rs1553555882, NEB;RIF1

N. diseases: 1
Disease: Nemaline Myopathy 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
0.700 CausalMutation CLINVAR "Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related ""core-rod"" congenital myopathy." 26403434 2015
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
0.700 CausalMutation CLINVAR Core-rod myopathy caused by mutations in the nebulin gene. 19805734 2009
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
0.700 CausalMutation CLINVAR Nebulin mutations in autosomal recessive nemaline myopathy: an update. 12207938 2002