Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 Biomarker phenotype CTD_human
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 GeneticVariation phenotype BEFREE Hyperargininemia due to mutations in ARG1 gene is an autosomal recessive inborn error of metabolism caused by a defect in the final step of the urea cycle. 24997092 2014
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		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
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 GeneticVariation phenotype BEFREE A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family. 19936428 2009
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 Biomarker phenotype GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 CausalMutation phenotype CLINVAR Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. 19052914 2008
Entrez Id: 9439
Gene Symbol: MED23
MED23 		0.100 CausalMutation phenotype CLINVAR Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. 19052914 2008
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 Biomarker phenotype BEFREE An adult female patient was diagnosed with arginase 1 deficiency (ARG1-D) at 4 years of age, and had been managed with protein restriction combined with sodium benzoate therapy. 31604595 2020
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 GeneticVariation phenotype BEFREE Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. 22959135 2012
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 CausalMutation phenotype CLINVAR Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? 21802329 2012
Entrez Id: 9439
Gene Symbol: MED23
MED23 		0.100 CausalMutation phenotype CLINVAR Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? 21802329 2012
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 Biomarker phenotype CLINGEN Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report. 29443755 2018
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.010 AlteredExpression phenotype BEFREE Blocking arginases using <i>S</i>-(2-boronoethyl)-l-cysteine (BEC) 18 h before ischemia mimicked arginase deficiency by reducing kidney injury, histopathological changes and kidney injury marker-1 expression, renal apoptosis, kidney inflammatory cell recruitment and inflammatory cytokines, and kidney oxidative stress; increasing kidney nitric oxide (NO) production and endothelial NO synthase (eNOS) phosphorylation, kidney peroxisome proliferator-activated receptor-γ coactivator-1α expression, and mitochondrial ATP; and preserving kidney mitochondrial ultrastructure compared with vehicle-treated IRI mice. 28515179 2017
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 CausalMutation phenotype CLINVAR Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia. 26169240 2015
Entrez Id: 9439
Gene Symbol: MED23
MED23 		0.100 CausalMutation phenotype CLINVAR Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia. 26169240 2015
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 GeneticVariation phenotype CLINVAR Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. 27038030 2016
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 CausalMutation phenotype CLINVAR Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. 27038030 2016
Entrez Id: 9439
Gene Symbol: MED23
MED23 		0.100 GeneticVariation phenotype CLINVAR Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. 27038030 2016
Entrez Id: 9439
Gene Symbol: MED23
MED23 		0.100 CausalMutation phenotype CLINVAR Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. 27038030 2016
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		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
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 GeneticVariation phenotype BEFREE Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858 2013
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 GeneticVariation phenotype CLINVAR Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858 2013
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 GeneticVariation phenotype UNIPROT Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858 2013
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 Biomarker phenotype GENOMICS_ENGLAND Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858 2013
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		1.000 Biomarker phenotype CLINGEN Five novel mutations in ARG1 gene in Chinese patients of argininemia. 23859858 2013