Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 Familial Gordon syndrome associated with a PIEZO2 mutation. 27714920 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: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.740 Biomarker disease CTD_human