NEFL - neurofilament light chain Gene

Also Known as NFL; NF-L; NF68; CMT1F; CMT2E; CMTDIG; PPP1R110

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4747

About NEFL

Cytogenetic location: 8p21.2 Genomic coordinates (GRCh38): 8:24,950,955-24,956,612 (from NCBI)

This gene has 2 transcripts (splice variants), 268 orthologues, 68 paralogues and is associated with 6 phenotypes. Biased expression in brain (RPKM 94.3) and adrenal (RPKM 9.8).

Summary

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 to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]

NEFL Products (1)

mRNA Protein Name
NM_006158.5 NP_006149.2 neurofilament light polypeptide
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
12432080 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12226091 GOA
enables structural constituent of cytoskeleton IDA
IDA: Inferred from direct assay
12432080 GOA
Biological Process GO Annotation Evidence References Source
involved in anterograde axonal transport IMP
IMP: Inferred from mutant phenotype
15857389 GOA
involved in axonal transport of mitochondrion IMP
IMP: Inferred from mutant phenotype
15857389 GOA
involved in intermediate filament organization IMP
IMP: Inferred from mutant phenotype
12432080 GOA
involved in neurofilament bundle assembly IDA
IDA: Inferred from direct assay
12432080 GOA
involved in neurofilament bundle assembly IMP
IMP: Inferred from mutant phenotype
15857389 GOA
involved in retrograde axonal transport IMP
IMP: Inferred from mutant phenotype
15857389 GOA
Cellular Component GO Annotation Evidence References Source
located in axon IDA
IDA: Inferred from direct assay
14662745 GOA
located in neurofilament IDA
IDA: Inferred from direct assay
15857389 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

neurofilament light polypeptide

  • light molecular weight neurofilament protein

NEFL Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NEFL P07196 DES Homo sapiens P17661 26871637
Intra
NEFL P07196 DES Homo sapiens P17661 26871637
Intra
NEFL P07196 DES Homo sapiens P17661 32296183
Intra
NEFL P07196 DES Homo sapiens P17661 26871637
Intra
NEFL P07196 CCDC13 Homo sapiens Q8IYE1 32296183
Intra
NEFL P07196 KLC3 Homo sapiens Q6P597-2 26871637
Intra
NEFL P07196 KLC3 Homo sapiens Q6P597-2 26871637
Intra
NEFL P07196 KLC3 Homo sapiens Q6P597-2 26871637
Intra
NEFL P07196 NEFM Homo sapiens P07197 32296183
Intra
NEFL P07196 NEK6 Homo sapiens Q9HC98-4 32296183
Intra
NEFL P07196 KRT13 Homo sapiens P13646 26871637
Intra
NEFL P07196 KRT13 Homo sapiens P13646 26871637
Intra
NEFL P07196 KRT13 Homo sapiens P13646 26871637
Intra
NEFL P07196 CEP57L1 Homo sapiens Q6P2R3 26871637
Intra
NEFL P07196 CEP57L1 Homo sapiens Q6P2R3 26871637
Intra
NEFL P07196 CEP57L1 Homo sapiens Q6P2R3 26871637
Intra
NEFL P07196 KIFC3 Homo sapiens Q9BVG8-5 26871637
Intra
NEFL P07196 KIFC3 Homo sapiens Q9BVG8-5 26871637
Intra
NEFL P07196 KIFC3 Homo sapiens Q9BVG8-5 26871637
Intra
NEFL P07196 CCDC172 Homo sapiens P0C7W6 26871637
Intra
NEFL P07196 CCDC172 Homo sapiens P0C7W6 26871637
Intra
NEFL P07196 CCDC172 Homo sapiens P0C7W6 26871637
Intra
NEFL P07196 PPP1R18 Homo sapiens Q6NYC8 25416956
Intra
NEFL P07196 GORASP1 Homo sapiens Q9BQQ3 26871637
Intra
NEFL P07196 GORASP1 Homo sapiens Q9BQQ3 26871637
Intra
NEFL P07196 GORASP1 Homo sapiens Q9BQQ3 26871637
Intra
NEFL P07196 SKIL Homo sapiens P12757 26871637
Intra
NEFL P07196 SKIL Homo sapiens P12757 26871637
Intra
NEFL P07196 SKIL Homo sapiens P12757 26871637
Intra
NEFL P07196 KRT18 Homo sapiens P05783 26871637
Intra
NEFL P07196 KRT18 Homo sapiens P05783 26871637
Intra
NEFL P07196 KRT18 Homo sapiens P05783 26871637
Intra
NEFL P07196 PKN1 Homo sapiens Q16512 32296183
Intra
NEFL P07196 GOLGA2 Homo sapiens Q08379 26871637
Intra
NEFL P07196 GOLGA2 Homo sapiens Q08379 26871637
Intra
NEFL P07196 GOLGA2 Homo sapiens Q08379 26871637
Intra
NEFL P07196 TERF1 Homo sapiens P54274 21044950
Intra
NEFL P07196 TERF1 Homo sapiens P54274 21044950
Intra
NEFL P07196 KRT15 Homo sapiens P19012 26871637
Intra
NEFL P07196 KRT15 Homo sapiens P19012 26871637
Intra
NEFL P07196 KRT15 Homo sapiens P19012 26871637
Intra
NEFL P07196 GFAP Homo sapiens P14136 26871637
Intra
NEFL P07196 GFAP Homo sapiens P14136 32296183
Intra
NEFL P07196 GFAP Homo sapiens P14136 26871637
Intra
NEFL P07196 GFAP Homo sapiens P14136 26871637
Intra
NEFL P07196 NME7 Homo sapiens Q9Y5B8 32296183
Intra
NEFL P07196 SMYD1 Homo sapiens Q8NB12 32296183
Cross
NEFL P07196 tax Human T-cell leukemia virus 1 P14079 22458338
Cross
NEFL P07196 tax Human T-cell leukemia virus 1 P14079 22458338
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant NEFL Proteins

