Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4747
Gene name Gene Name - the full gene name approved by the HGNC.	Neurofilament light chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NEFL
Synonyms (NCBI Gene) Gene synonyms aliases	CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL, PPP1R110
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8p21.2
Summary Summary of gene provided in NCBI Entrez Gene.	Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport

Show/Hide all(15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs3832558	CTC>-	Pathogenic, benign	Inframe deletion, coding sequence variant
rs28928910	G>A,T	Not-provided, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs58640772	->TCCACGTAGCGCC	Not-provided, uncertain-significance, pathogenic	Coding sequence variant, frameshift variant
rs58982919	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs59101996	G>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs60261494	GG>CT	Not-provided, pathogenic	Coding sequence variant, missense variant
rs61491953	G>A,C,T	Not-provided, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs62636505	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs62636522	G>A,C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs121913663	C>A,T	Uncertain-significance, not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs199422214	C>A,G	Pathogenic	Stop gained, missense variant, coding sequence variant
rs267607538	G>C,T	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs377121179	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs876661155	C>A,G	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1057517776	A>C,G	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant

Show/Hide all(87)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028294	hsa-miR-32-5p	Sequencing	20371350
MIRT1179970	hsa-miR-105	CLIP-seq
MIRT1179971	hsa-miR-1252	CLIP-seq
MIRT1179972	hsa-miR-1266	CLIP-seq
MIRT1179973	hsa-miR-137	CLIP-seq
MIRT1179974	hsa-miR-140-3p	CLIP-seq
MIRT1179975	hsa-miR-2467-3p	CLIP-seq
MIRT1179976	hsa-miR-25	CLIP-seq
MIRT1179977	hsa-miR-30a	CLIP-seq
MIRT1179978	hsa-miR-30b	CLIP-seq
MIRT1179979	hsa-miR-30c	CLIP-seq
MIRT1179980	hsa-miR-30d	CLIP-seq
MIRT1179981	hsa-miR-30e	CLIP-seq
MIRT1179982	hsa-miR-3120-3p	CLIP-seq
MIRT1179983	hsa-miR-32	CLIP-seq
MIRT1179984	hsa-miR-330-3p	CLIP-seq
MIRT1179985	hsa-miR-3613-3p	CLIP-seq
MIRT1179986	hsa-miR-363	CLIP-seq
MIRT1179987	hsa-miR-367	CLIP-seq
MIRT1179988	hsa-miR-3678-3p	CLIP-seq
MIRT1179989	hsa-miR-3692	CLIP-seq
MIRT1179990	hsa-miR-3908	CLIP-seq
MIRT1179991	hsa-miR-4427	CLIP-seq
MIRT1179992	hsa-miR-4518	CLIP-seq
MIRT1179993	hsa-miR-4680-3p	CLIP-seq
MIRT1179994	hsa-miR-510	CLIP-seq
MIRT1179995	hsa-miR-545	CLIP-seq
MIRT1179996	hsa-miR-548p	CLIP-seq
MIRT1179997	hsa-miR-582-3p	CLIP-seq
MIRT1179998	hsa-miR-802	CLIP-seq
MIRT1179999	hsa-miR-92a	CLIP-seq
MIRT1180000	hsa-miR-92b	CLIP-seq
MIRT2052042	hsa-miR-4305	CLIP-seq
MIRT2052043	hsa-miR-4457	CLIP-seq
MIRT2052044	hsa-miR-513b	CLIP-seq
MIRT2281413	hsa-miR-185	CLIP-seq
MIRT2281414	hsa-miR-203	CLIP-seq
MIRT2281415	hsa-miR-2113	CLIP-seq
MIRT2281416	hsa-miR-3150a-3p	CLIP-seq
MIRT2281417	hsa-miR-3151	CLIP-seq
MIRT2281418	hsa-miR-3175	CLIP-seq
MIRT2281419	hsa-miR-4265	CLIP-seq
MIRT2281420	hsa-miR-4282	CLIP-seq
MIRT2281421	hsa-miR-4296	CLIP-seq
MIRT2281422	hsa-miR-4306	CLIP-seq
MIRT2281423	hsa-miR-4322	CLIP-seq
MIRT2281424	hsa-miR-4447	CLIP-seq
MIRT2281425	hsa-miR-4472	CLIP-seq
MIRT2281426	hsa-miR-4644	CLIP-seq
MIRT2281427	hsa-miR-491-5p	CLIP-seq
MIRT2281428	hsa-miR-939	CLIP-seq
MIRT1179970	hsa-miR-105	CLIP-seq
MIRT1179989	hsa-miR-3692	CLIP-seq
MIRT2455046	hsa-miR-4696	CLIP-seq
MIRT1179970	hsa-miR-105	CLIP-seq
MIRT1179989	hsa-miR-3692	CLIP-seq
MIRT2455046	hsa-miR-4696	CLIP-seq
MIRT2579585	hsa-miR-103b	CLIP-seq
MIRT2579586	hsa-miR-1276	CLIP-seq
MIRT2579587	hsa-miR-224	CLIP-seq
MIRT2579588	hsa-miR-23a	CLIP-seq
MIRT2579589	hsa-miR-23b	CLIP-seq
MIRT2579590	hsa-miR-23c	CLIP-seq
MIRT2579591	hsa-miR-3125	CLIP-seq
MIRT2579592	hsa-miR-3664-5p	CLIP-seq
MIRT2579593	hsa-miR-376a	CLIP-seq
MIRT2579594	hsa-miR-376b	CLIP-seq
MIRT2579595	hsa-miR-376c	CLIP-seq
MIRT2579596	hsa-miR-3916	CLIP-seq
MIRT2579597	hsa-miR-4311	CLIP-seq
MIRT2579598	hsa-miR-4330	CLIP-seq
MIRT2579599	hsa-miR-4714-3p	CLIP-seq
MIRT2579600	hsa-miR-4714-5p	CLIP-seq
MIRT2579601	hsa-miR-4760-3p	CLIP-seq
MIRT2579602	hsa-miR-4789-5p	CLIP-seq
MIRT2579603	hsa-miR-583	CLIP-seq
MIRT2579585	hsa-miR-103b	CLIP-seq
MIRT2579586	hsa-miR-1276	CLIP-seq
MIRT2579591	hsa-miR-3125	CLIP-seq
MIRT2579592	hsa-miR-3664-5p	CLIP-seq
MIRT2579593	hsa-miR-376a	CLIP-seq
MIRT2579594	hsa-miR-376b	CLIP-seq
MIRT2579596	hsa-miR-3916	CLIP-seq
MIRT2579597	hsa-miR-4311	CLIP-seq
MIRT2579600	hsa-miR-4714-5p	CLIP-seq
MIRT2579601	hsa-miR-4760-3p	CLIP-seq
MIRT2579603	hsa-miR-583	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
FOS	Activation	8180132
JUN	Activation	8180132

