NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.010 AlteredExpression disease BEFREE Before treatment in 21 human subjects with CLN2 disease (age range: 1.72-6.85 years), neurofilament light levels were 48-fold higher (P < 0.001) than in 7 pediatric controls (age range: 8-11 years). 31814335 2019