Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 445
Gene Symbol: ASS1
ASS1
CUI: C0751751
Disease: Argininosuccinic Acid Synthetase Deficiency, Complete
Argininosuccinic Acid Synthetase Deficiency, Complete 		0.550 Biomarker CLINGEN Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations. 28111830

2017
Entrez Id: 445
Gene Symbol: ASS1
ASS1
CUI: C0751751
Disease: Argininosuccinic Acid Synthetase Deficiency, Complete
Argininosuccinic Acid Synthetase Deficiency, Complete 		0.550 Biomarker CLINGEN High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations. 23246278

2013
Entrez Id: 445
Gene Symbol: ASS1
ASS1
CUI: C0751751
Disease: Argininosuccinic Acid Synthetase Deficiency, Complete
Argininosuccinic Acid Synthetase Deficiency, Complete 		0.550 Biomarker CLINGEN Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. 19006241

2009
Entrez Id: 445
Gene Symbol: ASS1
ASS1
CUI: C0751751
Disease: Argininosuccinic Acid Synthetase Deficiency, Complete
Argininosuccinic Acid Synthetase Deficiency, Complete 		0.550 Biomarker CLINGEN Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. 16475226

2006
Entrez Id: 445
Gene Symbol: ASS1
ASS1
CUI: C0751751
Disease: Argininosuccinic Acid Synthetase Deficiency, Complete
Argininosuccinic Acid Synthetase Deficiency, Complete 		0.550 Biomarker CLINGEN Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA. 11083500

2000
Entrez Id: 445
Gene Symbol: ASS1
ASS1
CUI: C0751751
Disease: Argininosuccinic Acid Synthetase Deficiency, Complete
Argininosuccinic Acid Synthetase Deficiency, Complete 		0.550 Biomarker CLINGEN Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia. 10097149

1999
Entrez Id: 445
Gene Symbol: ASS1
ASS1
CUI: C0751751
Disease: Argininosuccinic Acid Synthetase Deficiency, Complete
Argininosuccinic Acid Synthetase Deficiency, Complete 		0.550 Biomarker CLINGEN Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene. 8197477

1994
Entrez Id: 445
Gene Symbol: ASS1
ASS1
CUI: C0751751
Disease: Argininosuccinic Acid Synthetase Deficiency, Complete
Argininosuccinic Acid Synthetase Deficiency, Complete 		0.550 Biomarker CLINGEN Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus. 2246255

1990
Entrez Id: 445
Gene Symbol: ASS1
ASS1
CUI: C0751751
Disease: Argininosuccinic Acid Synthetase Deficiency, Complete
Argininosuccinic Acid Synthetase Deficiency, Complete 		0.550 Biomarker CLINGEN Urea cycle enzymopathies. 6763345

1982