NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Myopathies, Nemaline ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760200697
rs760200697
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C0206157
Disease:
Myopathies, Nemaline 		C 0.700 CausalMutation 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
dbSNP: rs760200697
rs760200697
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C0206157
Disease:
Myopathies, Nemaline 		C 0.700 CausalMutation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880 2006
dbSNP: rs760200697
rs760200697
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C0206157
Disease:
Myopathies, Nemaline 		C 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 15336686 2004
dbSNP: rs760200697
rs760200697
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C0206157
Disease:
Myopathies, Nemaline 		C 0.700 CausalMutation CLINVAR Nebulin mutations in autosomal recessive nemaline myopathy: an update. 12207938 2002