1. Gene
  2. MIA2 - MIA SH3 domain ER export factor 2 Gene

MIA2 - MIA SH3 domain ER export factor 2 Gene

中文名称:MIA SH3 域 ER 导出因子 2

种属: Homo sapiens

同用名: MEA6; MGEA; TALI; MGEA6; CTAGE5; MGEA11

基因 ID: 4253 | 基因类型: protein coding

关于 MIA2

Cytogenetic location: 14q21.1 Genomic coordinates (GRCh38): 14:39,233,915-39,388,522 (from NCBI)

This gene has 19 transcripts (splice variants), 131 orthologues and 10 paralogues. Ubiquitous expression in small intestine (RPKM 22.6), duodenum (RPKM 22.5) and 25 other tissues.

功能概要

该基因编码内质网中的 s 受体,它在大的前乳糜微粒和前极低密度脂蛋白 (pre-VLDL) 的输出中发挥作用。该基因产生了三大类转录物——黑色素瘤抑制活性 2 特异性转录物、cTAGE 家族成员 5 特异性转录物和包括来自这两种转录物种类 (TANGO1 样或 TALI) 的外显子的转录物。此外,这些转录本中的可变剪接会导致编码多个亚型的多个转录本变体。[RefSeq 提供,2016 年 9 月]

This gene encodes s receptor in the endoplasmic reticulum, which plays a role in the export of large pre-chylomicrons and pre-very low density lipoproteins (pre-VLDLs). Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species (TANGO1-like or TALI). Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Sep 2016]

MIA2 基因产物(30)

mRNA Protein Name
NM_001247988.1 NP_001234917.1 melanoma inhibitory activity protein 2 isoform 5
NM_001247989.2 NP_001234918.1 melanoma inhibitory activity protein 2 isoform 6
NM_001247990.2 NP_001234919.1 melanoma inhibitory activity protein 2 isoform 7
NM_001329214.4 NP_001316143.1 melanoma inhibitory activity protein 2 isoform 8 precursor
NM_001354137.2 NP_001341066.1 melanoma inhibitory activity protein 2 isoform 4
NM_001354138.1 NP_001341067.1 melanoma inhibitory activity protein 2 isoform 4
NM_001354139.2 NP_001341068.1 melanoma inhibitory activity protein 2 isoform 5
NM_001354140.2 NP_001341069.1 melanoma inhibitory activity protein 2 isoform 10
NM_001354141.2 NP_001341070.1 melanoma inhibitory activity protein 2 isoform 10
NM_001354142.1 NP_001341071.1 melanoma inhibitory activity protein 2 isoform 11
NM_001354143.1 NP_001341072.1 melanoma inhibitory activity protein 2 isoform 11
NM_001354144.2 NP_001341073.1 melanoma inhibitory activity protein 2 isoform 11
NM_001354145.2 NP_001341074.1 melanoma inhibitory activity protein 2 isoform 12
NM_001354146.2 NP_001341075.1 melanoma inhibitory activity protein 2 isoform 13
NM_001354147.1 NP_001341076.1 melanoma inhibitory activity protein 2 isoform 14
NM_001354148.1 NP_001341077.1 melanoma inhibitory activity protein 2 isoform 15
NM_001354149.1 NP_001341078.1 melanoma inhibitory activity protein 2 isoform 16
NM_001354150.2 NP_001341079.1 melanoma inhibitory activity protein 2 isoform 17
NM_001354151.2 NP_001341080.1 melanoma inhibitory activity protein 2 isoform 18
NM_001354152.3 NP_001341081.1 melanoma inhibitory activity protein 2 isoform 19
NM_001354153.2 NP_001341082.1 melanoma inhibitory activity protein 2 isoform 20
NM_001354154.2 NP_001341083.1 melanoma inhibitory activity protein 2 isoform 21
NM_001354155.2 NP_001341084.1 melanoma inhibitory activity protein 2 isoform 22
NM_001354156.2 NP_001341085.1 melanoma inhibitory activity protein 2 isoform 23
NM_001354157.2 NP_001341086.1 melanoma inhibitory activity protein 2 isoform 24
NM_005930.4 NP_005921.2 melanoma inhibitory activity protein 2 isoform 1
NM_054024.4 NP_473365.3 melanoma inhibitory activity protein 2 isoform 9 precursor
NM_203354.3 NP_976229.1 melanoma inhibitory activity protein 2 isoform 2
NM_203355.3 NP_976230.1 melanoma inhibitory activity protein 2 isoform 3
NM_203356.2 NP_976231.1 melanoma inhibitory activity protein 2 isoform 4
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 cargo receptor activity IMP
IMP: 通过突变表型推断
27138255 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21525241 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
IMP: 通过突变表型推断
27138255 GOA
involved in lipoprotein transport IMP
IMP: 通过突变表型推断
27138255 GOA
involved in protein exit from endoplasmic reticulum IMP
IMP: 通过突变表型推断
21525241 GOA
involved in protein localization to endoplasmic reticulum exit site IMP
IMP: 通过突变表型推断
25202031 GOA
NOT involved in regulation of guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
25202031 GOA
involved in vesicle cargo loading IMP
IMP: 通过突变表型推断
27138255 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum exit site IDA
IDA: 通过直接分析推断
21525241 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
蛋白主名 其他名称

