MBP - myelin basic protein Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4155

About MBP

Cytogenetic location: 18q23 Genomic coordinates (GRCh38): 18:76,978,833-77,133,708 (from NCBI)

This gene has 49 transcripts (splice variants) and 285 orthologues. Biased expression in brain (RPKM 287.3) and thyroid (RPKM 8.9).

Summary

The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called "Golli-MBP") that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008]

MBP Products (6)

mRNA Protein Name
NM_001025081.2 NP_001020252.1 myelin basic protein isoform 1
NM_001025090.2 NP_001020261.1 myelin basic protein isoform 3
NM_001025092.2 NP_001020263.1 myelin basic protein isoform 4
NM_001025100.2 NP_001020271.1 Golli-MBP isoform 2
NM_001025101.2 NP_001020272.1 Golli-MBP isoform 1
NM_002385.3 NP_002376.1 myelin basic protein isoform 2
Molecular Function GO Annotation Evidence References Source
enables calmodulin binding IPI
IPI: Inferred from physical interaction
19855925 GOA
enables lipid binding EXP
EXP: Inferred from Experiment
18326633 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17064692 GOA
Biological Process GO Annotation Evidence References Source
involved in MAPK cascade IDA
IDA: Inferred from direct assay
22524708 GOA
involved in maintenance of blood-brain barrier IDA
IDA: Inferred from direct assay
22524708 GOA
involved in negative regulation of heterotypic cell-cell adhesion IDA
IDA: Inferred from direct assay
22524708 GOA
involved in positive regulation of chemokine (C-X-C motif) ligand 2 production IDA
IDA: Inferred from direct assay
22524708 GOA
involved in positive regulation of interleukin-6 production IDA
IDA: Inferred from direct assay
22524708 GOA
involved in positive regulation of metalloendopeptidase activity IDA
IDA: Inferred from direct assay
22524708 GOA
Cellular Component GO Annotation Evidence References Source
located in myelin sheath IDA
IDA: Inferred from direct assay
19855925 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
19855925 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

MBP Protein Structure

Myelin_MBP

Myelin_MBP: Myelin basic protein (149 - 304)

  • 0
  • 100
  • 200
  • 304 a.a.
Protein Preferred Names Protein Names

myelin basic protein

Golli-MBP

  • myelin A1 protein

MBP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MBP P02686 IDE Homo sapiens P14735 33961781
Intra
MBP P02686 CTDSP1 Homo sapiens Q9GZU7 31515488
Intra
MBP P02686 CTDSP1 Homo sapiens Q9GZU7 33961781
Intra
MBP P02686 CTDSP1 Homo sapiens Q9GZU7 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

MBP Antibodies

Cat. No. Product Name Application Reactivity
HY-P83526 Myelin Basic Protein Antibody (YA3271) WB Human, Rat
HY-P83526A Myelin Basic Protein Antibody (YA3271)(PBS only) WB Human, Rat
HY-P85921 Myelin Basic Protein Antibody (YA5613) IHC-P, WB, ICC/IF, ELISA Human, Mouse, Rat
HY-P86014 Myelin Basic Protein Antibody (YA5706) IHC-P, ELISA Human, Mouse, Rat
HY-P86918 Myelin Basic Protein Antibody(YA6611) WB, IHC-P, IHC-F, IF-Tissue, mIHC Human, Mouse, Rat, Monkey, Pig

Related Diseases

Diseases Alias
Secondary Progressive Multiple Sclerosis
  • Secondary-Progressive Ms

  • Spms

  • Multiple Sclerosis, Chronic Progressive

  • Chronic Progressive Multiple Sclerosis

  • Multiple Sclerosis, Secondary Progressive

Demyelinating Disease
  • Demyelinating Diseases

  • Demyelinating Disorder

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

Acute Disseminated Encephalomyelitis
  • Acute Disseminated Encephalitis

  • Adem

  • Ade

  • Encephalomyelitis Acute Disseminated

  • Encephalomyelitis, Acute Disseminated

  • Adem - [Acute Disseminated Encephalomyelitis]

