Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Case 2: A 1-month-old boy with diazoxide-unresponsive CHI due to a paternal heterozygous KCNJ11 gene mutation was partially responsive to octreotide. 30114684 2019
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Hotspot mutations such as T1042Qfs*75, I1511K, E501K, G111R in ABCC8 gene, and R34H in KCNJ11 gene are predominantly responsible for Chinese CHI patients. 31218401 2019
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE This report describes six novel missense variants in ABCC8 and KCNJ11 that were identified in 11 probands with congenital HI. 31464105 2019
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation. 29176012 2018
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE More than half of the diazoxide-unresponsive CHI detected mutations are in ABCC8 and KCNJ11 genes. 28270372 2017
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes, whilst loss-of-function mutations in these genes result in congenital hyperinsulinism. 28663158 2017
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Our study is the first report of a novel form of late-onset PHHI that is caused by a dominant mutation in KCNJ11 and exhibits a defect in proper surface expression of Kir6.2. 29087246 2017
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Congenital hyperinsulinism (CHI) is a heterogeneous disease most frequently caused by KATP-channel (ABCC8 and KCNJ11) mutations, with neonatal or later onset, variable severity, and with focal or diffuse pancreatic involvement as the two major histological types. 28740482 2017
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE As a model, we used a patient with transient CHI that paternally inherited novel heterozygous mutations in ABCC8 (p.Tyr1293Asp) and KCNJ11 (p.Arg50Trp) genes. 29127764 2017
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE For 50 years, diazoxide, a KATP channel agonist, has been the primary drug for infants with HI; however, it is ineffective in most cases with mutations of ABCC8 or KCNJ11, which constitute the majority of infants with monogenic HI. 26908106 2016
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. 27173951 2016
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE We present a novel homozygous p.F315I mutation in the KCNJ11 gene leading to diazoxide-unresponsive CHI in a neonate. 27181099 2016
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Recessive ABCC8 and KCNJ11 mutations are responsible for most (82%) of the severe diazoxide-unresponsive CHI. 26316440 2015
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Autosomal recessive and dominant mutations in ABCC8/KCNJ11 are the commonest cause of medically unresponsive CHI. 25733449 2015
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE The ABCC8 and KCNJ11 genes were analyzed in 3 patients with focal CHI and in 1 patient with diffuse CHI. 25765446 2015
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Mutations in ABCC8 and KCNJ11 are the commonest causes of CHI in Turkish patients (48.6%). 24686051 2014
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Congenital hyperinsulinemic hypoglycemia (HI) is a heterogeneous genetic disorder of insulin secretion characterized by persistent hypoglycemia, most commonly associated with inactivating mutations of the β-cell ATP-sensitive K(+) channel (K(ATP) channel) genes ABCC8 (encoding SUR1) and KCNJ11(encoding Kir6.2). 25117148 2014
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Paternally inherited monoallelic mutations of ABCC8 and KCNJ11 are likely the main causes of KATP-CHI in Chinese patients. 25008049 2014
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Paternally inherited heterozygous ABCC8/KCNJ11 mutations can manifest as a wide spectrum of CHI with variable 18F DOPA-PET CT/histological findings and clinical outcomes. 25201519 2014
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 Biomarker disease BEFREE This study expands the phenotype associated with KCNJ11 loss of function in humans and calls for increased awareness of rhabdomyolysis as a potential late-onset life-threatening complication of KCNJ11-related congenital hyperinsulinism. 24421282 2014
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Fetal macrosomia and neonatal hyperinsulinemic hypoglycemia associated with transplacental transfer of sulfonylurea in a mother with KCNJ11-related neonatal diabetes. 25231897 2014
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Mutations in the genes ABCC8/KCNJ11, encoding SUR1/Kir6.2 components of the K(ATP) channels, respectively, are the commonest cause of CHI. 23563683 2013
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE Loss-of-function mutations in the KATP channel genes KCNJ11 and ABCC8 cause neonatal hyperinsulinism in humans. 23903354 2013
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.700 GeneticVariation disease BEFREE An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide. 20686794 2013