1. Gene
  2. PRRT2 - proline rich transmembrane protein 2 Gene

PRRT2 - proline rich transmembrane protein 2 Gene

中文名称:富脯氨酸的跨膜蛋白 2

种属: Homo sapiens

同用名: PKC; EKD1; ICCA; BFIC2; BFIS2; DSPB3; DYT10; FICCA; IFITMD1

基因 ID: 112476 | 基因类型: protein coding

关于 PRRT2

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:29,812,193-29,815,881 (from NCBI)

This gene has 21 transcripts (splice variants), 229 orthologues, 4 paralogues and is associated with 11 phenotypes. Broad expression in brain (RPKM 25.3), ovary (RPKM 15.9) and 16 other tissues.

功能概要

该基因编码一种跨膜蛋白,其 N 端一半含有富含脯氨酸的结构域。对小鼠的研究表明,它主要在胚胎和出生后阶段的大脑和脊髓中表达。该基因的突变与偶发性运动诱发性运动障碍 1 相关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 1 月]

This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

PRRT2 基因产物(3)

mRNA Protein Name
NM_001256442.2 NP_001243371.1 proline-rich transmembrane protein 2 isoform 2
NM_001256443.2 NP_001243372.1 proline-rich transmembrane protein 2 isoform 3
NM_145239.3 NP_660282.2 proline-rich transmembrane protein 2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within neuromuscular process controlling posture IMP
IMP: 通过突变表型推断
22101681 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

PRRT2 蛋白结构

CD225

CD225: Interferon-induced transmembrane protein (261 - 330)

  • 0
  • 100
  • 200
  • 300
  • 340 a.a.
蛋白主名 其他名称

proline-rich transmembrane protein 2

dispanin subfamily B member 3

PRRT2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PRRT2 Q7Z6L0 SMIM5 Homo sapiens Q71RC9
Y2H Array
32296183
种属内
PRRT2 Q7Z6L0 SMIM5 Homo sapiens Q71RC9
Y2H Prey Pooling
32296183
种属内
PRRT2 Q7Z6L0 TLCD4 Homo sapiens Q96MV1
Validated Y2H
32296183
种属内
PRRT2 Q7Z6L0 TLCD4 Homo sapiens Q96MV1
Y2H Array
32296183
种属内
PRRT2 Q7Z6L0 TLCD4 Homo sapiens Q96MV1
Y2H Prey Pooling
32296183
种属内
PRRT2 Q7Z6L0 AQP6 Homo sapiens Q13520
Y2H Array
32296183
种属内
PRRT2 Q7Z6L0 AQP6 Homo sapiens Q13520
Y2H Prey Pooling
32296183
种属内
PRRT2 Q7Z6L0 GPRC5D Homo sapiens Q9NZD1
Validated Y2H
32296183
种属内
PRRT2 Q7Z6L0 GPRC5D Homo sapiens Q9NZD1
Y2H Array
32296183
种属内
PRRT2 Q7Z6L0 GPRC5D Homo sapiens Q9NZD1
Y2H Prey Pooling
32296183
种属内
PRRT2 Q7Z6L0 SLC10A6 Homo sapiens Q3KNW5
Y2H Prey Pooling
32296183
种属内
PRRT2 Q7Z6L0 SLC10A6 Homo sapiens Q3KNW5
Y2H Array
32296183
种属内
PRRT2 Q7Z6L0 MFSD14B Homo sapiens Q5SR56
Y2H Prey Pooling
32296183
种属内
PRRT2 Q7Z6L0 MFSD14B Homo sapiens Q5SR56
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Episodic Kinesigenic Dyskinesia 1

