UGGT1
HGNC:15663 · SaudiVarKB evidence summary derived from retained literature mentions.
1Gene mentions
1Publications
0Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in UGGT1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 1 | 1 |
| epilepsy | HP:0001250 | 1 | 1 |
| developmental delay | HP:0001263 | 1 | 1 |
| polycystic kidney disease | — | 1 | 1 |
Linked variants
Variants normalized to UGGT1| 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 | — | 11 | 1 |
Supporting publications
1 records- 2025Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.American journal of human geneticsPubMed ↗