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 Biomarker disease GENOMICS_ENGLAND Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. 2574462 1989
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 Biomarker disease BEFREE Cellulose acetate gel electrophoresis of fibroblast extracts from the patient showed no detectable arylsulfatase A isozyme under conditions that clearly distinguished pseudo-arylsulfatase A deficiency from classical MLD. 2568751 1989
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 While most patients with metachromatic leukodystrophy have mutations in the gene for arylsulfatase A, some patients have deficient SAP-1, as determined by immunological techniques. 1689485 1990
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 Biomarker disease BEFREE While most patients with metachromatic leukodystrophy have defects in arylsulfatase A, some patients have defects in SAP-1. 2302219 1990
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 CausalMutation disease CLINVAR Structure of the arylsulfatase A gene. 1975241 1990
Entrez Id: 5660
Gene Symbol: PSAP
PSAP 		0.300 GeneticVariation disease BEFREE Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. 2302219 1990
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 CausalMutation disease CLINVAR Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. 1684088 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease BEFREE Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. 1684088 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 Biomarker disease BEFREE Arylsulfatase A (ASA) pseudodeficiency does per definitionem not lead to metachromatic leukodystrophy. 1687779 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease BEFREE This patient is another example where absence of ASA polypeptides correlates with the severe late infantile form of metachromatic leukodystrophy. 1676699 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease BEFREE Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. 1678251 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease BEFREE An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy. 1671769 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 CausalMutation disease CLINVAR Molecular basis of different forms of metachromatic leukodystrophy. 1670590 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. 1678251 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease CLINVAR Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. 1678251 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 Biomarker disease BEFREE Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ASA). 1687778 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease BEFREE In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD. 1673291 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 Biomarker disease GENOMICS_ENGLAND Molecular basis of different forms of metachromatic leukodystrophy. 1670590 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease BEFREE Two alleles (termed I and A) were identified and accounted for about half of all arylsulfatase A alleles among 68 patients with metachromatic leukodystrophy whom we examined. 1670590 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 CausalMutation disease CLINVAR In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD. 1673291 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD. 1673291 1991
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Molecular basis of different forms of metachromatic leukodystrophy. 1670590 1991
Entrez Id: 5660
Gene Symbol: PSAP
PSAP 		0.300 Biomarker disease BEFREE The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy. 2066109 1991
Entrez Id: 132320
Gene Symbol: SCLT1
SCLT1 		0.010 Biomarker disease BEFREE The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy. 2066109 1991