DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Hyperammonemia, type III ×

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:	162417
Gene Symbol:	NAGS

NAGS

N-acetylglutamate synthase

0.716

0.423

4.0E-08

CUI:	C0268543
Disease:	Hyperammonemia, type III

Hyperammonemia, type III

disease

0.760

definitive

1.000

0

1971

2018