ADAT2
HGNC:21172 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
0Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in ADAT2 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
Linked variants
Variants normalized to ADAT2| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 21 | 1 |
Supporting publications
2 records- 2025ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.Brain : a journal of neurologyPubMed ↗
- 2019Formation of tRNA Wobble Inosine in Humans Is Disrupted by a Millennia-Old Mutation Causing Intellectual Disability.Molecular and cellular biologyPubMed ↗