DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Citrullinemia Type 1 ×

Variant: rs1004492719 ×

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:

rs1004492719

ASS1

CUI:	C4721769
Disease:	Citrullinemia Type 1

Citrullinemia Type 1

0.700

GeneticVariation

CLINVAR

Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.

28111830

2017

dbSNP:

rs1004492719

ASS1

CUI:	C4721769
Disease:	Citrullinemia Type 1

Citrullinemia Type 1

0.700

GeneticVariation

CLINVAR

Molecular genetics of citrullinemia types I and II.

24508627

2014

dbSNP:

rs1004492719

ASS1

CUI:	C4721769
Disease:	Citrullinemia Type 1

Citrullinemia Type 1

0.700

GeneticVariation

CLINVAR

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.

19006241

2009