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: 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: 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
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: 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