Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.570 GeneticVariation disease BEFREE Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the pancreas-specific transcription factor 1A (PTF1A) enhancer and one with developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, due to a KCNJ11 mutation. 28943513 2018
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.570 GermlineCausalMutation disease ORPHANET Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene. 24150202 2014
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.570 GermlineCausalMutation disease ORPHANET Neonatal diabetes with intractable epilepsy: DEND syndrome. 24912436 2014
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.570 GermlineCausalMutation disease ORPHANET DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas. 23382304 2013
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.570 GeneticVariation disease BEFREE Gain of channel function (GOF) mutations in the genes encoding Kir6.2 (KCNJ11) or the associated regulatory ssulfonylurea receptor 1 subunit (ABCC8), cause developmental delay, epilepsy and neonatal diabetes (DEND) due to suppressed cell excitability in pancreatic β-cells and neurons. 23667671 2013
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.570 GermlineCausalMutation disease ORPHANET The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. 22498247 2012
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.570 GeneticVariation disease BEFREE This is the first patient who is reported to have iDEND syndrome due to KCNJ11 V59M mutation in China. 22145471 2011
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.570 GermlineCausalMutation disease ORPHANET This is the first patient who is reported to have iDEND syndrome due to KCNJ11 V59M mutation in China. 22145471 2011
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.570 GeneticVariation disease BEFREE The objective of the study was to determine the molecular basis of intermediate DEND in a 27-yr-old patient with a KCNJ11 mutation (G53D) and the patient's response to SU therapy. 18073297 2008
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.570 GeneticVariation disease BEFREE An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes. 17259376 2007
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.570 GeneticVariation disease BEFREE In a few patients, KCNJ11 mutations cause a triad of developmental delay, epilepsy, and neonatal diabetes (DEND syndrome). 17652641 2007
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.570 GermlineCausalMutation disease ORPHANET In a few patients, KCNJ11 mutations cause a triad of developmental delay, epilepsy, and neonatal diabetes (DEND syndrome). 17652641 2007
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.570 GeneticVariation disease BEFREE It is proposed that some patients with KCNJ11 mutations have neurological features that are part of a discrete neurological syndrome termed developmental Delay, Epilepsy and Neonatal Diabetes (DEND), but there are also neurological consequences of chronic or acute diabetes. 16670688 2006
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.570 Biomarker disease MGD