Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1835887
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) 		0.900 GeneticVariation CLINVAR

Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1835887
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) 		0.900 CausalMutation CLINVAR

Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 CausalMutation CLINVAR

Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 GeneticVariation CLINVAR

Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation GWASCAT Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes. 29358691

2018
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 CausalMutation CLINVAR Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia. 30352420

2018
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets. 28442472

2017
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR Neonatal Diabetes: A Case Series. 27889714

2017
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success. 27691052

2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. 27682711

2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR Clinical whole exome sequencing in early onset diabetes patients. 27810688

2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 27908292

2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases. 25639667

2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. 26545876

2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations. 27573238

2016
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. 26268944

2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 CausalMutation CLINVAR Altered Phenotype of β-Cells and Other Pancreatic Cell Lineages in Patients With Diffuse Congenital Hyperinsulinism in Infancy Caused by Mutations in the ATP-Sensitive K-Channel. 25931474

2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds. 25781672

2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052

2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients. 26740944

2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. 26180531

2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation. 25518065

2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes. 26246406

2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation CLINVAR Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism. 25765446

2015