ASL, argininosuccinate lyase, 435

N. diseases: 99; N. variants: 85
Disease: Argininosuccinic Aciduria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373697663
rs373697663
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		A 0.800 GeneticVariation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938 2015
dbSNP: rs373697663
rs373697663
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		A 0.800 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829 2014
dbSNP: rs373697663
rs373697663
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.800 GeneticVariation UNIPROT Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829 2014
dbSNP: rs373697663
rs373697663
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.800 GeneticVariation UNIPROT Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. 19703900 2009
dbSNP: rs373697663
rs373697663
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.800 GeneticVariation UNIPROT Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 17326097 2007
dbSNP: rs373697663
rs373697663
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		A 0.800 GeneticVariation CLINVAR Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. 12384776 2002
dbSNP: rs373697663
rs373697663
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.800 GeneticVariation UNIPROT Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. 12408190 2002
dbSNP: rs373697663
rs373697663
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		A 0.800 GeneticVariation CLINVAR Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. 12408190 2002
dbSNP: rs373697663
rs373697663
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.800 GeneticVariation UNIPROT Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. 1705937 1991
dbSNP: rs373697663
rs373697663
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		A 0.800 GeneticVariation CLINVAR Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. 1705937 1991
dbSNP: rs373697663
rs373697663
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.800 GeneticVariation UNIPROT Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. 2263616 1990