DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Argininosuccinic Acid Synthetase Deficiency, Complete ×

Gene: ASS1 ×

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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:	445
Gene Symbol:	ASS1

ASS1

argininosuccinate synthase 1

0.523

0.731

1.5E-09

CUI:	C0751751
Disease:	Argininosuccinic Acid Synthetase Deficiency, Complete

Argininosuccinic Acid Synthetase Deficiency, Complete

disease

0.550

definitive

1.000

0

1982

2017