| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. | 21031596 | 2011 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. | 21031596 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. | 19105186 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. | 16086329 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. | 16141001 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. | 15542397 | 2004 |
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|
T | 0.700 | GeneticVariation | CLINVAR | The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. | 15542397 | 2004 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. | 9398847 | 1997 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. | 9398848 | 1997 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. | 9398847 | 1997 |