1. Gene
  2. PSEN1 - presenilin 1 Gene

PSEN1 - presenilin 1 Gene

中文名称:早老素 1

种属: Homo sapiens

同用名: AD3; FAD; PS1; PS-1; S182; PSNL1; ACNINV3

基因 ID: 5663 | 基因类型: protein coding

关于 PSEN1

Cytogenetic location: 14q24.2 Genomic coordinates (GRCh38): 14:73,136,417-73,223,691 (from NCBI)

This gene has 88 transcripts (splice variants), 202 orthologues, 1 paralogue and is associated with 11 phenotypes. Ubiquitous expression in colon (RPKM 14.6), small intestine (RPKM 14.0) and 25 other tissues.

功能概要

患有遗传性阿尔茨海默氏病 (AD) 的患者在早老素蛋白 (PSEN1; PSEN2) 或淀粉样前体蛋白 (APP) 中携带突变。这些与疾病相关的突变导致较长形式的淀粉样蛋白-β (AD 大脑中淀粉样蛋白沉积物的主要成分) 的产生增加。早老素被假定通过它们对γ-分泌酶的影响来调节 APP 加工,γ-分泌酶是一种裂解 APP 的酶。此外,据认为早老素参与 Notch 受体的裂解,因此它们要么直接调节 γ-分泌酶活性,要么本身就是蛋白酶。已经为该基因鉴定了几种编码不同同种型的可变剪接转录物变体,仅确定了其中一些的全长性质。[RefSeq 提供,2008 年 8 月]

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an Enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease Enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]

PSEN1 基因产物(2)

