Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 GeneticVariation BEFREE Here, we found that pathogenic and protective mutations in arylsulfatase A (ARSA), a gene responsible for metachromatic leukodystrophy, a lysosomal storage disorder, are linked to Parkinson's disease. 31312839

2019

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 GeneticVariation BEFREE Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations. 31410132

2019

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 Biomarker BEFREE The aim of this study was to identify the variation profile in Indian patients presenting with features of Arylsulfatase A deficient metachromatic leukodystrophy. 30674982

2019

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 GeneticVariation BEFREE Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. 31186049

2019

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 GeneticVariation BEFREE In MLD mutations in the arylsulfatase A (ARSA) gene cause ARSA deficiency with subsequent accumulation of 3-sulfogalactocerebroside especially in oligodendrocytes. 31195190

2019

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 AlteredExpression BEFREE Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. 31684987

2019

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 Biomarker BEFREE The two kinetically optimized hARSA variants showed no immunogenic potential in ERT of a humanized ARSA knockout mouse model of metachromatic leukodystrophy (MLD) and reduced lysosomal storage of kidney, peripheral and central nervous system up to 3-fold more efficiently than wild-type hARSA. 30657900

2019

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 Biomarker BEFREE Acute flaccid paralysis as the initial clinical presentation is previously known in ARSA-deficient MLD. 31319425

2019

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 GeneticVariation BEFREE The patient was found to be homozygous for an unusual missense mutation in the arylsulfatase A gene confirming the diagnosis of MLD. 30828547

2019

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 GeneticVariation BEFREE Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder. 29111560

2019

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 GeneticVariation BEFREE Metachromatic leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease caused by deficient activity of arylsulfatase A. 31036045

2019

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 Biomarker BEFREE Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD. 30083785

2018

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 Biomarker BEFREE Background Metachromatic leukodystrophy (MLD) is an autosomal recessively (AR) inherited disease caused by the deficiency of the enzyme arylsulfatase A (ARSA). 30052522

2018

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 GeneticVariation BEFREE Biochemical blood essays showed a 91% reduction in the arylsulfatase A activity and genetic analysis revealed compound heterozygous mutations of the <i>Arylsulfatase A</i> gene, enabling diagnosis of MLD. 30197627

2018

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 GeneticVariation BEFREE The novel p.L113P mutation in a Pakistani family with late infantile MLD has a pathogenic and destructive effect on the protein structure and function of ARSA. 28799099

2017

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 Biomarker BEFREE Serial plasma samples from an MLD patient post-therapeutic bone marrow transplant proved similar to non-disease controls with C18 sulfatide concentrations below the limit of quantification, as did samples from three individuals with an arylsulfatase A pseudodeficiency - a population variant which appears deficient upon enzymatic assay, without manifestation of disease. 28088283

2017

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 Biomarker BEFREE The lysosomal storage disorder (LSD) metachromatic leukodystrophy (MLD) is caused by a deficiency of the soluble, lysosomal hydrolase arylsulfatase A (ASA). 28215668

2017

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 AlteredExpression BEFREE The constructs were overexpressed using retroviral gene transfer in immortalized, human multipotent mesenchymal stromal cells prepared from a patient deficient in ARSA activity (late infantile MLD). 28762252

2017

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 AlteredExpression BEFREE Intracerebral transplantation of hiPS-NSCs into neonatal and adult immunodeficient MLD mice stably restored ARSA activity in the whole central nervous system. 28191778

2017

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 Biomarker BEFREE MLD occurs due to the deficiency of enzyme arylsulfatase A (ARSA) in leukocytes, and patients with MLD excrete sulfatide in their urine. 28670130

2017

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 Biomarker BEFREE Metachromatic leukodystrophy (a deficiency of arylsulfatase A [ARSA]) is a fatal demyelinating lysosomal disease with no approved treatment. 27289174

2016

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 AlteredExpression BEFREE Biochemical testing showing low arylsulfatase A levels were initially thought to be consistent with a diagnosis of metachromatic leukodystrophy. 26825355

2016

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 AlteredExpression BEFREE The results of MRI and low ARSA activity confirmed the diagnosis of MLD. 27374302

2016

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 Biomarker BEFREE Metachromatic leukodystrophy (MLD) and globoid cell leukodystrophy (GLD or Krabbe disease) are severe neurodegenerative lysosomal storage diseases (LSD) caused by arylsulfatase A (ARSA) and galactosylceramidase (GALC) deficiency, respectively. 27025653

2016

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 GeneticVariation BEFREE In a patient with early onset dementia, strategic diagnostic workup including genetic assessment revealed an adult-onset metachromatic leukodystrophy with a novel mutation in the arylsulfatase A gene. 26890752

2016