1. Gene
  2. CNTNAP2 - contactin associated protein 2 Gene

CNTNAP2 - contactin associated protein 2 Gene

中文名称:接触素相关蛋白 2

种属: Homo sapiens

同用名: CDFE; NRXN4; AUTS15; CASPR2; PTHSL1

基因 ID: 26047 | 基因类型: protein coding

关于 CNTNAP2

Cytogenetic location: 7q35-q36.1 Genomic coordinates (GRCh38): 7:146,116,801-148,420,998 (from NCBI)

This gene has 24 transcripts (splice variants), 1 gene allele, 298 orthologues, 35 paralogues and is associated with 114 phenotypes. Biased expression in brain (RPKM 12.9), prostate (RPKM 4.1) and 7 other tissues.

功能概要

该基因编码 neurexin 家族的一个成员,该家族在脊椎动物神经系统中作为细胞粘附分子和受体发挥作用。该蛋白与其他神经蛋白一样,包含表皮生长因子重复序列和层粘连蛋白 G 结构域。此外,它还包括 F5/8 C 型结构域、盘状蛋白/神经毡蛋白和纤维蛋白原样结构域、血小板反应蛋白 N 末端样结构域和推定的 PDZ 结合位点。这种蛋白质位于有髓鞘轴突的 juxtaparanodes,并在神经系统发育过程中介导神经元和神经胶质细胞之间的相互作用,并且还参与分化轴突内钾通道的定位。该基因几乎占 7 号染色体的 1.5%,是人类基因组中最大的基因之一。它直接受叉头盒蛋白 P2 的约束和调节,叉头盒蛋白 P2 是一种与言语和语言发育相关的转录因子。该基因与多种神经发育障碍有关,包括图雷特综合征、精神分裂症、癫痫、自闭症、多动症和智力障碍。[RefSeq 提供,2017 年 7 月]

This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability. [provided by RefSeq, Jul 2017]

CNTNAP2 基因产物(1)

mRNA Protein Name
NM_014141.6 NP_054860.1 contactin-associated protein-like 2 precursor
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 enzyme binding IPI
IPI: 通过物理相互作用推断
19166515 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22872700 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in adult behavior IMP
IMP: 通过突变表型推断
18179893 GOA
involved in cell population proliferation IDA
IDA: 通过直接分析推断
29028946 GOA
involved in cerebral cortex development IEP
IEP: 通过表达模式推断
18179893 GOA
involved in learning IMP
IMP: 通过突变表型推断
18179893 GOA
involved in limbic system development IEP
IEP: 通过表达模式推断
18179895 GOA
involved in positive regulation of gap junction assembly IMP
IMP: 通过突变表型推断
33238150 GOA
involved in social behavior IMP
IMP: 通过突变表型推断
18179893 GOA
involved in striatum development IEP
IEP: 通过表达模式推断
18179893 GOA
involved in superior temporal gyrus development IEP
IEP: 通过表达模式推断
18179893 GOA
involved in thalamus development IEP
IEP: 通过表达模式推断
18179893 GOA
involved in vocal learning IMP
IMP: 通过突变表型推断
19896112 GOA
involved in vocalization behavior IMP
IMP: 通过突变表型推断
18179893 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
19166515 GOA
located in axolemma IDA
IDA: 通过直接分析推断
19706678 GOA
located in cell surface IDA
IDA: 通过直接分析推断
19706678 GOA
located in early endosome IDA
IDA: 通过直接分析推断
19706678 GOA
located in membrane IDA
IDA: 通过直接分析推断
10624965 GOA
part of voltage-gated potassium channel complex IDA
IDA: 通过直接分析推断
10624965 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

CNTNAP2 蛋白结构

F5_F8_type_C

F5_F8_type_C: F5/8 type C domain (49 - 178)

Laminin_G_2

Laminin_G_2: Laminin G domain (216 - 344)

Laminin_G_2

Laminin_G_2: Laminin G domain (401 - 529)

EGF

EGF: EGF-like domain (558 - 588)

Laminin_G_2

Laminin_G_2: Laminin G domain (827 - 944)

