DisGeNET - a database of gene-disease associations

HECW2, HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2, 57520

N. diseases: 42; N. variants: 8

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:

rs878854416

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C4310643
Disease:

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE

0.800

GeneticVariation

UNIPROT

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

27389779

2017

dbSNP:

rs878854417

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C4310643
Disease:

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE

0.800

GeneticVariation

UNIPROT

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

27389779

2017

dbSNP:

rs878854422

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C4310643
Disease:

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE

0.800

GeneticVariation

UNIPROT

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

27389779

2017

dbSNP:

rs878854416

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C4310643
Disease:

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE

0.800

CausalMutation

CLINVAR

dbSNP:

rs878854417

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C4310643
Disease:

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE

0.800

CausalMutation

CLINVAR

dbSNP:

rs878854422

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C4310643
Disease:

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553629086

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

27389779

2017

dbSNP:

rs1553629086

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

27389779

2017

dbSNP:

rs1553633403

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

27389779

2017

dbSNP:

rs878854424

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C4310643
Disease:

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE

0.700

GeneticVariation

UNIPROT

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

27389779

2017

dbSNP:

rs1553629086

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Mutations in HECW2 are associated with intellectual disability and epilepsy.

27334371

2016

dbSNP:

rs1553629086

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Mutations in HECW2 are associated with intellectual disability and epilepsy.

27334371

2016

dbSNP:

rs1553633403

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Mutations in HECW2 are associated with intellectual disability and epilepsy.

27334371

2016

dbSNP:

rs1553629086

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Excess of rare, inherited truncating mutations in autism.

25961944

2015

dbSNP:

rs1553629086

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

NEDL2 is an essential regulator of enteric neural development and GDNF/Ret signaling.

25555806

2015

dbSNP:

rs1553629086

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

NEDL2 is an essential regulator of enteric neural development and GDNF/Ret signaling.

25555806

2015

dbSNP:

rs1553629086

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Excess of rare, inherited truncating mutations in autism.

25961944

2015

dbSNP:

rs1553629086

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs1553629086

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs1553633403

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Excess of rare, inherited truncating mutations in autism.

25961944

2015

dbSNP:

rs1553633403

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs1553633403

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

NEDL2 is an essential regulator of enteric neural development and GDNF/Ret signaling.

25555806

2015

dbSNP:

rs9677260

Entrez Id:	57520;105373821
Gene Symbol:	HECW2;LOC105373821

HECW2;LOC105373821

CUI:	C0036341
Disease:

Schizophrenia

0.700

GeneticVariation

GWASCAT

Genome-wide association study of schizophrenia in Ashkenazi Jews.

26198764

2015

dbSNP:

rs1553629086

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

The contribution of de novo coding mutations to autism spectrum disorder.

25363768

2014

dbSNP:

rs1553629086

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

The contribution of de novo coding mutations to autism spectrum disorder.

25363768

2014