TOR1A
HGNC:3098 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
0Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in TOR1A publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 1 | 1 |
| developmental delay | HP:0001263 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
| arthrogryposis | — | 1 | 1 |
Linked variants
Variants normalized to TOR1A| 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 | — | 15 | 1 |
Supporting publications
2 records- 2023The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.Brain : a journal of neurologyPubMed ↗
- 2023Decoding the host-pathogen interspecies molecular crosstalk during oral candidiasis in humans: an in silico analysis.Frontiers in geneticsPubMed ↗