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: rs769345284
rs769345284
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease:
Myopathies, Nemaline 		A 0.700 CausalMutation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
dbSNP: rs769345284
rs769345284
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease:
Myopathies, Nemaline 		A 0.700 CausalMutation CLINVAR Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 18330676 2008