| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | 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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|
A | 0.700 | GeneticVariation | CLINVAR | Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. | 18786133 | 2008 |
|||
|
A | 0.700 | 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 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. | 18786133 | 2008 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. | 16678723 | 2006 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. | 16678723 | 2006 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A. | 12086582 | 2002 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. | 7825603 | 1995 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. | 7825603 | 1995 |