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: rs555445835
rs555445835
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C0206157
Disease:
Myopathies, Nemaline 		C 0.700 CausalMutation CLINVAR Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. 24056153 2015