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: C0728829
Disease: Congenital pes cavus
Congenital pes cavus
0.100 GeneticVariation disease CLINVAR
Hereditary Motor and Sensory Neuropathy Type I
0.100 CausalMutation disease CLINVAR
CUI: C0878575
Disease: Peripheral demyelination
Peripheral demyelination
0.100 CausalMutation phenotype CLINVAR
CUI: C1136179
Disease: Hammer Toe
Hammer Toe
0.100 Biomarker phenotype HPO
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness
0.100 GeneticVariation phenotype CLINVAR
Segmental peripheral demyelination/remyelination
0.100 Biomarker phenotype HPO
CUI: C1843168
Disease: Myelin outfoldings
Myelin outfoldings
0.100 Biomarker phenotype HPO
CUI: C1843169
Disease: Clusters of axonal regeneration
Clusters of axonal regeneration
0.100 Biomarker phenotype HPO
Hypotrophy of the small hand muscles
0.100 Biomarker disease HPO
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
0.100 Biomarker phenotype HPO
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation
0.100 Biomarker phenotype HPO
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
0.100 Biomarker disease HPO
Charcot-Marie-Tooth disease, Type 2B1
0.100 CausalMutation disease CLINVAR
CUI: C1854301
Disease: Motor delay
Motor delay
0.100 Biomarker phenotype HPO
CUI: C1854494
Disease: Slow progression
Slow progression
0.100 Biomarker phenotype HPO
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity
0.100 CausalMutation phenotype CLINVAR
Decreased number of peripheral myelinated nerve fibers
0.100 Biomarker phenotype HPO
Decreased motor nerve conduction velocity
0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
0.100 Biomarker phenotype HPO
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness
0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
0.100 Biomarker phenotype HPO
CUI: C4025799
Disease: Ulnar claw
Ulnar claw
0.100 Biomarker disease HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
0.100 Biomarker phenotype HPO
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE <b>Background:</b> Neurofilament light chain (NfL) is a highly promising biomarker of neuroaxonal injury that has mainly been studied in adult neurodegenerative disease. 30524361 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 Biomarker disease BEFREE <b>Background:</b> Neurofilament light chain protein (NFL) and chitinase3-like1 (CHI3L1) have gained importance recently as prognostic biomarkers in multiple sclerosis (MS). 31608004 2019