NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Generalized muscle weakness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		0.120 GeneticVariation phenotype BEFREE Since the patients are characterized by generalized muscle weakness together with neurodevelopmental phenotypes, it is suggested that NEB mutations could manifest more diverse phenotypes than those previously described. 25296583 2014
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		0.120 GeneticVariation phenotype BEFREE Recessive nebulin (NEB) mutations are a common cause of nemaline myopathy (NM), typically characterized by generalized weakness of early-onset and nemaline rods on muscle biopsy. 23443021 2013
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		0.120 Biomarker phenotype HPO