DisGeNET - a database of gene-disease associations

NEDD4L, NEDD4 like E3 ubiquitin protein ligase, 23327

N. diseases: 108; N. variants: 29

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:

rs879255596

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

CUI:	C4310669
Disease:

PERIVENTRICULAR NODULAR HETEROTOPIA 7

0.800

GeneticVariation

UNIPROT

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

27694961

2016

dbSNP:

rs879255597

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

CUI:	C4310669
Disease:

PERIVENTRICULAR NODULAR HETEROTOPIA 7

0.800

GeneticVariation

UNIPROT

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

27694961

2016

dbSNP:

rs879255598

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

CUI:	C4310669
Disease:

PERIVENTRICULAR NODULAR HETEROTOPIA 7

0.800

GeneticVariation

UNIPROT

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

27694961

2016

dbSNP:

rs879255599

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

CUI:	C4310669
Disease:

PERIVENTRICULAR NODULAR HETEROTOPIA 7

0.800

GeneticVariation

UNIPROT

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

27694961

2016

dbSNP:

rs879255596

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

CUI:	C4310669
Disease:

PERIVENTRICULAR NODULAR HETEROTOPIA 7

0.800

CausalMutation

CLINVAR

dbSNP:

rs879255597

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

CUI:	C4310669
Disease:

PERIVENTRICULAR NODULAR HETEROTOPIA 7

0.800

CausalMutation

CLINVAR

dbSNP:

rs879255598

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

CUI:	C4310669
Disease:

PERIVENTRICULAR NODULAR HETEROTOPIA 7

0.800

CausalMutation

CLINVAR

dbSNP:

rs879255599

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

CUI:	C4310669
Disease:

PERIVENTRICULAR NODULAR HETEROTOPIA 7

0.800

CausalMutation

CLINVAR

dbSNP:

rs487990

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs17808190

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs17808190

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs4940386

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs7235890

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

30224653

2018

dbSNP:

rs9675944

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs10439056

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

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:

rs12955136

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

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:

rs13380982

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

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:

rs1573390

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

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:

rs1942562

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

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:

rs1942564

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

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:

rs1942565

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

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:

rs4375742

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

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:

rs4461163

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

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:

rs5005280

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

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:

rs6566931

Entrez Id:	23327
Gene Symbol:	NEDD4L

NEDD4L

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