DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hyperglycemia ×

Gene: HNF1A ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057524908

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

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

dbSNP:

rs1057524908

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

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

dbSNP:

rs1057524908

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

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

dbSNP:

rs1057524908

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

CausalMutation

CLINVAR

Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.

11058894

2000

dbSNP:

rs137853238

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

CausalMutation

CLINVAR

Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.

19150152

2009

dbSNP:

rs137853238

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

CausalMutation

CLINVAR

Homeodomain revisited: a lesson from disease-causing mutations.

15726414

2005

dbSNP:

rs137853238

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

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

dbSNP:

rs137853238

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

CausalMutation

CLINVAR

Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations.

10585442

1999

dbSNP:

rs137853238

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

CausalMutation

CLINVAR

Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM.

9313763

1997

dbSNP:

rs137853238

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

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

dbSNP:

rs1565886545

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

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

dbSNP:

rs1565886545

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

CausalMutation

CLINVAR

Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.

19150152

2009

dbSNP:

rs1565886545

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

CausalMutation

CLINVAR

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

19339519

2009

dbSNP:

rs776793516

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

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

dbSNP:

rs776793516

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

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

dbSNP:

rs776793516

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

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

dbSNP:

rs776793516

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

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

dbSNP:

rs776793516

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

CausalMutation

CLINVAR

beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.

11272211

2001

dbSNP:

rs776793516

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

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

dbSNP:

rs776793516

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.700

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

dbSNP:

rs137853240

HNF1A

CUI:	C0020456
Disease:	Hyperglycemia

Hyperglycemia

0.010

GeneticVariation

BEFREE

The adjusted odds ratio (OR) and 95% confidence interval for Type 2 diabetes among subjects who carried the HNF1A G319S mutation and had the modified metabolic syndrome (excluding hyperglycaemia) was 20.3 (6.94, 59.6).

16241915

2005