Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		1.000 GeneticVariation LHGDN Molecular and clinical consequences of novel mutations in the arylsulfatase A gene. 19021637

2009
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		1.000 GeneticVariation LHGDN 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
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		1.000 Biomarker LHGDN Induction of tolerance to human arylsulfatase A in a mouse model of metachromatic leukodystrophy. 17660863

2007
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		1.000 AlteredExpression LHGDN Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy. 17845130

2007
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		1.000 GeneticVariation LHGDN Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. 16678723

2006
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		1.000 Biomarker LHGDN We believe that AAV5-mediated brain delivery of ARSA is a potentially efficacious therapeutic strategy for MLD patients, especially for those with rapidly progressive form of the disease. 16311251

2006
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		1.000 AlteredExpression LHGDN Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. 15772092

2005
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		1.000 GeneticVariation LHGDN Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type. 16110195

2005
Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		1.000 GeneticVariation LHGDN 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
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		1.000 GeneticVariation LHGDN Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity. 11941485

2002