DisGeNET - a database of gene-disease associations

Maturity-Onset Diabetes of the Young, Type 1, C1852093

Source: CURATED ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137853336

HNF4A

0.800

GeneticVariation

UNIPROT

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

17407387

2007

dbSNP:

rs137853338

HNF4A

0.800

GeneticVariation

UNIPROT

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

17407387

2007

dbSNP:

rs137853336

HNF4A

0.800

GeneticVariation

UNIPROT

Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q).

10389854

1999

dbSNP:

rs137853338

HNF4A

0.800

GeneticVariation

UNIPROT

Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q).

10389854

1999

dbSNP:

rs137853336

HNF4A

0.800

GeneticVariation

UNIPROT

Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY.

9313765

1997

dbSNP:

rs137853336

HNF4A

0.800

GeneticVariation

UNIPROT

A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young.

9243109

1997

dbSNP:

rs137853338

HNF4A

0.800

GeneticVariation

UNIPROT

A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young.

9243109

1997

dbSNP:

rs137853338

HNF4A

0.800

GeneticVariation

UNIPROT

Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY.

9313765

1997

dbSNP:

rs137853336

HNF4A

0.800

CausalMutation

CLINVAR

dbSNP:

rs137853338

HNF4A

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777732

HNF4A ; MIR3646

0.700

CausalMutation

CLINVAR

Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene.

28458902

2017

dbSNP:

rs587777732

HNF4A ; MIR3646

0.700

CausalMutation

CLINVAR

Fainting Fanconi syndrome clarified by proxy: a case report.

28693455

2017

dbSNP:

rs1375557127

HNF4A

0.700

CausalMutation

CLINVAR

Characteristics of maturity onset diabetes of the young in a large diabetes center.

26059258

2016

dbSNP:

rs587777732

HNF4A ; MIR3646

0.700

CausalMutation

CLINVAR

Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype.

27245055

2016

dbSNP:

rs587777732

HNF4A ; MIR3646

0.700

CausalMutation

CLINVAR

Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction.

25819479

2015

dbSNP:

rs1375557127

HNF4A

0.700

CausalMutation

CLINVAR

Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation.

24947580

2014

dbSNP:

rs587777732

HNF4A ; MIR3646

0.700

CausalMutation

CLINVAR

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.

24285859

2014

dbSNP:

rs1375557127

HNF4A

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:

rs1375557127

HNF4A

0.700

CausalMutation

CLINVAR

Multidomain integration in the structure of the HNF-4α nuclear receptor complex.

23485969

2013

dbSNP:

rs1385251852

HNF4A ; MIR3646

0.700

GeneticVariation

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:

rs1392795567

HNF4A

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:

rs1568724014

HNF4A ; MIR3646

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:

rs1568724014

HNF4A ; MIR3646

0.700

CausalMutation

CLINVAR

Multidomain integration in the structure of the HNF-4α nuclear receptor complex.

23485969

2013

dbSNP:

rs587777732

HNF4A ; MIR3646

0.700

CausalMutation

CLINVAR

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

20164212

2010

dbSNP:

rs1392795567

HNF4A

0.700

CausalMutation

CLINVAR

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

17407387

2007