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 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 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 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 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 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 GeneticVariation disease BEFREE Here we report a childhood-onset case with distal weakness and a core-rod myopathy, associated with recessive NEB mutations identified by next generation sequencing (NGS). 23443021 2013
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE 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 Nemaline myopathy (NM) is the most common congenital myopathy and is caused by mutations in various genes including NEB (nebulin), TPM2 (beta-tropomyosin), TPM3 (gamma-tropomyosin), and ACTA1 (skeletal alpha-actin). 22358459 2012
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Mutations in three different genes have been identified as the cause of nemaline myopathy: the gene for slow alpha-tropomyosin 3 (TPM3) at 1q22-23, the nebulin gene (NEB) at 2q21.1-q22, and the actin gene (ACTA1) at 1q42. 11257471 2001
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Mutations in several NM causal genes have been attributed to the majority of NM cases, particularly mutations in nebulin and skeletal muscle α‑actin 1 (ACTA1), which are responsible for ~70% of cases; therefore, a genetic diagnostic strategy using targeted gene sequencing may potentially improve the diagnosis of suspected NM. 27357517 2016
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation 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 GeneticVariation disease BEFREE Based on biopsy material, genetic analyses and muscle MRI, we identified two novel, compound-heterozygous variants in the nebulin gene after a 30 year clinical history, which cause a classical childhood type of nemaline myopathy. 25740301 2015
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE Although mutations in the gene encoding nebulin (NEB) are a frequent cause of nemaline myopathy, the most common non-dystrophic congenital myopathy, the mechanisms by which mutations in NEB cause muscle weakness remain largely unknown. 23715096 2013
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE The assays designed here recognize a 2502 base pair deletion in the Nebulin (NEB) gene that results in Nemaline Myopathy, a 308,769 base pair deletion in the Gap Junction Protein, beta 6 (GJB6) gene that causes Hearing Loss, and a 6433 base pair deletion in the Mucolipin 1 (MCOLN1) gene responsible for causing Mucolipidosis IV Disease. 22281206 2012