rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
The Role of PIEZO2 in Human Mechanosensation.
|
27653382 |
2016 |
rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Pulmonary disease is a component of distal arthrogryposis type 5.
|
17345626 |
2007 |
rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature.
|
24649842 |
2014 |
rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
|
24726473 |
2014 |
rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.
|
27607563 |
2017 |
rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
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
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
|
27912047 |
2016 |
rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Arthrogryposis: a review and update.
|
19571066 |
2009 |
rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.
|
25712306 |
2015 |