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
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
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
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
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
CUI: C1843228
Disease: Hypotrophy of the small hand muscles
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
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
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
CUI: C1858285
Disease: Decreased number of peripheral myelinated nerve fibers
Decreased number of peripheral myelinated nerve fibers 		0.100 Biomarker phenotype HPO
CUI: C1858729
Disease: Decreased motor nerve conduction velocity
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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 AlteredExpression disease BEFREE The amount of NF68 mRNA was reduced by approximately 50% in pyramidal cells of both the CA1 and CA2 of AD hippocampus (P less than 0.001), and by 15% in the Purkinje cells of AD cerebellum (P less than 0.05) relative to that of the HD individuals. 1850065 1991
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.060 AlteredExpression disease BEFREE The amount of NF68 mRNA was reduced by approximately 50% in pyramidal cells of both the CA1 and CA2 of AD hippocampus (P less than 0.001), and by 15% in the Purkinje cells of AD cerebellum (P less than 0.05) relative to that of the HD individuals. 1850065 1991