Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193929358
rs193929358
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1853564
Disease:
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.010 GeneticVariation BEFREE Here we describe a patient with severe PNDM, which includes developmental delay and epilepsy, in addition to neonatal diabetes (developmental delay, epilepsy, and neonatal diabetes [DEND]), due to a G334D mutation in the Kir6.2 subunit of K(ATP) channel. 17259376 2007
dbSNP: rs80356611
rs80356611
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1853564
Disease:
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.010 GeneticVariation BEFREE Neurological improvement was observed in two patients, one with DEND (T293N) and one with iDEND (R50P) syndrome. 27681997 2017
dbSNP: rs80356615
rs80356615
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1853564
Disease:
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.010 GeneticVariation 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
dbSNP: rs80356616
rs80356616
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1853564
Disease:
Developmental Delay, Epilepsy, and Neonatal Diabetes 		0.010 GeneticVariation BEFREE This is the first patient who is reported to have iDEND syndrome due to KCNJ11 V59M mutation in China. 22145471 2011