rs150244667, ASL

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Argininosuccinic Aciduria
CUI: C0268547
Disease: Argininosuccinic Aciduria
0.700 GeneticVariation UNIPROT Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829 2014
Argininosuccinic Aciduria
CUI: C0268547
Disease: Argininosuccinic Aciduria
0.700 GeneticVariation UNIPROT Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. 19703900 2009
Argininosuccinic Aciduria
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
Argininosuccinic Aciduria
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
Argininosuccinic Aciduria
CUI: C0268547
Disease: Argininosuccinic Aciduria
0.700 GeneticVariation UNIPROT Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. 1705937 1991
Argininosuccinic Aciduria
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