ARG1, arginase 1, 383

N. diseases: 273; N. variants: 47
Disease: Hyperargininemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893943
rs104893943
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia 		0.800 GeneticVariation UNIPROT Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858 2013
dbSNP: rs104893943
rs104893943
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia 		0.800 GeneticVariation UNIPROT Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. 22959135 2012
dbSNP: rs104893943
rs104893943
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia 		0.800 GeneticVariation UNIPROT Molecular basis of phenotypic variation in patients with argininemia. 7649538 1995
dbSNP: rs104893943
rs104893943
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia 		0.800 GeneticVariation UNIPROT Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. 1463019 1992
dbSNP: rs104893943
rs104893943
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia 		T 0.800 CausalMutation CLINVAR