Advanced search

Combine gene, variant, phenotype, region and year filters

Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.

Transparent by designEvery result links extracted entities to its source sentence and publication identifier.

Knowledge-base search

About your search

EIF2AK3 and developmental delay are reported together in 1 article.

Gene

EIF2AK3

12articles

12mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

480articles

480mentions

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.

1 records shown · first 60

PMID 22060631 | DOI 10.1111/j.1399-5448.2011.00828.x · Pediatric diabetes · 2012 · 13 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	EIF2AK3	“Sequencing of KCNJ11, ABCC8, and INS were performed initially on all subjects, and EIF2AK3, GLIS3, SLC2A2, SLC19A2, GCK, IPF1, and NEUROD1 genes were sequenced according to the clinical phenotype.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“Two patients with isolated PNDM and one with intermediate developmental delay, epilepsy and neonatal diabetes had no identifiable cause.”	0.98	phenotype_alias_lexicon_v2
gene	KCNJ11	“BACKGROUND: Permanent neonatal diabetes mellitus (PNDM) in European population has an incidence of at least 1 in 260 000 live births and is most commonly due to mutations in KCNJ11 and ABCC8.”	0.98	hgnc_dict_v1
gene	ABCC8	“BACKGROUND: Permanent neonatal diabetes mellitus (PNDM) in European population has an incidence of at least 1 in 260 000 live births and is most commonly due to mutations in KCNJ11 and ABCC8.”	0.98	hgnc_dict_v1