AKR1E2
HGNC:23437 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
0Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in AKR1E2 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| congenital cataract | — | 2 | 2 |
Linked variants
Variants normalized to AKR1E2| 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 |
|---|---|---|---|
| Saudi Arabia | — | 26 | 1 |
| Saudi Arabia | — | 38 | 1 |
Supporting publications
2 records- 2015Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis).Transactions of the American Ophthalmological SocietyPubMed ↗
- 2012Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.Genetics in medicine : official journal of the American College of Medical GeneticsPubMed ↗