| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.710 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. | 11241493 | 2001 |
||||
|
0.700 | GeneticVariation | UNIPROT | Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. | 11350187 | 2001 |
||||
|
0.700 | GeneticVariation | UNIPROT | Identification of point mutations in 41 unrelated patients affected with Menkes disease. | 8981948 | 1997 |
||||
|
0.700 | GeneticVariation | UNIPROT | Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. | 10319589 | 1999 |
||||
|
0.700 | GeneticVariation | UNIPROT | Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. | 10401004 | 1999 |
||||
|
0.700 | GeneticVariation | UNIPROT | The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. | 22992316 | 2012 |
||||
|
0.700 | GeneticVariation | UNIPROT | Clinical utility gene card for: Menkes disease. | 21487442 | 2011 |
||||
|
0.700 | GeneticVariation | UNIPROT | Mutation spectrum of ATP7A, the gene defective in Menkes disease. | 10079817 | 1999 |
||||
|
0.700 | GeneticVariation | UNIPROT | Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. | 15981243 | 2005 |
||||
|
0.700 | 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 |
||||
|
0.700 | GeneticVariation | UNIPROT | Diverse mutations in patients with Menkes disease often lead to exon skipping. | 7977350 | 1994 |
||||
|
T | 0.700 | CausalMutation | CLINVAR |