melanoma inhibitory activity protein 2

CTAGE family member 5, ER export factor

关联疾病

疾病名称 别名
Craniolenticulosutural Dysplasia

Boyadjiev-Jabs Syndrome

CLSD

Cranio-Lenticulo-Sutural Dysplasia

Cranio-Lenticulo-Sutural Dysplasia, Clsd

Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Anemia, Congenital Dyserythropoietic, Type Ii

Congenital Dyserythropoietic Anemia Type Ii

CDAN2

Cda Ii

Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test

Cda Type Ii

Congenital Dyserythropoietic Anemia Type 2

Hereditary Erythroblastic Multinuclearity With A Positive Acidified-Serum Test

Sec23b-Cdg

Congenital Dyserythropoietic Anemia, Type Ii

Dyserythropoietic Anemia, Hempas Type

Hempas

Cda Type 2

Dyserythropoietic Anemia, Congenital, Type Ii

Cda, Type Ii

Congenital Dyserythropoietic Anaemia Type 2

Congenital Dyserythropoietic Anaemia Type Ii

Anemia, Dyserythropoietic, Congenital Type 2

Hempas Anemia

Dyserythropoietic Anemia, Congenital Type 2

Anemia, Congenital Dyserythropoietic, 2

Dyserythropoietic Anemia Hempas Type

Anemia, Dyserythropoietic Congenital, Type Ii

Anemia, Dyserythropoietic, Congenital, Type Ii

Brain Compression

Compression Of Brain

Cystadenofibroma
Intellectual Developmental Disorder, Autosomal Dominant 56

Mental Retardation, Autosomal Dominant 56

MRD56

Autosomal Dominant Mental Retardation 56

Autosomal Dominant Intellectual Developmental Disorder 56

Autosomal Dominant Intellectual Developmental Disorder-56

Osteogenesis Imperfecta, Type Xix

OI19

Osteogenesis Imperfecta Type 19

Osteogenesis Imperfecta Type Xix

Osteogenesis Imperfecta, Type 19

Osteogenesis Imperfecta 19

Mature T-Cell And Nk-Cell Lymphoma

Mature T-Cell And Natural Killer Cell Lymphoma

Nk-T Cell Lymphoma

Tn Polyagglutination Syndrome

Galactosyltransferase Deficiency

Tn Syndrome

TNPS

Tn Polyagglutination Syndrome, Somatic

Psoriasis 15

Psors15

Cole-Carpenter Syndrome

Cole Carpenter Syndrome

Bone Fragility Craniosynostosis Proptosis Hydrocephalus

Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features

Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome

Chylomicron Retention Disease

CMRD

Anderson Disease

Lipid Transport Defect Of Intestine

Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells

Andd

Anderson Syndrome

Crd

Andersons Disease

Malabsorption Syndrome

Amyotrophic Lateral Sclerosis Type 5

Amyotrophic Lateral Sclerosis 5

Als5

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures

SEMDJL1

Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

Semdjl

Spondyloepimetaphyseal Dysplasia With Joint Laxity, 1, With Or Without Fractures

Semdjl-Beighton Type

Spondyloepimetaphyseal Dysplasia With Joint Laxity Beighton Type

Developmental And Epileptic Encephalopathy 48

DEE48

Epileptic Encephalopathy, Early Infantile, 48

Eiee48

Developmental And Epileptic Encephalopathy, 48

