ARG1, arginase 1, 383

N. diseases: 273; N. variants: 47
Disease: Hyperargininemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype CLINVAR Studies on the functional significance of a C-terminal S-shaped motif in human arginase type I: essentiality for cooperative effects. 18957279 2009
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype BEFREE Current Standard of Care (SOC) for ARG1 deficiency in patients or those having detrimental mutations of ARG1 gene is diet control. 29923457 2018
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 CausalMutation phenotype CLINVAR Mouse model for human arginase deficiency. 12052859 2002
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype BEFREE Newborn screening for hyperargininemia due to arginase 1 deficiency. 28659245 2017
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype CLINVAR Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858 2013
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 Biomarker phenotype CLINGEN On arginase and its participation in urea synthesis in the liver. 16747805 1944
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 CausalMutation phenotype CLINVAR Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. 19052914 2008
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 Biomarker phenotype BEFREE We tested whether one of these enzymes, a pegylated human recombinant arginase 1 (AEB1102), reduces plasma arginine in murine models of arginase deficiency. 26358771 2015
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 Biomarker phenotype CLINGEN Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse. 23920045 2013
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype CLINVAR Loss of function mutations in conserved regions of the human arginase I gene. 8902193 1996
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 CausalMutation phenotype CLINVAR Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? 21802329 2012
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype BEFREE Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature. 26123990 2015
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype UNIPROT We screened for ARG1 mutations and measured erythrocyte enzyme activity in a series of 16 Brazilian HA patients. 22959135 2012
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype BEFREE Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. 1463019 1992
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype BEFREE Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene. 2365823 1990
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 CausalMutation phenotype CLINVAR Molecular genetic study of human arginase deficiency. 1598908 1992
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype CLINVAR Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. 27038030 2016
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype CLINVAR Molecular genetic study of human arginase deficiency. 1598908 1992
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 Biomarker phenotype BEFREE Recent studies have highlighted the therapeutic importance of bimetallic human arginase-I against hyperargininemia and L-arginine auxotrophic cancers. 30282613 2018
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype BEFREE A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family. 19936428 2009
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype UNIPROT Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858 2013
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype CLINVAR Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia. 24103480 2014
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 Biomarker phenotype BEFREE Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. 29961243 2018
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 CausalMutation phenotype CLINVAR Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia. 24103480 2014
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		1.000 GeneticVariation phenotype BEFREE Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. 22959135 2012