Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. | 26593283 | 2016 |
|||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. | 15098231 | 2004 |
|||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. | 26593283 | 2016 |
|||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. | 24016303 | 2013 |
|||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. | 8670792 | 1996 |
|||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | Peroxisome biogenesis disorders. | 17055079 | 2006 |
|||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. | 11873320 | 2002 |
|||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | Metabolic and molecular basis of peroxisomal disorders: a review. | 15098234 | 2004 |
|||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. | 24016303 | 2013 |
|||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. | 15098231 | 2004 |
|||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR |