Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. | 26657514 | 2016 |
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|
0.800 | GeneticVariation | UNIPROT | Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. | 26657514 | 2016 |
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|
0.800 | GeneticVariation | UNIPROT | Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. | 26657514 | 2016 |
||||
|
0.800 | GeneticVariation | UNIPROT | PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. | 25808372 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. | 25808372 | 2015 |
||||
|
0.800 | GeneticVariation | UNIPROT | PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. | 25808372 | 2015 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |