EIF2AK3
HGNC:3255 · SaudiVarKB evidence summary derived from retained literature mentions.
12Gene mentions
12Publications
1Linked variants
6Associated phenotypes
Associated phenotypes
Co-mentioned in EIF2AK3 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| diabetes mellitus | — | 9 | 9 |
| skeletal dysplasia | — | 2 | 2 |
| epilepsy | HP:0001250 | 1 | 1 |
| hearing loss | HP:0000365 | 1 | 1 |
| developmental delay | HP:0001263 | 1 | 1 |
| polycystic kidney disease | — | 1 | 1 |
Linked variants
Variants normalized to EIF2AK3| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| rs1411478 | rs1411478 | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
| Not specified | — | — | 1 |
| Saudi Arabia | — | 23 | 1 |
| Not specified | — | 87 | 1 |
| Not specified | — | 48 | 1 |
| Saudi Arabia · Madinah | — | 17 | 1 |
| Not specified | — | 77 | 1 |
Supporting publications
12 records- 2026Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity.Journal of pediatric endocrinology & metabolism : JPEM1 mentions
- 2024Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan.Pediatric diabetes1 mentions
- 2021Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.Clinical genetics1 mentions
- 2019EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report.BMC pediatrics1 mentions
- 2018Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia.Congenital anomalies1 mentions
- 2016Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.American journal of medical genetics. Part A1 mentions
- 2015Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.Hormone research in paediatrics1 mentions
- 2014Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.Neurobiology of aging1 mentions
- 2013Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.The Libyan journal of medicine1 mentions
- 2012Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.Pediatric diabetes1 mentions
- 2012Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans.Archives of disease in childhood1 mentions
- 2005Re: EIF2AK3 mutations in patients with Wolcott-Rallison syndrome.Annals of Saudi medicine1 mentions