ARSA, arylsulfatase A, 410

N. diseases: 376; N. variants: 158
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148092995
rs148092995
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells. 28762252 2017
dbSNP: rs199476382
rs199476382
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. 28667691 2017
dbSNP: rs74315471
rs74315471
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations. 28670130 2017
dbSNP: rs148092995
rs148092995
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614 2016
dbSNP: rs199476366
rs199476366
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614 2016
dbSNP: rs74315459
rs74315459
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614 2016
dbSNP: rs148092995
rs148092995
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. 25965562 2015
dbSNP: rs199476366
rs199476366
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. 25965562 2015
dbSNP: rs74315459
rs74315459
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. 24001781 2013
dbSNP: rs199476366
rs199476366
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. 22993277 2012
dbSNP: rs199476382
rs199476382
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population. 21167507 2011
dbSNP: rs74315471
rs74315471
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population. 21167507 2011
dbSNP: rs74315480
rs74315480
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		A 0.800 GeneticVariation CLINVAR Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population. 21167507 2011
dbSNP: rs74315480
rs74315480
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		A 0.800 GeneticVariation CLINVAR Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles. 20339381 2010
dbSNP: rs199476382
rs199476382
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. 18786133 2008
dbSNP: rs74315480
rs74315480
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		A 0.800 GeneticVariation CLINVAR 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
dbSNP: rs74315483
rs74315483
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR 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
dbSNP: rs74315483
rs74315483
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. 18786133 2008
dbSNP: rs199476382
rs199476382
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Understanding mutations and protein stability through tripeptides. 16546179 2006
dbSNP: rs74315471
rs74315471
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Understanding mutations and protein stability through tripeptides. 16546179 2006
dbSNP: rs74315459
rs74315459
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. 15720392 2005
dbSNP: rs74315459
rs74315459
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients. 15326627 2004
dbSNP: rs148092995
rs148092995
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). 14517960 2003
dbSNP: rs74315483
rs74315483
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR We identified a late infantile metachromatic leukodystrophy patient carrying on one allele the new E253K mutation and the known T391S polymorphism, and on the other allele the common P426L mutation, usually associated with the adult or juvenile form of the disease, and the N350S and *96A>G pseudodeficiency mutations. 11941485 2002
dbSNP: rs199476366
rs199476366
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease:
Leukodystrophy, Metachromatic 		T 0.800 GeneticVariation CLINVAR Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene. 9090526 1997