Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796033
Disease: MARDEN-WALKER SYNDROME
MARDEN-WALKER SYNDROME 		0.740 CausalMutation disease 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
CUI: C0796033
Disease: MARDEN-WALKER SYNDROME
MARDEN-WALKER SYNDROME 		0.740 GermlineCausalMutation disease ORPHANET 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 Biomarker disease GENOMICS_ENGLAND 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 UNIPROT 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: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.740 Biomarker disease CTD_human
CUI: C0796033
Disease: MARDEN-WALKER SYNDROME
MARDEN-WALKER SYNDROME 		0.740 Biomarker disease CTD_human
CUI: C4310692
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		0.600 GeneticVariation disease UNIPROT Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures. 27607563 2017
CUI: C4310692
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		0.600 GeneticVariation disease UNIPROT The Role of PIEZO2 in Human Mechanosensation. 27653382 2016
CUI: C4310692
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		0.600 Biomarker disease CTD_human
CUI: C4310692
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		0.600 CausalMutation disease CLINVAR
CUI: C4310692
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		0.600 GeneticVariation disease CLINVAR
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.300 Biomarker group GENOMICS_ENGLAND Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
CUI: C1834523
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B
ARTHROGRYPOSIS, DISTAL, TYPE 2B 		0.300 GermlineCausalMutation disease ORPHANET 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 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 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 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 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 Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 27974811 2017
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 CausalMutation disease CLINVAR
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.170 Biomarker disease HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 CausalMutation disease CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.130 GeneticVariation disease BEFREE Mutations of PIEZO2 gene have been reported to be associated with progressive scoliosis and impaired proprioception. 31513102 2020
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