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: rs28940585
rs28940585
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.810 GeneticVariation UNIPROT Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829 2014
dbSNP: rs28940585
rs28940585
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.810 GeneticVariation UNIPROT Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. 19703900 2009
dbSNP: rs28940585
rs28940585
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.810 GeneticVariation UNIPROT Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 17326097 2007
dbSNP: rs28940585
rs28940585
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.810 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: rs28940585
rs28940585
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.810 GeneticVariation UNIPROT Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. 1705937 1991
dbSNP: rs28940585
rs28940585
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.810 GeneticVariation UNIPROT We conclude (i) that the identification of the R95C mutation in strain 944 demonstrates that virtually all ASAL deficiency results from defects in the ASAL structural gene and (ii) that minor alternative splicing of the coding region occurs at the ASAL locus. 2263616 1990
dbSNP: rs28940585
rs28940585
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		0.810 GeneticVariation BEFREE We conclude (i) that the identification of the R95C mutation in strain 944 demonstrates that virtually all ASAL deficiency results from defects in the ASAL structural gene and (ii) that minor alternative splicing of the coding region occurs at the ASAL locus. 2263616 1990
dbSNP: rs28940585
rs28940585
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		T 0.810 CausalMutation CLINVAR