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 Biomarker disease GENOMICS_ENGLAND Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy. 9359044 1998
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 AlteredExpression disease BEFREE Nebulin is normally expressed in nemaline myopathy. 10334479 1999
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 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 Three genes are known to cause nemaline myopathy: the genes for nebulin (NEB) on chromosome 2q22, slow alpha-tropomyosin (TPM3) on chromosome 1q21 and skeletal muscle alpha-actin (ACTA1) on chromosome 1q42. 11166164 2001
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 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 Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy. 11994971 2002
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE We report mutational analysis of the last 42 exons of the nebulin gene (NEB) in 77 patients with various forms of nemaline myopathy. 12207938 2002
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease CLINVAR Nebulin mutations in autosomal recessive nemaline myopathy: an update. 12207938 2002
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation disease CLINVAR Nebulin mutations in autosomal recessive nemaline myopathy: an update. 12207938 2002
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease LHGDN 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 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 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 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 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 LHGDN We have previously described 18 different mutations in the last 42 exons of the nebulin gene (NEB) in 18 families with NM. 16917880 2006
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease BEFREE We have previously described 18 different mutations in the last 42 exons of the nebulin gene (NEB) in 18 families with NM. 16917880 2006
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation disease CLINVAR We have previously described 18 different mutations in the last 42 exons of the nebulin gene (NEB) in 18 families with NM. 16917880 2006
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation disease CLINVAR We have previously described 18 different mutations in the last 42 exons of the nebulin gene (NEB) in 18 families with NM. 16917880 2006
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 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 No linkage to the five known nemaline myopathy genes (alpha-tropomyosin-3, nebulin, alpha-actin, troponin T1 and beta-tropomyosin), to the ryanodine receptor gene (associated with core-rod myopathy) or to the 15q21-23 locus was found. 17157023 2007
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 CausalMutation disease CLINVAR Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 18330676 2008