Cat. No. Product Name Accession Purity
HY-P72265 Neurofilament light polypeptide/NEFL, Human (His-SUMO, myc) P07196 (S2-D543) ≥ 90%, as determined by reducing SDS-PAGE.

NEFL Antibodies

Cat. No. Product Name Application Reactivity
HY-P81680 NEFL Antibody (YA1425) WB, IHC-P, FC, ELISA Human
HY-P83981 Neurofilament/NF-L Antibody (YA3678) WB, IHC-P, ICC/IF, FC, ELISA Human
HY-P83981A Neurofilament/NF-L Antibody (YA3678)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human
HY-P83982 Neurofilament/NF-L Antibody (YA3679) WB, IHC-P, FC, ELISA Human, Mouse, Rat, Rabbit
HY-P83982A Neurofilament/NF-L Antibody (YA3679)(PBS only) WB, IHC-P, FC, ELISA Human, Mouse, Rat, Rabbit
HY-P85944 Neurofilament/NF-L Antibody (YA5636) IHC-P, WB, ICC/IF, ELISA Human, Mouse, Rat
HY-P86702 Neurofilament/NF-L Antibody (YA6394) WB, IHC-P, IHC-F, IF-Tissue Human, Mouse, Rat

Related Diseases

Diseases Alias
Charcot-Marie-Tooth Disease, Demyelinating, Type 1f
  • Charcot-Marie-Tooth Disease Type 1f

  • CMT1F

  • Charcot-Marie-Tooth Disease, Type 1f

  • Charcot-Marie-Tooth Neuropathy Type 1f

  • Charcot-Marie-Tooth Neuropathy, Type 1f

  • Charcot-Marie-Tooth Disease Type 2b5

  • Ar-Cmt2b5

  • Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5

  • Seoan Due To Nefl Deficiency

  • Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency

  • Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency

  • Charcot-Marie-Tooth Disease 1f

  • Charcot-Marie-Tooth Disease Demyelinating Type 1f

  • Charcot-Marie-Tooth Disease, Type If

Charcot-Marie-Tooth Disease, Dominant Intermediate G
  • CMTDIG

  • Charcot-Marie-Tooth Disease Dominant Intermediate G

  • Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, G

Charcot-Marie-Tooth Disease, Axonal, Type 2e
  • Charcot-Marie-Tooth Disease Type 2

  • CMT2E

  • CMT2S

  • CMT2Y

  • Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease Axonal Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2s

  • Charcot-Marie-Tooth Disease, Type 2e

  • Hereditary Motor And Sensory Neuropathy Type 2

  • Charcot-Marie-Tooth Neuropathy, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2y

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

  • Charcot-Marie-Tooth Neuropathy, Type 2y

  • Charcot-Marie-Tooth Disease, Type 2y

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Neuropathy Type 2e

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

  • Cmt2 Due To Vcp Mutation

  • Charcot-Marie-Tooth Disease Type 2s

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

  • Cmt2

  • Charcot-Marie-Tooth Neuropathy, Type 2e

  • Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

  • Hereditary Motor And Sensory Neuropathy Okinawa Type

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

  • Charcot-Marie-Tooth Neuropathy Type 2y

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

  • Charcot-Marie-Tooth Neuropathy Type 2s

  • Charcot-Marie-Tooth Type 2

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease 2e

  • Charcot-Marie-Tooth Disease Axonal Type 2e

  • Charcot-Marie-Tooth Disease Neuronal Type 2e

  • Charcot-Marie-Tooth Disease 2s

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2s

  • Charcot-Marie-Tooth Disease 2y

  • Charcot-Marie-Tooth Disease, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Tooth Disease
  • Tooth Diseases

  • Teeth Disease

  • Tooth Disorders

Supranuclear Palsy, Progressive, 1
  • Progressive Supranuclear Palsy

  • Steele-Richardson-Olszewski Syndrome

  • Supranuclear Palsy, Progressive

  • Progressive Supranuclear Ophthalmoplegia

  • Psp

  • PSNP1

  • Familial Progressive Supranuclear Palsy

  • Richardson'S Syndrome

  • Psp Syndrome

  • Progressive Supranuclear Palsy 1

  • Supranuclear Palsy Progressive

  • Ophthalmoplegia, Supranuclear, Progressive

  • Steele-Richardson-Olszewksi Syndrome

Vascular Dementia
  • Dementia, Vascular

  • Multi Infarct Dementia

  • Multifocal Dementia

  • Dementia Vascular

  • Vascular Dementia, Susceptibility To

  • Dementia, Multi-Infarct

  • Multi-Infarct Dementia

Lateral Sclerosis
  • Primary Lateral Sclerosis

  • Adult-Onset Primary Lateral Sclerosis

  • Adult-Onset Pls

  • Motor Neuron Disease

  • Pls

  • Pls - [Primary Lateral Sclerosis]

  • Lateral Spinal Sclerosis

  • Lateral Complete Paralysis

  • Lateral Incomplete Paralysis

  • Lateral Paralysis

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

Axonal Neuropathy
Aphasia
Neuromyelitis Optica
  • Devic Disease

  • Devic Syndrome

  • Neuromyelitis Optica Spectrum Disorder

  • Devic'S Disease

  • Devic'S Syndrome

  • Devic'S Neuromyelitis Optica

  • Nmo

  • Nmo Spectrum Disorder

  • Neuromyelitis Optica Spectrum Disorders

  • Devic Neuromyelitis Optica

  • Optic-Spinal Ms

  • Opticospinal Ms

  • Nmosd

  • Opticospinal Multiple Sclerosis

  • Devic

  • Ophthalmoneuromyelitis

  • Optic Neuromyelitis

  • Optic Neuroencephalomyelopathy

  • Nmo - [Neuromyelitis Optica]

  • Optic Neuritis With Demyelination

Charcot-Marie-Tooth Disease And Deafness
  • Charcot-Marie-Tooth Disease Type 1e

  • CMT1E

  • Charcot-Marie-Tooth Disease Type 1

  • Hereditary Motor And Sensory Neuropathy Type 1

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

  • Charcot-Marie-Tooth Disease, Type I

  • Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant

  • Charcot-Marie-Tooth Disease, Type 1e

  • Charcot-Marie-Tooth Disease Demyelinating Type 1e

  • Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease

  • Cmt1

  • Charcot-Marie-Tooth Neuropathy Type 1

  • Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness

  • Charcot-Marie-Tooth Disease-Deafness

  • Charcot-Marie-Tooth Type 1

  • Hmsn1

  • Hereditary Motor And Sensory Neuropathy 1

  • Cmt 1e

  • Charcot Marie Tooth Disease Type 1e

  • Charcot-Marie-Tooth Disease-Deafness Syndrome

  • Charcot-Marie-Tooth Disease-Hearing Loss Syndrome

  • Charcot-Marie-Tooth Disease 1e

  • Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant

  • Charcot-Marie-Tooth Neuropathy Type 1e

  • Charcot-Marie-Tooth Disease, Type Ie

  • Hereditary Motor And Sensory Neuropathy Type I

Subjective Cognitive Decline
Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Communicating Hydrocephalus
  • Acquired Communicating Hydrocephalus

Abcd Syndrome
  • ABCDS

  • Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut, And Deafness

  • Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut And Deafness

Motor Neuron Disease
  • Anterior Horn Cell Disease

  • Motor Neuron Diseases

  • Mnd - [Motor Neurone Disease]

  • Lou Gehrig Disease

  • Creeping Palsy

  • Creeping Paralysis

  • Bulbar Motor Neuron Disease

  • Bulbar Syndrome

  • Anterior Horn Cell Disorder

  • Hereditary Motor Neuron Disease

Charcot-Marie-Tooth Disease, Axonal, Type 2f
  • Charcot-Marie-Tooth Disease Axonal Type 2f

  • CMT2F

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2f

  • Charcot-Marie-Tooth Neuropathy, Type 2f

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f

  • Charcot-Marie-Tooth Neuropathy Type 2f

  • Charcot-Marie-Tooth Neuronal Type 2f

  • Charcot-Marie-Tooth Disease Type 2f

  • Cmt 2f

  • Charcot Marie Tooth Disease Type 2f

  • Charcot-Marie-Tooth Disease 2f

  • Charcot-Marie-Tooth Disease Neuronal Type 2f

  • Charcot-Marie-Tooth Disease, Type 2f

Frontotemporal Dementia
  • Pallidopontonigral Degeneration

  • Frontotemporal Lobar Degeneration

  • Semantic Dementia

  • FTD

  • Frontotemporal Lobe Dementia

  • Multiple System Tauopathy With Presenile Dementia

  • Dementia, Frontotemporal

  • Frontotemporal Dementia With Parkinsonism

  • Mstd

  • Frontotemporal Lobar Degeneration With Tau Inclusions

  • Ftld With Tau Inclusions

  • Dementia, Frontotemporal, With Parkinsonism

  • Fldem

  • Ftdp17

  • Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

  • Ddpac

  • Wilhelmsen-Lynch Disease

  • Wld

  • Ppnd

  • Dementia, Frontotemporal, With Or Without Parkinsonism

  • Semantic Primary Progressive Aphasia

  • Semantic Variant Ppa

  • Wilhemsen-Lynch Disease

  • Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

  • Ftd-Als

  • Ftld

  • Pick Complex

  • Pick Disease Of The Brain

  • Frontotemporal Dementia With Parkinsonism-17

  • Grn-Related Frontotemporal Dementia

  • Frontotemporal Dementia With Motor Neuron Disease

  • Dementia In Fronto-Temporal Lobar Degeneration

  • Ftd - [Frontotemporal Dementia]

