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

Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ×

Variant: rs878854416 ×

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:

rs878854416

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C4310643
Disease:

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE

0.800

CausalMutation

CLINVAR