Disease: Arthrogryposis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 GeneticVariation disease BEFREE Affected individuals from 17 families (35.4%) had variants in known arthrogryposis-associated genes, including homozygous variants of cholinergic γ nicotinic receptor (CHRNG, 6 subjects) and endothelin converting enzyme-like 1 (ECEL1, 4 subjects). 26752647 2016
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 GeneticVariation disease BEFREE These were rare cases of congenital arthrogryposis multiplex related to novel recessive CHRNG variants in two Korean kindred without apparent relatedness. 25608830 2015
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 Biomarker disease CTD_human Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. 16826520 2006
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 Biomarker disease CTD_human Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. 16826531 2006
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 Biomarker disease HPO