  • Temple Dementia

  • Frontal Lobe Dementia

Charcot-Marie-Tooth Disease, Axonal, Type 2l
  • Charcot-Marie-Tooth Disease Axonal Type 2l

  • CMT2L

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l

  • Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2l

  • Charcot-Marie-Tooth Disease 2l

  • Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l

  • Charcot-Marie-Tooth Disease Neuronal Type 2l

  • Charcot-Marie-Tooth Neuropathy Type 2l

  • Charcot-Marie-Tooth Disease, Type 2l

  • Charcot-Marie-Tooth Disease, Type 2i

Charcot-Marie-Tooth Disease, Axonal, Type 2cc
  • Charcot-Marie-Tooth Disease Axonal Type 2cc

  • CMT2CC

  • Charcot-Marie-Tooth Neuropathy, Type 2cc

  • Charcot-Marie-Tooth Neuropathy Type 2cc

  • Charcot-Marie-Tooth Disease 2cc

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

Primary Progressive Multiple Sclerosis
  • Ppms

  • Primary-Progressive Ms

  • Multiple Sclerosis, Primary Progressive

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a
  • Charcot-Marie-Tooth Disease Type 1a

  • CMT1A

  • Charcot-Marie-Tooth Disease, Type Ia

  • Hmsn1a

  • Hereditary Motor And Sensory Neuropathy Ia

  • Hmsn Ia

  • Charcot-Marie-Tooth Neuropathy, Type 1a

  • Charcot-Marie-Tooth Disease, Type 1a

  • Charcot-Marie-Tooth Neuropathy Type 1a

  • Hereditary Motor And Sensory Neuropathy 1a

  • Microduplication 17p12

  • Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a

  • Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a

  • Cmt 1a

  • Charcot Marie Tooth Disease Type 1a

  • Hmsn 1a

  • Charcot-Marie-Tooth Disease 1a

  • Charcot-Marie-Tooth Disease Demyelinating Type 1a

  • Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy

Normal Pressure Hydrocephalus
  • Low Pressure Hydrocephalus

  • Hydrocephalus Normal Pressure

  • Hydrocephalus, Normal Pressure

  • Normal Pressure Hydrocephalus Nos

  • Nph - [Normal Pressure Hydrocephalus]

  • Normal Pressure Hydrocephaly

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Speech And Communication Disorders
  • Language Disorder

  • Communication Disorder

  • Language Disorders

  • Communication Disorders

  • Speech Language Disorder

  • Speech-Language Disorder

  • Communication Impairment

  • Speech And Language Disorder

Asymptomatic Neurosyphilis
  • Neurosyphilis

  • Neurosyphilis, Asymptomatic

Charcot-Marie-Tooth Disease, Axonal, Type 2j
  • CMT2J

  • Charcot-Marie-Tooth Disease, Type 2j

  • Charcot-Marie-Tooth Disease Type 2j

  • Charcot-Marie-Tooth Disease Type 2 With Hearing Loss And Pupillary Abnormalities

  • Charcot-Marie-Tooth Neuropathy Type 2j

  • Charcot-Marie-Tooth Neuropathy, Type 2j

  • Charcot-Marie-Tooth Disease, Type 2, With Hearing Loss And Pupillary Abnormalities

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j

  • Charcot-Marie-Tooth Disease 2j

  • Charcot-Marie-Tooth Disease Axonal Type 2j

  • Charcot-Marie-Tooth Disease Neuronal Type 2j

Tertiary Neurosyphilis
  • Late Neurosyphilis

  • Late Syphilis Of Central Nervous System Nos

Mild Cognitive Impairment
Charcot-Marie-Tooth Disease, Axonal, Type 2i
  • CMT2I

  • Charcot-Marie-Tooth Disease, Type 2i

  • Charcot-Marie-Tooth Disease Type 2i

  • Charcot-Marie-Tooth Neuropathy Type 2i

  • Charcot-Marie-Tooth Neuropathy, Type 2i

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i

  • Charcot-Marie-Tooth Disease 2i

  • Charcot-Marie-Tooth Disease Axonal Type 2i

  • Charcot-Marie-Tooth Disease Neuronal Type 2i

Multiple Sclerosis
  • MS

  • Multiple Sclerosis, Susceptibility To

  • Disseminated Sclerosis

  • Multiple Sclerosis, Disease Progression, Modifier Of

  • Insular Sclerosis

  • Multiple Sclerosis Modifier Of Disease Progression

  • Multiple Sclerosis, Susceptibility To 1

  • Multiple Sclerosis, Susceptibility To, 1

  • Multiple Sclerosis 1

  • Generalized Multiple Sclerosis

  • Multiple Sclerosis Variant

  • Multiple Sclerosis Susceptibility To

  • Cerebrospinal Sclerosis

  • Generalised Multiple Sclerosis

  • Ms - [Multiple Sclerosis]

  • Disseminated Cerebrospinal Sclerosis

  • Disseminated Multiple Sclerosis

  • Disseminated Nervous System Myelosclerosis

  • Multiple Cerebrospinal Sclerosis

  • Multiple Combined Sclerosis

  • Multiple Sclerosis Generalised

  • Disseminated Brain Sclerosis

  • Disseminated Spinal Sclerosis

  • Insular Brain Sclerosis

  • Miliary Brain Sclerosis

  • Multiple Combined Sclerosis Of Spinal Cord

  • Multiple Ascending Sclerosis

  • Multiple Brain Sclerosis

  • Multiple Sclerosis Of Brain Stem

  • Multiple Sclerosis Of The Brain Stem

  • Multiple Sclerosis Of Cord

  • Sclérose En Plaques

  • Plaque Sclerosis

  • Multiple Sclerosis Of The Spinal Cord

Acute Necrotizing Encephalitis
  • Acute Necrotizing Encephalopathy

  • Postinfectious Acute Necrotizing Hemorrhagic Encephalopathy

  • Ane

  • Acute Necrotizing Encephalopathy Type 1

  • Adane

  • Ane1

  • Autosomal Dominant Acute Necrotizing Encephalopathy

  • Iiae3

  • Susceptibility To Acute Necrotizing Encephalopathy

  • Susceptibility To Infection-Induced Acute Encephalopathy

  • Encephalopathy, Acute Necrotizing, Susceptibility To

  • Encephalitis, Acute Necrotizing

Chiasmal Syndrome
  • Chiasma Syndrome

  • Disorder Of Optic Chiasm

  • Optic Chiasm Disorder

  • Chiasmal Optic Disorder

  • Disease Of Optic Chiasm

  • Chiasmal Lesion

  • Intrachiasmal Lesion

  • Prechiasmal Lesion

Akinetic Mutism
  • Coma Vigilans

Plexopathy
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
  • CMTX1

  • Cmtx

  • Charcot-Marie-Tooth Disease X-Linked Dominant 1

  • Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1

  • X-Linked Charcot-Marie-Tooth Disease

  • Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked

  • Cmt1x

  • X-Linked Charcot-Marie-Tooth Disease Type 1

  • X-Linked Hereditary Motor And Sensory Neuropathy

  • Hereditary Motor And Sensory Neuropathy, X-Linked

  • Hmsn, X-Linked

  • Charcot-Marie-Tooth Neuropathy, X-Linked, 1

  • Cmt2, Formerly

  • Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1

  • Charcot-Marie-Tooth Neuropathy X-Linked 1

  • Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked

  • Hereditary Motor And Sensory Neuropathy X-Linked

  • Hmsn X-Linked

  • Charcot-Marie-Tooth, X-Linked

  • Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1

  • Charcot-Marie-Tooth Disease, X-Linked, 1

Leukodystrophy
  • Leukodystrophies

Motor Peripheral Neuropathy
  • Motor Neuritis

  • Peripheral Motor Neuropathy

  • Hereditary Motor And Sensory Neuropathy

  • Hsmn

  • Hsmn - Hereditary Sensory And Motor Neuropathy

  • Neuropathic Muscular Atrophy

  • Hereditary Sensory And Motor Neuropathy

  • Hereditary Motor And Sensory Neuropathies

Secondary Progressive Multiple Sclerosis
  • Secondary-Progressive Ms

  • Spms

  • Multiple Sclerosis, Chronic Progressive

  • Chronic Progressive Multiple Sclerosis

  • Multiple Sclerosis, Secondary Progressive

Charcot-Marie-Tooth Disease, Demyelinating, Type 1d
  • Charcot-Marie-Tooth Disease Type 1d

