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: rs1449589636
rs1449589636
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.700 GeneticVariation UNIPROT Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829 2014
dbSNP: rs1449589636
rs1449589636
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.700 GeneticVariation UNIPROT Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. 19703900 2009
dbSNP: rs1449589636
rs1449589636
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.700 GeneticVariation UNIPROT Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 17326097 2007
dbSNP: rs1449589636
rs1449589636
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.700 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: rs1449589636
rs1449589636
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.700 GeneticVariation UNIPROT Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. 1705937 1991
dbSNP: rs1449589636
rs1449589636
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.700 GeneticVariation UNIPROT Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. 2263616 1990