Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		0.750 GeneticVariation disease BEFREE Here, we describe two distinct PIEZO2 mutations in patients with a subtype of Distal Arthrogryposis Type 5 characterized by generalized autosomal dominant contractures with limited eye movements, restrictive lung disease, and variable absence of cruciate knee ligaments. 23487782 2013
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		0.750 Biomarker disease BEFREE Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. 30938034 2019
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		0.750 GeneticVariation disease BEFREE 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
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		0.750 GeneticVariation disease BEFREE A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. 25712306 2015
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		0.750 GeneticVariation disease BEFREE Dominant PIEZO2 mutations were described in patients with distal arthrogryposis type 5 and Marden-Walker syndrome. 27974811 2017
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.740 GeneticVariation disease BEFREE Heterozygous mutations in PIEZO2 may lead to other phenotypes like Gordon Syndrome and Marden Walker syndrome. 30938034 2019
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.740 GeneticVariation disease BEFREE Therefore, the objective of the present study was to systematically assess the effect of different pathological mutations of PIEZO2 on transcription, translation, as well as protein structure and function that contribute to GS/DA3, DA5, MWS and associated diseases based on a bioinformatics analysis using the Pubmed, ClinVar, RaptorX and Phyre2 online databases. 30988732 2019
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.740 GeneticVariation disease BEFREE Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (PIEZO2) in each family. 24726473 2014
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.740 GeneticVariation disease BEFREE Familial Gordon syndrome associated with a PIEZO2 mutation. 27714920 2017
CUI: C0796033
Disease: MARDEN-WALKER SYNDROME
MARDEN-WALKER SYNDROME 		0.740 GeneticVariation disease BEFREE Mutations in PIEZO2 may cause distal arthrogryposis 3 (DA3)/Gordon syndrome (GS), DA5, Marden-Walker syndrome (MWS) and associated diseases. 30988732 2019
CUI: C0796033
Disease: MARDEN-WALKER SYNDROME
MARDEN-WALKER SYNDROME 		0.740 GeneticVariation disease BEFREE 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
CUI: C0796033
Disease: MARDEN-WALKER SYNDROME
MARDEN-WALKER SYNDROME 		0.740 GeneticVariation disease BEFREE Heterozygous mutations in PIEZO2 may lead to other phenotypes like Gordon Syndrome and Marden Walker syndrome. 30938034 2019
CUI: C0796033
Disease: MARDEN-WALKER SYNDROME
MARDEN-WALKER SYNDROME 		0.740 GeneticVariation disease BEFREE Dominant PIEZO2 mutations were described in patients with distal arthrogryposis type 5 and Marden-Walker syndrome. 27974811 2017
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.170 GeneticVariation disease BEFREE Dominant mutations in PIEZO2, which codes for the principal mechanotransduction channel for proprioception and touch sensation, have been found to cause different forms of distal arthrogryposis. 27607563 2017
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.170 GeneticVariation disease BEFREE Gain-of-function mutations in the human PIEZO2 gene cause three clinical types of autosomal dominant distal arthrogryposis. 28728825 2017
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.170 GeneticVariation disease BEFREE In order to correlate genotype with phenotype in DA, retrospective analyses of phenotypic features according to the TPM2 and PIEZO2 mutation spectrums were carried out. 30285720 2018
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.170 GeneticVariation disease BEFREE Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms. 30988732 2019
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.170 GeneticVariation disease BEFREE Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. 23487782 2013
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.170 GeneticVariation disease BEFREE PIEZO2 mutations have been described in dominant arthrogryposis, but homozygous mutations of PIEZO2 may also be responsible for more complex clinical patterns, associating distal arthrogryposis, neonatal respiratory insufficiency, scoliosis and proprioceptive impairment. 30578100 2019
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.170 GeneticVariation disease BEFREE Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 27974811 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 Biomarker disease BEFREE Based on the present case, posterior spinal fusion represents a good treatment option for severe spinal deformity in PIEZO2-deficient arthrogryposis. 31770315 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 GeneticVariation disease BEFREE Biallelic loss-of-function mutations in PIEZO2 (i.e., PIEZO2 deficiency) were recently found to cause an arthrogryposis syndrome. 30941898 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 GeneticVariation disease BEFREE This new PIEZO2 mutation was in accordance with the phenotype combining arthrogryposis, scoliosis, hyperlaxity and proprioceptive impairment. 30578100 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.130 GeneticVariation disease BEFREE Loss-of-function mutations in the human PIEZO2 gene cause an autosomal recessive syndrome of muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis. 28728825 2017
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.130 GeneticVariation disease BEFREE A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect. 30578100 2019