| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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|
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A | 0.800 | GeneticVariation | CLINVAR | Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome. | 28331055 | 2017 | ||||||
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0.800 | GeneticVariation | UNIPROT | Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. | 19043417 | 2009 | |||||||
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|
0.800 | GeneticVariation | UNIPROT | Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. | 19043416 | 2009 | |||||||
|
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A | 0.800 | GeneticVariation | CLINVAR | Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. | 19043416 | 2009 | ||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. | 19043417 | 2009 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. | 19043416 | 2009 | |||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR |