Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 CausalMutation disease CLINVAR Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. 16678723 2006
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease CLINVAR High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy. 8101038 1993
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease CLINVAR Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. 16966551 2006
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease BEFREE It is therefore concluded that the R496H mutation of ARSA does not negatively influence the activity of ARSA and is not a cause of MLD. 9744473 1998
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 Biomarker disease BEFREE ASA knockout mice, which develop a disorder related to MLD, have therefore been treated by ex vivo and in vivo gene therapy. 15709909 2005
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 CausalMutation disease CLINVAR A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy. 7815434 1994
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease BEFREE Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. 15026521 2004
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 AlteredExpression disease BEFREE Three of 45 patients had significantly reduced ASA activity but none had metachromatic leucodystrophy. 1975970 1990
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease BEFREE Prosaposin (PSAP) gene mutations, affecting saposin B (Sap-B) domain, cause a rare metachromatic leukodystrophy (MLD) variant in which arylsulfatase A (ARSA) activity is normal. 24478108 2014
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 CausalMutation disease CLINVAR Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation. 12035837 2002
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 CausalMutation disease CLINVAR Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy. 26131420 2015
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations. 12503099 2003
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease BEFREE An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient. 14571263 2004
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 Biomarker disease BEFREE Our data indicate that neural precursors generated via reprogramming from MLD patients can be engineered to ameliorate sulfatide accumulation and may thus serve as autologous cell-based vehicle for continuous ARSA supply in MLD-affected brain tissue. 26061647 2015
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease BEFREE Additionally, 11 other rare ARSA-MLD mutations were found at lower frequencies in our cohort of MLD patients. 25965562 2015
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease CLINVAR Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells. 28762252 2017
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease LHGDN Molecular and clinical consequences of novel mutations in the arylsulfatase A gene. 19021637 2009
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease BEFREE Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD). 19699491 2009
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 AlteredExpression disease BEFREE The diagnosis of metachromatic leukodystrophy (MLD) was confirmed by the finding of low arylsulfatase A (ASA) levels in cultured fibroblasts in both sisters. 3577670 1987
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 CausalMutation disease CLINVAR A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy. 8982952 1996
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 Biomarker disease BEFREE Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family. 15452 1977
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Variable onset of metachromatic leukodystrophy in a Vietnamese family. 11020646 2000
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T. 12788103 2003
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 Biomarker disease BEFREE The production of active Arylsulfatase A is a key step in the development of enzyme replacement therapy for Metachromatic Leukodystrophy. 15862354 2005