rs934111355, NEB;RIF1

N. diseases: 2
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 Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. 26809617 2016
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
0.700 CausalMutation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014