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 UNIPROT Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. 1463019 1992
dbSNP: rs28941474
rs28941474
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0268548
Disease:
Hyperargininemia 		0.810 GeneticVariation UNIPROT Molecular basis of phenotypic variation in patients with argininemia. 7649538 1995
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: rs28941474
rs28941474
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0268548
Disease:
Hyperargininemia 		0.810 GeneticVariation UNIPROT Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. 22959135 2012
dbSNP: rs28941474
rs28941474
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0268548
Disease:
Hyperargininemia 		0.810 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 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 		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: rs104893948
rs104893948
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: rs104893948
rs104893948
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: rs104893948
rs104893948
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: rs104893948
rs104893948
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: rs2807278
rs2807278
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0028754
Disease:
Obesity 		0.800 GeneticVariation GWASDB A genome-wide association study on obesity and obesity-related traits. 21552555 2011
dbSNP: rs2807278
rs2807278
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0028754
Disease:
Obesity 		0.800 GeneticVariation GWASCAT A genome-wide association study on obesity and obesity-related traits. 21552555 2011
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: rs10484766
rs10484766
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs10484766
rs10484766
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs10484766
rs10484766
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs10484766
rs10484766
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs143633948
rs143633948
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C1836232
Disease:
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 GeneticVariation GWASCAT A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients. 27339598 2016
dbSNP: rs143633948
rs143633948
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0019196
Disease:
Hepatitis C 		0.700 GeneticVariation GWASCAT A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients. 27339598 2016
dbSNP: rs143633948
rs143633948
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C2363741
Disease:
HIV-1 infection 		0.700 GeneticVariation GWASCAT A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients. 27339598 2016
dbSNP: rs143633948
rs143633948
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C1836233
Disease:
AIDS, PROGRESSION TO 		0.700 GeneticVariation GWASCAT A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients. 27339598 2016
dbSNP: rs143633948
rs143633948
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C1836230
Disease:
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 GeneticVariation GWASCAT A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients. 27339598 2016