ASL, argininosuccinate lyase, 435

N. diseases: 99; N. variants: 85
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
dbSNP: rs28940287
rs28940287
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		T 0.800 CausalMutation CLINVAR Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen. 27515243 2017
dbSNP: rs28940286
rs28940286
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		T 0.800 CausalMutation CLINVAR Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions. 26745957 2016
dbSNP: rs28940286
rs28940286
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		T 0.800 CausalMutation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938 2015
dbSNP: rs28940286
rs28940286
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		T 0.800 GeneticVariation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938 2015
dbSNP: rs28940287
rs28940287
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		T 0.800 CausalMutation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938 2015
dbSNP: rs28941472
rs28941472
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		G 0.800 CausalMutation CLINVAR Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938 2015
dbSNP: rs28941473
rs28941473
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		A 0.800 CausalMutation 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 Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 25778938 2015
dbSNP: rs28940286
rs28940286
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		T 0.800 GeneticVariation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829 2014
dbSNP: rs28940286
rs28940286
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: rs28940286
rs28940286
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		T 0.800 CausalMutation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829 2014
dbSNP: rs28940287
rs28940287
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: rs28941472
rs28941472
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: rs28941472
rs28941472
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease:
Argininosuccinic Aciduria 		G 0.800 CausalMutation CLINVAR Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 24166829 2014
dbSNP: rs28941473
rs28941473
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 		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