Optic Neuritis
  • Inflammatory Optic Neuropathy

Guillain-Barre Syndrome
  • Guillain-Barré Syndrome

  • Acute Inflammatory Polyneuropathy

  • Gbs

  • Acute Inflammatory Demyelinating Polyneuropathy

  • Acute Inflammatory Demyelinating Polyradiculoneuropathy

  • Acute Infective Polyneuritis

  • Acute Inflammatory Demyelinating Polyradiculopathy

  • Acute Postinfectious Polyneuropathy

  • Infectious Neuronitis

  • Post-Infectious Polyneuritis

  • Postinfectious Polyneuritis

  • Acute Autoimmune Peripheral Neuropathy

  • Acute Immune-Mediated Polyneuropathy

  • Acute Inflammatory Neuropathy

  • Guillain-Barré-Strohl Syndrome

  • Landry'S Ascending Paralysis

  • Landry-Guillain-Barre-Strohl Syndrome

  • Post-Infective Polyneuritis

  • Acute Infectious Polyneuritis

  • Fisher Syndrome

  • Landry-Guillain-Barre Syndrome

  • Guillain-Barre-Strohl Syndrome

  • Variant Of Guillain-Barre Syndrome

  • Variant Of Gbs

  • Aidp

  • Acute Idiopathic Demyelinating Polyneuropathy

  • Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form

  • Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form

  • Miller Fisher Syndrome

Chromosome 18q Deletion Syndrome
  • 18q- Syndrome

  • Monosomy 18q

  • Deletion Of Long Arm Of Chromosome 18

  • Chromosome 18q- Syndrome

  • Deletion 18q

  • 18q Deletion Syndrome

  • Distal 18q Deletion Syndrome

  • Chromosome 18 Long Arm Deletion Syndrome

  • Chromosome 18q Monosomy

  • Del Syndrome

  • Chromosome 18 Deletion Syndrome

Relapsing-Remitting Multiple Sclerosis
  • Relapsing-Remitting Ms

  • Relapsing Remitting Multiple Sclerosis

  • Multiple Sclerosis, Relapsing-Remitting

  • Rrms

  • Multiple Sclerosis Relapsing-Remitting

Primary Progressive Multiple Sclerosis
  • Ppms

  • Primary-Progressive Ms

  • Multiple Sclerosis, Primary Progressive

Pelizaeus-Merzbacher Disease
  • PMD

  • HLD1

  • Pelizaeus-Merzbacher Brain Sclerosis

  • Leukodystrophy, Hypomyelinating, 1

  • Diffuse Familial Brain Sclerosis

  • Pelizaeus Merzbacher Brain Sclerosis

  • Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type

  • Cockayne-Pelizaeus-Merzbacher Disease

  • Hypomyelinating Leukodystrophy 1

  • Leukodystrophy, Sudanophilic

  • Pelizaeus Merzbacher Disease

  • Hypomyelinating Leukodystrophy, 1

  • Sudanophilic Leukodystrophy

  • Pelizaeus-Merzbacher Disease, Connatal Form

  • Connatal Pmd

  • Pelizaeus-Merzbacher Disease Type Ii

  • Severe Pmd

  • Null Syndrome

  • Plp1 Null Syndrome

  • Pelizaeus-Merzbacher Disease, Null Syndrome

  • Brain Sclerosis Diffuse Familial

  • Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type

  • Leukodystrophy Hypomyelinating 1

  • Diffuse Cerebral Sclerosis Of Schilder

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

Neuritis
  • Peripheral Neuritis

Central Pontine Myelinolysis
  • Myelinolysis, Central Pontine

  • Osmotic Demyelination Syndrome

  • Cpm

  • Myelinolysis Central Pontine

  • Central Pontine Myelinosis

Progressive Multifocal Leukoencephalopathy
  • Pml

  • Leukoencephalopathy, Progressive Multifocal

  • Progressive Multifocal Leukoencephalitis

  • Leukoencephalopathy Progressive Multifocal

  • Pml - [Progressive Multifocal Leukoencephalopathy]

Chiari Malformation
Transverse Myelitis
  • Myelitis Transverse

  • Myelitis, Transverse

Polyradiculoneuropathy
Chronic Inflammatory Demyelinating Polyradiculoneuropathy
  • Chronic Inflammatory Demyelinating Polyneuropathy