Show/Hide all(69)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IDA	12432080
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	12226091, 12837694, 15383276, 21044950, 22458338, 24722188, 25416956, 26871637, 27107012, 27173435, 28514442, 32296183, 32814053, 33961781, 35271311, 35512704
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0005883	Component	Neurofilament	IDA	15857389
GO:0005883	Component	Neurofilament	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0008089	Process	Anterograde axonal transport	IMP	15857389
GO:0008090	Process	Retrograde axonal transport	IMP	15857389
GO:0009636	Process	Response to toxic substance	IEA
GO:0014012	Process	Peripheral nervous system axon regeneration	IEA
GO:0015631	Function	Tubulin binding	IDA	26016807
GO:0019896	Process	Axonal transport of mitochondrion	IMP	15857389
GO:0019904	Function	Protein domain specific binding	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IDA	14662745
GO:0030424	Component	Axon	IEA
GO:0030426	Component	Growth cone	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	ISS
GO:0031133	Process	Regulation of axon diameter	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0033693	Process	Neurofilament bundle assembly	IBA
GO:0033693	Process	Neurofilament bundle assembly	IDA	12432080
GO:0033693	Process	Neurofilament bundle assembly	IEA
GO:0033693	Process	Neurofilament bundle assembly	IMP	15857389
GO:0040011	Process	Locomotion	IEA
GO:0042802	Function	Identical protein binding	IPI	12432080
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043274	Function	Phospholipase binding	IEA
GO:0043434	Process	Response to peptide hormone	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045105	Process	Intermediate filament polymerization or depolymerization	IEA
GO:0045109	Process	Intermediate filament organization	IEA
GO:0045109	Process	Intermediate filament organization	IMP	12432080, 17052987
GO:0045110	Process	Intermediate filament bundle assembly	IEA
GO:0045111	Component	Intermediate filament cytoskeleton	IEA
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0051258	Process	Protein polymerization	IEA
GO:0051412	Process	Response to corticosterone	IEA
GO:0060052	Process	Neurofilament cytoskeleton organization	IEA
GO:0090128	Process	Regulation of synapse maturation	IEA
GO:0097049	Process	Motor neuron apoptotic process	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098981	Component	Cholinergic synapse	IEA
GO:0099160	Component	Postsynaptic intermediate filament cytoskeleton	IBA
GO:0099160	Component	Postsynaptic intermediate filament cytoskeleton	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:0099182	Component	Presynaptic intermediate filament cytoskeleton	IEA
GO:0099184	Function	Structural constituent of postsynaptic intermediate filament cytoskeleton	IBA
GO:0099184	Function	Structural constituent of postsynaptic intermediate filament cytoskeleton	IEA
GO:0099185	Process	Postsynaptic intermediate filament cytoskeleton organization	IEA
GO:1903935	Process	Response to sodium arsenite	IEA
GO:1903937	Process	Response to acrylamide	IEA
GO:1904115	Component	Axon cytoplasm	IEA
GO:2000672	Process	Negative regulation of motor neuron apoptotic process	IEA

MIM	HGNC	e!Ensembl
162280	7739	ENSG00000277586

Protein

UniProt ID

P07196

Protein name

Neurofilament light polypeptide (NF-L) (68 kDa neurofilament protein) (Neurofilament triplet L protein)

Protein function

Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04732	Filament_head	9 → 88	Intermediate filament head (DNA binding) region	Family
PF00038	Filament	89 → 399	Intermediate filament protein	Coiled-coil

Sequence

MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSS
SGSLMPSLENLDLSQVAAISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEA
ELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQALQGEREGLEETLRNLQARYEE
EVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY
AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRA
AKDEVSESRRLLKAKTLEIEACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRT
TKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSSQVFG
RSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE
KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAK
KKD

Sequence length

543

Interactions

View interactions

	KEGG		Reactome
	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases		Unblocking of NMDA receptors, glutamate binding and activation RAF/MAP kinase cascade

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Charcot-Marie-Tooth Disease	charcot-marie-tooth disease type 1f, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth Disease, charcot-marie-tooth disease type 1c	rs58982919, rs61491953, rs757417962, rs58332872, rs1586128143, rs59443585, rs587777880, rs766951637, rs28928910, rs62636503, rs191346286, rs60261494, rs879253927, rs62636505, rs876661155 View all (3 more)	N/A
Charcot-Marie-Tooth disease	charcot-marie-tooth disease, dominant intermediate g	rs58982919, rs62636503	N/A
Peripheral Neuropathy	peripheral neuropathy	rs1586128169, rs62636502	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Distal Hereditary Motor Neuronopathy	Neuronopathy, distal hereditary motor, autosomal dominant	N/A	N/A	ClinVar
Distal Spinal Muscular Atrophy	distal spinal muscular atrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (136)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
3 Hydroxyacyl CoA Dehydrogenase Deficiency	Stimulate	25776526
Acute Coronary Syndrome	Associate	39824235
Adenomatous Polyposis Coli	Associate	38348665
Adrenoleukodystrophy	Associate	35269535
AIDS Associated Nephropathy	Associate	32681213
AIDS Dementia Complex	Associate	25776526
Alcoholism	Associate	37314537
Alzheimer Disease	Associate	19888461, 29070659, 29558979, 29631614, 29747637, 30390718, 30786919, 30902060, 31779670, 32304290, 32470423, 33055205, 33183357, 33512503, 33527648 View all (20 more)
Alzheimer Disease	Stimulate	21983493, 29391125, 30664784, 33883011
Amyloidosis	Associate	38182630
Amyloidosis Hereditary Transthyretin Related	Associate	38348665
Amyotrophic Lateral Sclerosis	Associate	12730211, 23705811, 25934855, 28264096, 34349004, 35585374, 37184603, 39241471, 39270623
Amyotrophic Lateral Sclerosis	Inhibit	24454911, 30029677
Amyotrophic Lateral Sclerosis	Stimulate	30014505, 34764380
Amyotrophic lateral sclerosis 1	Associate	23705811
Amyotrophic lateral sclerosis 1	Stimulate	30215603
Anxiety	Associate	37314537
Aphasia Primary Progressive	Associate	29514947, 36707904
Ataxia	Associate	28501821, 35044100
Ataxia Telangiectasia	Associate	33878608
Atrophy	Associate	24242746, 27581216, 29070659, 29367444, 33172960, 33827960, 35584575, 36192766
Auditory neuropathy	Associate	18023247
Autism Spectrum Disorder	Stimulate	36769380
Basal Ganglia Diseases	Associate	21983493, 29631614, 32470423, 35167933, 37315450, 39337499
Brain Diseases	Associate	33658322, 37924152
Brain Injuries	Associate	36655331
Breast Neoplasms	Associate	22319610, 25985363
Camurati Engelmann Syndrome	Stimulate	33883011
Carcinoma Large Cell	Associate	29558979
Carcinoma Merkel Cell	Associate	8120418
Cardiovascular Diseases	Stimulate	37079385
Cardiovascular Diseases	Associate	37828521
Cerebellar Diseases	Associate	28501821, 32979786
Cerebral Palsy	Associate	30664784
Charcot Marie Tooth Disease	Associate	18023247, 25264603, 26556829, 28501821, 29321234, 31211173, 31788662, 32979786, 35044100, 35938991, 36031490, 37606798, 37848414, 37927275
Charcot Marie Tooth disease Type 1F	Associate	35044100
Charcot Marie Tooth disease Type 2B	Associate	31788662, 37133535
Charcot Marie Tooth disease Type 2E	Associate	26109717, 35044100
Charcot Marie Tooth disease Type 4A	Associate	30257968
Coffin Siris syndrome	Associate	39824235
Cognition Disorders	Stimulate	25776526
Cognition Disorders	Associate	29391125, 30419087, 32470423, 32681213, 33204362, 39594668, 39978165
Cognitive Dysfunction	Associate	30419087, 39270623
Corticobasal Degeneration	Stimulate	29514947
Creutzfeldt Jakob Disease Sporadic	Associate	27929120
Creutzfeldt Jakob Disease Sporadic	Stimulate	29391125
Creutzfeldt Jakob Syndrome	Stimulate	27929120, 33674752
Creutzfeldt Jakob Syndrome	Associate	33883011
Dementia	Associate	29070659, 29631614, 33032662, 34913545, 35044100, 37175824
Dementia Vascular	Stimulate	29391125, 33204362, 33883011
Demyelinating Diseases	Associate	33658322, 35044100
Depressive Disorder	Associate	37314537, 37951931
Diabetic Neuropathies	Associate	36472640
Diffuse Cerebral Sclerosis of Schilder	Associate	33172960
Down Syndrome	Associate	29631614, 30902060, 32192521
Ependymoma	Associate	19793339
Facial Nerve Diseases	Associate	18023247, 36472640
Frailty	Stimulate	40399764
Frontotemporal Dementia	Stimulate	23718879, 29391125, 33883011
Frontotemporal Dementia	Associate	24242746, 27581216, 28264096, 29514947, 31701893, 33108404, 33452053, 33626531, 34349004, 34743360, 35492244, 35988220, 36138153, 36799407, 37491327 View all (4 more)
Frontotemporal Lobar Degeneration	Associate	24242746, 29559004, 31595378, 33827960, 36374516
Giant Axonal Neuropathy	Associate	25398950
Glioblastoma	Associate	17233837, 25605243, 30463513
Glioma	Associate	25605243, 26879754, 8456947
Head and Neck Neoplasms	Associate	22246235
Hearing Disorders	Associate	18023247
Hearing Loss	Associate	28501821, 29293505, 34360009
Hereditary Sensory and Motor Neuropathy	Associate	31788662
Heredodegenerative Disorders Nervous System	Associate	39337499
HIV Infections	Associate	25776526
Huntington Disease	Associate	28241046, 29367444, 32181593, 32470422, 33328328, 33636389, 37315450, 40256911
Huntington Disease	Stimulate	35437792
Inflammation	Associate	11483667, 33658322
Inherited Peripheral Neuropathy	Associate	29321234
Insomnia Fatal Familial	Associate	30048013
Leprosy	Associate	22510739
Leukoencephalopathies	Associate	21983493, 29367444, 32522711, 35167933, 38365046
Leukoencephalopathies	Stimulate	33108404
Lewy Body Disease	Stimulate	33883011
Liver Neoplasms	Associate	31432691
Lymphatic Metastasis	Inhibit	22319610
Mandibular Nerve Injuries	Associate	25835709
Medulloblastoma	Associate	2478022
MELAS Syndrome	Stimulate	33479417
Memory Disorders	Associate	33183357
Mental Disorders	Associate	23272063, 31595378, 34349004, 39577322
Microphthalmia Syndromic 10	Associate	28601473, 29367444, 33328328, 33636389, 34743360, 35584575
Motor Neuron Disease	Associate	25264603, 37133535
Motor Neuron Disease	Stimulate	35988220
Movement Disorders	Associate	37930670
Mucopolysaccharidosis II	Associate	39978165
Multiple Pterygium Syndrome Autosomal Dominant	Associate	30390718
Multiple Sclerosis	Associate	33172960, 33658322, 37903821, 37930670, 39337499
Multiple Sclerosis Chronic Progressive	Associate	25860354
Multiple Sclerosis Relapsing Remitting	Associate	25860354
Muscular Atrophy Spinal	Associate	31123861
Muscular Diseases	Associate	25264603
Myotonia Congenita	Associate	25264603
Neoplasms	Inhibit	22319610
Neoplasms	Associate	25605243, 25985363, 8120418
Nerve Degeneration	Associate	21983493, 23718879, 24704493, 25776526, 27400930, 29367444, 32470423, 32522711, 32552681, 37184603, 39482741
Nerve Degeneration	Stimulate	36655331
Nervous System Diseases	Associate	35044100
Neuralgia	Associate	38521157
Neuroaxonal Dystrophies	Associate	31295725, 33658322, 36472640, 37038190, 37314537, 37930670
Neuroblastoma	Associate	19216736, 21194500, 25312269, 29507419
Neurodegenerative Diseases	Associate	25776526, 29070659, 29096697, 29237796, 29367444, 29631614, 30390718, 30419087, 30664784, 30786919, 31295725, 31595378, 32470423, 32522711, 33108404 View all (13 more)
Neurodegenerative Diseases	Stimulate	29391125
Neurologic Manifestations	Associate	11483667, 25264603, 33479417, 37038190
Neuromuscular Diseases	Associate	25264603
Paraparesis Tropical Spastic	Associate	34764955
Paraplegia	Associate	32979786
Parkinson Disease	Associate	26497684, 35418452, 40715263
Parkinson Disease	Stimulate	29391125, 34285331
Peripheral Nervous System Diseases	Associate	28264096, 29321234, 31788662
Photophobia	Associate	36031490
Poikiloderma with Neutropenia	Associate	38182630, 38348665
Polyneuropathies	Associate	32979786, 36031490
Primary Progressive Nonfluent Aphasia	Associate	27581216
Prion Diseases	Stimulate	29391125, 33674752, 33883011
Seizures	Associate	40591616
Sexual Dysfunction Physiological	Stimulate	24242746
Short Stature Idiopathic X Linked	Associate	37315450
Sleep Wake Disorders	Associate	40229714
Spastic Paraplegia Hereditary	Associate	32979786
Spastic Paraplegia Hereditary	Stimulate	33819388
Spinal Cord Diseases	Associate	33172960
Spinocerebellar Ataxias	Stimulate	33636389
Stroke	Associate	33479417, 39824235
Stuttering	Associate	31669185
Synovial Cyst	Associate	38336278
Tang Hsi Ryu syndrome	Associate	34959133
Thinness	Associate	35584575
Urinary Bladder Neurogenic	Associate	25264603
Vertigo	Associate	33183357
White Coat Hypertension	Associate	25860354

NEFL (neurofilament light chain)