Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | TRPV4 mutations in children with congenital distal spinal muscular atrophy. | 22526352 | 2012 |
||||
|
0.700 | GeneticVariation | UNIPROT | Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. | 22702953 | 2012 |
||||
|
0.700 | GeneticVariation | UNIPROT | Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. | 20037588 | 2010 |