Disease: Arthrogryposis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 CausalMutation disease CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 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
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: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 CausalMutation disease CLINVAR 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 HPO