| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.750 | CausalMutation | CLINVAR | Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. | 26462614 | 2016 |
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|
A | 0.750 | CausalMutation | CLINVAR | Molecular bases of metachromatic leukodystrophy in Polish patients. | 20339381 | 2010 |
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|
A | 0.750 | CausalMutation | CLINVAR | Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy. | 11777924 | 2002 |
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|
A | 0.750 | CausalMutation | 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 |
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|
A | 0.750 | CausalMutation | CLINVAR | Genomic DNA from 21 MLD patients (14 late-infantile and 7 juvenile cases) was amplified in four overlapping PCR fragments and tested by allele-specific oligonucleotide (ASO) for the two common mutations 459 + 1G-->A and P426L. | 9090526 | 1997 |
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|
A | 0.750 | CausalMutation | CLINVAR | Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy. | 9096767 | 1997 |
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|
A | 0.750 | CausalMutation | CLINVAR | Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. | 8095918 | 1993 |
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|
A | 0.750 | CausalMutation | CLINVAR | Molecular basis of different forms of metachromatic leukodystrophy. | 1670590 | 1991 |