Disease: Hyperinsulinemic hypoglycemia, familial, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783169
rs587783169
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1 		C 0.700 CausalMutation CLINVAR Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations. 24686051 2014
dbSNP: rs587783169
rs587783169
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1 		C 0.700 CausalMutation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197 2013
dbSNP: rs587783169
rs587783169
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1 		C 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527 2013