Disease: DEND syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C4303593
Disease:
DEND syndrome 		0.020 GeneticVariation BEFREE Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. 19169493 2008
dbSNP: rs80356618
rs80356618
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C4303593
Disease:
DEND syndrome 		0.020 GeneticVariation BEFREE The severe DEND syndrome was seen with the novel C166F mutation and mild developmental delay with the V59M mutation. 16670688 2006