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: rs104893944
rs104893944
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia 		T 0.710 CausalMutation CLINVAR Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? 21802329 2012
dbSNP: rs104893944
rs104893944
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia 		0.710 GeneticVariation BEFREE Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. 10502833 1999
dbSNP: rs104893944
rs104893944
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia 		T 0.710 CausalMutation CLINVAR Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. 10502833 1999