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:

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:

rs11651052

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0476089
Disease:

Endometrial Carcinoma

0.800

GeneticVariation

GWASCAT

GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer.

27008869

2016

dbSNP:

rs121918674

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.800

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:

rs121918674

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.800

CausalMutation

CLINVAR

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

25536396

2015

dbSNP:

rs121918675

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.800

GeneticVariation

CLINVAR

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

25536396

2015

dbSNP:

rs121918675

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.800

GeneticVariation

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:

rs121918675

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.800

GeneticVariation

CLINVAR

Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities.

25441779

2015

dbSNP:

rs4430796

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0600139
Disease:

Prostate carcinoma

0.800

GeneticVariation

BEFREE

Our results suggested that the HNF1B rs4430796 (A>G) polymorphism decreased the risk of prostate cancer.

26214421

2015

dbSNP:

rs4430796

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0600139
Disease:

Prostate carcinoma

0.800

GeneticVariation

GWASCAT

Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.

26443449

2015

dbSNP:

rs4430796

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0376358
Disease:

Malignant neoplasm of prostate

0.800

GeneticVariation

BEFREE

Our results suggested that the HNF1B rs4430796 (A>G) polymorphism decreased the risk of prostate cancer.

26214421

2015

dbSNP:

rs886043813

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.800

CausalMutation

CLINVAR

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

25536396

2015

dbSNP:

rs886043813

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.800

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:

rs121918674

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.800

CausalMutation

CLINVAR

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

24897035

2014

dbSNP:

rs121918675

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0431693
Disease:

Renal cysts and diabetes syndrome

0.800

GeneticVariation

CLINVAR

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

24897035

2014

dbSNP:

rs4430796

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0376358
Disease:

Malignant neoplasm of prostate

0.800

GeneticVariation

BEFREE

After subgroup analyses stratified by ethnicity, however, the rs4430796 polymorphism was significantly associated with prostate cancer in both Caucasians and Asians but not in African-Americans.

25177939

2014

dbSNP:

rs4430796

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0376358
Disease:

Malignant neoplasm of prostate

0.800

GeneticVariation

BEFREE

The polymorphism rs4430796 of the chromosome 17q12 appears to be a biomarker for cancer aggressiveness, increased PSA and tumor volume of PCa.

24627192

2014

dbSNP:

rs4430796

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0600139
Disease:

Prostate carcinoma

0.800

GeneticVariation

BEFREE

The polymorphism rs4430796 of the chromosome 17q12 appears to be a biomarker for cancer aggressiveness, increased PSA and tumor volume of PCa.

24627192

2014

dbSNP:

rs4430796

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0600139
Disease:

Prostate carcinoma

0.800

GeneticVariation

BEFREE

After subgroup analyses stratified by ethnicity, however, the rs4430796 polymorphism was significantly associated with prostate cancer in both Caucasians and Asians but not in African-Americans.

25177939

2014

dbSNP:

rs4430796

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0376358
Disease:

Malignant neoplasm of prostate

0.800

GeneticVariation

BEFREE

Individuals with the rs4430796 TT genotype were at increased CaP risk in the Chinese via a recessive model (odds ratios (OR) = 1.56, 95% CI = 1.04-2.33).

22561070

2013

dbSNP:

rs4430796

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0600139
Disease:

Prostate carcinoma

0.800

GeneticVariation

BEFREE

Individuals with the rs4430796 TT genotype were at increased CaP risk in the Chinese via a recessive model (odds ratios (OR) = 1.56, 95% CI = 1.04-2.33).

22561070

2013

dbSNP:

rs11651052

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.800

GeneticVariation

GWASDB

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

22885922

2012

dbSNP:

rs11651052

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.800

GeneticVariation

GWASCAT

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

22885922

2012

dbSNP:

rs11651755

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.800

GeneticVariation

GWASDB

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

22885922

2012

dbSNP:

rs4430796

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0376358
Disease:

Malignant neoplasm of prostate

0.800

GeneticVariation

BEFREE

Six markers associated with early-onset prostate cancer [rs2171492 (7q32), rs6983561 (8q24), rs10993994 (10q11), rs4430796 (17q12), rs1799950 (17q21), and rs266849 (19q13)] were genotyped.

22144497

2012

dbSNP:

rs4430796

Entrez Id:	6928
Gene Symbol:	HNF1B

HNF1B

CUI:	C0600139
Disease:

Prostate carcinoma

0.800

GeneticVariation

BEFREE

Six markers associated with early-onset prostate cancer [rs2171492 (7q32), rs6983561 (8q24), rs10993994 (10q11), rs4430796 (17q12), rs1799950 (17q21), and rs266849 (19q13)] were genotyped.

22144497

2012