Source: BEFREE

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 GeneticVariation BEFREE 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 GeneticVariation BEFREE Thus far, 15 unique mutations in the <i>ASNS</i> gene have been clinically associated with asparagine synthetase deficiency (ASD). 29084849

2017
Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 GeneticVariation BEFREE Whole exome sequencing of the siblings and parents revealed compound heterozygous c.1439C > T (p.Ser480Phe) and c.1648C > T (p.Arg550Cys) mutations in the <i>ASNS</i> gene, indicating asparagine synthetase (ASNS) deficiency. 27522229

2016