|| common in clinvar
|?|| (C;C) (C;G) (G;G) ||28|
| Disease Association
|| Defects in EIF2AK3 are the cause of Wolcott-Rallison syndrome (WRS) (MIM:226980); also known as multiple epiphyseal dysplasia with early-onset diabetes mellitus. WRS is a rare autosomal recessive disorder, characterized by permanent neonatal or early infancy insulin-dependent diabetes and, at a later age, epiphyseal dysplasia, osteoporosis, growth retardation and other multisystem manifestations, such as hepatic and renal dysfunctions, mental retardation and cardiovascular abnormalities.
[PMID 22028037] A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density
[PMID 17708757] Genome bioinformatic analysis of nonsynonymous SNPs.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 24985580] Common variants in PERK, JNK, BIP and XBP1 genes are associated with the risk of prediabetes or diabetes-related phenotypes in a Chinese population