ARSG, arylsulfatase G, 22901

N. diseases: 48; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748364
Disease: USHER SYNDROME, TYPE IV
USHER SYNDROME, TYPE IV 		0.600 Biomarker disease GENOMICS_ENGLAND A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. 29300381 2018
CUI: C4748364
Disease: USHER SYNDROME, TYPE IV
USHER SYNDROME, TYPE IV 		0.600 GeneticVariation disease UNIPROT A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. 29300381 2018
CUI: C4748364
Disease: USHER SYNDROME, TYPE IV
USHER SYNDROME, TYPE IV 		0.600 Biomarker disease GENOMICS_ENGLAND Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. 22689975 2012
CUI: C4748364
Disease: USHER SYNDROME, TYPE IV
USHER SYNDROME, TYPE IV 		0.600 CausalMutation disease CLINVAR
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.310 Biomarker disease GENOMICS_ENGLAND Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III). 25452429 2015
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.310 GeneticVariation disease BEFREE A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. 20679209 2010
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		0.300 GermlineCausalMutation disease ORPHANET A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. 29300381 2018
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.210 Biomarker disease MGD Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice. 26975023 2016
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.210 Biomarker disease BEFREE Deficiency of arylsulfatase G (ARSG) leads to a lysosomal storage disease in mice resembling biochemical and pathological features of the mucopolysaccharidoses and particularly features of mucopolysaccharidosis type III (Sanfilippo syndrome). 25452429 2015
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.210 Biomarker disease MGD Our results demonstrate the key role of ARSG in heparan sulfate degradation and strongly suggest that ARSG deficiency represents a unique, as yet unknown form of MPS, which we term MPS IIIE. 22689975 2012
CUI: C2749929
Disease: Musician's Dystonia
Musician's Dystonia 		0.120 GeneticVariation disease BEFREE To test for the presence of causal variants, the entire coding region and exon-intron boundaries of ARSG were sequenced in DNA samples from 158 musician's dystonia patients which were collected at the University of Music, Drama, and Media (Hanover, Germany), and 72 patients with writer's cramp which were recruited at the Academic Medical Centers in Amsterdam and Groningen, the Netherlands. 25825126 2015
CUI: C2749929
Disease: Musician's Dystonia
Musician's Dystonia 		0.120 GeneticVariation disease 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
CUI: C2749929
Disease: Musician's Dystonia
Musician's Dystonia 		0.120 GeneticVariation disease GWASDB Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus? 24375517 2014
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.110 GeneticVariation disease BEFREE A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. 29300381 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype BEFREE Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III). 25452429 2015
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.110 CausalMutation disease CLINVAR
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0201952
Disease: Chloride measurement
Chloride measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus? 24375517 2014
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.100 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0018524
Disease: Hallucinations
Hallucinations 		0.100 Biomarker disease HPO