×
Entrez Id: 2645
Gene Symbol: GCK
GCK
Hyperglycemia
0.500
CausalMutation
CLINVAR
Glucokinase mutations in young children with hyperglycemia .16444761 2006
×
Entrez Id: 2645
Gene Symbol: GCK
GCK
Hyperglycemia
0.500
CausalMutation
CLINVAR
Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
19339519 2009
×
Entrez Id: 2645
Gene Symbol: GCK
GCK
Hyperglycemia
0.500
CausalMutation
CLINVAR
Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity.
17389332 2007
×
Entrez Id: 2645
Gene Symbol: GCK
GCK
Hyperglycemia
0.500
CausalMutation
CLINVAR
Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.
22060211 2012
×
Entrez Id: 2645
Gene Symbol: GCK
GCK
Hyperglycemia
0.500
CausalMutation
CLINVAR
Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type.
19187021 2009
×
Entrez Id: 2645
Gene Symbol: GCK
GCK
Hyperglycemia
0.500
CausalMutation
CLINVAR
A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.
10753050 2000
×
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
Hyperglycemia
0.500
CausalMutation
CLINVAR
Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences.
11463573 2001
×
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
Hyperglycemia
0.500
CausalMutation
CLINVAR
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
23348805 2013
×
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
Hyperglycemia
0.500
CausalMutation
CLINVAR
Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations.
10585442 1999
×
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
Hyperglycemia
0.500
CausalMutation
CLINVAR
Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
19339519 2009
×
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
Hyperglycemia
0.500
CausalMutation
CLINVAR
Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.
25414397 2014
×
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
Hyperglycemia
0.500
CausalMutation
CLINVAR
The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.
18003757 2008
×
Entrez Id: 2645
Gene Symbol: GCK
GCK
Hyperglycemia
0.500
CausalMutation
CLINVAR
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
14517946 2003
×
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
Hyperglycemia
0.500
CausalMutation
CLINVAR
A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes.
9439666 1997
×
Entrez Id: 2645
Gene Symbol: GCK
GCK
Hyperglycemia
0.500
CausalMutation
CLINVAR
Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2).
18411240 2008
×
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
Hyperglycemia
0.500
CausalMutation
CLINVAR
Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.
9032114 1997
×
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
Hyperglycemia
0.500
CausalMutation
CLINVAR
Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect.
12453976 2002
×
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
Hyperglycemia
0.500
CausalMutation
CLINVAR
Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.
9075818 1997
×
Entrez Id: 2645
Gene Symbol: GCK
GCK
Hyperglycemia
0.500
CausalMutation
CLINVAR
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.
11508276 2001
×
Entrez Id: 2645
Gene Symbol: GCK
GCK
Hyperglycemia
0.500
CausalMutation
CLINVAR
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.
16731834 2006
×
Entrez Id: 2645
Gene Symbol: GCK
GCK
Hyperglycemia
0.500
CausalMutation
CLINVAR
Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients.
16632067 2006
×
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
Hyperglycemia
0.500
CausalMutation
CLINVAR
Homeodomain revisited: a lesson from disease-causing mutations.
15726414 2005
×
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
Hyperglycemia
0.500
CausalMutation
CLINVAR
Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM.
9313763 1997
×
Entrez Id: 2645
Gene Symbol: GCK
GCK
Hyperglycemia
0.500
CausalMutation
CLINVAR
Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.
15677479 2005
×
Entrez Id: 2645
Gene Symbol: GCK
GCK
Hyperglycemia
0.500
CausalMutation
CLINVAR
Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects.
23295292 2012