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ABCC8 and developmental delay are reported together in 3 articles.

Gene

ABCC8

15articles

15mentions

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.

3 records shown · first 60

PMID 25915078 | DOI 10.1515/jpem-2015-0033 · Journal of pediatric endocrinology & metabolism : JPEM · 2015 · 7 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	ABCC8	“Hyperinsulinaemic hypoglycaemia (HH) is caused by mutations in the key genes involved in regulation of insulin secretion from the pancreatic β-cells and mutations in ABCC8 and KCNJ11 are the most common causes of HH.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“Severe neurological complications such as epilepsy and developmental delay can be associated with HADH mutations.”	0.98	phenotype_alias_lexicon_v2
gene	HADH	“Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family.”	0.98	hgnc_dict_v1
gene	KCNJ11	“Hyperinsulinaemic hypoglycaemia (HH) is caused by mutations in the key genes involved in regulation of insulin secretion from the pancreatic β-cells and mutations in ABCC8 and KCNJ11 are the most common causes of HH.”	0.98	hgnc_dict_v1

PMID 25871929 | PMCID PMC4488661 | DOI 10.3390/genes6020206 · Genes · 2015 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	ABCC8	“Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“Clinically, most patients presented with infantile seizures and/or developmental delay, with a subset of patients who were also found to have abnormal brain imaging and electrophysiological studies.”	0.98	phenotype_alias_lexicon_v2
gene	KCNJ11	“Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients.”	0.98	hgnc_dict_v1
phenotype	epilepsy	“Clinically, most patients presented with infantile seizures and/or developmental delay, with a subset of patients who were also found to have abnormal brain imaging and electrophysiological studies.”	0.93	phenotype_alias_lexicon_v2

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	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
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	INS	“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