  • Cidp

  • Polyradiculoneuropathy Chronic Inflammatory Demyelinating

  • Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

Akinetic Mutism
  • Coma Vigilans

Myelitis
  • Spinal Cord Inflammation Nos

  • Radiculomyelitis Nos

  • Myeloradiculitis

Autoimmune Disease
  • Autoimmune Diseases

  • Autoimmune Hypersensitivity Disease

  • Hypersensitivity Reaction Type Ii Disease

  • Type Ii Hypersensitivity Reaction Disease

Oligodendroglioma
  • Oligodendroglial Neoplasm

  • Oligodendroglial Tumor

  • Oligodendroglial Tumors

  • Well Differentiated Oligodendroglioma

Subacute Sclerosing Panencephalitis
  • SSPE

  • Dawson Encephalitis

  • Immunosuppressive Measles Encephalitis

  • Subacute Sclerosing Leukoencephalitis

  • Panencephalitis, Subacute Sclerosing

  • Subacute Sclerosing Leukoencephalopathy

  • Van Bogaert'S Sclerosing Leukoencephalitis

  • Dawson Disease

  • Subacute Inclusion Body Encephalitis

  • Van Bogaert Disease

  • Van Bogaert Encephalitis

  • Measles Inclusion Body Encephalitis

  • Mibe - [Measles Inclusion Body Encephalitis]

  • Sspe - [Subacute Sclerosing Panencephalitis]

  • Van Bogaert Leukoencephalitis

  • Van Bogaert Sclerosing Leukoencephalitis

  • Dawson Inclusion Body Encephalitis

  • Van Bogaert Sclerosing Leukoencephalopathy

  • Bodechtel Guttman Disease

  • Diffuse Sclerosing Encephalitis

Krabbe Disease
  • Globoid Cell Leukodystrophy

  • Galactosylceramide Beta-Galactosidase Deficiency

  • Galc Deficiency

  • Galactocerebrosidase Deficiency

  • GLD

  • Globoid Cell Leukoencephalopathy

  • Diffuse Globoid Body Sclerosis

  • Gcl

  • Leukodystrophy, Globoid Cell

  • Krabbe'S Leukodystrophy

  • Krabbe Leukodystrophy

  • KRB

  • Beta Galactocerebrosidase Deficiency

  • Krabbe'S Disease

  • Galactosylceramidase Deficiency Disease

  • Galactosylceramide Lipidosis

  • Galactosylcerebrosidase Deficiency

  • Galactosylsphingosine Lipidosis

  • Psychosine Lipidosis

  • Galactosylceramidase Deficiency

  • Infantile Globoid Cell Leukodystrophy

  • Krabbe Brain Sclerosis

Myasthenia Gravis
  • MG

  • Acquired Myasthenia

  • Autoimmune Myasthenia Gravis

  • Erb-Goldflam Disease

  • Mg - [Myasthenia Gravis]

  • Myasthenia Gravis Nos

  • Myasthenia

Aging
Central Nervous System Disease
  • Cns Disorder

  • CNS

  • Cns Diseases

  • Central Nervous System Diseases

Viral Encephalitis
  • Epidemic Encephalitis

  • Encephalitis Viral

  • Encephalitis, Arbovirus

  • Arbovirus Encephalitis

  • Postviral Encephalitis Nos

  • Equine Encephalitis

  • Tick-Borne Encephalitis

  • Viral Encephalitis Transmitted By Tick

  • Mosquito-Borne Encephalitis

  • Acute Haemorrhagic Encephalitis

  • Acute Idiopathic Encephalitis

  • Chronic Viral Encephalitis

  • Endemic Encephalitis

  • Subacute Viral Encephalitis

  • Viral Haemorrhagic Encephalitis

  • Viral Nonepidemic Encephalitis

  • Nonepidemic Encephalitis

Dysgammaglobulinemia
Polyneuropathy
  • Polyneuropathies

Balo Concentric Sclerosis
  • Balo'S Concentric Sclerosis

  • Balo Disease

  • Diffuse Cerebral Sclerosis Of Schilder

  • Tumefactive Multiple Sclerosis

  • Concentric Demyelination

  • Balo'S Disease

  • Baló Concentric Sclerosis

  • Encephalitis Periaxialis Concentrica

  • Marburg Variant

Autoimmune Disease Of Peripheral Nervous System
Occlusion Precerebral Artery
  • Occlusion And Stenosis Of Multiple And Bilateral Precerebral Arteries

