NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Myopathies, Nemaline ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Recently, new large variants have been identified in the nebulin gene (NEB) causing nemaline myopathy (NM). 26197980 2016
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy. 22367672 2012
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. 30467404 2019
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 15336686 2004
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE The nebulin (NEB) gene is the most commonly mutated and is thought to account for approximately 50% of genetically diagnosed cases of NM. 24725366 2014
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation disease CLINVAR Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 15336686 2004
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation disease CLINVAR Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. 25110572 2014
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Mutations in the nebulin gene NEB are a common cause of nemaline myopathy. 30356055 2018
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Mutations in the nebulin gene (NEB) are the main cause of recessively inherited NM. 23010307 2013
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation disease CLINVAR Distal myopathy caused by homozygous missense mutations in the nebulin gene. 17525139 2007
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Fifty percent of nemaline myopathy forms are due to NEB mutations, but genetic analysis of this large and complex gene by Sanger sequencing is time consuming and expensive. 27105866 2016
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Nemaline myopathy due to NEB mutation(s) leads to FADS/AMC. 27933661 2017
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation disease CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Nemaline myopathy (NEM) is a congenital neuromuscular disorder primarily caused by nebulin gene (NEB) mutations. 31721788 2019
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE We describe a novel, recessively inherited distal myopathy caused by homozygous missense mutations in the nebulin gene (NEB), in which other combinations of mutations are known to cause nemaline (rod) myopathy (NM). 17525139 2007
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 Biomarker disease BEFREE Furthermore, a striking similarity between the contractile and structural phenotypes of nebulin-deficient mouse muscle and human NM-NEB muscle was observed, indicating that the nebulin knockout model is well suited for elucidating the functional basis of muscle weakness in NM and for the development of treatment strategies. 19346529 2009
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. 23572184 2013
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447 2004
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 AlteredExpression disease BEFREE We have examined the immunocytochemical expression of nebulin in skeletal muscle in 11 cases of nemaline myopathy, from ten families, with linkage compatible to chromosome 2q.22, the locus for nebulin. 11257470 2001
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 Biomarker disease BEFREE Loss of sarcomere thin filament proteins is a frequent cause of NM; therefore, our data that KLHL40 stabilizes NEB and LMOD3 provide a potential basis for the development of NM in KLHL40-deficient patients. 24960163 2014
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 Biomarker disease GENOMICS_ENGLAND Here we describe the identification of mutations in the nebulin gene in seven offspring of five families affected by the severe congenital form of nemaline myopathy. 12207937 2002
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Further known disorders caused by nebulin mutations are several other subcategories of recessively inherited nemaline myopathy and a novel distal myopathy caused byhomozygous missense mutations in the nebulin gene. 19181091 2008
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Mutations in the nebulin gene in a child with nemaline (rod) myopathy. 22941215 2013
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE The 2 most common causes of nemaline myopathy are recessive mutations in nebulin and de novo dominant mutations in skeletal muscle α-actin. 22172418 2011
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 Biomarker disease BEFREE Mutations in the gene encoding nebulin (NEB) are known to cause several types of congenital myopathy including recessive nemaline myopathy and distal nebulin myopathy. 26562614 2016