SETX - senataxin Gene

中文名称：senataxin

种属: Homo sapiens

同用名: ALS4; AOA2; STEX; Sen1; SCAN2; SCAR1; bA479K20.2

基因 ID: 23064 | 基因类型: protein coding

关于 SETX

Cytogenetic location: 9q34.13 Genomic coordinates (GRCh38): 9:132,261,356-132,356,744 (from NCBI)

This gene has 5 transcripts (splice variants), 190 orthologues, 10 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 20.6), testis (RPKM 18.7) and 24 other tissues.

功能概要

该基因编码一种蛋白质，因其与真菌的 Sen1p 蛋白质同源而得名，该蛋白质具有由蛋白质 C 末端的一个结构域编码的 RNA 解旋酶活性。由该基因编码的蛋白质在其 C 末端包含一个 DNA/RNA 解旋酶结构域，这表明它可能参与 DNA 和 RNA 加工。该基因的突变与共济失调眼性失用症 2 (AOA2) 和青少年肌萎缩侧索硬化症 (ALS4) 的常染色体显性遗传形式有关。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]

SETX 基因产物(3)

mRNA	Protein	Name
NM_001351527.2	NP_001338456.1	probable helicase senataxin isoform 1
NM_001351528.2	NP_001338457.1	probable helicase senataxin isoform 2
NM_015046.7	NP_055861.3	probable helicase senataxin isoform 1

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 identical protein binding	IPI IPI: 通过物理相互作用推断	24244371	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	19515850	GOA
enables transcription termination site sequence-specific DNA binding	IDA IDA: 通过直接分析推断	21700224	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IDA IDA: 通过直接分析推断	17562789	GOA
involved in DNA-templated transcription termination	IMP IMP: 通过突变表型推断	26700805	GOA
involved in cellular response to hydrogen peroxide	IDA IDA: 通过直接分析推断	17562789	GOA
involved in cellular response to oxidative stress	IDA IDA: 通过直接分析推断	17562789	GOA
involved in double-strand break repair	IDA IDA: 通过直接分析推断	17562789	GOA
involved in mRNA splice site recognition	IMP IMP: 通过突变表型推断	19515850	GOA
involved in positive regulation of DNA-templated transcription initiation	IMP IMP: 通过突变表型推断	21700224	GOA
involved in positive regulation of RNA splicing	IMP IMP: 通过突变表型推断	19515850	GOA
involved in positive regulation of neuron projection development	IDA IDA: 通过直接分析推断	21576111	GOA
involved in positive regulation of termination of DNA-templated transcription	IMP IMP: 通过突变表型推断	19515850	GOA
involved in positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled	IMP IMP: 通过突变表型推断	21700224	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: 通过突变表型推断	19515850	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in axon	IDA IDA: 通过直接分析推断	21576111	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	17562789	GOA
located in growth cone	IDA IDA: 通过直接分析推断	21576111	GOA
located in nuclear chromosome	IDA IDA: 通过直接分析推断	24105744	GOA
located in nucleoplasm	IDA IDA: 通过直接分析推断	17562789	GOA
located in nucleus	IDA IDA: 通过直接分析推断	17562789	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

SETX 蛋白结构

AAA_11

AAA_12

0
500
1000
1500
2000
2500
2677 a.a.

蛋白主名

其他名称

probable helicase senataxin

SEN1 homolog

SETX 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
Intra	SETX	Q7Z333	USP2	Homo sapiens	O75604-3	Y2H Pooling	32814053
Intra	SETX	Q7Z333	USP2	Homo sapiens	O75604-3	Validated Y2H	32814053
Intra	SETX	Q7Z333	USP2	Homo sapiens	O75604-3	Y2H Array	32814053
Intra	SETX	Q7Z333	SETX	Homo sapiens	Q7Z333	GMS	24244371
Intra	SETX	Q7Z333	POLR2A	Homo sapiens	P24928	Anti Tag CoIP	26700805
Intra	SETX	Q7Z333	SETX	Homo sapiens	Q7Z333	Crosslink	24244371
Intra	SETX	Q7Z333	UBE2I	Homo sapiens	P63279	Y2H Pooling	20936779
Intra	SETX	Q7Z333	SETX	Homo sapiens	Q7Z333	Y2H	24244371

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

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2

Aoa2	Ataxia With Oculomotor Apraxia Type 2
Scar1	SCAN2
Ataxia-Oculomotor Apraxia 2	Ataxia-Ocular Apraxia 2
Ataxia-Oculomotor Apraxia Type 2	Scan 2
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly
Scar1, Formerly	Autosomal Recessive Spinocerebellar Ataxia-1
Spinocerebellar Ataxia, Autosomal Recessive, 1	Ataxia-Ocular Apraxia-2
Spinocerebellar Ataxia, Autosomal Recessive 1

Amyotrophic Lateral Sclerosis 4, Juvenile

Amyotrophic Lateral Sclerosis Type 4	ALS4
Amyotrophic Lateral Sclerosis 4	Dhmn With Upper Motor Neuron Signs
Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs	Neuronopathy, Distal Hereditary Motor, With Pyramidal Features
Als 4	Distal Hereditary Motor Neuropathy With Pyramidal Features
Amyotrophic Lateral Sclerosis Juvenile 4	Neuronopathy Distal Hereditary Motor With Pyramidal Features
Sclerosis, Lateral, Amyotrophic, Type Type 4

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia

Aoa1	Ataxia-Telangiectasia-Like Disorder
EAOH	Eoca-Ha
Ataxia With Oculomotor Apraxia Type 1	Ataxia-Oculomotor Apraxia 1
Ataxia-Oculomotor Apraxia Syndrome	AOA
Ataxia-Telangiectasia-Like Syndrome	Ataxia-Oculomotor Apraxia Type 1
Ataxia With Oculomotor Apraxia	Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia
Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia	Early-Onset Cerebellar Ataxia With Hypoalbuminemia
Adult Onset Ataxia With Oculomotor Apraxia	Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia
Scan2	Scar1
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1
Atld	Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar Ataxia Early-Onset With Hypoalbuminemia	Ataxia-Oculomotor Apraxia
Spinocerebellar Ataxia, Autosomal Recessive 1

Apraxia

Apraxias

Dyspraxia

Lateral Sclerosis

Primary Lateral Sclerosis	Adult-Onset Primary Lateral Sclerosis
Adult-Onset Pls	Motor Neuron Disease
Pls	Pls - [Primary Lateral Sclerosis]
Lateral Spinal Sclerosis	Lateral Complete Paralysis
Lateral Incomplete Paralysis	Lateral Paralysis

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

Oculomotor Apraxia

Friedreich Ataxia

Friedreich Ataxia 1	FRDA
Friedreich Ataxia With Retained Reflexes	Frda1
Fa	Friedreich'S Ataxia
Hereditary Spinal Ataxia	Fa1
Friedreich'S Tabes	Hereditary Spinal Sclerosis
Spinocerebellar Ataxia, Friedreich	Friedreich Spinocerebellar Ataxia
Friedrich'S Ataxia

Frontotemporal Dementia

Pallidopontonigral Degeneration	Frontotemporal Lobar Degeneration
Semantic Dementia	FTD
Frontotemporal Lobe Dementia	Multiple System Tauopathy With Presenile Dementia
Dementia, Frontotemporal	Frontotemporal Dementia With Parkinsonism
Mstd	Frontotemporal Lobar Degeneration With Tau Inclusions
Ftld With Tau Inclusions	Dementia, Frontotemporal, With Parkinsonism
Fldem	Ftdp17
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex	Ddpac
Wilhelmsen-Lynch Disease	Wld
Ppnd	Dementia, Frontotemporal, With Or Without Parkinsonism
Semantic Primary Progressive Aphasia	Semantic Variant Ppa
Wilhemsen-Lynch Disease	Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17	Ftd-Als
Ftld	Pick Complex
Pick Disease Of The Brain	Frontotemporal Dementia With Parkinsonism-17
Grn-Related Frontotemporal Dementia	Frontotemporal Dementia With Motor Neuron Disease
Dementia In Fronto-Temporal Lobar Degeneration	Ftd - [Frontotemporal Dementia]
Temple Dementia	Frontal Lobe Dementia

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Juvenile Amyotrophic Lateral Sclerosis

Jals	Juvenile Charcot Disease
Juvenile Lou Gehrig Disease	Amyotrophic Lateral Sclerosis, Juvenile

Spastic Ataxia

Spax	Ataxia, Spastic

Axonal Neuropathy

Amyotrophic Lateral Sclerosis Type 6

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive	Als6
Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia	Autosomal Recessive Amyotrophic Lateral Sclerosis 6
Sclerosis, Lateral, Amyotrophic, Type Type 6	Amyotrophic Lateral Sclerosis 6

Ataxia-Oculomotor Apraxia 3

Ataxia With Oculomotor Apraxia Type 3	AOA3
Aaxia-Oculomotor Apraxia-3	Ataxia-Oculomotor Apraxia, Type 3

Amyotrophic Lateral Sclerosis 11

Amyotrophic Lateral Sclerosis Type 11	ALS11
Sclerosis, Lateral, Amyotrophic, Type Type 11

Amyotrophic Lateral Sclerosis Type 15

Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia	Als15
Amyotrophic Lateral Sclerosis 15

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis Type 10	ALS10
Amyotrophic Lateral Sclerosis 10, With Or Without Ftd	Frontotemporal Lobar Degeneration, Tardbp-Related
Amyotrophic Lateral Sclerosis 10	Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia
Tardbp-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions	Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia And With Tdp43 Inclusions
Sclerosis, Lateral, Amyotrophic, Type Type 10

Amyotrophic Lateral Sclerosis 8

Amyotrophic Lateral Sclerosis Type 8	ALS8
Sclerosis, Lateral, Amyotrophic, Type Type 8

Spinocerebellar Ataxia 2

Spinocerebellar Ataxia Type 2	SCA2
Amyotrophic Lateral Sclerosis 13	Spinocerebellar Degeneration With Slow Eye Movements
SDSEM	Spinocerebellar Atrophy Ii
Olivopontocerebellar Atrophy Ii	Opca2
Cerebellar Degeneration With Slow Eye Movements	Wadia-Swami Syndrome
Amyotrophic Lateral Sclerosis Type 13	ALS13
Olivopontocerebellar Atrophy Holguin Type	Spinocerebellar Ataxia Cuban Type
Olivopontocerebellar Atrophy, Holguin Type	Spinocerebellar Ataxia, Cuban Type
Amyotrophic Lateral Sclerosis, Susceptibility To, 13	Olivopontocerebellar Atrophy 2
Sca 2	Spinocerebellar Ataxia With Slow Eye Movements
Spinocerebellar Atrophy 2	Wadia Swami Syndrome
Opca Ii	Spinocerebellar Ataxia-2
Ataxia, Spinocerebellar, Type 2

Ceroid Lipofuscinosis, Neuronal, 8

Neuronal Ceroid Lipofuscinosis 8	CLN8
Cln8 Disease	Epilepsy Mental Deterioration Finnish Type
Northern Epilepsy	Cln8 Disease, Epmr
Cln8 Disease, Northern Epilepsy Variant	Cln8 Disease, Late Infantile
Ceroid Lipofuscinosis Neuronal 8	Ncl, Northern Epilepsy Variant
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant	Progressive Epilepsy - Intellectual Disability, Finnish Type
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Turkish Variant Late Infantile Ncl
Ceroid Lipofuscinosis, Neuronal 8	Lipofuscinosis, Ceroid, Neuronal, Type 8
Northern Epilepsy Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 26

SCAR26	Autosomal Recessive Spinocerebellar Ataxia 26
Spinocerebellar Ataxia, Autosomal Recessive, 26

