rs387906905
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
T |
0.810 |
CausalMutation |
CLINVAR |
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.
|
24789864 |
2014 |
rs387906905
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
T |
0.810 |
CausalMutation |
CLINVAR |
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
|
24319099 |
2014 |
rs387906905
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
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 |
rs387906905
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
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 |
rs387906905
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
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 |
rs387906905
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
T |
0.810 |
CausalMutation |
CLINVAR |
The R316H is a novel de novo mutation found in a patient with CMT2C phenotype.
|
21288981 |
2011 |
rs387906905
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
T |
0.810 |
CausalMutation |
CLINVAR |
Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.
|
21454511 |
2011 |
rs387906905
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
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 |
rs387906905
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
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 |
rs387906905
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
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 |
rs387906905
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
T |
0.810 |
CausalMutation |
CLINVAR |
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
|
20037587 |
2010 |
rs387906905
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
T |
0.810 |
CausalMutation |
CLINVAR |
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
|
20037588 |
2010 |
rs387906905
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
|
20037586 |
2010 |
rs121912632
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
Brachyolmia Type 3
|
|
0.810 |
GeneticVariation |
UNIPROT |
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
|
18587396 |
2008 |
rs121912632
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
Brachyolmia Type 3
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs267607146
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature.
|
26948711 |
2017 |
rs267607146
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4.
|
27751652 |
2016 |
rs121912636
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
Metatropic dwarfism
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
|
26249260 |
2015 |
rs121912637
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
Metatropic dwarfism
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
|
26249260 |
2015 |
rs267607144
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
T |
0.800 |
CausalMutation |
CLINVAR |
Phenotypic variability of TRPV4 related neuropathies.
|
25900305 |
2015 |
rs267607146
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Phenotypic variability of TRPV4 related neuropathies.
|
25900305 |
2015 |
rs267607146
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.
|
26110311 |
2015 |
rs267607147
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
Metatropic dwarfism
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
|
26249260 |
2015 |
rs267607149
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
Metatropic dwarfism
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
|
26249260 |
2015 |
rs387906903
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
Metatropic dwarfism
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
|
26249260 |
2015 |