Early Infantile Epileptic Encephalopathy 48

Benign Meningioma

Meningioma, Benign

Basal Ganglia Disease

Basal Ganglia Diseases

Basal Ganglia Disorders

Abnormality Of The Basal Ganglia

Cutis Laxa, Autosomal Recessive, Type Iia

ARCL2A

Cutis Laxa With Joint Laxity And Retarded Development

Cutis Laxa With Growth And Developmental Delay

Cutis Laxa, Debre Type

Cutis Laxa With Bone Dystrophy

Arcl2

Cutis Laxa With Congenital Disorder Of Glycosylation

Autosomal Recessive Cutis Laxa Type Iia

Cutis Laxa, Autosomal Recessive Type 2a

Cutis Laxa, Autosomal Recessive, 2a

Cl Type Iia

Cutis Laxa Autosomal Recessive Type Iia

Pettigrew Syndrome

PGS

Mrxs5

Mrx59

Mrxs21

X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome

Mental Retardation, X-Linked, Syndromic 5

Mrxsf

Syndromic X-Linked Intellectual Disability 5

Fried Syndrome

Mental Retardation, X-Linked Syndromic 5

Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures

Mental Retardation, X-Linked, Syndromic, Fried Type

Mental Retardation, X-Linked, Syndromic 21

Syndromic X-Linked Mental Retardation 21

Syndromic X-Linked Mental Retardation Fried Type

X-Linked Metal Retardation With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures

Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease An

Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures

X-Linked Syndromic Intellectual Disability 5

X-Linked Intellectual Disability With Dandy-Walker Malformation Basal Ganglia Disease And Seizures

X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures

X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome

Mental Retardation, X-Linked Syndromic, Fried Type

Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures

Mental Retardation, X-Linked 59

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Marinesco-Sjogren Syndrome

Marinesco-Sjögren Syndrome

MSS

Marinesco-Garland Syndrome

Garland-Moorhouse Syndrome

Hereditary Oligophrenic Cerebello-Lental Degeneration

Oligophrenic Cerebellolenticular Degeneration

Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism

Marinesco-Sjogren Syndrome-Myopathy

Marinesco-Sjogren-Garland Syndrome

Marinesco-Sjoegren Syndrome

Keratosis Pilaris Atrophicans

KPA

Burnett Schwartz Berberian Syndrome

Basal Ganglia Calcification

Fahr'S Syndrome

Fahr'S Disease

Fahr Disease

Maturity-Onset Diabetes Of The Young, Type 3

Maturity-Onset Diabetes Of The Young Type 3

MODY3

Mody, Type Iii

Mody Type 3

Mody, Type 3

Maturity-Onset Diabetes Of The Young 3

Mody-3

Diabetes Of The Young, Maturity-Onset, Type 3

Keratosis Follicularis Spinulosa Decalvans

Kfsd

Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi

Keratosis Follicularis Spinulosa Decalvans, X-Linked

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Autosomal Recessive Cutis Laxa Type Ii Classic Type

