Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes. 21617188 2011
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE The objective of the study was to determine the mechanisms by which two SUR1 mutations, E208K and V324M, associated with transient neonatal diabetes affect KATP channel function. 20810569 2010
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE Gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause neonatal diabetes. 20022885 2010
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. 20922570 2010
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE WES identified a novel de novo ABCC8 mutation in a NDM patient. 21049026 2010
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE Activating mutations in genes KCNJ11 and ABCC8, which form the ATP-sensitive K+channel (K(ATP) channel), have been shown to cause transient or permanent neonatal diabetes. 19342262 2009
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE The importance of these interactions is exemplified by the fact that impaired regulation of Kir6.2 by SUR1 results in human disease, with loss-of-function SUR1 mutations causing congenital hyperinsulinism and gain-of-function SUR1 mutations leading to neonatal diabetes. 18990670 2009
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1. 19351728 2009
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE Here we report that two hyperinsulinism-associated SUR1 missense mutations, R74W and E128K, surprisingly reduce channel inhibition by intracellular ATP, a gating defect expected to yield the opposite disease phenotype neonatal diabetes. 19151370 2009
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE Loss- and gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause hyperinsulinism of infancy and neonatal diabetes, respectively. 20049716 2009
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE Mutations in the ABCC8 gene encoding the SUR1 subunits of the beta-cell K-ATP channel cause neonatal diabetes (ND) mellitus. 19021632 2009
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE Expression of the V59M Kir6.2 mutation in pancreatic beta cells alone is thus sufficient to recapitulate the neonatal diabetes observed in humans. beta-V59M islets also displayed a reduced percentage of beta cells, abnormal morphology, lower insulin content, and decreased expression of Kir6.2, SUR1, and insulin mRNA. 19065048 2009
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE A mutation R1183W was found in the ABCC8 gene encoding SUR1, which was the cause of neonatal diabetes in this case. 20092027 2009
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE Activating mutations in SUR1 have been shown to cause neonatal diabetes. 18281290 2008
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE Loss of function mutations in the KCNJ11 and ABCC8 genes that encode for Kir6.2 and SUR1 can cause over-secretion of insulin and result in hyperinsulinism of infancy, while gain of function mutations in KCNJ11 and ABCC8 have recently been described that result in the opposite phenotype of diabetes.Genetic testing is important for patients with hyperinsulinism or neonatal diabetes, as identification of a K(ATP) channel mutation confirms a diagnosis of their disorder. 18998097 2008
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE In contrast to KCNJ11, where only dominant heterozygous mutations have been identified, recessively acting ABCC8 mutations have recently been found in some patients with neonatal diabetes. 17942821 2008
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE Here we investigate the molecular mechanism by which two heterozygous mutations in the second nucleotide-binding domain (NBD2) of SUR1 (R1380L and R1380C) separately cause neonatal diabetes. 18025464 2007
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE Activating mutations in the genes encoding the ATP-sensitive potassium (K(ATP)) channel subunits Kir6.2 and SUR1 are a common cause of neonatal diabetes. 17584766 2007
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE New ABCC8 mutations in relapsing neonatal diabetes and clinical features. 17389331 2007
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE The functional consequence of this ABCC8 mutation mirrors that of KCNJ11 mutations causing neonatal diabetes and provides new insights into the interaction of Kir6.2 and SUR1. 16613899 2006
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE We screened the 39 exons of ABCC8 in 34 patients with permanent or transient neonatal diabetes of unknown origin. 16885549 2006
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease BEFREE Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. 15962003 2005
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 Biomarker disease MGD Sur1 knockout mice. A model for K(ATP) channel-independent regulation of insulin secretion. 10734066 2000
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 GeneticVariation disease CLINVAR
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 Biomarker disease GENOMICS_ENGLAND