NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Multiple congenital anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 27933661 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 27933661 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. 21724397 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. 21724397 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Core-rod myopathy caused by mutations in the nebulin gene. 19805734 2009
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Core-rod myopathy caused by mutations in the nebulin gene. 19805734 2009
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Distal myopathy caused by homozygous missense mutations in the nebulin gene. 17525139 2007
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Distal myopathy caused by homozygous missense mutations in the nebulin gene. 17525139 2007
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880 2006
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880 2006
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447 2004
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 15336686 2004
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. 15266303 2004
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447 2004
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 15336686 2004
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. 15266303 2004
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Mutations in the nebulin gene can cause severe congenital nemaline myopathy. 12207937 2002
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutations in the nebulin gene can cause severe congenital nemaline myopathy. 12207937 2002
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 10051637 1999
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 10051637 1999
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2. 2838409 1988
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2. 2838409 1988