Arcl2, Classic Type

Arcl2, Debre Type

Autosomal Recessive Cutis Laxa Type 2, Classic Type

Autosomal Recessive Cutis Laxa Type 2, Debre Type

Bone Development Disease
Epiphyseal Dysplasia, Multiple, 1

EDM1

Multiple Epiphyseal Dysplasia 1

Multiple Epiphyseal Dysplasia Type 1

Med1

Multiple Epiphyseal Dysplasia Comp-Related

Polyepiphyseal Dysplasia Type 1

Multiple Epiphyseal Dysplasia, Comp-Related

Epiphyseal Dysplasia Multiple 1

Epiphyseal Dysplasia, Multiple 1

Dysplasia, Epiphyseal, Multiple, Type 1

Spondyloepimetaphyseal Dysplasia With Joint Laxity

Dysplasia, Spondyloepimetaphyseal, With Joint Laxity

Semdjl

Spondyloepimetaphyseal Dysplasia Joint Laxity

Semd-Jl

Semdjl1

Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Mednik Syndrome

Erythrokeratodermia Variabilis 3

MEDNIK

Ekv3

Erythrokeratodermia Variabilis, Kamouraska Type

Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia

Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Erythrokeratodermia Variabilis Kamouraska Type

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

Cantu Syndrome

Hypertrichotic Osteochondrodysplasia

Hypertrichotic Osteochondrodysplasia Cantu Type

Cantú Syndrome

Craniofaciocardioskeletal Syndrome

Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome

Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum

Congenital Hypertrichosis-Coarse Facial Features Spectrum

HTOCD

Osteochondrodysplasia, Hypertrichotic

Primary Cutaneous T-Cell Non-Hodgkin Lymphoma

Cutaneous T-Cell Lymphoma

Cutaneous T Cell Lymphoma

Lymphoma, T-Cell, Cutaneous

Ctcl

Lymphoma T-Cell Cutaneous

Congenital Dyserythropoietic Anemia

Congenital Dyshaematopoietic Anaemia

Dyserythropoietic Anemia, Congenital

Cda

Anemia, Dyserythropoietic, Congenital

Anemia Dyserythropoietic Congenital

Cda - [Congenital Dyserythropoietic Anaemia]

Dyserythropoietic Dyshaematopoietic Congenital Anaemia

Dyshaematopoietic Anaemia

Dyserythropoietic Anaemia

Adrenal Rest Tumor

Adrenal Rest Neoplasm

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome

Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques

Palmoplantar And Periorificial Keratoderma

Olms

Spastic Paraplegia 50, Autosomal Recessive

Hereditary Spastic Paraplegia 50

SPG50

Ap-4 Deficiency Syndrome

Ap-4-Associated Hereditary Spastic Paraplegia

Adaptor Protein Complex 4 Deficiency

Cerebral Palsy, Spastic Quadriplegic, 3, Formerly

Cpsq3, Formerly

Autosomal Recessive Spastic Paraplegia 50

Cpsq3

Spastic Quadriplegic Cerebral Palsy 3

Ap-4 Deficiency

Ap-4-Associated Hsp

Paraplegia, Spastic, Autosomal Recessive, Type 50

Spastic Paraplegia-50, Autosomal Recessive

Chanarin-Dorfman Syndrome

Neutral Lipid Storage Disease

CDS

Neutral Lipid Storage Disease With Ichthyosis

Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation

Triglyceride Storage Disease With Ichthyosis

Nlsdi

Ichthyotic Neutral Lipid Storage Disease

Dorfman-Chanarin Syndrome

Dcs

Chanarin-Dorfman Disease

Ichthyosiform Erythroderma With Leukocyte Vacuolation

Lipidosis With Triglyceride Storage Disease

Disorder Of Cornification 12

Dorfman Chanarin Syndrome

Neutral Lipid Storage Disease With Ichthyotic

Dorfman-Chanarin Disease

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Spondyloepiphyseal Dysplasia Tarda

