Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation CLINVAR Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. 26809617

2016
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation CLINVAR New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. 26841830

2016
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation CLINVAR A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. 26197980

2016
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation CLINVAR Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. 24056153

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation CLINVAR Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. 26019235

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation CLINVAR Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. 25110572

2014
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation CLINVAR The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. 19232495

2009
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation CLINVAR Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 18330676

2008
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation CLINVAR Distal myopathy caused by homozygous missense mutations in the nebulin gene. 17525139

2007
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation 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
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation 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
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation CLINVAR Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 15336686

2004
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation CLINVAR Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 15336686

2004
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 GeneticVariation CLINVAR Nebulin mutations in autosomal recessive nemaline myopathy: an update. 12207938

2002
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 CausalMutation CLINVAR Nebulin mutations in autosomal recessive nemaline myopathy: an update. 12207938

2002