mRNA Protein Name
NM_000021.4 NP_000012.1 presenilin-1 isoform I-467
NM_007318.3 NP_015557.2 presenilin-1 isoform I-463
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 ATPase binding IPI
IPI: 通过物理相互作用推断
26094765 GOA
enables PDZ domain binding IPI
IPI: 通过物理相互作用推断
10551805 GOA
enables aspartic endopeptidase activity, intramembrane cleaving IDA
IDA: 通过直接分析推断
26280335 GOA
enables aspartic endopeptidase activity, intramembrane cleaving IMP
IMP: 通过突变表型推断
17428795 GOA
enables beta-catenin binding IPI
IPI: 通过物理相互作用推断
9632714 GOA
enables calcium channel activity IMP
IMP: 通过突变表型推断
16959576 GOA
enables endopeptidase activity IDA
IDA: 通过直接分析推断
8755489 GOA
enables endopeptidase activity IGI
IGI: 通过遗传相互作用推断
12763021 GOA
enables endopeptidase activity IMP
IMP: 通过突变表型推断
12297508 GOA
enables growth factor receptor binding IPI
IPI: 通过物理相互作用推断
26094765 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9223340 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
25542424 GOA
involved in Notch receptor processing IDA
IDA: 通过直接分析推断
27608597 GOA
involved in amyloid precursor protein catabolic process IDA
IDA: 通过直接分析推断
27608597 GOA
involved in amyloid precursor protein catabolic process IGI
IGI: 通过遗传相互作用推断
12763021 GOA
involved in amyloid precursor protein catabolic process IMP
IMP: 通过突变表型推断
12297508 GOA
involved in amyloid precursor protein metabolic process IDA
IDA: 通过直接分析推断
26280335 GOA
involved in amyloid-beta formation IDA
IDA: 通过直接分析推断
27608597 GOA
involved in amyloid-beta formation IGI
IGI: 通过遗传相互作用推断
12763021 GOA
involved in amyloid-beta formation IMP
IMP: 通过突变表型推断
12297508 GOA
involved in astrocyte activation IGI
IGI: 通过遗传相互作用推断
20445063 GOA
involved in astrocyte activation involved in immune response IGI
IGI: 通过遗传相互作用推断
23152628 GOA
acts upstream of or within cell-cell adhesion IMP
IMP: 通过突变表型推断
11953314 GOA
involved in cellular response to amyloid-beta IGI
IGI: 通过遗传相互作用推断
23152628 GOA
acts upstream of or within endoplasmic reticulum calcium ion homeostasis IDA
IDA: 通过直接分析推断
17431506 GOA
involved in endoplasmic reticulum calcium ion homeostasis IGI
IGI: 通过遗传相互作用推断
16959576 GOA
involved in endoplasmic reticulum calcium ion homeostasis IMP
IMP: 通过突变表型推断
25394380 GOA
involved in learning or memory IGI
IGI: 通过遗传相互作用推断
24012003 GOA
involved in membrane protein ectodomain proteolysis IDA
IDA: 通过直接分析推断
15274632 GOA
involved in memory IGI
IGI: 通过遗传相互作用推断
11880515 GOA
involved in negative regulation of apoptotic process IDA
IDA: 通过直接分析推断
10805794 GOA
involved in negative regulation of apoptotic process IMP
IMP: 通过突变表型推断
10508860 GOA
involved in negative regulation of core promoter binding IMP
IMP: 通过突变表型推断
10508860 GOA
involved in negative regulation of gene expression IGI
IGI: 通过遗传相互作用推断
28008308 GOA
NOT involved in negative regulation of low-density lipoprotein receptor activity IGI
IGI: 通过遗传相互作用推断
20005821 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
10508860 GOA
involved in neuron projection maintenance IGI
IGI: 通过遗传相互作用推断
20445063 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
23794287 GOA
involved in positive regulation of amyloid fibril formation IGI
IGI: 通过遗传相互作用推断
11880515 GOA
involved in positive regulation of dendritic spine development IMP
IMP: 通过突变表型推断
21951279 GOA
involved in positive regulation of gene expression IGI
IGI: 通过遗传相互作用推断
28008308 GOA
involved in positive regulation of glycolytic process IGI
IGI: 通过遗传相互作用推断
29061364 GOA
involved in positive regulation of protein import into nucleus IMP
IMP: 通过突变表型推断
10508860 GOA
involved in positive regulation of tumor necrosis factor production IGI
IGI: 通过遗传相互作用推断
29061364 GOA
involved in protein processing IDA
IDA: 通过直接分析推断
15274632 GOA
involved in protein processing IGI
IGI: 通过遗传相互作用推断
12763021 GOA
involved in protein processing IMP
IMP: 通过突变表型推断
12297508 GOA
involved in regulation of gene expression IGI
IGI: 通过遗传相互作用推断
26200696 GOA
involved in regulation of neuron projection development IMP
IMP: 通过突变表型推断
15004326 GOA
involved in regulation of phosphorylation IDA
IDA: 通过直接分析推断
9689133 GOA
involved in synapse organization IGI
IGI: 通过遗传相互作用推断
24012003 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
9246482 GOA
located in aggresome IDA
IDA: 通过直接分析推断
21143716 GOA
located in centrosome IDA
IDA: 通过直接分析推断
9298903 GOA
is active in dendrite IDA
IDA: 通过直接分析推断
24012003 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
9246482 GOA
part of gamma-secretase complex IDA
IDA: 通过直接分析推断
10801983 GOA
part of gamma-secretase complex IGI
IGI: 通过遗传相互作用推断
12763021 GOA
located in growth cone IDA
IDA: 通过直接分析推断
15004326 GOA
located in kinetochore IDA
IDA: 通过直接分析推断
9298903 GOA
located in membrane IDA
IDA: 通过直接分析推断
22375059 GOA
located in membrane raft IDA
IDA: 通过直接分析推断
20299451 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
12377771 GOA
located in neuron projection IDA
IDA: 通过直接分析推断
15004326 GOA
located in nuclear membrane IDA
IDA: 通过直接分析推断
9298903 GOA
located in nuclear outer membrane IDA
IDA: 通过直接分析推断
9246482 GOA
located in nucleus IMP
IMP: 通过突变表型推断
10508860 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
15274632 GOA
part of protein-containing complex IMP
IMP: 通过突变表型推断
10508860 GOA
located in rough endoplasmic reticulum IDA
IDA: 通过直接分析推断
9632714 GOA
colocalizes with smooth endoplasmic reticulum IDA
IDA: 通过直接分析推断
10508860 GOA
located in smooth endoplasmic reticulum IDA
IDA: 通过直接分析推断
9632714 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

