NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Nemaline Myopathy 2 ×
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 Biomarker disease CTD_human
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation disease CLINVAR "Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related ""core-rod"" congenital myopathy." 26403434 2015
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation disease CLINVAR "Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related ""core-rod"" congenital myopathy." 26403434 2015
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation disease CLINVAR A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. 26197980 2016
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation disease CLINVAR Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 28132693 2017
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 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 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 Core-rod myopathy caused by mutations in the nebulin gene. 19805734 2009
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 Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. 26809617 2016
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 Biomarker disease CLINGEN Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. 25949787 2015
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation disease 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
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 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 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 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 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 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 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 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 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 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 Biomarker disease GENOMICS_ENGLAND Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 27933661 2017