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: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
0.010 Biomarker disease BEFREE Mutations in the protein responsible for X-linked myotubular myopathy (myotubularin, MTM1) also induced NFL abnormalities in these cells. 17973976 2008
CUI: C0043020
Disease: Wallerian Degeneration
Wallerian Degeneration
0.200 Biomarker phenotype RGD Selective solubilization of high-molecular-mass neurofilament subunit during nerve regeneration. 10646539 2000
CUI: C0231712
Disease: Waddling gait
Waddling gait
0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
0.100 Biomarker phenotype HPO
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
0.310 AlteredExpression disease BEFREE Treatment resistance in major depression is correlated with increased plasma levels of neurofilament light protein reflecting axonal damage. 31088642 2019
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
0.310 Biomarker disease PSYGENET We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed. 16023328 2005
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
0.310 Biomarker disease PSYGENET In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression. 15054476 2004
CUI: C4025799
Disease: Ulnar claw
Ulnar claw
0.100 Biomarker disease HPO
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.040 Biomarker phenotype BEFREE The results show that the expression of NEFL induces cancer cell apoptosis and inhibits invasion in these cell lines, suggesting that NEFL may play a role in cancer cell apoptosis and invasion. 23992471 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.040 AlteredExpression phenotype BEFREE In addition, NEFL-siRNA could significantly attenuate the inhibitory effects of knockdown miR-183 on the proliferation and invasion of U251 cells via mTOR signaling pathway. 26879754 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.040 AlteredExpression phenotype BEFREE In addition, via the mTOR signaling pathway, NEFL-siRNA could significantly attenuate the inhibitory effects of knockdown miR-25 on the proliferation and invasion of U251 cells. 26209061 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.040 Biomarker phenotype BEFREE Our studies suggest that NEFL methylation is a novel mechanism for NSCLC invasion and metastasis and that NEFL may represent a candidate biomarker for recurrence and survival in patients with NSCLC. 26801564 2016
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack
0.200 Biomarker disease RGD Effects of brain ischemia on intermediate filaments of rat hippocampus. 8726968 1996
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.010 Biomarker group BEFREE Using Western Blot and ELISA we characterized NF-L and disease-related proteins in brain, CSF and plasma samples from Tg4510 mice (tauopathy/AD), MitoPark mice (PD), and their age-matched control littermates. 28461218 2017
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
0.100 Biomarker disease HPO
CUI: C0206725
Disease: Subependymal Glioma
Subependymal Glioma
0.010 Biomarker disease BEFREE Immunoreactivity for HOXB13, NEFL and PDGFR alpha was strongest in MEPN and virtually absent in subependymoma. 19793339 2010
CUI: C0393561
Disease: Subcortical Vascular Dementia
Subcortical Vascular Dementia
0.010 Biomarker disease BEFREE The aim of the study was to assess whether baseline CSF hyperphosphorylated tau (P-tau), total tau (T-tau), amyloid beta 1-42 (Abeta(42)) and neurofilament light (NF-L) in patients with MCI could predict subcortical vascular dementia (SVD) and Alzheimer's disease (AD) at follow-up. 19864909 2009
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage
0.020 Biomarker disease BEFREE Seizures, CSF neurofilament light and tau in patients with subarachnoid haemorrhage. 29164612 2018
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage
0.020 Biomarker disease BEFREE Plasma Neurofilament Light Chain Is Associated with Poor Functional Outcome and Mortality Rate After Spontaneous Subarachnoid Hemorrhage. 31808039 2019
Squamous cell carcinoma of the head and neck
0.010 Biomarker disease BEFREE The role of NEFL in cell growth and invasion in head and neck squamous cell carcinoma cell lines. 23992471 2014
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
0.030 Biomarker disease BEFREE Neurofilament light chain in serum of adolescent and adult SMA patients under treatment with nusinersen. 31552549 2020
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
0.030 Biomarker disease BEFREE NfL, protein and quotients of albumin (Q<sub>alb</sub>) increased slightly in SMA patients after the fourth injection. 31205491 2019
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
0.030 AlteredExpression disease BEFREE Baseline levels of NFL (4598 ± 981 vs 148 ± 39, P = 0.001), tau (939 ± 159 vs 404 ± 86, P = 0.02), and GFAP (236 ± 44 vs 108 ± 26, P = 0.02) were significantly higher in SMA children than controls. 31123861 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
0.010 Biomarker disease BEFREE Serum neurofilament light chain is increased in hereditary spastic paraplegias. 30009206 2018
Snowflake vitreoretinal degeneration
0.010 Biomarker disease BEFREE A combination of the biomarkers Abeta(42), T-tau, P-tau(181) and NF-L has the potential to improve the clinical separation of MCI-SVD patients from stable MCI and MCI-AD patients. 19864909 2009