Laminin_G_2

Laminin_G_2: Laminin G domain (1055 - 1186)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1331 a.a.
蛋白主名 其他名称

contactin-associated protein-like 2

cell recognition molecule Caspr2

关联疾病

疾病名称 别名
Pitt-Hopkins-Like Syndrome 1

Cortical Dysplasia-Focal Epilepsy Syndrome

CDFES

PTHSL1

Cdfe Syndrome

Pitt-Hopkins Like Syndrome 1

Pitt-Hopkins-Like Syndrome-1

Cntnap2-Related Developmental And Epileptic Encephalopathy

Cntnap2-Related Dee

Mesh

D006985

Mesh

D008607

Autism 15

Autism, Susceptibility To, 15

AUTS15

Autism Susceptibility 15

Autism, Susceptibility To, Type 15

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

Gilles De La Tourette Syndrome

Tourette Syndrome

Tourette Disorder

GTS

Ts

Gilles De La Tourette'S Syndrome

Motor-Verbal Tic Disorder

Guinon'S Disease

Psychogenic Tics

Tourette'S Syndrome

Chronic Motor And Vocal Tic Disorder

Td

Tourette'S Disease

Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]

Combined Vocal And Multiple Motor Tic Disorder

Tic De La Tourette

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Pitt-Hopkins Syndrome

PTHS

Encephalopathy, Severe Epileptic, With Autonomic Dysfunction

Mental Retardation, Syndromal, With Intermittent Hyperventilation

Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea

Pitt Hopkins Syndrome

Phs

Encephalopathy Severe Epileptic With Autonomic Dysfunction

Mutism
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Pitt-Hopkins-Like Syndrome
Specific Language Impairment

Language Impairment, Specific

Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

Autoimmune Epilepsy
Speech And Communication Disorders

Language Disorder

Communication Disorder

Language Disorders

Communication Disorders

Speech Language Disorder

Speech-Language Disorder

Communication Impairment

Speech And Language Disorder

La Crosse Encephalitis

California Encephalitis

California Virus Encephalitis

Neuroinvasive California Encephalitis Virus Infection

Californian Encephalitis

Encephalitis, California

California Meningoencephalitis

California Encephalitis Virus Infection

California Encephalitis Virus Infection Neuroinvasive Disease

California Meningoencephalitis Virus Disease

California Serogroup Virus Neuroinvasive Disease

California Viral Encephalitis

Ce - [California Encephalitis]

Lac - [La Crosse Encephalitis]

Stuttering

Stammering

Familial Persistent Stuttering

Stuttering, Familial Persistent 1

Echolalia
Postinfectious Encephalitis

Postinfective Encephalitis

Secondary Encephalitis

Exfoliation Syndrome

Pseudoexfoliation Glaucoma

Pseudoexfoliation Syndrome

Exfoliation Syndrome, Susceptibility To

XFS

Exfoliation Glaucoma

Xfg

Pseudoexfoliation Of The Lens

Pexg

Pexs

Exfoliative Syndrome

Glaucoma Capsulare

Pex

Pseudo-Exfoliation Syndrome

Acute Disseminated Encephalomyelitis

Acute Disseminated Encephalitis

Adem

Ade

Encephalomyelitis Acute Disseminated

Encephalomyelitis, Acute Disseminated

Adem - [Acute Disseminated Encephalomyelitis]

