DisGeNET - a database of gene-disease associations

Source: CLINGEN

Gene: NEB ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	4703
Gene Symbol:	NEB

NEB

nebulin

0.608

0.692

4.6E-41

CUI:	C1850569
Disease:	Nemaline Myopathy 2

Nemaline Myopathy 2

disease

0.920

definitive

1.000

0

1998

2018