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 A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
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 GENOMICS_ENGLAND
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 Biomarker disease GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
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 UNIPROT Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy. 9452102 1998
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
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation. 9600244 1998
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 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 GeneticVariation disease UNIPROT Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy. 8891236 1997
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family. 11456299 2001
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 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 Identification of seven novel mutations associated with metachromatic leukodystrophy. 7581401 1995
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT 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 GeneticVariation disease UNIPROT In view of the importance of genetic counseling, analyses of mutations and polymorphisms, including the ARSA pseudodeficiency allele, were carried out in 18 unrelated Spanish MLD patients. 10477432 1999
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. 15710861 2005
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 A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms. 9490297 1998
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed by comprehensive nucleotide sequencing of the ARSA gene to detect rare or private mutations. 14517960 2003
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. 18693274 2008
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		1.000 GeneticVariation disease UNIPROT Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. 1678251 1991