DisGeNET - a database of gene-disease associations

HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72

Source: ALL

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:

rs1057517744

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.700

CausalMutation

CLINVAR

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.

16249435

2005

dbSNP:

rs1057517744

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.700

CausalMutation

CLINVAR

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

25536396

2015

dbSNP:

rs1057517744

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.700

CausalMutation

CLINVAR

Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.

15930087

2006

dbSNP:

rs1057517744

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.700

CausalMutation

CLINVAR

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

15068978

2004

dbSNP:

rs1057517744

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.700

CausalMutation

CLINVAR

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

21380624

2011

dbSNP:

rs1057517744

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.700

CausalMutation

CLINVAR

Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.

27234567

2016

dbSNP:

rs1057517744

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.700

CausalMutation

CLINVAR

A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.

25700310

2015

dbSNP:

rs1057517744

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.700

CausalMutation

CLINVAR

The HNF1B score is a simple tool to select patients for HNF1B gene analysis.

24897035

2014

dbSNP:

rs1057519371

Entrez Id:	6928;105371754
Gene Symbol:	HNF1B;LOC105371754

HNF1B;LOC105371754

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.700

CausalMutation

CLINVAR

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

27657687

2017

dbSNP:

rs1057519371

Entrez Id:	6928;105371754
Gene Symbol:	HNF1B;LOC105371754

HNF1B;LOC105371754

CUI:	C1834931
Disease:

Cystic renal dysplasia

0.700

CausalMutation

CLINVAR

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

27657687

2017

dbSNP:

rs1057524479

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs10908278

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.700

GeneticVariation

GWASCAT

Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes.

26818947

2016

dbSNP:

rs10908278

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0476089
Disease:

Endometrial Carcinoma

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies a common variant associated with risk of endometrial cancer.

21499250

2011

dbSNP:

rs11263761

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0476089
Disease:

Endometrial Carcinoma

0.700

GeneticVariation

GWASCAT

Identification of nine new susceptibility loci for endometrial cancer.

30093612

2018

dbSNP:

rs11263761

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0201544
Disease:

Prostate specific antigen measurement

0.700

GeneticVariation

GWASCAT

Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer.

28139693

2017

dbSNP:

rs11263763

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0476089
Disease:

Endometrial Carcinoma

0.800

GeneticVariation

GWASCAT

Five endometrial cancer risk loci identified through genome-wide association analysis.

27135401

2016

dbSNP:

rs11263763

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0476089
Disease:

Endometrial Carcinoma

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies a common variant associated with risk of endometrial cancer.

21499250

2011

dbSNP:

rs11263763

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.700

GeneticVariation

GWASDB

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

22885922

2012

dbSNP:

rs11263763

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0600139
Disease:

Prostate carcinoma

0.700

GeneticVariation

GWASCAT

A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.

26034056

2015

dbSNP:

rs11263763

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0006826
Disease:

Malignant Neoplasms

0.010

GeneticVariation

BEFREE

SNP rs11263763 genotype was associated with HNF1B mRNA expression but not with HNF1B methylation in endometrial tumor samples from The Cancer Genome Atlas.

25378557

2015

dbSNP:

rs11263763

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0014170
Disease:

Endometrial Neoplasms

0.010

GeneticVariation

BEFREE

SNP rs11263763 genotype was associated with HNF1B mRNA expression but not with HNF1B methylation in endometrial tumor samples from The Cancer Genome Atlas.

25378557

2015

dbSNP:

rs11263763

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C1306459
Disease:

Primary malignant neoplasm

0.010

GeneticVariation

BEFREE

SNP rs11263763 genotype was associated with HNF1B mRNA expression but not with HNF1B methylation in endometrial tumor samples from The Cancer Genome Atlas.

25378557

2015

dbSNP:

rs113042313

Entrez Id:	6928;105371754
Gene Symbol:	HNF1B;LOC105371754

HNF1B;LOC105371754

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.700

GeneticVariation

UNIPROT

Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both.

10672455

2000

dbSNP:

rs113042313

Entrez Id:	6928;105371754
Gene Symbol:	HNF1B;LOC105371754

HNF1B;LOC105371754

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.700

GeneticVariation

UNIPROT

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

15068978

2004

dbSNP:

rs113042313

Entrez Id:	6928;105371754
Gene Symbol:	HNF1B;LOC105371754

HNF1B;LOC105371754

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.700

GeneticVariation

UNIPROT

Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.

15181075

2004