X-Linked Spondyloepiphyseal Dysplasia Tarda

SEDT

Sed Tarda, X-Linked

Spondyloepiphyseal Dysplasia, Late

Spondyloepiphyseal Dysplasia Tarda X-Linked

Sed

X Linked Spondyloepiphyseal Dysplasia Tarda

X-Linked Spondyloepiphyseal Dysplasia

Late Onset Spondyloepiphyseal Dysplasia

Sed Tarda

X-Linked Sed

X-Linked Sedt

Dysplasia, Spondyloepiphyseal, Tarda

Spondyloepiphyseal Dysplasia

Mitochondrial Complex Iii Deficiency

Complex 3 Mitochondrial Respiratory Chain Deficiency

Isolated Coq-Cytochrome C Reductase Deficiency

Ubiquinone-Cytochrome C Oxidoreductase Deficiency

Corneal Ectasia
Geroderma Osteodysplasticum

Gerodermia Osteodysplastica

Geroderma Osteodysplastica

GO

Walt Disney Dwarfism

Type Of Gerodermia Osteodysplastica

Peripheral T-Cell Lymphoma

Lymphoma T-Cell Peripheral

Dentinogenesis Imperfecta

Hereditary Opalescent Dentin

Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

Dgi

Capdepont Teeth

Dgi Without Oi

Di

Non-Syndromic Dgi

Non-Syndromic Dentinogenesis Imperfecta

Opalescent Teeth Without Oi

Opalescent Teeth Without Osteogenesis Imperfecta

Opalescent Dentin

Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium

Osteopsathyrosis

Lobstein Disease

Oi

Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness

Congenital Hemolytic Anemia

Anemia Hemolytic Congenital

Anemia, Hemolytic, Congenital

Congenital Hemolytic Anaemia

Hereditary Hemolytic Anaemia

Hereditary Hemolytic Anemia

Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

Occipital Horn Syndrome

OHS

Eds Ix

Cutis Laxa X-Linked

Cutis Laxa, X-Linked

Cutis Laxa, X-Linked, Formerly

Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly

Eds Ix, Formerly

Eds9, Formerly

Ehlers-Danlos Syndrome Type 9

Ehlers-Danlos Syndrome Type Ix

X-Linked Cutis Laxa

Ehlers-Danlos Syndrome, Occipital Horn Type

Eds9

Ehlers-Danlos Syndrome Occipital Horn Type

Dentin Dysplasia

Dentinal Dysplasia

Dd

Dysplasia, Dentin

Shell Teeth

Achondrogenesis

Achondrogenesis Syndrome

Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome

Hennekam Lymphangiectasia-Lymphedema Syndrome

Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome

Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome

Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome

Lymphangiectasies And Lymphedema Hennekam Type

Generalized Lymphatic Dysplasia

Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

Lymphoma, Non-Hodgkin, Familial

Non-Hodgkin Lymphoma

Lymphoma, Non-Hodgkin

NHL

Lymphoma, Non-Hodgkin, Somatic

Lymphoma, Follicular, Somatic

Familial Non-Hodgkin Lymphoma

Lymphoma Non-Hodgkins

Follicular Lymphoma, Somatic

Lymphosarcoma

Non-Hodgkins Lymphoma

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

Lipid Metabolism Disorder

Dyslipidemia

Disorder Of Fatty Acid Metabolism

Lipid Metabolism Disorders

Fatty Acid Metabolism Disorder

Disorder Of Lipid Metabolism

Abnormality Of Lipid Metabolism

Lipid Metabolism, Inborn Errors

Dyslipidemias

Disorders Of Lipid Metabolism

Congenital Disorders Of Lipid Metabolism

Inherited Disorders Of Lipid Metabolism

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

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

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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
Rattus norvegicus MIA2 RGD RGD:6488546
Mus musculus MIA2 MGD MGI:2159614