rs587777076
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Oculomelic amyoplasia
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
|
24726473 |
2014 |
rs587777076
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Oculomelic amyoplasia
|
|
0.800 |
GeneticVariation |
UNIPROT |
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.
|
23487782 |
2013 |
rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
|
24726473 |
2014 |
rs587777451
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
MARDEN-WALKER SYNDROME
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
|
24726473 |
2014 |
rs587777452
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Oculomelic amyoplasia
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
|
24726473 |
2014 |
rs587777452
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Oculomelic amyoplasia
|
|
0.800 |
GeneticVariation |
UNIPROT |
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.
|
23487782 |
2013 |
rs587777453
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Oculomelic amyoplasia
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
|
24726473 |
2014 |
rs587777453
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Oculomelic amyoplasia
|
|
0.800 |
GeneticVariation |
UNIPROT |
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.
|
23487782 |
2013 |
rs587777454
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Oculomelic amyoplasia
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
|
24726473 |
2014 |
rs587777454
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Oculomelic amyoplasia
|
|
0.800 |
GeneticVariation |
UNIPROT |
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.
|
23487782 |
2013 |
rs886039823
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Cleft Palate
|
|
0.010 |
GeneticVariation |
BEFREE |
The presence of cleft palate was significantly associated with c.8057G>A (Fisher's exact test, adjusted p value < 0.0001).
|
24726473 |
2014 |
rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Cleft palate, isolated
|
|
0.010 |
GeneticVariation |
BEFREE |
The presence of cleft palate was significantly associated with c.8057G>A (Fisher's exact test, adjusted p value < 0.0001).
|
24726473 |
2014 |
rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Uranostaphyloschisis
|
|
0.010 |
GeneticVariation |
BEFREE |
The presence of cleft palate was significantly associated with c.8057G>A (Fisher's exact test, adjusted p value < 0.0001).
|
24726473 |
2014 |
rs587777076
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Oculomelic amyoplasia
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs587777451
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
MARDEN-WALKER SYNDROME
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
|
24726473 |
2014 |
rs587777452
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Oculomelic amyoplasia
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
|
24726473 |
2014 |
rs1057519626
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555621138
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Oculomelic amyoplasia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
|
24726473 |
2014 |
rs1555621138
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Distal arthrogryposis syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1568069621
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Early severe fetal akinesia sequence
|
A |
0.700 |
CausalMutation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
rs1568069621
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Arthrogryposis
|
A |
0.700 |
CausalMutation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
rs1568069621
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Early severe fetal akinesia sequence
|
A |
0.700 |
CausalMutation |
CLINVAR |
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.
|
27974811 |
2017 |
rs1568069621
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Arthrogryposis
|
A |
0.700 |
CausalMutation |
CLINVAR |
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.
|
27974811 |
2017 |
rs1568069621
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|