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 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 Dominant PIEZO2 mutations were described in patients with distal arthrogryposis type 5 and Marden-Walker syndrome. 27974811 2017
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 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: 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 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: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		0.750 GermlineCausalMutation disease ORPHANET Both types of changes in kinetics result in increased channel activity in response to a given mechanical stimulus, suggesting that Distal Arthrogryposis Type 5 can be caused by gain-of-function mutations in PIEZO2. 23487782 2013
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 GeneticVariation disease UNIPROT Both types of changes in kinetics result in increased channel activity in response to a given mechanical stimulus, suggesting that Distal Arthrogryposis Type 5 can be caused by gain-of-function mutations in PIEZO2. 23487782 2013
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		0.750 Biomarker disease CTD_human
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: 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 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 Familial Gordon syndrome associated with a PIEZO2 mutation. 27714920 2017
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: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.740 Biomarker disease GENOMICS_ENGLAND Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. 27912047 2016
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.740 Biomarker disease GENOMICS_ENGLAND 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 CausalMutation disease CLINVAR 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 GermlineCausalMutation disease ORPHANET 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 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 UNIPROT Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (PIEZO2) in each family. 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 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