NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation disease CLINVAR Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. 24725366 2014
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker disease CLINGEN KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. 24960163 2014
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation disease CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation disease CLINVAR Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. 25110572 2014
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation disease CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation disease CLINVAR Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. 25079567 2014
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation disease CLINVAR Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. 23572184 2013
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker disease MGD Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. 23715096 2013
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation disease CLINVAR Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy. 22367672 2012
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker disease CLINGEN Expression of multiple nebulin isoforms in human skeletal muscle and brain. 22941678 2012
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation disease CLINVAR Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy. 22367672 2012
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation disease CLINVAR Expression of multiple nebulin isoforms in human skeletal muscle and brain. 22941678 2012
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation disease CLINVAR Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. 21724397 2011
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation disease BEFREE Here, we studied the contractile phenotype of skeletal muscle from NM patients with nebulin mutations (NEM2). 19944167 2010
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation disease CLINVAR Core-rod myopathy caused by mutations in the nebulin gene. 19805734 2009
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation disease CLINVAR Distal myopathy caused by homozygous missense mutations in the nebulin gene. 17525139 2007
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation disease CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880 2006
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker disease MGD Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo. 16902413 2006
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation disease CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880 2006
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker disease CLINGEN Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo. 16902413 2006
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker disease CLINGEN Nebulin: the nebulous, multifunctional giant of striated muscle. 12837582 2003
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker disease GENOMICS_ENGLAND Mutations in the nebulin gene can cause severe congenital nemaline myopathy. 12207937 2002
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker disease GENOMICS_ENGLAND Mutations in the nebulin gene can cause severe congenital nemaline myopathy. 12207937 2002
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation disease CLINVAR Nebulin mutations in autosomal recessive nemaline myopathy: an update. 12207938 2002