  • Occlusion And Stenosis Of Precerebral Artery

Encephalomalacia
Niemann-Pick Disease, Type A
  • Niemann-Pick Disease Type A

  • Sphingomyelin Lipidosis

  • Sphingomyelinase Deficiency

  • Niemann-Pick Disease, Intermediate, Protracted Neurovisceral

  • Acid Sphingomyelinase Deficiency, Neurovisceral Type

  • Asmd, Neurovisceral Type

  • Infantile Neurovisceral Acid Sphingomyelinase Deficiency

  • Infantile Neurovisceral Asmd

  • Npd-A

  • Niemann-Pick Disease A

  • NPDA

  • Classical Niemann-Pick Disease

  • Niemann-Pick Disease Acute Neuronopathic Form

  • Niemann-Pick Disease Acute Neurovisceral Form

  • Niemann-Pick Disease Classical Infantile Form

  • Niemann-Pick Disease Intermediate Protracted Neurovisceral

  • Niemann-Pick Disease Neuronopathic Type

  • Niemann-Pick Disease Type I

  • Npa

  • Niemann-Pick Diseases

Neonatal Hypoxic And Ischemic Brain Injury
  • Perinatal Asphyxia

  • Hypoxic-Ischemic Encephalopathy

  • Perinatal Hypoxia

  • Hie

  • Hypoxic And Ischemic Brain Injury In The Newborn

  • Encephalopathy, Hypoxic Ischemic

  • Encephalopathies Hypoxic-Ischemic

  • Hypoxic Ischemic Encephalopathy

  • Hypoxic Ischaemic Brain Injury

  • Brain Hypoxia

  • Cerebral Hypoxia

  • Hypoxic Encephalopathy

  • Hypoxic Brain Damage

  • Hypoxic Brain Injury

  • Brainstem Hypoxia

  • Hypoxic Brainstem Damage

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

Autoimmune Disease Of Central Nervous System
Niemann-Pick Disease
  • Sphingomyelin/Cholesterol Lipidosis

  • Niemann-Pick Diseases

  • Lipoid Histiocytosis

  • Sphingomyelin Lipidosis

  • Sphingomyelinase Deficiency Disease

  • Lipid Histiocytosis

  • Neuronal Cholesterol Lipidosis

  • Neuronal Lipidosis

  • Npd

  • Sphingomyelinase Deficiency

  • Niemann-Pick Disease, Type A

Carotid Artery Occlusion
  • Occlusion And Stenosis Of Carotid Artery

Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
  • Aqueductal Stenosis

  • Aqueductal Stenosis, X-Linked

  • Hsas

  • Hsas1

  • Hycx

  • Hydrocephalus, X-Linked

  • Xlas

  • X-Linked Hydrocephalus Syndrome

Vulvar Dystrophy
  • Dystrophy Of Vulva

Finger Agnosia
Acute Retrobulbar Neuritis
  • Retrobulbar Neuritis

  • Retrobulbar Optic Neuritis

Meningovascular Neurosyphilis
Periventricular Leukomalacia
  • Leukomalacia, Periventricular

  • Pvl

  • Leukomalacia Periventricular

Tropical Spastic Paraparesis
  • Tropical Spastic Paraplegia

  • Ham/Tsp

  • Htlv-Associated Myelopathy

  • Tropical Spastic Paralysis

  • Htlv-1 Associated Myelopathy/Tropical Spastic Paraparesis

  • Human T-Cell Leukemia Virus Type 1 Associated Myelopathy/Tropical Spastic Paraparesis

  • Htlv-1-Associated Myelopathy/Tropical Spastic Paraparesis

  • Human T-Lymphotropic Virus Type I-Associated Myelopathy/Tropical Spastic Paraparesis

  • Human T-Lymphotropic Virus Type-1-Associated Myelopathy/Tropical Spastic Paraparesis