PSEN1 蛋白结构

Presenilin

Presenilin: Presenilin (71 - 458)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 467 a.a.
蛋白主名 其他名称

presenilin-1

familial Alzheimer Disease

PSEN1 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 PSEN1 P49768 TMBIM6 Homo sapiens P55061
GMS
30559186
Intra PSEN1 P49768 TMBIM6 Homo sapiens P55061
Anti Tag CoIP
30559186
Intra PSEN1 P49768 TMBIM6 Homo sapiens P55061
Pull Down
30559186
Intra PSEN1 P49768 TMBIM6 Homo sapiens P55061
EM
30559186
Intra PSEN1 P49768 TMBIM6 Homo sapiens P55061
Confocal
30559186
Intra PSEN1 P49768 TREM2 Homo sapiens Q9NZC2
Anti Bait CoIP
29611543
Intra PSEN1 P49768 BACE1 Homo sapiens P56817
Pull Down
12901838
Intra PSEN1 P49768 BACE1 Homo sapiens P56817
Anti Tag CoIP
12901838
Intra PSEN1 P49768 BACE1 Homo sapiens P56817
Y2H
12901838
Intra PSEN1 P49768 BACE1 Homo sapiens P56817
IF
12901838
Intra PSEN1 P49768 BACE1 Homo sapiens P56817
Anti Bait CoIP
12901838
Intra PSEN1 P49768 APH1A Homo sapiens Q96BI3
Anti Tag CoIP
30559186
Intra PSEN1 P49768 APH1A Homo sapiens Q96BI3
Anti Bait CoIP
25394380
Intra PSEN1 P49768 CDC37 Homo sapiens Q16543
Anti Bait CoIP
21163940
Intra PSEN1 P49768 APP Homo sapiens P05067-4
Protease Assay
21115843
Intra PSEN1 P49768 APP Homo sapiens P05067-4
Anti Bait CoIP
11083918
Intra PSEN1 P49768 ST13 Homo sapiens P50502
Y2H
21163940
Intra PSEN1 P49768 APBA1 Homo sapiens Q02410
Anti Bait CoIP
11083918
Intra PSEN1 P49768 APBA1 Homo sapiens Q02410
Pull Down
11083918
Intra PSEN1 P49768 APBA1 Homo sapiens Q02410
Anti Tag CoIP
11083918
Intra PSEN1 P49768 APBA1 Homo sapiens Q02410
Pull Down
16007100
Intra PSEN1 P49768 ECSIT Homo sapiens Q9BQ95
Anti Bait CoIP
21163940
Intra PSEN1 P49768 APP Homo sapiens P05067
Y2H Array
21163940
Intra PSEN1 P49768 APP Homo sapiens P05067
Anti Bait CoIP
21163940
Intra PSEN1 P49768 APP Homo sapiens P05067
Anti Bait CoIP
9223340
Cross PSEN1 P49768 Apba2 Mus musculus P98084
Anti Bait CoIP
11083918
Cross PSEN1 P49768 Apba2 Mus musculus P98084
Anti Tag CoIP
11083918
Intra PSEN1 P49768 TMED10 Homo sapiens P49755
Anti Tag CoIP
25959826
Intra PSEN1 P49768 NCSTN Homo sapiens Q92542
Anti Bait CoIP
29611543
Intra PSEN1 P49768 NCSTN Homo sapiens Q92542
Anti Bait CoIP
18201567
Intra PSEN1 P49768 NCSTN Homo sapiens Q92542
Anti Tag CoIP
30559186
Intra PSEN1 P49768 PSENEN Homo sapiens Q9NZ42
Anti Tag CoIP
30559186
Intra PSEN1 P49768 PSENEN Homo sapiens Q9NZ42
Anti Bait CoIP
15322109
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
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

