DisGeNET - a database of gene-disease associations

HECW1, HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1, 23072

N. diseases: 13; N. variants: 12

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:

rs17172199

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C0002395
Disease:

Alzheimer's Disease

0.800

GeneticVariation

GWASCAT

Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.

23535033

2014

dbSNP:

rs17172199

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C0002395
Disease:

Alzheimer's Disease

0.800

GeneticVariation

GWASDB

Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.

23535033

2014

dbSNP:

rs7810100

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C0029408
Disease:

Degenerative polyarthritis

0.700

GeneticVariation

GWASCAT

Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.

29559693

2018

dbSNP:

rs11979957

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs12702043

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs12702043

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs17207421

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs17801421

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs1860755

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2024269

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2240983

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs61756577

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C4317009
Disease:

Diverticular Diseases

0.700

GeneticVariation

GWASCAT

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.

28585551

2017

dbSNP:

rs73099645

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C0037369
Disease:

Smoking

0.700

GeneticVariation

GWASCAT

Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

26053186

2015

dbSNP:

rs73099645

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C1519383
Disease:

Smoking Behaviors

0.700

GeneticVariation

GWASCAT

Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

26053186

2015

dbSNP:

rs978056

Entrez Id:	23072
Gene Symbol:	HECW1

HECW1

CUI:	C0017661
Disease:

IGA Glomerulonephritis

0.010

GeneticVariation

BEFREE

Recent genomewide association study suggested that the top single-nucleotide polymorphism, rs978056, in HECW1 gene (which encodes HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1) associated with the levels of galactose-deficient IgA1 (Gd-IgA1) in IgA nephropathy (IgAN).

31057023

2019