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 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: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation disease BEFREE We conclude that the nebulin gene resides within the candidate region for NEM2 on the long arm of chromosome 2, while the titin gene is located outside this region. 9359044 1998
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker disease GENOMICS_ENGLAND Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 10051637 1999
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 Biomarker disease CLINGEN Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 10051637 1999
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
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 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 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 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 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 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 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 LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
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 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 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 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 Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. 24056153 2015