental delay (disorder)
- Source Database
- DisGeNET
- Description
- Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
- Pubmed
- 25193871
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs