NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Nemaline Myopathy 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124167
rs398124167
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		T 0.700 CausalMutation CLINVAR Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. 25079567 2014
dbSNP: rs398124167
rs398124167
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		T 0.700 CausalMutation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
dbSNP: rs398124167
rs398124167
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		T 0.700 CausalMutation CLINVAR Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. 23572184 2013