DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Delayed speech and language development ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	26960
Gene Symbol:	NBEA

NBEA

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

0.100

GeneticVariation

CLINVAR

NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

2018