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EIF2AK3 and polycystic kidney disease are reported together in 1 article.
Gene
EIF2AK3
- HGNC
- HGNC:3255
12articles
12mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Polycystic kidney disease
66articles
66mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
PMID 33495992 | DOI 10.1111/cge.13930 · Clinical genetics · 2021 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EIF2AK3 | “PDIA6 regulates the UPR sensing proteins, Inositol requiring enzyme 1, and EIF2AK3.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Phenotypic correlation with the mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PDIA6 | “Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.” | 0.93 | phenotype_alias_lexicon_v2 |