rs878854368, NEB

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 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
0.700 CausalMutation CLINVAR Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. 26578207 2015
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
0.700 CausalMutation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880 2006