Pick Disease Of Brain

Pick Disease

Pick'S Disease

Pick Disease Of The Brain

Lobar Atrophy Of Brain

Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

Behavioral Variant Of Frontotemporal Dementia

Dementia In Pick'S Disease

Lobar Atrophy Of The Brain

Bvftd

Bv-Ftd

PIDB

Picks Disease

Alzheimer Disease 3

AD3

Alzheimer Disease, Type 3

Alzheimer Disease, Type 3, With Spastic Paraparesis And Apraxia

Alzheimer Disease, Type 3, With Spastic Paraparesis And Unusual Plaques

Alzheimer'S Disease 3

Alzheimer Disease, Familial, 3, With Spastic Paraparesis And Apraxia

Alzheimer Disease 3, Early-Onset

Alzheimer Disease, Familial, 3

Alzheimer Disease, Protection Against, Due To Apoe3-Christchurch

Alzheimer Disease 3, Early Onset

Alzheimer Disease Familial 3

Early-Onset Familial Alzheimer Disease 3

Familial Alzheimer Disease 3

Familial Alzheimer Disease 3 With Spastic Paraparesis And Apraxia

Familial Alzheimer Disease 3 With Spastic Paraparesis And Unusual Plaques

Alzheimer Disease, Familial, 3, With Spastic Paraparesis And Unusual Plaques

Alzheimer Disease, Familial, Type 3

Cardiomyopathy, Dilated, 1u

CMD1U

Dilated Cardiomyopathy 1u

Cardiomyopathy, Dilated 1u

Acne Inversa, Familial, 3

ACNINV3

Acne Inversa Familial

Hidradenitis Suppurativa Familial

Acne Inversa, Familial, Type 3

Early-Onset, Autosomal Dominant Alzheimer Disease

Familial Alzheimer Disease

Early-Onset Autosomal Dominant Alzheimer Disease

Eofad

Early-Onset Familial Autosomal Dominant Alzheimer Disease

Alzheimer'S Disease, Familial

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Progressive Non-Fluent Aphasia

Non-Fluent Variant Ppa

Progressive Nonfluent Aphasia

Non-Fluent Primary Progressive Aphasia

Agramatic Variant Of Ppa

Agramatic Variant Of Primary Progressive Aphasia

Primary Progressive Non Fluent Aphasia

Primary Progressive Nonfluent Aphasia

Alzheimer Disease 4

AD4

Alzheimer Disease-4

Alzheimer'S Disease 4

Alzheimer Disease, Familial, 4

Alzheimer Disease, Familial4

Alzheimer'S Disease 4, Early Onset

Alzheimer Disease, Type 4

Spastic Paraparesis
Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Aphasia
Acne

