Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker CLINGEN New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy. 30517146

2018
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker CLINGEN New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. 27105866

2016
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker CLINGEN Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. 25949787

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker CLINGEN Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. 26123491

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker CLINGEN KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. 24960163

2014
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker CLINGEN Expression of multiple nebulin isoforms in human skeletal muscle and brain. 22941678

2012
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker CLINGEN Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo. 16902413

2006
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker CLINGEN Nebulin: the nebulous, multifunctional giant of striated muscle. 12837582

2003
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker CLINGEN Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 10051637

1999