Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777450
rs587777450
PIEZO2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures. 27607563

2017
dbSNP: rs587777450
rs587777450
PIEZO2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. 27912047

2016
dbSNP: rs587777450
rs587777450
PIEZO2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR The Role of PIEZO2 in Human Mechanosensation. 27653382

2016
dbSNP: rs587777450
rs587777450
PIEZO2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. 25712306

2015
dbSNP: rs587777450
rs587777450
PIEZO2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature. 24649842

2014
dbSNP: rs587777450
rs587777450
PIEZO2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473

2014
dbSNP: rs587777450
rs587777450
PIEZO2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. 23487782

2013
dbSNP: rs587777450
rs587777450
PIEZO2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Arthrogryposis: a review and update. 19571066

2009
dbSNP: rs587777450
rs587777450
PIEZO2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Pulmonary disease is a component of distal arthrogryposis type 5. 17345626

2007