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: rs191579691
rs191579691
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease:
Myopathies, Nemaline 		A 0.700 CausalMutation CLINVAR A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. 26197980 2016
dbSNP: rs191579691
rs191579691
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease:
Myopathies, Nemaline 		A 0.700 CausalMutation CLINVAR Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. 25110572 2014
dbSNP: rs191579691
rs191579691
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease:
Myopathies, Nemaline 		A 0.700 CausalMutation CLINVAR Distal myopathy caused by homozygous missense mutations in the nebulin gene. 17525139 2007
dbSNP: rs191579691
rs191579691
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease:
Myopathies, Nemaline 		A 0.700 CausalMutation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880 2006