ARSG, arylsulfatase G, 22901

N. diseases: 48; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11655081
rs11655081
Entrez Id: 22901
Gene Symbol: ARSG
ARSG
CUI: C2749929
Disease:
Musician's Dystonia
0.710 GeneticVariation BEFREE Genome-wide significance with MD was observed for an intronic variant in the arylsulfatase G (ARSG) gene (rs11655081; P = 3.95 × 10(-9) ; odds ratio [OR], 4.33; 95% confidence interval [CI], 2.66-7.05). rs11655081 was also associated with WD (P = 2.78 × 10(-2) ) but not with any other focal or segmental dystonia. 24375517 2014
dbSNP: rs11655081
rs11655081
Entrez Id: 22901
Gene Symbol: ARSG
ARSG
CUI: C2749929
Disease:
Musician's Dystonia
0.710 GeneticVariation GWASDB Genome-wide significance with MD was observed for an intronic variant in the arylsulfatase G (ARSG) gene (rs11655081; P = 3.95 × 10(-9) ; odds ratio [OR], 4.33; 95% confidence interval [CI], 2.66-7.05). rs11655081 was also associated with WD (P = 2.78 × 10(-2) ) but not with any other focal or segmental dystonia. 24375517 2014
dbSNP: rs2302783
rs2302783
Entrez Id: 5573;22901;55062
Gene Symbol: PRKAR1A;ARSG;WIPI1
PRKAR1A;ARSG;WIPI1
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2302783
rs2302783
Entrez Id: 5573;22901;55062
Gene Symbol: PRKAR1A;ARSG;WIPI1
PRKAR1A;ARSG;WIPI1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4968794
rs4968794
Entrez Id: 9120;22901
Gene Symbol: SLC16A6;ARSG
SLC16A6;ARSG
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6501468
rs6501468
Entrez Id: 5573;22901;55062
Gene Symbol: PRKAR1A;ARSG;WIPI1
PRKAR1A;ARSG;WIPI1
CUI: C0017654
Disease:
Glomerular Filtration Rate
T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs78095701
rs78095701
Entrez Id: 5573;22901;55062
Gene Symbol: PRKAR1A;ARSG;WIPI1
PRKAR1A;ARSG;WIPI1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12943181
rs12943181
Entrez Id: 5573;22901;55062
Gene Symbol: PRKAR1A;ARSG;WIPI1
PRKAR1A;ARSG;WIPI1
CUI: C1269683
Disease:
Major Depressive Disorder
C 0.700 GeneticVariation GWASCAT Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways. 29662059 2018
dbSNP: rs35397826
rs35397826
Entrez Id: 9120;22901
Gene Symbol: SLC16A6;ARSG
SLC16A6;ARSG
CUI: C0337443
Disease:
Sodium measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs35397826
rs35397826
Entrez Id: 9120;22901
Gene Symbol: SLC16A6;ARSG
SLC16A6;ARSG
CUI: C0201952
Disease:
Chloride measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs2302783
rs2302783
Entrez Id: 5573;22901;55062
Gene Symbol: PRKAR1A;ARSG;WIPI1
PRKAR1A;ARSG;WIPI1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
C 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs2302783
rs2302783
Entrez Id: 5573;22901;55062
Gene Symbol: PRKAR1A;ARSG;WIPI1
PRKAR1A;ARSG;WIPI1
CUI: C0427460
Disease:
Red cell distribution width determination
C 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs12940626
rs12940626
Entrez Id: 5573;22901;55062
Gene Symbol: PRKAR1A;ARSG;WIPI1
PRKAR1A;ARSG;WIPI1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs12940626
rs12940626
Entrez Id: 5573;22901;55062
Gene Symbol: PRKAR1A;ARSG;WIPI1
PRKAR1A;ARSG;WIPI1
CUI: C0427460
Disease:
Red cell distribution width determination
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs11655081
rs11655081
Entrez Id: 22901
Gene Symbol: ARSG
ARSG
CUI: C0751093
Disease:
Dystonia, Limb
0.700 GeneticVariation GWASCAT Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus? 24375517 2014
dbSNP: rs1568445893
rs1568445893
Entrez Id: 22901
Gene Symbol: ARSG
ARSG
CUI: C0271097
Disease:
Usher Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1568445893
rs1568445893
Entrez Id: 22901
Gene Symbol: ARSG
ARSG
CUI: C4748364
Disease:
USHER SYNDROME, TYPE IV
T 0.700 CausalMutation CLINVAR
dbSNP: rs11655081
rs11655081
Entrez Id: 22901
Gene Symbol: ARSG
ARSG
CUI: C0393593
Disease:
Dystonia Disorders
0.010 GeneticVariation BEFREE We found an association between the known risk variant ARSG rs11655081 and dystonia (p = 0.003). 31731261 2019
dbSNP: rs11655081
rs11655081
Entrez Id: 22901
Gene Symbol: ARSG
ARSG
CUI: C0005747
Disease:
Blepharospasm
0.010 GeneticVariation BEFREE Only a marginal trend for the association between rs11655081 and the risk of BSP was found in the over-dominant model of inheritance [odds ratio, OR (95% confidence interval, CI): 0.64 (0.38-1.07), p = 0.088]. 30656493 2019
dbSNP: rs11655081
rs11655081
Entrez Id: 22901
Gene Symbol: ARSG
ARSG
CUI: C0743332
Disease:
Focal Dystonia
0.010 GeneticVariation BEFREE There is recent evidence, based on results from GWAS and meta-analyses, to suggest that arylsulfatase G (ARSG), and more specifically rs11655081, is implicated in focal dystonia. 30656493 2019
dbSNP: rs11655081
rs11655081
Entrez Id: 22901
Gene Symbol: ARSG
ARSG
CUI: C0013421
Disease:
Dystonia
0.010 GeneticVariation BEFREE We found an association between the known risk variant ARSG rs11655081 and dystonia (p = 0.003). 31731261 2019
dbSNP: rs15673
rs15673
Entrez Id: 9120;22901
Gene Symbol: SLC16A6;ARSG
SLC16A6;ARSG
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE Furthermore, rs659366-AA at UCP2 and rs15673-TT at UCP3 were correlated to diabetes in a small sub-group of patients. 28281015 2017
dbSNP: rs15673
rs15673
Entrez Id: 9120;22901
Gene Symbol: SLC16A6;ARSG
SLC16A6;ARSG
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE Furthermore, rs659366-AA at UCP2 and rs15673-TT at UCP3 were correlated to diabetes in a small sub-group of patients. 28281015 2017
dbSNP: rs61999318
rs61999318
Entrez Id: 5573;22901
Gene Symbol: PRKAR1A;ARSG
PRKAR1A;ARSG
CUI: C4316810
Disease:
Writer's Cramp
0.010 GeneticVariation BEFREE However, we showed an association with rs61999318 in patients with writer's cramp that contributed to an overall enrichment for rare, protein-changing variants in these patients. 25825126 2015
dbSNP: rs61999318
rs61999318
Entrez Id: 5573;22901
Gene Symbol: PRKAR1A;ARSG
PRKAR1A;ARSG
CUI: C0154676
Disease:
Organic writer's cramp
0.010 GeneticVariation BEFREE However, we showed an association with rs61999318 in patients with writer's cramp that contributed to an overall enrichment for rare, protein-changing variants in these patients. 25825126 2015