Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN Effect of inbreeding on intellectual disability revisited by trio sequencing. 30315573

2019
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency. 29375865

2018
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN Asparagine Synthetase Deficiency (ASD) is a recently described inborn error of metabolism caused by bi-allelic pathogenic variants in the asparagine synthetase (ASNS) gene. 29279279

2018
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly. 30057589

2018
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature. 29405484

2018
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN Increasing the sensitivity of clinical exome sequencing through improved filtration strategy. 27711071

2017
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN The first report of Japanese patients with asparagine synthetase deficiency. 27743885

2017
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN To date, seven families and seven missense mutations in the ASNSD disease causing gene, ASNS, have been published. 27469131

2017
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN Asparagine synthetase deficiency is a rare inborn error of metabolism caused by a defect in ASNS, a gene encoding asparagine synthetase. 28776279

2017
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report. 27422383

2016
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN Mosaic parental germline mutations causing recurrent forms of malformations of cortical development. 26395554

2016
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. 25227173

2015
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism. 25663424

2015
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine. 26318253

2015
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. 24139043

2013
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker CLINGEN Asparagine biosynthesis by the Novikoff Hepatoma isolation, purification, property, and mechanism studies of the enzyme system. 4295091

1968