Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 27933661

2017
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. 21724397

2011
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Core-rod myopathy caused by mutations in the nebulin gene. 19805734

2009
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Distal myopathy caused by homozygous missense mutations in the nebulin gene. 17525139

2007
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880

2006
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. 15266303

2004
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447

2004
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 15336686

2004
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutations in the nebulin gene can cause severe congenital nemaline myopathy. 12207937

2002
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 10051637

1999
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2. 2838409

1988