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: 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
dbSNP: rs11442179
rs11442179
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		G 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs2246012
rs2246012
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs2608913
rs2608913
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		C 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
dbSNP: rs2781668
rs2781668
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs558639320
rs558639320
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		G 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs56013828
rs56013828
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0011847
Disease:
Diabetes 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs56013828
rs56013828
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0011849
Disease:
Diabetes Mellitus 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs56013828
rs56013828
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs9375818
rs9375818
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs9375818
rs9375818
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
dbSNP: rs2246012
rs2246012
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. 30054458 2018
dbSNP: rs2781656
rs2781656
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs2781656
rs2781656
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs2781668
rs2781668
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs104893940
rs104893940
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia 		T 0.700 GeneticVariation CLINVAR Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. 27038030 2016
dbSNP: rs140549609
rs140549609
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia 		G 0.700 CausalMutation CLINVAR Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. 27038030 2016
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
dbSNP: rs143633948
rs143633948
Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C1836231
Disease:
HIV-1, RESISTANCE 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: rs1064794165
rs1064794165
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia 		C 0.700 CausalMutation CLINVAR Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia. 26169240 2015
dbSNP: rs104893940
rs104893940
Entrez Id: 383;9439
Gene Symbol: ARG1;MED23
ARG1;MED23
CUI: C0268548
Disease:
Hyperargininemia 		T 0.700 GeneticVariation CLINVAR Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia. 24103480 2014