Paroxysmal Kinesigenic Choreoathetosis

Paroxysmal Kinesigenic Dyskinesia

Dystonia 10

Familial Paroxysmal Kinesigenic Dyskinesia

Episodic Kinesigenic Dyskinesia

EKD1

Pkc

Pkd

Dyt10

Familial Pkd

Paroxysmal Kinesigenic Choreathetosis

Familial Paroxysmal Dystonia

Dystonia, Familial Paroxysmal

Dyt-Prrt2

Dystonia, Type 10

Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis

ICCA

Icca Syndrome

Infantile Convulsions And Choreoathetosis

Infantile Convulsions And Paroxysmal Choreoathetosis, Familial

Pkd/Ic

Familial Infantile Convulsions And Paroxysmal Choreoathetosis

Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions

Convulsions, Infantile, With Paroxysmal Choreoathetosis, Familial

Paroxysmal Kinesigenic Dyskinesia And Infantile Convulsions

Icca Syndrome Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions

Dyskinetic Syndrome

Seizures, Benign Familial Infantile, 2

BFIS2

Bfic2

Convulsions, Benign Familial Infantile, 2

Benign Familial Infantile Seizures 2

Benign Familial Infantile Seizures, 2

Benign Familial Infantile Convulsions 2

Benign Familial Infantile Convulsions-2

Seizures, Benign Familial Infantile, Type 2

Seizures, Infantile, Benign, Familial, Type 2

Familial Paroxysmal Nonkinesigenic Dyskinesia

Paroxysmal Nonkinesigenic Dyskinesia

Paroxysmal Dystonic Choreoathetosis

Pnkd

Nonkinesigenic Choreoathetosis

Familial Paroxysmal Choreoathetosis

Mount-Reback Syndrome

Pdc

Paroxysmal Non-Kinesigenic Dyskinesia

Paroxystic Non-Kinesigenic Choreoathetosis

Dyskinesia, Nonkinesigenic, Paroxysmal

Prrt2-Associated Paroxysmal Movement Disorders

Prrt2-Pxmd

Pxmd-Prrt2

Paroxysmal Nonkinesigenic Dyskinesia 1

Paroxysmal Dystonic Choreoathetosis

Mount-Reback Syndrome

PNKD1

Pdc

Fpd1

Dystonia 8

DYT8

Choreoathetosis, Familial Paroxysmal

Choreoathetosis, Nonkinesigenic

Choreoathetosis Familial Paroxysmal

Choreoathetosis Nonkinesigenic

Dystonia-8

Familial Paroxysmal Choreoathetosis

Dyskinesia, Nonkinesigenic, Paroxysmal, Type 1

Paroxysmal Nonkinesigenic Dyskinesia

Benign Familial Infantile Epilepsy

Benign Familial Infantile Seizures

Bfie

Benign Familial Infantile Convulsion

Bfic

Bfis

Benign Familial Infantile Convulsions

Familial Benign Neonatal Epilepsy

Watanabe-Vigevano Syndrome

Glut1 Deficiency Syndrome 2

Dystonia 18

Dyt18

Childhood Onset Glut1 Deficiency Syndrome 2

Paroxysmal Exercise-Induced Dystonia

GLUT1DS2

Ped With Or Without Epilepsy And/Or Hemolytic Anemia

Paroxysmal Exertion-Induced Dyskinesia

Ped

Paroxysmal Exercise-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anemia

Paroxysmal Exertion-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic Anemia

Glut1 Deficiency Syndrome 2, Childhood Onset

Dyt-Slc2a1

Dystonia-18

Paroxysmal Exercise-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic Anemia

Paroxysmal Exertion-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anemia

Glut1 Deficiency Syndrome, Type 2, Childhood Onset

Familial Or Sporadic Hemiplegic Migraine
Paroxysmal Choreoathetosis

Paroxysmal Nonkinesigenic Dyskinesia

Infancy Electroclinical Syndrome
Myotonia Congenita

Congenital Myotonia, Autosomal Dominant Form

Congenital Myotonia

Thomsen And Becker Disease

Thomsen Disease

Thomsen'S Disease

Generalized Myotonia Of Thomsen

Congenital Myotonic Muscular Dystrophy

Myotonia Congenita Nos

Athetosis
Migraine With Aura

Classic Migraine

Migraine With Typical Aura

Migraine Accompagnée

Complicated Migraine

Classical Migraine

Acute Migraine With Aura

Chromosome 16p11.2 Duplication Syndrome

Proximal 16p11.2 Microduplication Syndrome

Proximal Dup(16)(P11.2)

Proximal Trisomy 16p11.2

Autism, Susceptibility To, 14b

Autism 14b

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Migraine, Familial Hemiplegic, 2

FHM2

Mhp2

Migraine, Familial Basilar

Familial Hemiplegic Migraine 2

Familial Hemiplegic Migraine-2

Familiar Basilar Migraine

Migraine, Hemiplegic, Familial, Type 2

Developmental And Epileptic Encephalopathy 60

DEE60

Epileptic Encephalopathy, Early Infantile, 60

Eiee60

Developmental And Epileptic Encephalopathy, 60

Early Infantile Epileptic Encephalopathy 60

Chromosome 16p11.2 Deletion Syndrome

Distal 16p11.2 Microdeletion Syndrome

16p11.2 Deletion Syndrome

Del(16)(P11.2)

Microdeletion 16p11.2

Monosomy 16p11.2

Autism, Susceptibility To, 14a

Auts14a

Distal Del(16)(P11.2)

