1. Gene
  2. MBP - myelin basic protein Gene

MBP - myelin basic protein Gene

中文名称:髓鞘碱性蛋白

种属: Homo sapiens

基因 ID: 4155 | 基因类型: protein coding

关于 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).

功能概要

由经典 MBP 基因编码的蛋白质是神经系统中少突胶质细胞和雪旺细胞髓鞘的主要成分。然而,MBP 相关的转录物也存在于骨髓和免疫系统中。这些 mRNA 源自长 MBP 基因 (也称为“Golli-MBP”) ,该基因包含位于经典 MBP 外显子上游的 3 个额外外显子。 Golli 和 MBP 转录起始位点的选择性剪接产生了 2 组 MBP 相关转录本和基因产物。 Golli mRNA 包含 3 个 Golli-MBP 特有的外显子,与 1 个或多个 MBP 外显子框内剪接。它们编码的杂合蛋白具有与 MBP aa 序列相连的 N 端 Golli aa 序列。第二个转录本家族仅包含 MBP 外显子并产生特征明确的髓鞘碱性蛋白。这种复杂的基因结构在物种之间是保守的,表明 MBP 转录单位是 Golli 转录单位的组成部分,并且这种排列对于这些基因的功能和/或调节很重要。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calmodulin binding IPI
IPI: 通过物理相互作用推断
19855925 GOA
enables lipid binding EXP
EXP: 通过实验结果推断
18326633 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17064692 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in MAPK cascade IDA
IDA: 通过直接分析推断
22524708 GOA
involved in maintenance of blood-brain barrier IDA
IDA: 通过直接分析推断
22524708 GOA
involved in negative regulation of heterotypic cell-cell adhesion IDA
IDA: 通过直接分析推断
22524708 GOA
involved in positive regulation of chemokine (C-X-C motif) ligand 2 production IDA
IDA: 通过直接分析推断
22524708 GOA
involved in positive regulation of interleukin-6 production IDA
IDA: 通过直接分析推断
22524708 GOA
involved in positive regulation of metalloendopeptidase activity IDA
IDA: 通过直接分析推断
22524708 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in myelin sheath IDA
IDA: 通过直接分析推断
19855925 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
19855925 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MBP 蛋白结构

Myelin_MBP

Myelin_MBP: Myelin basic protein (149 - 304)

  • 0
  • 100
  • 200
  • 304 a.a.
蛋白主名 其他名称

myelin basic protein

Golli-MBP

myelin A1 protein

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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
Canis lupus familiaris MBP NCBI
Others MBP NCBI