rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
|
20460441 |
2010 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic variability of TRPV4 related neuropathies.
|
25900305 |
2015 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.
|
27330106 |
2016 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features.
|
1520078 |
1992 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis.
|
4056805 |
1985 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
TRPV4-associated skeletal dysplasias.
|
22791502 |
2012 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
|
26249260 |
2015 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Parastremmatic dwarfism.
|
956253 |
1976 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Familial digital arthropathy-brachydactyly.
|
11891693 |
2002 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
|
21964574 |
2011 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.
|
21115951 |
2010 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
|
19232556 |
2009 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
|
20037588 |
2010 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.
|
22851605 |
2012 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.
|
21288981 |
2011 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
|
18587396 |
2008 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
|
20037587 |
2010 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
|
20503319 |
2010 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
|
20425821 |
2010 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.
|
14755468 |
2004 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.
|
24677493 |
2014 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
|
20037586 |
2010 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
|
28898540 |
2017 |
rs1555205335
|
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
|
20577006 |
2010 |