  • Tsp

  • Paraparesis Tropical Spastic

  • Paraparesis, Tropical Spastic

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

Neurilemmoma
  • Schwannoma

  • Benign Schwannoma

  • Neurilemoma

  • Peripheral Fibroblastoma

  • Psammomatous Schwannoma

  • Neurolemmoma

  • Schwannomas

Hydrocephalus
  • Hydrocephalus, Nonsyndromic, Autosomal Recessive

  • Hydrocephalus, X-Linked

  • Hydrocephalus Adverse Event

  • Hydrocephaly Nos

Autoimmune Optic Neuritis
Meningoencephalitis
  • Acquired Toxoplasmal Meningoencephalitis

  • Meningoencephalitis Due To Acquired Toxoplasmosis

  • Meningoencephalitis Due To Toxoplasmosis

  • Toxoplasma Meningoencephalitis

Internuclear Ophthalmoplegia
  • Ophthalmoplegia Internuclearis

  • Bielschowsky-Lutz-Cogan Syndrome

  • Ino - [Internuclear Ophthalmoplegia]

  • Lhermitte Syndrome

  • Mlf - [Medial Longitudinal Fasciculus] Syndrome

  • Internuclear Paralysis

Cranial Nerve Disease
  • Cranial Nerve Disorder

  • Disorder Of Cranial Nerve

  • Cranial Nerve Diseases

Vascular Dementia
  • Dementia, Vascular

  • Multi Infarct Dementia

  • Multifocal Dementia

  • Dementia Vascular

  • Vascular Dementia, Susceptibility To

  • Dementia, Multi-Infarct

  • Multi-Infarct Dementia

Post-Vaccinal Encephalitis
  • Encephalitis Following Immunization Procedures

  • Postvaccinal Encephalomyelitis

  • Encephalomyelitis, Acute Disseminated

Progressive Relapsing Multiple Sclerosis
  • Prms

  • Progressive-Relapsing Ms

  • Multiple Sclerosis, Progressive Relapsing

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

Striatonigral Degeneration
Olivopontocerebellar Atrophy
  • Thomas Syndrome

  • Olivopontocerebellar Atrophies

  • Dejerine-Thomas Syndrome

  • Thomas' Syndrome

  • Wadia-Swami Syndrome

  • Opca

  • Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome

  • Spinocerebellar Ataxia Type 2

Acquired Immunodeficiency Syndrome
  • Acquired Immune Deficiency Syndrome

  • AIDS

  • Acquired Immune Deficiency

  • Acquired Immunodeficiency

  • Acquired Immunodeficiency Due To Protein Loss

Postinfectious Encephalitis
  • Postinfective Encephalitis

  • Secondary Encephalitis

Granulomatous Angiitis
  • Vasculitis, Central Nervous System

Chronic Salpingo-Oophoritis
  • Chronic Salpingitis And Oophoritis

  • Chronic Salpingitis/Oophoritis

Demyelinating Polyneuropathy
  • Peripheral Demyelinating Neuropathy

  • Demyelinating Peripheral Neuropathy

Copper Deficiency Myelopathy
  • Swayback

  • Human Swayback

Cerebral Degeneration
  • Brain Degeneration

  • Degenerative Brain Disorder

Acute Hemorrhagic Leukoencephalitis
  • Ahl

  • Acute Haemorrhagic Leucoencephalitis Of Weston Hurst

  • Leukoencephalitis, Acute Hemorrhagic

  • Acute Hemorrhagic Encephalomyelitis

  • Acute Necrotizing Hemorrhagic Leukoencephalitis

  • Weston-Hurst Syndrome

  • Ahle

  • Acute Haemorrhagic Leucoencephalitis

  • Hurst Disease

  • Acute Haemorrhagic Leukoencephalitis, Postimmunization Or Postvaccinal

  • Postimmunization Or Postvaccinal Leukoencephalopathy

Arachnoiditis
  • Spinal Arachnoiditis

  • Adhesive Arachnoiditis

  • Chronic Arachnoiditis

  • Familial Spinal Arachnoiditis

  • Arachnitis

  • Arachnoid Inflammation

Canavan Disease
  • Aspartoacylase Deficiency

  • Aminoacylase 2 Deficiency

  • Spongy Degeneration Of Central Nervous System

  • Aspa Deficiency

  • Acy2 Deficiency

  • Canavan-Van Bogaert-Bertrand Disease

  • Mild Canavan Disease

  • Asp Deficiency

  • Spongy Degeneration Of The Central Nervous System

  • Severe Canavan Disease

  • Von Bogaert-Bertrand Disease

  • Canavan'S Disease

  • Spongy Degeneration Of The Brain

  • Juvenile Canavan Disease

  • Infantile Canavan Disease

