Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.570 GermlineCausalMutation ORPHANET Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene. 24150202

2014
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.570 GermlineCausalMutation ORPHANET Neonatal diabetes with intractable epilepsy: DEND syndrome. 24912436

2014
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.570 GermlineCausalMutation ORPHANET DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas. 23382304

2013
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.570 GermlineCausalMutation ORPHANET The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. 22498247

2012
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.570 GermlineCausalMutation ORPHANET This is the first patient who is reported to have iDEND syndrome due to KCNJ11 V59M mutation in China. 22145471

2011
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.570 GermlineCausalMutation ORPHANET In a few patients, KCNJ11 mutations cause a triad of developmental delay, epilepsy, and neonatal diabetes (DEND syndrome). 17652641

2007