Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		0.750 CausalMutation CLINVAR Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families. 24726473

2014
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.740 CausalMutation CLINVAR Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (PIEZO2) in each family. 24726473

2014
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0796033
Disease: MARDEN-WALKER SYNDROME
MARDEN-WALKER SYNDROME 		0.740 CausalMutation CLINVAR Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families. 24726473

2014
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		0.600 CausalMutation CLINVAR

Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		0.600 GeneticVariation CLINVAR

Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.170 CausalMutation CLINVAR

Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.170 Biomarker HPO

Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 CausalMutation CLINVAR Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 27974811

2017
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 Biomarker HPO

Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.130 Biomarker HPO

Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.110 Biomarker HPO

Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.110 Biomarker HPO

Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.110 Biomarker HPO

Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.100 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653

2018
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures. 27607563

2017
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures. 27607563

2017
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.100 CausalMutation CLINVAR Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 27974811

2017
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. 27912047

2016
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The Role of PIEZO2 in Human Mechanosensation. 27653382

2016
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. 27912047

2016
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR The Role of PIEZO2 in Human Mechanosensation. 27653382

2016
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. 25712306

2015
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 GeneticVariation GWASCAT Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine. 26169365

2015