  • CMT1D

  • Hmsn Id

  • Hmsn1d

  • Charcot-Marie-Tooth Disease, Type 1d

  • Hereditary Motor And Sensory Neuropathy 1d

  • Charcot-Marie-Tooth Neuropathy Type 1d

  • Charcot-Marie-Tooth Neuropathy, Type 1d

  • Charcot-Marie-Tooth Disease 1d

  • Charcot-Marie-Tooth Disease Demyelinating Type 1d

  • Hereditary Motor And Sensory Neuropathy Id

  • Charcot-Marie-Tooth Disease, Type Id

Hereditary Motor And Sensory Neuropathy, Type Iic
  • CMT2C

  • Charcot-Marie-Tooth Disease Axonal Type 2c

  • HMSN2C

  • Hmsn Iic

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c

  • Charcot-Marie-Tooth Neuropathy Type 2c

  • Hereditary Motor And Sensory Neuropathy Type Iic

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c

  • Charcot-Marie-Tooth Neuropathy, Type 2c

  • Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c

  • Charcot-Marie-Tooth Disease 2c

  • Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c

  • Charcot-Marie-Tooth Disease, Type 2c

Dementia
  • Dementias

  • Presenile Dementia

  • Alzheimer Type Dementia

  • Alzheimer Sclerosis

  • Alzheimer Disease Dementia

  • Alzheimer Dementia

  • Primary Degenerative Alzheimer Type Dementia

  • End Stage Alzheimer'S Dementia

  • Alzheimer'S Type Atypical Dementia

  • Alzheimer Type Presenile Dementia

  • Early Onset Alzheimer Dementia

  • Dementia In Alzheimer Disease Type 2

  • Dementia In Alzheimer Disease With Early Onset

  • Early Onset Alzheimer Type Dementia, Uncomplicated

  • Primary Degenerative Alzheimer Type Dementia, Early Onset

  • Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

  • Alzheimer Disease Dementia With Early Onset

  • Presenile Sclerosis

  • Presenile Brain Sclerosis

  • Presenile Alzheimer Brain Sclerosis

  • Late Onset Alzheimer Dementia

  • Dementia In Alzheimer Disease Type 1

  • Dementia In Alzheimer Disease With Late Onset

  • Primary Degenerative Alzheimer Type Dementia, Late Onset

  • Sdat - [Senile Dementia, Alzheimer Type]

  • Alzheimer Disease Dementia With Late Onset

  • Late Onset Alzheimer Brain Sclerosis

  • Senile Alzheimer Brain Disease

  • Senile Alzheimer Brain Sclerosis

  • Senile Primary Degenerative Alzheimer Type Dementia

  • Senile Dementia Of The Alzheimer Type

  • Arteriosclerotic Dementia

  • Strategic-Infarct Dementia

  • Post Stroke Dementia

  • Vascular Cognitive Impairment

  • Vascular Dementia

  • Dementia Of The Lewy Body Type

  • Dementia With Lewy Bodies

  • Sdlt - [Senile Dementia Of The Lewy Body Type]

  • Senile Dementia Of The Lewy Body Type

  • Alcohol-Related Dementia

  • Alcoholic Dementia Nos

  • Alcohol-Induced Dementia

  • Alcoholic Brain Syndrome

  • Chronic Alcoholic Brain Syndrome

  • Alcohol Dementia

  • Late Onset Alcoholic Psychosis

  • Residual And Late-Onset Alcohol-Induced Psychotic Disorder

  • Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

  • Late-Onset Psychoactive Substance-Induced Psychotic Disorder

  • Inhalant Dementia

  • Volatile Solvents Dementia

  • Dementia In Paralysis Agitans

  • Pdd - [Parkinson Disease Dementia]

  • Dementia Syndrome Of Parkinson Disease

  • Dementia In Parkinson Disease

  • Parkinson Related Dementia

  • Dementia In Huntington Chorea

  • Hiv - [Human Immunodeficiency Virus] Dementia

  • Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

  • Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

  • Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

  • Aids Related Dementia

  • Dementia Due To Niacin Deficiency

Charcot-Marie-Tooth Disease, Axonal, Type 2d
  • Charcot-Marie-Tooth Disease Type 2d

  • CMT2D

  • Charcot-Marie-Tooth Disease, Type 2d

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d

  • Charcot-Marie-Tooth Disease Neuronal Type 2d

  • Charcot-Marie-Tooth Neuropathy Type 2d

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2d

  • Charcot-Marie-Tooth Neuropathy, Type 2d

  • Charcot-Marie-Tooth Disease 2d

  • Charcot-Marie-Tooth Disease Axonal Type 2d

Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b
  • Charcot-Marie-Tooth Disease Type 1b

  • CMT1B

  • Hereditary Motor And Sensory Neuropathy Ib

  • Hmsn Ib

  • Hmsn1b

  • Peroneal Muscular Atrophy

  • Charcot-Marie-Tooth Disease, Type 1b

  • Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy

  • Charcot-Marie-Tooth Neuropathy Type 1b

  • Charcot-Marie-Tooth Disease, Type Ib

  • Hereditary Motor And Sensory Neuropathy I

  • Hmsn I

  • Hmsn1

  • Charcot-Marie-Tooth Neuropathy, Type 1b

  • Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy

  • Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b

  • Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b

  • Charcot-Marie-Tooth Disease 1b

  • Charcot-Marie-Tooth Disease Demyelinating Type 1b

  • Hmsn Type I

  • Hereditary Motor And Sensory Neuropathy Type I

  • Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease, Type 4c
  • Charcot-Marie-Tooth Disease Type 4c

