Disease: Hyperinsulinemic hypoglycemia, familial, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 CausalMutation disease CLINVAR Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia. 30352420 2018
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets. 28442472 2017
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Neonatal Diabetes: A Case Series. 27889714 2017
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success. 27691052 2016
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. 27682711 2016
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Clinical whole exome sequencing in early onset diabetes patients. 27810688 2016
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 27908292 2016
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases. 25639667 2016
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. 26545876 2016
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations. 27573238 2016
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. 26268944 2015
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 CausalMutation disease 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
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds. 25781672 2015
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052 2015
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients. 26740944 2015
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease UNIPROT Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052 2015
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. 26180531 2015
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease UNIPROT Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. 24814349 2015
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation. 25518065 2015
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease 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
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease 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
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 CausalMutation disease CLINVAR Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. 24401662 2014
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia. 25117148 2014
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease CLINVAR Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism. 25008049 2014