ATP7A, ATPase copper transporting alpha, 538
N. diseases: 348; N. variants: 107
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.810 | GeneticVariation | UNIPROT | The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression. | 21667063 | 2012 | |||||||
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0.810 | GeneticVariation | UNIPROT | Clinical utility gene card for: Menkes disease. | 21487442 | 2011 | |||||||
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0.810 | GeneticVariation | UNIPROT | We studied two brothers with typical occipital horn syndrome and used yeast complementation and timed growth assays, exploiting a Saccharomyces cerevisiae mutant strain, to assess in vitro N1304S copper transport. | 17108763 | 2006 | |||||||
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0.810 | GeneticVariation | BEFREE | We studied two brothers with typical occipital horn syndrome and used yeast complementation and timed growth assays, exploiting a Saccharomyces cerevisiae mutant strain, to assess in vitro N1304S copper transport. | 17108763 | 2006 | |||||||
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0.810 | GeneticVariation | UNIPROT | A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. | 11431706 | 2001 | |||||||
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0.810 | GeneticVariation | UNIPROT | A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. | 9246006 | 1997 | |||||||
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G | 0.810 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression. | 21667063 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: Menkes disease. | 21487442 | 2011 | |||||||
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0.800 | GeneticVariation | UNIPROT | Functional copper transport explains neurologic sparing in occipital horn syndrome. | 17108763 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. | 11431706 | 2001 | |||||||
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0.800 | GeneticVariation | UNIPROT | A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. | 9246006 | 1997 | |||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR |