Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922401
rs193922401
ABCC8
0.710 GeneticVariation BEFREE Here we investigate the molecular mechanism by which two heterozygous mutations in the second nucleotide-binding domain (NBD2) of SUR1 (R1380L and R1380C) separately cause neonatal diabetes. 18025464

2007
dbSNP: rs80356611
rs80356611
KCNJ11
0.710 GeneticVariation BEFREE We identified a novel KCNJ11 mutation, R50Q, that causes permanent neonatal diabetes (PNDM) without neurological problems. 16731833

2006
dbSNP: rs193922401
rs193922401
ABCC8
A 0.710 GeneticVariation CLINVAR

dbSNP: rs80356611
rs80356611
KCNJ11
T 0.710 GeneticVariation CLINVAR

dbSNP: rs141322087
rs141322087
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs193922396
rs193922396
ABCC8
G 0.700 GeneticVariation CLINVAR

dbSNP: rs193922397
rs193922397
ABCC8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922399
rs193922399
ABCC8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922400
rs193922400
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs193922403
rs193922403
ABCC8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922406
rs193922406
ABCC8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922407
rs193922407
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs193922408
rs193922408
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs193922565
rs193922565
KCNJ11
G 0.700 GeneticVariation CLINVAR

dbSNP: rs80356663
rs80356663
INS ; INS-IGF2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs80356624
rs80356624
KCNJ11
0.030 GeneticVariation BEFREE Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: impact of low compliance to the gluten free diet. 19345438

2009
dbSNP: rs80356624
rs80356624
KCNJ11
0.030 GeneticVariation BEFREE We identified KCNJ11 mutations in four of 10 probands with permanent neonatal diabetes and one affected parent; this included the novel C166F mutation and the previously described V59M and R201H. 16670688

2006
dbSNP: rs80356624
rs80356624
KCNJ11
0.030 GeneticVariation BEFREE This is consistent with the ability of the R201H mutation to cause neonatal diabetes in patients. 17065345

2006
dbSNP: rs587783673
rs587783673
KCNJ11
0.020 GeneticVariation BEFREE Chromosomal microarray at 11 weeks of age showed XXY and a panel-based, molecular test for neonatal diabetes revealed a pathogenic heterozygous variant c.685G>A (p.Glu229Lys) in KCNJ11. 28766502

2018
dbSNP: rs193929337
rs193929337
KCNJ11
0.020 GeneticVariation BEFREE First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment. 28083968

2017
dbSNP: rs587783673
rs587783673
KCNJ11
0.020 GeneticVariation BEFREE Two cases of transient NDM in extremely preterm, 24 weeks' gestational age (GA) triplets, due to a missense mutation c.685G>A in the KCNJ11 gene are presented. 28350539

2017
dbSNP: rs193929337
rs193929337
KCNJ11
0.020 GeneticVariation BEFREE Some mutations in this gene, including p.Q52R, are associated with the developmental delay, epilepsy, neonatal diabetes (DEND) syndrome. 24150202

2014
dbSNP: rs1285524167
rs1285524167
ABCC8
0.020 GeneticVariation BEFREE Expression of the V59M Kir6.2 mutation in pancreatic beta cells alone is thus sufficient to recapitulate the neonatal diabetes observed in humans. beta-V59M islets also displayed a reduced percentage of beta cells, abnormal morphology, lower insulin content, and decreased expression of Kir6.2, SUR1, and insulin mRNA. 19065048

2009
dbSNP: rs1285524167
rs1285524167
ABCC8
0.020 GeneticVariation BEFREE We report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developmental delay resulting from the KCNJ11 mutation V59M. 17047922

2006
dbSNP: rs80356616
rs80356616
KCNJ11
0.020 GeneticVariation BEFREE We identified KCNJ11 mutations in four of 10 probands with permanent neonatal diabetes and one affected parent; this included the novel C166F mutation and the previously described V59M and R201H. 16670688

2006