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Amyotrophic Lateral Sclerosis Type 12

Amyotrophic Lateral Sclerosis 12	Als12
Sclerosis, Lateral, Amyotrophic, Type Type 12

Autosomal Recessive Cerebellar Ataxia

Arca

Spastic Ataxia, Charlevoix-Saguenay Type

Charlevoix-Saguenay Spastic Ataxia	Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Arsacs	SACS
Spax6	Spastic Ataxia Charlevoix-Saguenay Type
Spastic Ataxia 6, Autosomal Recessive	Autosomal Recessive Spastic Ataxia Type 6
Spastic Ataxia Of Charlevoix-Saguenay	Atx/Hsp-Sacs
Ataxia, Spastic, Charlevoix-Saguenay Type

Autosomal Dominant Wolfram Syndrome

Spinocerebellar Ataxia Type 1 With Axonal Neuropathy

Scan1	Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy	Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy
Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy	Spinocerebellar Ataxia With Axonal Neuropathy
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy	Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy

Spinocerebellar Ataxia 29

Spinocerebellar Ataxia Type 29	SCA29
Cnpca	Cerebellar Vermis Aplasia
Aplasia Of Cerebellar Vermis	Acv
Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant	Spinocerebellar Ataxia 29, Congenital Nonprogressive
Congenital Nonprogressive Spinocerebellar Ataxia	Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia
Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive	Familial Aplasia Of The Vermis

Ataxia With Vitamin E Deficiency

Ataxia With Isolated Vitamin E Deficiency	AVED
Familial Isolated Vitamin E Deficiency	Friedreich-Like Ataxia
Familial Isolated Deficiency Of Vitamin E	Isolated Vitamin E Deficiency
Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency	Vitamin E Deficiency, Familial Isolated
Ved	Friedreich-Like Ataxia With Selective Vitamin E Deficiency
Five	Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency
Vitamin E Familial Isolated, Deficiency Of	Ataxia Friedreich-Like With Selective Vitamin E Deficiency

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Amyotrophic Lateral Sclerosis 16, Juvenile

Amyotrophic Lateral Sclerosis Type 16	ALS16
Amyotrophic Lateral Sclerosis 16	Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile

Ataxia-Telangiectasia

Ataxia Telangiectasia	Louis-Bar Syndrome
AT	At1
Ataxia-Telangiectasia Syndrome	Ataxia - Telangiectasia Variant
Boder-Sedgwick Syndrome	Louis Bar Syndrome
Cerebello-Oculocutaneous Telangiectasia	Immunodeficiency With Ataxia Telangiectasia
A-T	Ataxia Telangiectasia Syndrome
Atm	Telangiectasia, Cerebello-Oculocutaneous
Ataxia-Telangiectasia Variant

Cerebral Palsy, Ataxic, Autosomal Recessive

Ataxic Cerebral Palsy	Acp
Hypotonic Cerebral Palsy	Cerebral Palsy Ataxic
Cerebral Palsy, Atonic	Congenital Cerebral Palsy With Ataxia
Ataxic Cerebral Paralysis	Ataxia With Cerebral Palsy
Cerebral Infantile Diataxia

Spinocerebellar Ataxia, Autosomal Recessive 27

SCAR27	Autosomal Recessive Spinocerebellar Ataxia 27
Spinocerebellar Ataxia, Autosomal Recessive, 27

Motor Peripheral Neuropathy

Motor Neuritis	Peripheral Motor Neuropathy
Hereditary Motor And Sensory Neuropathy	Hsmn
Hsmn - Hereditary Sensory And Motor Neuropathy	Neuropathic Muscular Atrophy
Hereditary Sensory And Motor Neuropathy	Hereditary Motor And Sensory Neuropathies