  • CMT4C

  • Charcot-Marie-Tooth Neuropathy Type 4c

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c

  • Charcot-Marie-Tooth Neuropathy, Type 4c

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c

  • Charcot-Marie-Tooth Disease 4c

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c

Hypertrophic Neuropathy Of Dejerine-Sottas
  • Dejerine-Sottas Disease

  • Dejerine-Sottas Syndrome

  • Charcot-Marie-Tooth Disease Type 3

  • DSS

  • Hereditary Motor And Sensory Neuropathy Type Iii

  • Hmsn3

  • Dejerine-Sottas Neuropathy

  • Hmsn Iii

  • Charcot-Marie-Tooth Disease, Type 3

  • Cmt3

  • Dsn

  • Hmsn 3

  • Hereditary Motor And Sensory Neuropathy Type 3

  • Hereditary Motor And Sensory Neuropathy 3

  • Hypertrophic Neuropathy Of Infancy

  • Charcot-Marie-Tooth Disease Demyelinating Type 4f

  • Charcot-Marie-Tooth Disease Type 4f

  • Charcot-Marie-Tooth Neuropathy Type 4f

  • Cmt4f

  • Hereditary Motor And Sensory Neuropathy Iii

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Charcot-Marie-Tooth Disease, Axonal, Type 2b
  • Charcot-Marie-Tooth Disease Type 2b

  • CMT2B

  • Hmsn Iib

  • Hmsn2b

  • Charcot-Marie-Tooth Disease, Type 2b

  • Hereditary Motor And Sensory Neuropathy Iib

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b

  • Charcot-Marie-Tooth Neuropathy Type 2b

  • Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b

  • Charcot-Marie-Tooth Neuropathy, Type 2b

  • Hereditary Motor And Sensory Nueropathy Iib

  • Cmt 2b

  • Charcot Marie Tooth Disease Type 2b

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2b

  • Hereditary Motor And Sensory Neuropathy 2 B

  • Peripheral Sensory Neuropathy, Autosomal Dominant

  • Charcot-Marie-Tooth Disease 2b

  • Charcot-Marie-Tooth Disease Axonal Type 2b

  • Charcot-Marie-Tooth Disease Neuronal Type 2b

  • Peripheral Sensory Neuropathy Autosomal Dominant

  • Psn

Progressive Muscular Atrophy
  • Progressive Spinal Muscular Atrophy

  • Pure Progressive Muscular Atrophy

  • Pma

  • Hereditary Spinal Muscle Atrophy

  • Pma - [Progressive Muscular Atrophy]

  • Progressive Muscle Atrophy

  • Progressive Spinal Muscle Atrophy

  • Duchenne-Aran Atrophy

  • Duchenne-Aran Muscle Atrophy

  • Hereditary Sma - [Spinal Muscle Atrophy]

Branch Retinal Artery Occlusion
  • Retinal Artery Occlusion

  • Arterial Retinal Branch Occlusion

  • Retinal Arterial Branch Occlusion

Autoimmune Disease Of Central Nervous System
Acute Disseminated Encephalomyelitis
  • Acute Disseminated Encephalitis

  • Adem

  • Ade

  • Encephalomyelitis Acute Disseminated

  • Encephalomyelitis, Acute Disseminated

  • Adem - [Acute Disseminated Encephalomyelitis]

Critical Illness Polyneuropathy
  • Polyneuropathy, Critical Illness

Dementia, Lewy Body
  • Lewy Body Dementia

  • Lewy Body Disease

  • Diffuse Lewy Body Disease

  • Dementia With Lewy Bodies

  • DLB

  • Autosomal Dominant Diffuse Lewy Body Disease

  • Cortical Lewy Body Disease

  • Dementia, Lewy Body, Susceptibility To

  • Lewy Body Dementia, Susceptibility To

  • Senile Dementia Of The Lewy Body Type

  • Dementia Of The Lewy Body Type

  • Lbd

  • Diffuse Lewy Body Disease With Gaze Palsy

  • Dysphasic Dementia Hereditary

  • Lewy Body Type Senile Dementia

  • Lewy Body Variant Of Alzheimer Disease

  • Lewy Bodies

  • Lewy Body

  • Dlbd - [Diffuse Lewy Body Disease]

  • Clbd - [Cortical Lewy Body Disease]

Arachnoiditis
  • Spinal Arachnoiditis

  • Adhesive Arachnoiditis

  • Chronic Arachnoiditis

  • Familial Spinal Arachnoiditis

  • Arachnitis

  • Arachnoid Inflammation

Neuropathy, Hereditary, With Liability To Pressure Palsies
  • Tomaculous Neuropathy

  • Hereditary Neuropathy With Liability To Pressure Palsies

  • HNPP

  • Polyneuropathy, Familial Recurrent

  • Neuropathy, Recurrent, With Pressure Palsies

  • Current Pressure-Sensitive Neuropathy

  • Familial Recurrent Polyneuropathy

  • Heterozygous Microdeletion 17p11.2p12

  • Potato-Grubbing Palsy

  • Tulip-Bulb Digger'S Palsy

  • Compression Neuropathy

  • Entrapment Neuropathy

  • Familial Pressure Sensitive Neuropathy

  • Hereditary Motor And Sensory Neuropathy

  • Hereditary Pressure Sensitive Neuropathy

  • Inherited Tendency To Pressure Palsies

  • Hereditary Liability To Pressure Palsies

  • Nerve Compression Syndrome

  • Entrapment Neuropathies

  • Hereditary Motor And Sensory Neuropathies

Autoimmune Disease Of Peripheral Nervous System
Demyelinating Polyneuropathy
  • Peripheral Demyelinating Neuropathy

