| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
0.800 | GeneticVariation | UNIPROT | The molecular basis of aminoacylase 1 deficiency. | 21414403 | 2011 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | The molecular basis of aminoacylase 1 deficiency. | 21414403 | 2011 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | The molecular basis of aminoacylase 1 deficiency. | 21414403 | 2011 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | The molecular basis of aminoacylase 1 deficiency. | 21414403 | 2011 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Neurological findings in aminoacylase 1 deficiency. | 17562838 | 2007 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Neurological findings in aminoacylase 1 deficiency. | 17562838 | 2007 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Neurological findings in aminoacylase 1 deficiency. | 17562838 | 2007 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Neurological findings in aminoacylase 1 deficiency. | 17562838 | 2007 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. | 16465618 | 2006 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. | 16465618 | 2006 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. | 16465618 | 2006 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. | 16465618 | 2006 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Aminoacylase I deficiency: a novel inborn error of metabolism. | 16274666 | 2005 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Aminoacylase I deficiency: a novel inborn error of metabolism. | 16274666 | 2005 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Aminoacylase I deficiency: a novel inborn error of metabolism. | 16274666 | 2005 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Aminoacylase I deficiency: a novel inborn error of metabolism. | 16274666 | 2005 | |||||||
|
|
|
T | 0.800 | GeneticVariation | CLINVAR | |||||||||
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|
|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
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|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.700 | GeneticVariation | GWASCAT | Leveraging Polygenic Functional Enrichment to Improve GWAS Power. | 30595370 | 2019 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | The molecular basis of aminoacylase 1 deficiency. | 21414403 | 2011 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Neurological findings in aminoacylase 1 deficiency. | 17562838 | 2007 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. | 16465618 | 2006 |