Distal Monosomy 16p11.2

Episodic Kinesigenic Dyskinesia 2

EKD2

Dystonia 19

Dyt19

Migraine, Familial Hemiplegic, 3

FHM3

Familial Hemiplegic Migraine 3

Mhp3

Migraine, Hemiplegic, Familial, Type 3

Partial Motor Epilepsy

Epilepsy, Partial, Motor

Epilepsy, Focal Motor

Focal Motor Seizure

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

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia

Ahc

Alternating Hemiplegia Syndrome

Hemiplegia, Alternating, Of Childhood

Hemiplegia, Crossed

Migraine, Familial Hemiplegic, 1

FHM1

Mhp1

Fhm

Familial Hemiplegic Migraine 1

Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia

Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia

Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia

Migraine, Hemiplegic, Familial, Type 1

Hemiplegic Migraine, Familial Type 1

Advanced Sleep Phase Syndrome, Familial, 2

Advanced Sleep Phase Syndrome 2

FASPS2

Advanced Sleep-Phase Syndrome, Familial, 2

Familial Advanced Sleep Phase Syndrome 2

Sleep Phase Syndrome, Advanced, Familial, Type 2

Familial Hemiplegic Migraine

Hemiplegic Migraine, Familial

Hemiplegic-Ophthalmoplegic Migraine

Fhm

Hemiplegic Migraine Familial

Episodic Ataxia

Isaacs Syndrome

Neuromyotonia

Isaacs' Syndrome

Acquired Neuromyotonia

Continuous Muscle Fiber Activity Syndrome

Quantal Squander Syndrome

Isaacs-Mertens Syndrome

Ea Syndrome

Episodic Ataxia Syndrome

Isaac Syndrome

Isaac'S-Merten'S Syndrome

Isaac-Mertens Syndrome

Peripheral Nerve Hyperexcitability

Ea

Peripheral Nerve Hyperexcitability Syndrome

Ataxia, Episodic

Isaacs Neuromyotonia

Continuous Muscle Fibre Activity

Torticollis

Contracture Of Neck

Wry Neck

Wry Neck/Torticollis

Gastroenteritis

Cholera Morbus

Infectious Colitis, Enteritis And Gastroenteritis

Enteritis Due To Astrovirus

Rotaviral Gastroenteritis

Viral Gastroenteritis Due To Rotavirus

Benign Familial Neonatal Epilepsy

Familial Neonatal Seizures

Bfns

Benign Familial Neonatal Convulsions

Benign Familial Neonatal Seizures

Epilepsy Benign Neonatal Familial

Familial Benign Neonatal Convulsions

Benign Neonatal Familial Convulsions

Familial Benign Neonatal Epilepsy

Epilepsy, Benign Neonatal, 2

Benign Familial Convulsion

Dystonia, Dopa-Responsive

Dystonia 5

Dopa-Responsive Dystonia

DRD

Dyt5

Dystonia-Parkinsonism With Diurnal Fluctuation

Dyt-Th

Hpd With Diurnal Fluctuation

Hereditary Progressive Dystonia With Diurnal Fluctuation

Dystonia, Progressive, With Diurnal Variation

Segawa Syndrome, Autosomal Dominant

Dystonia, Dopa-Responsive, Autosomal Dominant

Dopa-Responsive Dystonia, Autosomal Dominant

Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia

Dyt-Gch1

Dyt-Spr

Dystonia 5, Dopa-Responsive Type

Hereditary Progressive Dystonia With Marked Diurnal Fluctuation

Autosomal Dominant Dopa-Responsive Dystonia

Autosomal Dominant Segawa Syndrome

Dystonia-5

Progressive Dystonia With Diurnal Fluctuation

Dystonia, Type 5, Dopa-Responsive Type

Myotonia
Choreatic Disease

Chorea

Hereditary Chorea

Familial Adenomatous Polyposis 1

Gardner Syndrome

Brain Tumor-Polyposis Syndrome 2

Familial Polyposis Of The Colon

Adenomatous Polyposis Coli

FAP1

Adenomatous Polyposis Of The Colon

Apc

Fpc

Gardner'S Syndrome

Polyposis, Adenomatous Intestinal

Adenoma, Periampullary, Somatic

Intestinal Polyposis, Osteomas, Sebaceous Cysts

Polyposis Coli And Multiple Hard And Soft Tissue Tumors

Apc-Related Attenuated Familial Adenomatous Polyposis

Apc-Related Afap

Apc-Related Attenuated Fap

Apc-Related Attenuated Familial Polyposis Coli

Turcot Syndrome With Polyposis

Gardners Syndrome

Adenomatous Polyposis Coli, Susceptibility To

Adenomatous Polyposis, Familial, Type 1

Spinocerebellar Ataxia 6

Spinocerebellar Ataxia Type 6

SCA6

Type 6 Spinocerebellar Ataxia

Spinocerebellar Ataxia-6

Ataxia, Spinocerebellar, Type 6

Conversion Disorder

Conversion Hysteria Or Reaction

Conversion Hysterical Neurosis