Acne Vulgaris

Acne Varioliformis

Frontalis Acne

Cerebral Amyloid Angiopathy, Cst3-Related

Cerebral Amyloid Angiopathy

Hereditary Cerebral Hemorrhage With Amyloidosis

Hchwa

Hereditary Cystatin C Amyloid Angiopathy

Cerebral Amyloid Angiopathy, Familial

Amyloidosis, Cerebroarterial, Icelandic Type

Amyloidosis Vi

Cerebral Hemorrhage, Hereditary, With Amyloidosis

Cst3-Related Cerebral Amyloid Angiopathy

Cerebral Hemorrhage, Hereditary, With Amyloidosis, Icelandic Variant

Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Variant

Caa, Familial

Cerebral Amyloid Angiopathy, Genetic

Acys Amyloidosis

Cst3-Related Amyloidosis

Cystatin Amyloidosis

Hchwa, Icelandic Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Type

Amyloidosis 6

AMYL6

Acys

Caa

Cerebral Amyloid Angiopathy Cst3-Related

Cerebroarterial Amyloidosis Icelandic Type

Cystatin C Amyloidosis

Hccaa

Hchwai

Hchwa-I

Hereditary Cerebral Hemorrhage With Amyloidosis Icelandic Type

Cerebral Amyloid Angiopathy Familial

Angiopathy, Amyloid, Cerebral, Cst3-Related

Hereditary Cerebral Amyloid Angiopathy, Icelandic Type

Familial Cerebral Amyloid Angiopathy

Cerebral Amyloid Angiopathy, Hereditary

Apraxia

Apraxias

Dyspraxia

Amyloidosis

Amyloid Disease

Amyloid

Amyloid Degeneration

Amyloidosis Nos

Amyloid Deposition

Amyloid Infiltration

Idiopathic Amyloidosis

Hyaloid Degeneration

Lardaceous Degeneration

Vascular Dementia

Dementia, Vascular

Multi Infarct Dementia

Multifocal Dementia

Dementia Vascular

Vascular Dementia, Susceptibility To

Dementia, Multi-Infarct

Multi-Infarct Dementia

Visual Agnosia

Primary Visual Agnosia

Myositis

Idiopathic Inflammatory Myopathy

Idiopathic Inflammatory Myositis

Iim

Imm

Idiopathic Inflammatory Myopathies

Myopathy, Familial Idiopathic Inflammatory

Inflammatory Disorder Of Muscle

Idiopathic Inflammatory Myopathy, Familial

Inflammatory Myopathy, Idiopathic

Myopathies Idiopathic Inflammatory

Familial Idiopathic Inflammatory Myopathy

Hidradenitis Suppurativa

Acne Inversa

Suppurative Hidradenitis

Acne Inversa, Familial

Apocrinitis

Hidradenitides, Suppurative

Hidradenitis, Suppurative

Suppurative Hidradenitides

Inverse Acne

Inclusion Body Myositis

Ibm

Sporadic Inclusion Body Myositis

Inflammatory Myopathy

Myositis, Inclusion Body

Inflammatory Myopathies

Sibm

Myositis Inclusion Body

Nonaka Myopathy

Inclusion Body Myopathy, Autosomal Recessive

Inclusion Body Myopathy, Autosomal Dominant

Myositis

Inclusion Body Myopathy, Sporadic

Hidradenitis

Hydradenitis

Cerebral Amyloid Angiopathy, App-Related

Hchwad

Amyloidosis, Cerebroarterial, App-Related

Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant

Cerebral Amyloid Angiopathy, App-Related, Dutch Variant

Cerebral Amyloid Angiopathy, App-Related, Iowa Variant

Cerebral Amyloid Angiopathy, App-Related, Italian Variant

Cerebral Amyloid Angiopathy, App-Related, Flemish Variant

Cerebral Amyloid Angiopathy, App-Related, Arctic Variant

Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants

App-Related Cerebral Amyloid Angiopathy

Abetaa21g Amyloidosis

Abeta Amyloidosis, Italian Type

Abeta Amyloidosis, Arctic Type

Abeta Amyloidosis, Iowa Type

Abeta Amyloidosis, Dutch Type

Hchwa-D

Abeta Amyloidosis, Flemish Type

Abetaa21g-Related Amyloidosis

Hchwa, Flemish Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Flemish Type

Abetae22k Amyloidosis

Hchwa, Italian Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Italian Type

Abetae22g Amyloidosis

Hchwa, Arctic Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Arctic Type

Abetad23n Amyloidosis

Hchwa, Iowa Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Iowa Type

Abetal34v Amyloidosis

Abeta Amyloidosis, Piedmont Type

Abetal34v-Related Amyloidosis

Hchwa, Piedmont Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Piedmont Type

Abetae22q Amyloidosis

Hchwa, Dutch Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Dutch Type

CAA-APP

Amyloidosis Cerebroarterial App-Related

Amyloidosis Hereditary With Cerebral Hemorrhage Dutch Variant

Cerebral Amyloid Angiopathy App-Related Arctic Variant

Cerebral Amyloid Angiopathy App-Related Dutch Variant

Cerebral Amyloid Angiopathy App-Related Flemish Variant

Cerebral Amyloid Angiopathy App-Related Iowa Variant

Cerebral Amyloid Angiopathy App-Related Italian Variant

Familial Occipital Calcifications With Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia

Fochs-Ladd

Hereditary Cerebral Amyloid Angiopathy Dutch Type

Hereditary Cerebral Hemorrhage With Amyloidosis Dutch Type

Hereditary Cerebral Hemorrhage With Amyloidosis Italian Type

Cerebral Hemorrhage With Amyloidosis, Hereditary, Dutch Type

Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

Mild Cognitive Impairment
Speech And Communication Disorders

Language Disorder

Communication Disorder

Language Disorders

Communication Disorders

Speech Language Disorder

Speech-Language Disorder

Communication Impairment

Speech And Language Disorder

Parkinsonism

Parkinsonism-Plus

Idiopathic Parkinsonism

Primary Parkinsonism

Paralysis Agitans Syndrome

Parkinsonian Syndrome

Trembling Paralysis

Paralysis Agitans

Shaking Palsy

Shaking Paralysis

Subjective Cognitive Decline
Simultanagnosia
Gerstmann Syndrome

Aphasia-Angular Gyrus Syndrome

Developmental Gerstmann Syndrome

Gs

Gerstmann Badal Syndrome

Gerstmann Tetrad

Gerstmann'S Syndrome

Developmental Gerstmann'S Syndrome

Anosognosia
Ideomotor Apraxia

Apraxia, Ideomotor

Classic Apraxia

Ideomotor Dyspraxia

Limb-Kinetic Apraxia

Transcortical Apraxia

Gerstmann-Straussler Disease

Gerstmann-Straussler-Scheinker Disease

Gerstmann-Straussler-Scheinker Syndrome

Prion Dementia

Cerebral Amyloid Angiopathy, Prnp-Related

GSD

Gss

Cerebellar Ataxia, Progressive Dementia, And Amyloid Deposits In Cns

Amyloidosis, Cerebral, With Spongiform Encephalopathy

Subacute Spongiform Encephalopathy, Gerstmann-Straussler Type

Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type

Amyloidosis Cerebral With Spongiform Encephalopathy

Cerebellar Ataxia, Progressive Dementia, And Amyloid Deposits In The Central Nervous System

Encephalopathy Subacute Spongiform Gerstmann-Straussler Type

Gssd

Gerstmann Straussler Scheinker Syndrome

Cerebral Amyloidosis With Spongiform Encephalopathy

Subacute Spongiform Encephalopathy Gerstmann-Straussler Type

Gluthathione Synthetase Deficiency

Gerstmann Straussler Syndrome

Chromosomal Duplication Syndrome
Nominal Aphasia

Anomia

Anomic Aphasia

Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Dementia, Familial British

Fbd

Presenile Dementia With Spastic Ataxia

Familial British Dementia

Abri Amyloidosis

Cerebral Amyloid Angiopathy, British Type

Itm2b-Related Cerebral Amyloid Angiopathy 1

Familial Dementia, British Type

Cerebral Amyloid Angiopathy, Itm2b-Related 1

CAA-ITM2B1

Cerebral Amyloid Angiopathy British Type

Dementia, Familial, British

Alexia

Dyslexia

Dyslexia, Acquired

Acquired Dyslexia

Aphemesthaesia

Prion Disease

Spongiform Encephalopathy

Transmissible Spongiform Encephalopathies

Prion Diseases

Prion Disease Pathway

Transmissible Spongiform Encephalopathy

Prion Induced Disorder

Prion Protein Disease

Inherited Human Transmissible Spongiform Encephalopathies

Prion Protein Diseases

Prion-Associated Disorders

Prion-Induced Disorders

Transmissible Dementias

Tses

Human Prion Disease

Tse

Encephalopathy, Transmissible Spongiform

Prion Disease, Susceptibility To

Spongiform Encephalopathies

Human Transmissible Spongiform Encephalopathies, Inherited

Creutzfeldt-Jakob Disease

Variant Creutzfeldt-Jakob Disease

CJD

Bovine Spongiform Encephalopathy

Vcjd

Inherited Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob Disease, Familial

Creutzfeldt Jakob Disease

Creutzfeldt-Jacob Disease

Creutzfeldt Jacob Disease

Sporadic Creutzfeldt-Jakob Disease

Encephalopathy, Bovine Spongiform

Creutzfeldt-Jakob Disease, Variant, Resistance To

Creutzfeldt-Jakob Disease, Variant

Creutzfeldt Jacob Syndrome

Jakob-Creutzfeldt Disease

Subacute Spongiform Encephalopathy

Transmissible Virus Dementia

New Variant Of Cjd

Nv-Cjd

Variant Cjd

Variant Creutzfeldt-Jacob Disease

Sporadic Cjd

Inherited Cjd

Acquired Creutzfeldt-Jakob Disease

Variant Mcj

Encephalopathy Bovine Spongiform

Familial Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob Syndrome

New Variant Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob Disease, Sporadic

Acquired Cjd

Scjd - [Sporadic Creutzfeldt-Jakob Disease]

Idiopathic Creutzfeldt-Jakob Disease

Creutzfeld-Jakob Disease Nos

Vcjd - [Variant Creutzfeldt-Jakob Disease]

Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1

Nasu-Hakola Disease

Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy

Plosl

Nhd

Presenile Dementia With Bone Cysts

Plo-Sl

PLOSL1

Dementia, Prefrontal, With Bone Cysts

Dementia, Progressive, With Lipomembranous Polycystic Osteodysplasia

Brain-Bone-Fat Disease

Progressive Dementia With Lipomembranous Polycystic Osteodysplasia

Brain-Bone-Fat Disease

Fatal Familial Insomnia

Insomnia, Fatal Familial

FFI

Familial Fatal Insomnia

Insomnia Familial Fatal

Insomnia Fatal Familial

Insomnia, Fatal, Familial

Ffi - [Fatal Familial Insomnia]