  • Demyelinating Peripheral Neuropathy

Inflammatory And Toxic Neuropathy
Multiple System Atrophy 1
  • Multiple System Atrophy

  • Shy-Drager Syndrome

  • Msa

  • MSA1

  • Multiple System Atrophy 1, Susceptibility To

  • Sporadic Olivopontocerebellar Atrophy

  • Multisystem Atrophy

  • Msa1, Susceptibility To

  • Multiple System Atrophy, Susceptibility To

  • Opca

  • Progressive Autonomic Failure With Multiple System Atrophy

  • Sds

Charcot-Marie-Tooth Disease, Axonal, Type 2b2
  • Charcot-Marie-Tooth Disease Type 2b2

  • CMT2B2

  • Arcmt2b

  • Charcot-Marie-Tooth Disease, Type 2b2

  • Ar-Cmt2b2

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2

  • Autosomal Recessive Axonal Cmt4c3

  • Charcot-Marie-Tooth Disease Neuronal Type 2b2

  • Charcot-Marie-Tooth Neuropathy Type 2b2

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2b2

  • Charcot-Marie-Tooth Neuropathy, Type 2b2

  • Charcot-Marie-Tooth Disease 2b2

  • Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2

  • Charcot-Marie-Tooth Disease Axonal Type 2b2

Cranial Nerve Disease
  • Cranial Nerve Disorder

  • Disorder Of Cranial Nerve

  • Cranial Nerve Diseases

Charcot-Marie-Tooth Disease, Type 4b2
  • Charcot-Marie-Tooth Disease Type 4b2

  • CMT4B2

  • Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2

  • Charcot-Marie-Tooth Neuropathy, Type 4b2

  • Charcot-Marie-Tooth Neuropathy Type 4b2

  • Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2

  • Cmt 4b2

  • Charcot Marie Tooth Disease Type 4b2

  • Charcot-Marie-Tooth Disease 4b2

  • Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
  • FTDALS1

  • Frontotemporal Dementia And/Or Motor Neuron Disease

  • Ftdmnd

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

  • Alsftd

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

  • Frontotemporal Dementia With Motor Neuron Disease

  • Ftdals

  • Ftd-Als

  • Ftd-Mnd

  • Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

  • Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

  • Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

  • Frontotemporal Lobar Degeneration

  • Grn-Related Frontotemporal Dementia

Optic Nerve Disease
  • Optic Neuropathy

  • Disorder Of The Second Nerve

  • Optic Nerve Disorder

  • Optic Nerve

  • Abnormality Of The Optic Nerve

  • Optic Nerve Disorders

  • Neuropathy, Optic

  • Disorder Of The Optic Nerve

Short Syndrome
  • Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, And Teething Delay

  • Aarskog-Ose-Pande Syndrome

  • Lipodystrophy, Partial, With Rieger Anomaly And Short Stature

  • Lipodystrophy-Rieger Anomaly-Diabetes Syndrome

  • Rieger Anomaly-Partial Lipodystrophy Syndrome

  • Partial Lipodystrophy With Rieger Anomaly And Short Stature

  • Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly And Teething Delay

  • Growth Retardation-Rieger Anomaly

  • Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay

  • SHORTS

Tremor, Hereditary Essential, 2
  • ETM2

  • Essential Tremor 2

  • Essential Tremor, Hereditary, 2

  • Hereditary Essential Tremor 2

  • Tremor Hereditary Essential, 2

Cerebral Degeneration
  • Brain Degeneration

  • Degenerative Brain Disorder

Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Demyelinating Disease
  • Demyelinating Diseases

  • Demyelinating Disorder

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Movement Disease
  • Movement Disorders

  • Movement Disorder

Giant Axonal Neuropathy 2
Autism Spectrum Disorder
  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Pick Disease Of Brain
  • Pick Disease

  • Pick'S Disease

  • Pick Disease Of The Brain

  • Lobar Atrophy Of Brain

  • Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

  • Behavioral Variant Of Frontotemporal Dementia

  • Dementia In Pick'S Disease

  • Lobar Atrophy Of The Brain

  • Bvftd

  • Bv-Ftd

  • PIDB

  • Picks Disease

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Intracranial Berry Aneurysm
  • Familial Aneurysmal Subarachnoid Hemorrhage

  • Familial Berry Aneurysm

  • Familial Intracranial Saccular Aneurysm

  • Saccular Cerebral Aneurysm

  • Aneurysm, Intracranial Berry

  • Aneurysmal Subarachnoid Hemorrhage

  • Aneurysm, Intracranial Berry, 1

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus NEFL VGNC VGNC:68455
Canis familiaris NEFL VGNC VGNC:43724
Bos taurus NEFL VGNC VGNC:31986
Mus musculus NEFL MGD MGI:97313
Macaca mulatta NEFL VGNC VGNC:75307
Rattus norvegicus NEFL RGD RGD:621458
Others NEFL NCBI