MIA2 - MIA SH3 domain ER export factor 2 Gene

Also Known as MEA6; MGEA; TALI; MGEA6; CTAGE5; MGEA11

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 4253

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence 参考文献 由来
enables cargo receptor activity IMP
IMP: Inferred from mutant phenotype
27138255 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21525241 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
IMP: Inferred from mutant phenotype
27138255 GOA
involved in lipoprotein transport IMP
IMP: Inferred from mutant phenotype
27138255 GOA
involved in protein exit from endoplasmic reticulum IMP
IMP: Inferred from mutant phenotype
21525241 GOA
involved in protein localization to endoplasmic reticulum exit site IMP
IMP: Inferred from mutant phenotype
25202031 GOA
NOT involved in regulation of guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
25202031 GOA
involved in vesicle cargo loading IMP
IMP: Inferred from mutant phenotype
27138255 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in endoplasmic reticulum exit site IDA
IDA: Inferred from direct assay
21525241 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

melanoma inhibitory activity protein 2

  • CTAGE family member 5, ER export factor

MIA2 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
MIA2 Q96PC5 CCHCR1 Homo sapiens Q8TD31-3 25416956
Intra
MIA2 Q96PC5 TTC23L Homo sapiens Q6PF05-3 25416956
Intra
MIA2 Q96PC5 TTC23L Homo sapiens Q6PF05-3 25416956
Intra
MIA2 Q96PC5 TTC23L Homo sapiens Q6PF05-3 25416956
Intra
MIA2 Q96PC5 CEP57 Homo sapiens Q86XR8 25416956
Intra
MIA2 Q96PC5 PSMA3 Homo sapiens P25788 25416956
Intra
MIA2 Q96PC5 PSMA3 Homo sapiens P25788 25416956
Intra
MIA2 Q96PC5 RASAL2 Homo sapiens Q9UJF2 25416956
Intra
MIA2 Q96PC5 RASAL2 Homo sapiens Q9UJF2 25416956
Intra
MIA2 Q96PC5 TLE5 Homo sapiens Q08117 25416956
Intra
MIA2 Q96PC5 MAGEB18 Homo sapiens Q96M61 25416956
Intra
MIA2 Q96PC5 EMILIN1 Homo sapiens Q9Y6C2 25416956
Intra
MIA2 Q96PC5 EMILIN1 Homo sapiens Q9Y6C2 25416956
Intra
MIA2 Q96PC5 SS18L1 Homo sapiens O75177 25416956
Intra
MIA2 Q96PC5 SS18L1 Homo sapiens O75177 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
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

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

生物種 Symbol 由来 ID
Rattus norvegicus MIA2 RGD RGD:6488546
Mus musculus MIA2 MGD MGI:2159614