Dyscalculia

Disorder Of Arithmetical Skills

Mathematics Disorder

Developmental Arithmetic Disorder

Dementia, Lewy Body

Lewy Body Dementia

Lewy Body Disease

Diffuse Lewy Body Disease

Dementia With Lewy Bodies

DLB

Autosomal Dominant Diffuse Lewy Body Disease

Cortical Lewy Body Disease

Dementia, Lewy Body, Susceptibility To

Lewy Body Dementia, Susceptibility To

Senile Dementia Of The Lewy Body Type

Dementia Of The Lewy Body Type

Lbd

Diffuse Lewy Body Disease With Gaze Palsy

Dysphasic Dementia Hereditary

Lewy Body Type Senile Dementia

Lewy Body Variant Of Alzheimer Disease

Lewy Bodies

Lewy Body

Dlbd - [Diffuse Lewy Body Disease]

Clbd - [Cortical Lewy Body Disease]

Toxic Encephalopathy

Neurotoxicity

Neurotoxicity Syndromes

Neurotoxicity Syndrome

Encephalopathy, Toxic

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson 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

Kuru

Kuru, Susceptibility To

Kuru Encephalopathy

Kuru Encephalitis

Kuru Disease

Narcolepsy

Paroxysmal Sleep

Gelineau Syndrome

Narcoleptic Syndrome

Narcolepsy-Cataplexy Syndrome

Cataplexy And Narcolepsy

Narcolepsy, Without Cataplexy

Gelineau'S Syndrome

Narcolepsy With Or Without Cataplexy

Narcolepsy Nos

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos

Supranuclear Palsy, Progressive, 1

Progressive Supranuclear Palsy

Steele-Richardson-Olszewski Syndrome

Supranuclear Palsy, Progressive

Progressive Supranuclear Ophthalmoplegia

Psp

PSNP1

Familial Progressive Supranuclear Palsy

Richardson'S Syndrome

Psp Syndrome

Progressive Supranuclear Palsy 1

Supranuclear Palsy Progressive

Ophthalmoplegia, Supranuclear, Progressive

Steele-Richardson-Olszewksi Syndrome

Disease Of Mental Health

Mental Health

Mental Disorders

Normal Pressure Hydrocephalus

Low Pressure Hydrocephalus

Hydrocephalus Normal Pressure

Hydrocephalus, Normal Pressure

Normal Pressure Hydrocephalus Nos

Nph - [Normal Pressure Hydrocephalus]

Normal Pressure Hydrocephaly

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Communicating Hydrocephalus

Acquired Communicating Hydrocephalus

Alzheimer Disease 11

Ad11

Alzheimer'S Disease 11

Alzheimer Disease, Familial, 11

Alzheimer Disease-11

Alzheimer'S Disease 11, Late Onset

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures

Dark Dot Disease

Reticulate Acropigmentation Of Kitamura

Dowling-Degos Kitamura Disease

Kitamura Reticulate Acropigmentation

Ddd

Dowling-Degos-Kitamura Disease

Reticular Pigmented Anomaly Of Flexures

Movement Disease

Movement Disorders

Movement Disorder

Alzheimer Disease 9

AD9

Alzheimer'S Disease 9

Alzheimer Disease 9, Susceptibility To

Alzheimer Disease 9, Late-Onset

Alzheimer'S Disease 9, Late Onset

{Alzheimer Disease 9, Susceptibility To}

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

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

Alzheimer'S Disease 1

Alzheimer Disease Type 1

Alzheimer'S Disease 1, Early Onset

Stroke, Ischemic

Cerebral Infarction

Stroke

Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction

ISCHSTR

Ischemic Cerebrovascular Accident

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

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

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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

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
Canis familiaris PSEN1 VGNC VGNC:45085
Macaca mulatta PSEN1 VGNC VGNC:76435
Mus musculus PSEN1 MGD MGI:1202717
Rattus norvegicus PSEN1 RGD RGD:3425
Felis catus PSEN1 VGNC VGNC:69100
Bos taurus PSEN1 VGNC VGNC:33434