rs191579691, NEB

N. diseases: 2
Disease: Myopathies, Nemaline ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
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
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
0.700 CausalMutation CLINVAR Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. 25110572 2014
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
0.700 CausalMutation CLINVAR Distal myopathy caused by homozygous missense mutations in the nebulin gene. 17525139 2007
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
0.700 CausalMutation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880 2006