NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Arthrogryposis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.110 Biomarker disease BEFREE Currently, mutated NEB is under-recognized as a cause for AMC/FADS. 27933661 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.110 Biomarker disease HPO