Amyotrophic Lateral Sclerosis 21

Amyotrophic Lateral Sclerosis Type 21	ALS21
Multisystem Proteinopathy 5	Msp5
Distal Myopathy With Vocal Cord Weakness	Vcpdm
Myopathy, Distal, 2, Formerly	Mpd2, Formerly
Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy, Formerly	Vcpdm, Formerly
Vocal Cord And Pharyngeal Distal Myopathy	Matr3-Related Distal Myopathy
Distal Myopathy 2	Mpd2
Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy	Sclerosis, Lateral, Amyotrophic, Type 21
Myopathy, Distal 2

Coenzyme Q10 Deficiency, Primary, 4

Scar9	Spinocerebellar Ataxia, Autosomal Recessive 9
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	COQ10D4
Arca2	Autosomal Recessive Cerebellar Ataxia Type 2
Primary Coenzyme Q10 Deficiency 4	Autosomal Recessive Ataxia Due To Coenzyme Q10 Deficiency
Autosomal Recessive Spinocerebellar Ataxia Type 9	Autosomal Recessive Spinocerebellar Ataxia 9
Spinocerebellar Ataxia Autosomal Recessive 9	Coenzyme Q10 Deficiency, Primary, Type 4
Ataxia, Spinocerebellar, Autosomal Recessive, Type 9

Spinal Muscular Atrophy With Lower Extremity Predominant

Spinal Muscular Atrophy With Lower Extremity Predominance	Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures
Kugelberg-Welander Syndrome, Autosomal Dominant	Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures
Sma-Led	Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant	Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant
Spinal Muscular Atrophy, Lower Extremity, Dominant

Amyotrophic Lateral Sclerosis 18

Amyotrophic Lateral Sclerosis Type 18	ALS18
Sclerosis, Lateral, Amyotrophic, Type 18

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Smard1	DSMA1
Sianrf	Dhmn6
Spinal Muscular Atrophy With Respiratory Distress 1	HMN6
Severe Infantile Axonal Neuropathy With Respiratory Failure	Autosomal Recessive Distal Spinal Muscular Atrophy 1
Diaphragmatic Spinal Muscular Atrophy	Spinal Muscular Atrophy With Respiratory Distress Type 1
Neuronopathy, Distal Hereditary Motor, Type Vi	Hmn Vi
Neuronopathy, Severe Infantile Axonal, With Respiratory Failure	Distal Spinal Muscular Atrophy 1
Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress	Distal Hereditary Motor Neuropathy Type 6
Distal-Hmn Type 6	Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1
Spinal Muscular Atrophy, Diaphragmatic	Distal Hereditary Motor Neuronopathy Type Vi
Distal Spinal Muscular Atrophy Type 1	Hmnvi
Spinal Muscular Atrophy With Respiratory Distress	Autosomal Recessive Distal Spinal Muscular Atrophy Type 1
Neuronopathy, Distal Hereditary Motor, 6	Dhmn Vi
Distal Hereditary Motor Neuropathy Type Vi	Severe Infantile Axonal Neuronopathy With Respiratory Failure
Spinal Muscular Atrophy Distal Autosomal Recessive 1	Atrophy, Muscular, Spinal, Distal, Type 1

Amyotrophic Lateral Sclerosis Type 14

Als14	Amyotrophic Lateral Sclerosis 14
Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia

Hereditary Ataxia

Sca	Spinocerebellar Ataxia
Ataxias Hereditary	Ataxias, Hereditary

Autosomal Recessive Distal Hereditary Motor Neuronopathy

Autosomal Recessive Distal Spinal Muscular Atrophy

Spinocerebellar Ataxia, Autosomal Recessive 8

Arca1	Autosomal Recessive Cerebellar Ataxia Type 1
SCAR8	Autosomal Recessive Spinocerebellar Ataxia 8
Autosomal Recessive Ataxia, Beauce Type	Recessive Ataxia Of Beauce
Syne1-Related Autosomal Recessive Cerebellar Ataxia	Ataxia, Recessive, Of Beauce
Cerebellar Ataxia, Autosomal Recessive, Type 1	Spinocerebellar Ataxia Autosomal Recessive 8
Autosomal Recessive Ataxia Beauce Type	Spinocerebellar Ataxia, Autosomal Recessive, 8
Ataxia Recessive Of Beauce	Ataxia, Spinocerebellar, Autosomal Recessive, Type 8