Tic Disorder

Tics

Behavioral Tic

Lingual-Facial-Buccal Dyskinesia

Orofacial Dyskinesia

Oro-Facial Dyskinesia

Dyskinesias

Reading Disorder

Specific Reading Disorder

Reading

Dyslexia

Developmental Reading Disorder

Childhood Disintegrative Disease

Childhood Disintegrative Disorder

Disintegrative Psychosis

Heller'S Syndrome

Symbiotic Psychosis

Dementia Infantilis

Heller Syndrome

Shared Paranoid Disorder

Hypermethioninemia Due To Adenosine Kinase Deficiency

Adk Hypermethioninemia

Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency

Hypermethioninemia Encephalopathy Due To Adk Deficiency

Mrt8

Mental Retardation, Autosomal Recessive 8, Formerly

Mrt8, Formerly

HMAKD

Mental Retardation, Autosomal Recessive 8

Obsessive-Compulsive Disorder

OCD

Obsessive-Compulsive Disorder, Susceptibility To

Anancastic Neurosis

Obsessive Compulsive Disorder

Anankastic Neurosis

Obsessive-Compulsive Neurosis

Obsessive Compulsive Behavior

Encephalitis

Mumps Encephalitis

Mumps Meningoencephalitis

Herpes Simplex Neuroinvasion

Herpetic Encephalitis

Herpetic Encephalopathy

Herpes Simplex Encephalitis, Myelitis Or Encephalomyelitis

Encephalitis Due To Herpesviridae

Encephalitis Due To Herpesvirus

Herpes Encephalitis

Herpesviral Encephalitis

Herpes Simplex Encephalitis

Hsv - [Herpes Simplex Virus] Encephalitis

Herpes Virus Encephalitis

Simian B Disease

Simian B Disorder

Encephalitis Nec

Idiopathic Encephalitis

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

Limbic Encephalitis
Speech Disorder

Speech Disorders

Autoimmune Disease Of Peripheral Nervous System
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Stiff-Person Syndrome