  • Neonatal Canavan Disease

  • CAND

  • Disease, Canavan

  • Canavan Disease, Juvenile

  • Canavan Disease, Infantile

  • Canavan Disease, Neonatal

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

Agraphia
Spinal Cord Disease
  • Spinal Cord Diseases

  • Myelopathy

  • Bone Marrow Diseases

Rett Syndrome
  • Atypical Rett Syndrome

  • RTT

  • Rett Disorder

  • Rts

  • Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

  • Rett Syndrome, Preserved Speech Variant

  • Rett Syndrome, Atypical

  • Rett'S Disorder

  • Rett Syndrome Variant

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

  • Cerebroatrophic Hyperammonemia

  • Rett Like Syndrome

  • Rett'S Syndrome

  • Atypical Rtt

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

  • Rett Syndrome Preserved Speech Variant

  • Rett Syndrome Zappella Variant

  • Rett Syndrome, Zappella Variant

Bell'S Palsy
  • Bell Palsy

  • Facial Nerve Palsy

  • Facial Palsy

  • Facial Paralysis

  • Bell'S Palsy

  • Antoni'S Palsy

  • Facial Cranial Nerve Paralysis

  • Idiopathic Facial Palsy

  • Refrigeration Palsy

  • Facial Nerve Paralysis

  • Seventh Cranial Nerve Paralysis

  • Face Paralysis Nos

Hypomyelinating Leukodystrophy
  • Hld

  • Leukodystrophy, Hypomyelinating

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

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

Leukodystrophy, Hypomyelinating, 2
  • Pmld1

  • Hypomyelinating Leukodystrophy 2

  • HLD2

  • Pelizaeus-Merzbacher-Like Disease 1

  • Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation

  • Pelizaeus-Merzbacher-Like Disease Type 1

  • Pelizaeus-Merzbacher-Like Disease, 1

  • Pelizaeus Merzbacher Like Disease

  • Pelizaeus-Merzbacher-Like Disease

  • Pmld - Pelizaeus Merzbacher Like Disease

  • Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1

  • Pmldar1

  • Leukodystrophy, Hypomyelinating, Type 2

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

Intraocular Pressure Quantitative Trait Locus
  • Glaucoma

  • IOPQTL

  • Glaucoma, Susceptibility To

  • Postinfectious Glaucoma

  • Glaucoma With Ocular Inflammation

  • Glaucoma Secondary To Eye Inflammation

  • Traumatic Glaucoma

  • Glaucoma With Concussion Of Globe

  • Glaucoma Due To Ocular Trauma

  • Glaucoma Associated With Ocular Trauma

  • Glaucoma Secondary To Drugs

Nutritional Deficiency Disease
  • Malnutrition

  • Nutritional Disorder

  • Nutritional Deficiency

  • Nutrition

  • Deficiency Diseases

  • Carbamoyl-Phosphate Synthase I Deficiency Disease

  • Nutrition Disorders

Facial Nerve Disease
  • Facial Nerve Disorder

  • Facial Nerve Diseases

  • Neuropathy Of Facial Nerve

  • Disorders Of 7th Cranial Nerve

  • Disorders Of The Seventh Cranial Nerve

Facial Paralysis
  • Facial Palsy

  • Bell Palsy

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

West Nile Encephalitis
  • West-Nile Encephalitis

  • West Nile Fever

  • West Nile Fever Encephalitis

  • West Nile Fever With Encephalitis

  • West-Nile Fever

  • Encephalitis, West Nile Fever

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

Small Intestine Leiomyoma
  • Leiomyoma, Small Bowel

  • Leiomyoma Of Small Intestine

Stroke, Ischemic
  • Cerebral Infarction

  • Stroke

  • Ischemic Stroke

  • Cerebrovascular Accident

  • Cerebral Infarction, Susceptibility To

  • Stroke, Ischemic, Susceptibility To

  • Cerebral Infarct

  • Ischemic Stroke, Susceptibility To

  • Stroke, Susceptibility To

  • Cva - Cerebral Infarction

  • ISCHSTR

  • Ischemic Cerebrovascular Accident

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Rete Ovarii Benign Neoplasm
Rete Ovarii Adenoma
  • Adenoma Of Rete Ovarii

