NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline
0.300 Biomarker disease GENOMICS_ENGLAND Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. 25264603 2014