SPS

Stiff-Man Syndrome

Stiff Man Syndrome

Stiff Person Syndrome

Moersch-Woltman Syndrome

Sms

Stiff-Trunk Syndrome

Morsch Woltman Syndrome

Stiff Person Syndrome And Related Disorders

Stiff Person Spectrum Disorder

Classic Stiff Person Syndrome

Classic Sps

Focal Stiff Limb Syndrome

Focal Stiff-Person Syndrome

Stiff Leg Syndrome

Progressive Encephalomyelitis With Rigidity

Chorea Gravidarum
Transverse Myelitis

Myelitis Transverse

Myelitis, Transverse

Transient Tic Disorder
Anterograde Amnesia

Amnesia, Anterograde

Von Economo'S Disease

Encephalitis Lethargica

Von Economo Encephalitis

Von Economo Disease

Amnestic Disorder

Amnesia

Amnestic Syndrome

Korsakoff'S Psychosis Or Syndrome

Amnesic Syndrome

Amnestic Disorder In Conditions Classified Elsewhere

Korsakoff Psychosis Or Syndrome, Nonalcoholic

Nonalcoholic Organic Amnesic Syndrome

Organic Amnesic Syndrome

Thymus Gland Disease

Disease Of Thymus Gland

Miller Fisher Syndrome

Cranial Variant Of Gbs

Fisher'S Syndrome

Miller-Fisher Variant Of Guillain-Barre Syndrome

Miller-Fisher Syndrome

Cranial Variant Of Guillain-Barré Syndrome

Cranial Variant Of Guillain-Barre Syndrome

Fisher Syndrome

Articulation Disorder

Phonological Disorder

Articulation Disorders

Articulation Impairment

Speech Sound Disorders

Autoimmune Neuropathy
Chronic Tic Disorder

Chronic Motor Or Vocal Tic Disorder

Tic Disorders

Tic Disorder

Tic Disorder Nos

Tic Nos

Tic Spasm Nos

Thymus Cancer

Thymic Neoplasm

Thymic Tumor

Thymus Neoplasm

Thymus Neoplasms

Malignant Neoplasm Of Thymus

Neoplasm Of Thymus

Thymic Neoplasms

Thymoma, Familial

Thymic Carcinoma

Thymoma, Type C

Cancer Of Thymus

Malignant Tumour Of Thymus

Primary Malignant Neoplasm Of Thymus

Thymic Glandular Cancer

Thymus Gland Cancer

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

Developmental Coordination Disorder

Motor Skills Disorders

Dissociative Amnesia

Psychogenic Amnesia

Amnesia, Dissociative

Amnesia, Psychogenic

Amnesia Neurosis

Hysterical Fugue

Dissociative Fugue

Pitt-Hopkins-Like Syndrome 2

PTHSL2

Mesh

D006985

Mesh

D008607

Auditory Agnosia
Polyradiculopathy
Learning Disability

Learning Disabilities

Learning Disorders

Academic Skill Disorder

Learning Disorder

Drug Psychosis

Drug-Induced Psychosis

Drug-Induced Psychotic Disorder

Psychoses, Substance-Induced

Psychoses, Drug

Drug-Induced Mental Disorder
Phelan-Mcdermid Syndrome

Chromosome 22q13.3 Deletion Syndrome

22q13.3 Deletion Syndrome

Telomeric 22q13 Monosomy Syndrome

PHMDS

Deletion 22q13 Syndrome

22q13.3 Deletion

Deletion 22q13.3 Syndrome

Monosomy 22q13

Monosomy 22q13.3

22q13 Deletion Syndrome

Monosomy 22q13 Syndrome

22q13 Deletion

Chromosome Deletion

Choreatic Disease

Chorea

Hereditary Chorea

Partial Motor Epilepsy

Epilepsy, Partial, Motor

Epilepsy, Focal Motor

Focal Motor Seizure

Specific Developmental Disorder
Hereditary Spastic Paraplegia 51

Autosomal Dominant Spastic Paraplegia 51

Cpsq4

Spastic Quadriplegic Cerebral Palsy 4

Spg51

Spastic Paraplegia 51, Autosomal Recessive

Epilepsy, Familial Temporal Lobe, 1

ETL1

Adpeaf

Adlte

Epilepsy, Partial, With Auditory Features

Autosomal Dominant Partial Epilepsy With Auditory Features

Epilepsy, Lateral Temporal Lobe, Autosomal Dominant

Familial Temporal Lobe Epilepsy 1

Partial Epilepsy With Auditory Features

Autosomal Dominant Lateral Temporal Lobe Epilepsy

Lateral Temporal Lobe Epilepsy Autosomal Dominant

Epilepsy, Temporal Lobe, Familial, Type 1

Expressive Language Disorder

Developmental Expressive Language Disorder

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

Thymic Carcinoma

Malignant Thymoma

Thymoma, Malignant

Demyelinating Polyneuropathy

Peripheral Demyelinating Neuropathy

Demyelinating Peripheral Neuropathy

Transient Global Amnesia

Amnesia, Transient Global

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Focal Epilepsy

Partial Epilepsy

Epilepsies, Partial

Localisation-Related Epilepsy

Meier-Gorlin Syndrome 2

MGORS2

Meier-Gorlin Syndrome, Type 2

Epilepsy, Idiopathic Generalized 9

Epilepsy, Idiopathic Generalized, Susceptibility To, 9

EIG9

Epilepsy, Juvenile Myoclonic 6

Idiopathic Generalized Epilepsy 9

Epilepsy, Juvenile Myoclonic, Susceptibility To, 6

Susceptibility To Idiopathic Generalized Epilepsy 9

Juvenile Myoclonic Epilepsy 6

EJM6

Susceptibility To Juvenile Myoclonic Epilepsy 6

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 9

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

Gummatous Syphilis
Gallbladder Small Cell Carcinoma

Oat Cell Carcinoma Of The Gallbladder

Gallbladder Small Cell Neuroendocrine Carcinoma

Scoliosis
Dyslexia
Meningovascular Neurosyphilis
Episodic Ataxia, Type 8

Episodic Ataxia Type 8

EA8

Episodic Ataxia With Slurred Speech

Autoimmune Disease Of Central Nervous System
Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria

Polymicrogyria, Bilateral Perisylvian

Pmgx

Perisylvian Syndrome, Congenital Bilateral

Cbps

Congenital Bilateral Perisylvian Syndrome

Perisylvian Syndrome

BPPX

Bpp

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

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

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Movement Disease

Movement Disorders

Movement Disorder

Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome

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

Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

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

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

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
Macaca mulatta CNTNAP2 VGNC VGNC:71174
Mus musculus CNTNAP2 MGD MGI:1914047
Rattus norvegicus CNTNAP2 RGD RGD:1307076
Felis catus CNTNAP2 VGNC VGNC:102028
Others CNTNAP2 NCBI