×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
1.000
Biomarker
disease
MGD
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
1.000
CausalMutation
disease
CLINVAR
×
Entrez Id:
3630
Gene Symbol:
INS
INS
1.000
GeneticVariation
disease
CLINVAR
×
Entrez Id:
3630
Gene Symbol:
INS
INS
1.000
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
1.000
Biomarker
disease
CTD_human
×
Entrez Id:
3630
Gene Symbol:
INS
INS
1.000
Biomarker
disease
CTD_human
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
1.000
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.800
CausalMutation
disease
CLINVAR
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.800
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
0.800
Biomarker
disease
CTD_human
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.800
GeneticVariation
disease
CLINVAR
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
0.800
GeneticVariation
disease
CLINVAR
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
0.800
CausalMutation
disease
CLINVAR
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
0.800
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.800
Biomarker
disease
CTD_human
×
Entrez Id:
3651
Gene Symbol:
PDX1
PDX1
0.610
Biomarker
disease
CTD_human
INS-IGF2
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
2645
Gene Symbol:
GCK
GCK
0.800
GeneticVariation
disease
BEFREE
Permanent neonatal diabetes mellitus (PNDM ) caused by homozygous mutations in the glucokinase gene (GCK) is rare and only eight homozygous GCK mutations have been reported so far.
21518409
2011
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
1.000
GeneticVariation
disease
BEFREE
Permanent neonatal diabetes mellitus (PNDM ) in European population has an incidence of at least 1 in 260 000 live births and is most commonly due to mutations in KCNJ11 and ABCC8.
22060631
2012
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.800
GeneticVariation
disease
BEFREE
Permanent neonatal diabetes mellitus (PNDM ) in European population has an incidence of at least 1 in 260 000 live births and is most commonly due to mutations in KCNJ11 and ABCC8 .
22060631
2012
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.800
GeneticVariation
disease
BEFREE
ABCC8 mutations cause PNDM , TNDM or permanent diabetes diagnosed outside the neonatal period.
17919176
2007
×
Entrez Id:
3767
Gene Symbol:
KCNJ11
KCNJ11
1.000
GeneticVariation
disease
BEFREE
KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.
21352428
2011
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
0.070
GeneticVariation
disease
BEFREE
EIF2AK3 mutations in South Indian children with permanent neonatal diabetes mellitus associated with Wolcott-Rallison syndrome.
24168455
2014
×
Entrez Id:
3651
Gene Symbol:
PDX1
PDX1
0.610
GeneticVariation
disease
BEFREE
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency.
29317564
2017
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.800
GeneticVariation
disease
UNIPROT
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
16613899
2006