Disease: DIABETES MELLITUS, PERMANENT NEONATAL ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74339576
rs74339576
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		T 0.700 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527 2013
dbSNP: rs74339576
rs74339576
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		T 0.700 GeneticVariation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197 2013
dbSNP: rs74339576
rs74339576
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		T 0.700 GeneticVariation CLINVAR Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels. 22311976 2012
dbSNP: rs74339576
rs74339576
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		T 0.700 GeneticVariation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672 2010
dbSNP: rs74339576
rs74339576
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		T 0.700 GeneticVariation CLINVAR Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. 18250167 2008
dbSNP: rs74339576
rs74339576
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009 2005