rs387906905, TRPV4
N. diseases: 10
Source: ALL
| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.810 | CausalMutation | CLINVAR | Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. | 24319099 | 2014 | |||||
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.810 | GeneticVariation | UNIPROT | TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂. | 25256292 | 2014 | |||||
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.810 | CausalMutation | CLINVAR | Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. | 24789864 | 2014 | |||||
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.810 | GeneticVariation | UNIPROT | Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. | 22702953 | 2012 | |||||
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.810 | CausalMutation | CLINVAR | The R316H is a novel de novo mutation found in a patient with CMT2C phenotype. | 21288981 | 2011 | |||||
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.810 | GeneticVariation | BEFREE | The R316H is a novel de novo mutation found in a patient with CMT2C phenotype. | 21288981 | 2011 | |||||
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.810 | CausalMutation | CLINVAR | Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies. | 21454511 | 2011 | |||||
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.810 | GeneticVariation | UNIPROT | The R316H is a novel de novo mutation found in a patient with CMT2C phenotype. | 21288981 | 2011 | |||||
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.810 | CausalMutation | CLINVAR | Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. | 20037587 | 2010 | |||||
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.810 | GeneticVariation | UNIPROT | Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. | 20037586 | 2010 | |||||
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.810 | CausalMutation | CLINVAR | Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. | 20037588 | 2010 | |||||
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.810 | GeneticVariation | UNIPROT | Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. | 20037587 | 2010 | |||||
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.810 | GeneticVariation | UNIPROT | CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. | 21115951 | 2010 | |||||
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
0.810 | GeneticVariation | UNIPROT | Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. | 20037588 | 2010 |