Gene: ARSA ×
Source: UNIPROT ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene. 9090526 1997
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient. 9272717 1997
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Identification of seven novel mutations associated with metachromatic leukodystrophy. 7581401 1995
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme. 7860068 1995
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. 7825603 1995
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing. 7909527 1994
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients. 7906588 1993
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT 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 UNIPROT An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy. 8104633 1993
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A. 7902317 1993
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Analysis on the nucleotide sequence of the ASA genes from another late-infantile MLD patient revealed the presence of a previously unreported G-to-A mutation at the 1,070th nucleotide of the ASA gene (designated 1070A). 8101083 1993
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT The frequency of two common disease-associated mutations in the arylsulphatase A (ASA) gene, and of a mutation causing ASA pseudodeficiency, have been established in metachromatic leukodystrophy patients diagnosed in our laboratory. 8095918 1993
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. 1353340 1992
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 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: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. 2574462 1989