NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1197561990
rs1197561990
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 27933661 2017
dbSNP: rs1197561990
rs1197561990
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
dbSNP: rs1197561990
rs1197561990
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. 21724397 2011
dbSNP: rs1197561990
rs1197561990
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Core-rod myopathy caused by mutations in the nebulin gene. 19805734 2009
dbSNP: rs1197561990
rs1197561990
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Distal myopathy caused by homozygous missense mutations in the nebulin gene. 17525139 2007
dbSNP: rs1197561990
rs1197561990
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880 2006
dbSNP: rs1197561990
rs1197561990
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447 2004
dbSNP: rs1197561990
rs1197561990
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. 15266303 2004
dbSNP: rs1197561990
rs1197561990
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 15336686 2004
dbSNP: rs1197561990
rs1197561990
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Mutations in the nebulin gene can cause severe congenital nemaline myopathy. 12207937 2002
dbSNP: rs1197561990
rs1197561990
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 10051637 1999
dbSNP: rs1197561990
rs1197561990
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2. 2838409 1988