Distal Hereditary Motor Neuronopathy Type 7

Dhmn7	Dhmnvpy
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Progressive Bulbar Palsy

Bulbar Palsy, Progressive	Progressive Bulbar Atrophy
Bulbar Palsy	Pbp - [Progressive Bulbar Palsy]
Progressive Bulbar Paralysis	Bulbar Paralysis
Chronic Bulbar Palsy	Chronic Bulbar Paralysis
Supranuclear Bulbar Paralysis

Spastic Paraplegia 7, Autosomal Recessive

SPG7	Hereditary Spastic Paraplegia 7
Spastic Paraplegia Type 7	Spastic Paraplegia 7
Hereditary Spastic Paraplegia, Paraplegin Type	Autosomal Recessive Spastic Paraplegia 7
Hereditary Spastic Paraplegia Paraplegin Type	Spastic Paraplegia-7
Paraplegia, Spastic, Autosomal Recessive, Type 7	Spastic Paraplegia, Hereditary
Autosomal Recessive Hereditary Spastic Paraplegia

Progressive Muscular Atrophy

Progressive Spinal Muscular Atrophy	Pure Progressive Muscular Atrophy
Pma	Hereditary Spinal Muscle Atrophy
Pma - [Progressive Muscular Atrophy]	Progressive Muscle Atrophy
Progressive Spinal Muscle Atrophy	Duchenne-Aran Atrophy
Duchenne-Aran Muscle Atrophy	Hereditary Sma - [Spinal Muscle Atrophy]

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1	Frontotemporal Dementia And/Or Motor Neuron Disease
Ftdmnd	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia
Alsftd	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1	Frontotemporal Dementia With Motor Neuron Disease
Ftdals	Ftd-Als
Ftd-Mnd	Frontotemporal Dementia With Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1
Frontotemporal Lobar Degeneration	Grn-Related Frontotemporal Dementia

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Choreatic Disease

Chorea

Hereditary Chorea

Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis

SANDO	Mitochondrial Recessive Ataxia Syndrome
Spinocerebellar Ataxia With Epilepsy	Epilepsy, Progressive Myoclonic 5
Epm5	Miras
SCAE	Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions	Progressive Myoclonic Epilepsy Type 5
Pme Type 5	Progressive Myoclonus Epilepsy Type 5
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Recessive Mitochondrial Ataxia Syndrome
Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis	Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
Mscae	Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy	Epilepsy, Progressive Myoclonic, 5
Ataxia Neuropathy Spectrum

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1	SCA1
Olivopontocerebellar Atrophy I	Opca1
Opca4	Menzel Type Opca
Schut-Haymaker Type Opca	Spinocerebellar Atrophy I
Opca I	Olivopontocerebellar Atrophy Iv
Opca Iv	Cerebelloparenchymal Disorder I
Cpd1	Olivopontocerebellar Atrophy 1
Cerebelloparenchymal Disorder 1	Olivopontocerebellar Atrophy 4
Spinocerebellar Atrophy 1	Type 1 Spinocerebellar Ataxia
Spinocerebellar Ataxia-1	Ataxia, Spinocerebellar, Type 1

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

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

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome	Cree Encephalitis
Aicardi-Goutières Syndrome	Encephalopathy With Basal Ganglia Calcification
Ags	Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid
Pseudotoxoplasmosis Syndrome	Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis
Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis	Aicardi-Goutieres Syndrome 1

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

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

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	SETX	VGNC	VGNC:46062
Macaca mulatta	SETX	VGNC	VGNC:77356
Mus musculus	SETX	MGD	MGI:2443480
Bos taurus	SETX	VGNC	VGNC:34501
Felis catus	SETX	VGNC	VGNC:67403
Rattus norvegicus	SETX	RGD	RGD:1565575

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