| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.740 | CausalMutation | CLINVAR | Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene. | 26890752 | 2016 |
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|
C | 0.740 | CausalMutation | CLINVAR | Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. | 26462614 | 2016 |
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|
C | 0.740 | CausalMutation | CLINVAR | Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. | 24001781 | 2013 |
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|
C | 0.740 | GeneticVariation | CLINVAR | Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy. | 23701968 | 2013 |
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|
C | 0.740 | CausalMutation | 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 |
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|
C | 0.740 | CausalMutation | CLINVAR | Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland. | 15952986 | 2005 |
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|
C | 0.740 | CausalMutation | CLINVAR | High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy. | 12081727 | 2002 |
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|
C | 0.740 | CausalMutation | CLINVAR | 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 |
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|
C | 0.740 | CausalMutation | CLINVAR | Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy. | 9096767 | 1997 |
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|
C | 0.740 | CausalMutation | CLINVAR | Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. | 1684088 | 1991 |