ARG1, arginase 1, 383

N. diseases: 273; N. variants: 47
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28941474
rs28941474
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0268548
Disease:
Hyperargininemia
0.810 GeneticVariation BEFREE Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. 29443755 2018
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: rs2781666
rs2781666
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0020538
Disease:
Hypertensive disease
0.020 GeneticVariation BEFREE Arginase I SNP (rs2781666) may be associated with protection against pulmonary hypertension in preterm neonates with BPD. 24919409 2014
dbSNP: rs2781666
rs2781666
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0027051
Disease:
Myocardial Infarction
0.020 GeneticVariation BEFREE The ARG1 rs2781666 polymorphism was consistently associated with MI and an increased CCA-IMT. 17369504 2007
dbSNP: rs2781666
rs2781666
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0027051
Disease:
Myocardial Infarction
0.020 GeneticVariation BEFREE A significant association between rs2781666 G/T polymorphism of ARG I gene and MI was found in the Tunisian male population. 19896478 2010
dbSNP: rs2781666
rs2781666
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0020538
Disease:
Hypertensive disease
0.020 GeneticVariation BEFREE The frequency of single nucleotide polymorphisms in arginase-1 (ARG1 rs2781666) and dimethylarginine dimethylaminohydrolase-1 (DDAH1 rs480414) genes has been found to differ in a cohort of bronchopulmonary dysplasia patients with pulmonary hypertension (cases) and without pulmonary hypertension (controls). 30267614 2018
dbSNP: rs17599586
rs17599586
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE Among 10 ARG1 polymorphisms selected from databases, 4 single-nucleotide polymorphisms (rs2781666; rs2781667; rs2781668; rs17599586) were tested for association with myocardial infarction (MI) in a case-control study (350 cases vs 581 controls), and with common carotid artery (CCA) intima-media thickness (CCA-IMT) in an independent sample of 963 subjects (Etude du Vieillissement Artériel (EVA) study). 17369504 2007
dbSNP: rs2749935
rs2749935
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE The diagnosis of asthma was associated with rs7216389 in ORMDL3 [odds ratio (OR) 0.74 and 95% confidence interval (95% CI) 0.56-0.99] and rs3756780 in ARG1 (OR 0.67, 95% CI 0.51-0.89) and BDR with rs2749935 in ARG1. 22472724 2012
dbSNP: rs2781659
rs2781659
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0242350
Disease:
Erectile dysfunction
0.010 GeneticVariation BEFREE ARG1 rs2781659 AA and rs2781667 TT genotypes are associated with lower IIEF scores (higher severity) only in clinical ED. 26537638 2015
dbSNP: rs2781665
rs2781665
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The variant genotypes of rs2781666 and rs2781665 were significantly associated with T2DM when compared with controls (P< 0.0001). 30233283 2018
dbSNP: rs2781666
rs2781666
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0006287
Disease:
Bronchopulmonary Dysplasia
0.010 GeneticVariation BEFREE Arginase I SNP (rs2781666) may be associated with protection against pulmonary hypertension in preterm neonates with BPD. 24919409 2014
dbSNP: rs2781666
rs2781666
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE Haplotype TT at rs2781666G/T and rs2781667C/T also showed a significantly association (P < .0001).To our knowledge, this is the first report to show a significant involvement of ARG1 polymorphisms to produce IDCM symptoms in subjects originating in Pakistan. 31764771 2019
dbSNP: rs2781666
rs2781666
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The variant genotypes of rs2781666 and rs2781665 were significantly associated with T2DM when compared with controls (P< 0.0001). 30233283 2018
dbSNP: rs2781666
rs2781666
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0085580
Disease:
Essential Hypertension
0.010 GeneticVariation BEFREE The ARG1 noncoding polymorphisms (rs2781666; Chr6:131572419-G/T and rs2781667; Chr6:131573754-C/T) were investigated in 570 subjects, including 285 individuals diagnosed with EH. 29756997 2018
dbSNP: rs2781666
rs2781666
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE The serum lipids were quantified using spectrophotometric assay, serum arginase activity was done by enzyme colorimetric assay and 2 polymorphisms (rs2781666 and rs2781667) in ARG1 were typed by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) to find out disease associate allele/haplotype segregating in subjects affected by IDCM.Significantly high arginase activity was found to be associated with IDCM subjects when compared with population-matched healthy controls (P < .0001). 31764771 2019
dbSNP: rs2781666
rs2781666
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE The transmission-disequilibrium test revealed a significant association of rs2781666 and rs2781667 polymorphisms with CAD (p < 0.0001 for each). 30526064 2019
dbSNP: rs2781666
rs2781666
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE This study indicated that high arginase activity and IL-13 concentration in the serum and ARG1 rs2781666 G/T genotype might increase the risk of asthma in susceptible population. 30381539 2018
dbSNP: rs2781667
rs2781667
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE Among 10 ARG1 polymorphisms selected from databases, 4 single-nucleotide polymorphisms (rs2781666; rs2781667; rs2781668; rs17599586) were tested for association with myocardial infarction (MI) in a case-control study (350 cases vs 581 controls), and with common carotid artery (CCA) intima-media thickness (CCA-IMT) in an independent sample of 963 subjects (Etude du Vieillissement Artériel (EVA) study). 17369504 2007
dbSNP: rs2781667
rs2781667
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE Haplotype TT at rs2781666G/T and rs2781667C/T also showed a significantly association (P < .0001).To our knowledge, this is the first report to show a significant involvement of ARG1 polymorphisms to produce IDCM symptoms in subjects originating in Pakistan. 31764771 2019
dbSNP: rs2781667
rs2781667
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE The serum lipids were quantified using spectrophotometric assay, serum arginase activity was done by enzyme colorimetric assay and 2 polymorphisms (rs2781666 and rs2781667) in ARG1 were typed by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) to find out disease associate allele/haplotype segregating in subjects affected by IDCM.Significantly high arginase activity was found to be associated with IDCM subjects when compared with population-matched healthy controls (P < .0001). 31764771 2019
dbSNP: rs2781667
rs2781667
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0085580
Disease:
Essential Hypertension
0.010 GeneticVariation BEFREE The ARG1 noncoding polymorphisms (rs2781666; Chr6:131572419-G/T and rs2781667; Chr6:131573754-C/T) were investigated in 570 subjects, including 285 individuals diagnosed with EH. 29756997 2018
dbSNP: rs2781667
rs2781667
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE The transmission-disequilibrium test revealed a significant association of rs2781666 and rs2781667 polymorphisms with CAD (p < 0.0001 for each). 30526064 2019
dbSNP: rs2781667
rs2781667
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE ARG1 rs2781666G/T and rs2781667C/T polymorphisms were characterized in a case-control study consisting of 200 complex Pakistani families with CAD history. 30526064 2019
dbSNP: rs2781668
rs2781668
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE Among 10 ARG1 polymorphisms selected from databases, 4 single-nucleotide polymorphisms (rs2781666; rs2781667; rs2781668; rs17599586) were tested for association with myocardial infarction (MI) in a case-control study (350 cases vs 581 controls), and with common carotid artery (CCA) intima-media thickness (CCA-IMT) in an independent sample of 963 subjects (Etude du Vieillissement Artériel (EVA) study). 17369504 2007
dbSNP: rs3756780
rs3756780
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE The diagnosis of asthma was associated with rs7216389 in ORMDL3 [odds ratio (OR) 0.74 and 95% confidence interval (95% CI) 0.56-0.99] and rs3756780 in ARG1 (OR 0.67, 95% CI 0.51-0.89) and BDR with rs2749935 in ARG1. 22472724 2012