Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893948
rs104893948
ARG1 ; MED23
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		0.800 GeneticVariation UNIPROT Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858

2013
dbSNP: rs104893948
rs104893948
ARG1 ; MED23
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		0.800 GeneticVariation UNIPROT Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. 22959135

2012
dbSNP: rs104893948
rs104893948
ARG1 ; MED23
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		0.800 GeneticVariation UNIPROT Molecular basis of phenotypic variation in patients with argininemia. 7649538

1995
dbSNP: rs104893948
rs104893948
ARG1 ; MED23
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		0.800 GeneticVariation UNIPROT Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. 1463019

1992