Hysterical Neurosis, Conversion Type

Fnd

Functional Movement Disorder

Functional Neurological Disorder

Dissociative Disorder

Multifocal Dystonia
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome

Doors Syndrome

Digitorenocerebral Syndrome

Autosomal Recessive Deafness-Onychodystrophy Syndrome

Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome

DOORS

Drc Syndrome

Eronen Syndrome

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Brachydactyly Due To Absence Of Distal Phalanges

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome

Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome

Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome

Deafness, Congenital Onychodystrophy, Recessive Form

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Episodic Ataxia, Type 2

Episodic Ataxia Type 2

EA2

Apca

Capa

Cerebellopathy, Hereditary Paroxysmal

Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia

Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive

Episodic Ataxia With Nystagmus

Ataxia, Episodic, With Nystagmus

Episodic Ataxia, Nystagmus-Associated

Ataxia, Familial Paroxysmal

Acetazolamide-Responsive Episodic Ataxia Syndrome

Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia

Ataxia, Familial, Paroxysmal

Nystagmus-Associated Episodic Ataxia

Familial Paroxysmal Ataxia

Episodic Ataxia 2

Ea-2

Episodic Ataxia Nystagmus-Associated

Hereditary Paroxysmal Cerebellopathy

Ataxia, Episodic, Type 2

Episodic Ataxia, Type 8

Episodic Ataxia Type 8

EA8

Episodic Ataxia With Slurred Speech

Neonatal Period Electroclinical Syndrome
Developmental And Epileptic Encephalopathy 11

Epileptic Encephalopathy, Early Infantile, 11

DEE11

Eiee11

Developmental And Epileptic Encephalopathy, 11

Early Infantile Epileptic Encephalopathy 11

Encephalopathy, Developmental And Epileptic, Type 11

Childhood Electroclinical Syndrome
Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus

Movement Disease

Movement Disorders

Movement Disorder

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy

Severe Myoclonic Epilepsy In Infancy

Smei

Epileptic Encephalopathy, Early Infantile, 6

DRVT

Developmental And Epileptic Encephalopathy 6a

Dee6a

Eiee6

Developmental And Epileptic Encephalopathy, 6

Dee6

Developmental And Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Myoclonic Epilepsy, Severe, Of Infancy

Sme

Severe Myoclonus Epilepsy Of Infancy

Borderline Smei

Smeb

Smeb-M

Smeb-O

Smeb-Sw

Smei-Borderland

Smei-Borderland More Than One Feature

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

ICEGTC

Infantile Severe Myoclonic Epilepsy

Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy

Hereditary Ataxia

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Hyperekplexia

Hereditary Hyperekplexia

Kok Disease

Congenital Stiff Man Syndrome

Familial Startle Disease

Sthe

Stiff-Baby Syndrome

Hereditary Hyperexplexia

Startle Disease

Exaggerated Startle Reaction

Hyperexplexia Hereditary

Startle Disease, Familial

Startle Reaction, Exaggerated

Stiff-Man Syndrome, Congenital

Stiff-Person Syndrome, Congenital

Congenital Stiff-Man Syndrome

Congenital Stiff-Person Syndrome

Familial Hyperekplexia

Startle Syndrome

Stiff Baby Syndrome

Hyperekplexia, Hereditary

Stiff-Person Syndrome

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Adnfle

Autosomal Dominant Sleep-Related Hypermotor Epilepsy

Enfl

Benign Familial Infantile Seizures 6

Benign Familial Infantile Seizures, 6

Nocturnal Frontal Lobe Epilepsy-4

Enfl1

Epilepsy, Nocturnal Frontal Lobe, 1

Epilepsy, Nocturnal Frontal Lobe, Type 1

Lennox-Gastaut Syndrome

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs

Early Myoclonic Encephalopathy

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

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
Macaca mulatta PRRT2 VGNC VGNC:97811
Mus musculus PRRT2 MGD MGI:1916267
Rattus norvegicus PRRT2 RGD RGD:1564195