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: rs1371185696
rs1371185696
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		A 0.700 GeneticVariation CLINVAR Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Geneva, Switzerland. August 30-September 2, 2011. 21812132 2011
dbSNP: rs1371185696
rs1371185696
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		A 0.700 GeneticVariation CLINVAR Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. 21422196 2011
dbSNP: rs1371185696
rs1371185696
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		A 0.700 GeneticVariation CLINVAR Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. 11395395 2001