Disease: Diabetes Mellitus, Transient Neonatal, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.550 GeneticVariation disease BEFREE In transient neonatal diabetes (TNDM) patients, the genetic cause included chromosome 6q24 abnormalities (n=3), ABCC8 (n=1) and homozygous INS (n=1). 25755231 2015
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.550 GermlineCausalMutation disease ORPHANET The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. 22498247 2012
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.550 GermlineCausalMutation disease ORPHANET Review on monogenic diabetes. 21844708 2011
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.550 GermlineCausalMutation disease ORPHANET Transient neonatal diabetes mellitus caused by a de novoABCC8 gene mutation. 21738553 2011
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.550 GeneticVariation disease BEFREE We identified a new TNDM mutation (R826W) in the first nucleotide-binding domain (NBD1) of SUR1. 18497752 2008
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.550 GeneticVariation disease BEFREE Mutations in the ABCC8 gene encoding the SUR1 subunit of the pancreatic ATP-sensitive potassium channel cause permanent neonatal diabetes mellitus (PNDM) and transient neonatal diabetes mellitus (TNDM). 17919176 2007
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.550 GeneticVariation disease BEFREE K(ATP) channel mutations were found in 25 of 97 (26%) TNDM probands (12 KCNJ11 and 13 ABCC8), while 69 of 97 (71%) had chromosome 6q24 abnormalities. 17446535 2007
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.550 GeneticVariation disease BEFREE Functional characterization of the TNDM associated mutations was performed by expressing the mutated Kir6.2 with SUR1 in Xenopus laevis oocytes. 15718250 2005
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.550 Biomarker disease MGD Sur1 knockout mice. A model for K(ATP) channel-independent regulation of insulin secretion. 10734066 2000