Metachromatic Leukodystrophy
  • Arylsulfatase A Deficiency

  • MLD

  • Arsa Deficiency

  • Sulfatide Lipidosis

  • Metachromatic Leukoencephalopathy

  • Cerebral Sclerosis, Diffuse, Metachromatic Form

  • Cerebroside Sulfatase Deficiency

  • Leukodystrophy, Metachromatic

  • Pseudoarylsulfatase A Deficiency

  • Leukodystrophy Metachromatic

  • Sulfatidosis

  • Metachromatic Leukodystrophy, Late Infantile

  • Metachromatic Leukodystrophy Variant

  • Deficiency Of Cerebroside-Sulfatase

  • Scholz Cerebral Sclerosis

  • Sulfatide Lipoidosis

  • Cerebral Sclerosis Diffuse Metachromatic Form

  • Arylsulfatase A Deficiency Disease

  • Cerebroside Sulphatase Deficiency Disease

  • Greenfield Disease

  • Metachromatic Leukodystrophy, Adult

  • Metachromatic Leukodystrophy, Juvenile

  • Leukodystrophy Metachromatic Adult

  • Leukodystrophy Metachromatic Juvenile

  • Leukodystrophy Metachromatic Late Infantile

  • Metachromatic Leukodystrophy, Adult Type

  • Metachromatic Leukodystrophy, Juvenile Type

  • Metachromatic Leukodystrophy, Infant

  • Greenfield'S Disease

Polyp Of Corpus Uteri
  • Endometrial/Uterine Polyp

  • Polyp Of Endometrium

  • Polyp Of The Uterus

  • Polyp, Uterus

Immune Deficiency Disease
  • Immunodeficiency

  • Primary Immunodeficiency

  • Primary Immunodeficiency Disease

  • Immunologic Deficiency Syndromes

  • Hypoimmunity

  • Immune Deficiency Disorder

  • Immunodeficiency Syndrome

  • Immune Disorder

  • Primary Immune Deficiency Disorder

  • Immune System Diseases

  • Human Immunodeficiency Virus Infection

  • Hiv - [Human Immunodeficiency Virus Infection]

  • Hiv Positive Nos

  • Hiv Disease

  • Acquired Immune Deficiency Syndrome-Related Complex

  • Aids-Like Syndrome

  • Aids-Related Complex Nos

  • Arc - [Aids-Related Complex]

  • Immunodeficiency Due To Human Immunodeficiency Virus Infection

  • Unspecified Human Immunodeficiency Virus Disease

  • Hiv Disease Nos

  • Human Immunodeficiency Virus Positive Nos

  • Hiv Nos

  • Deficiency Of Complement Initial Pathway

  • Deficiency Of Complement Terminal Pathway

  • Cfdd - [Complement Factor D Deficiency]

  • Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

  • Nonfamilial Hypogammaglobulinaemia

  • Common Variable Immune Deficiency

  • Nonfamilial Agammaglobulinaemia

  • Common Variable Agammaglobulinaemia

  • Agammaglobulinaemia Nos

  • Agammaglobulinaemia Antibody Deficiency Syndrome

  • Hypogammaglobulinaemia Antibody Deficiency Syndrome

  • Acquired Agammaglobulinaemia Nos

  • Hypogammaglobulinaemia Nos

  • Hyper Igm

Spondylometaphyseal Dysplasia With Corneal Dystrophy
  • SMDCD

  • Spondylometaphyseal Dysplasia-Corneal Dystrophy Syndrome

  • Smd-Corneal Dystrophy Syndrome

Spinocerebellar Ataxia 38
  • Spinocerebellar Ataxia Type 38

  • SCA38

  • Ataxia, Spinocerebellar, Type 38

Sarcoid Meningitis
  • Meningitis In Sarcoidosis

Leukoencephalopathy With Vanishing White Matter
  • Cree Leukoencephalopathy

  • Vanishing White Matter Disease

  • Ovarioleukodystrophy

  • Vanishing White Matter Leukodystrophy

  • Childhood Ataxia With Central Nervous System Hypomyelinization

  • Cach

  • Cach Syndrome

  • Myelinosis Centralis Diffusa

  • VWM

  • Cle

  • Childhood Ataxia With Central Nervous System Hypomyelination

  • Childhood Ataxia With Diffuse Central Nervous System Hypomyelination

  • Cach/Vwm

  • Cach/Vwm Syndrome

  • Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter

  • Cree Leukoencehalopathy

  • Late Infantile Cach Syndrome

  • Juvenile Or Adult Cach Syndrome

  • Congenital Or Early Infantile Cach Syndrome

  • Leukodystrophy With Vanishing White Matter

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Systemic Lupus Erythematosus
  • Lupus Nephritis

  • SLE

  • Disseminated Lupus Erythematosus

  • Systemic Lupus Erythematosus, Susceptibility To

  • Lupus Erythematosus, Systemic

  • Lupus Nephritis, Susceptibility To

  • Libman-Sacks Disease

  • Systemic Lupus Erythematosus Susceptibility To

  • Sle - Lupus Erythematosus, Systemic

  • Le Syndrome

  • Lupus

  • Lupus Erythematosus Systemic

  • Lupus Erythematosus, Systemic, Susceptibility To

  • Lupus Vulgaris

  • Lupus Erythematosus, Discoid

  • Lupus Erythematosus

  • Systemic Lupus Erythematosus Nos

  • Sle - [Systemic Lupus Erythematosus]

Leukodystrophy
  • Leukodystrophies

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

3-Methylglutaconic Aciduria, Type Iii
  • Optic Atrophy

  • 3-Methylglutaconic Aciduria Type 3

  • Costeff Syndrome

  • Mga3

  • Costeff Optic Atrophy Syndrome

  • Optic Atrophy Plus Syndrome

  • Infantile Optic Atrophy With Chorea And Spastic Paraplegia

  • 3-Methylglutaconic Aciduria Type Iii

  • Autosomal Recessive Optic Atrophy Plus Syndrome

  • Autosomal Recessive Optic Atrophy Type 3

  • Opa3 Defect

  • MGCA3

  • Mga, Type Iii

  • Iraqi Jewish Optic Atrophy Plus

  • Mga Type Iii

  • Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

  • Iraqi-Jewish 'Optic Atrophy Plus'

  • Optic Atrophy 3, Autosomal Recessive

  • Opa3, Autosomal Recessive

  • Opa3-Related 3-Methylglutaconic Aciduria

  • Iraqi-Jewish Optic Atrophy Plus

  • Atrophy Of Optic Disc

  • 3-Alpha Methylglutaconic Aciduria Type Iii

  • Optic Atrophy 3

  • Optic Atrophy Infantile With Chorea And Spastic Paraplegia

  • Autosomal Recessive Opa3

  • Autosomal Recessive Optic Atrophy 3

  • 3-Methylglutaconic Aciduria 3

  • 3-Alpha-Methylglutaconic Aciduria Type 3

  • Optic Atrophy 3 Autosomal Recessive

  • Atrophy, Optic

  • Atrophy, Optic, Plus Syndrome

  • Optic Nerve Atrophy

  • Primary Optic Atrophy

  • Oa - [Optic Atrophy]

  • Second Cranial Nerve Atrophy

  • Second Cranium Nerve Atrophy

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Cerebral Palsy
  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

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

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
Mus musculus MBP MGD MGI:96925
Canis familiaris MBP VGNC VGNC:53736
Rattus norvegicus MBP RGD RGD:3054
Felis catus MBP VGNC VGNC:80453
Macaca mulatta MBP VGNC VGNC:74673
Bos taurus MBP VGNC VGNC:54450
Others MBP NCBI