ACHE - acetylcholinesterase (Cartwright blood group) Gene

Also Known as YT; ACEE; ARACHE; N-ACHE

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 43

About ACHE

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:100,889,994-100,896,994 (from NCBI)

This gene has 14 transcripts (splice variants), 234 orthologues, 13 paralogues and is associated with 1 phenotype. Broad expression in bone marrow (RPKM 4.6), small intestine (RPKM 3.5) and 22 other tissues.

Summary

Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single AChE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and Other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The Other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. AChE activity may constitute a sensitive biomarker of RBC ageing in vivo, and thus, may be of aid in understanding the effects of transfusion[provided by RefSeq, Sep 2019]

ACHE Products (11)

mRNA Protein Name
NM_001282449.2 NP_001269378.1 acetylcholinesterase isoform 3 precursor
NM_001302622.2 NP_001289551.1 acetylcholinesterase isoform E4-E6 precursor
NM_001367918.1 NP_001354847.1 acetylcholinesterase isoform 5
NM_001367919.2 NP_001354848.1 acetylcholinesterase isoform 6
NM_001367917.1 NP_001354846.1 acetylcholinesterase isoform E4-E6 precursor
NR_160407.1
NR_160408.2
NM_000665.5 NP_000656.1 acetylcholinesterase isoform E4-E6 precursor
NM_001367915.1 NP_001354844.1 acetylcholinesterase isoform E4-E6 precursor
NM_015831.2
NM_001302621.3 NP_001289550.1 acetylcholinesterase isoform E4-E5 precursor
Molecular Function GO Annotation Evidence 参考文献 由来
enables acetylcholine binding IDA
IDA: Inferred from direct assay
8349597 GOA
enables acetylcholinesterase activity IDA
IDA: Inferred from direct assay
1517212 GOA
enables acetylcholinesterase activity IMP
IMP: Inferred from mutant phenotype
1517212 GOA
enables cholinesterase activity IDA
IDA: Inferred from direct assay
1517212 GOA
enables collagen binding IDA
IDA: Inferred from direct assay
12524166 GOA
enables hydrolase activity IDA
IDA: Inferred from direct assay
1517212 GOA
enables laminin binding IDA
IDA: Inferred from direct assay
12524166 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10800960 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
12524166 GOA
enables serine hydrolase activity IDA
IDA: Inferred from direct assay
3954986 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in acetylcholine catabolic process IDA
IDA: Inferred from direct assay
1517212 GOA
involved in cell adhesion IDA
IDA: Inferred from direct assay
15454088 GOA
involved in osteoblast development IEP
IEP: Inferred from expression pattern
15454088 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in Golgi apparatus IDA
IDA: Inferred from direct assay
15454088 GOA
located in extracellular region IDA
IDA: Inferred from direct assay
1517212 GOA
located in membrane IDA
IDA: Inferred from direct assay
16262697 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
14766237 GOA
located in synapse IDA
IDA: Inferred from direct assay
8460160 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACHE Protein Structure

COesterase

COesterase: Carboxylesterase family (18 - 563)

AChE_tetra

AChE_tetra: Acetylcholinesterase tetramerisation domain (578 - 614)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 614 a.a.
Protein Preferred Names Protein Names

acetylcholinesterase

  • Yt blood group

  • acetylcholinesterase (Yt blood group)

  • apoptosis-related acetylcholinesterase

ACHE Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
ACHE P22303 COLQ Homo sapiens Q9Y215 15526038
Intra
ACHE P22303 RACK1 Homo sapiens P63244 18194455
Intra
ACHE P22303 RACK1 Homo sapiens P63244
Y2H
18194455
Intra
ACHE P22303 ENO1 Homo sapiens P06733
Y2H
18194455
Intra
ACHE P22303 ENO1 Homo sapiens P06733 18194455
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ACHE Proteins

製品番号 製品名 アクセッション番号 純度
HY-P79277 Acetylcholinesterase/ACHE Protein, Human (CHO, His) P22303-1 (E32-L614) ≥ 95%, as determined by reducing SDS-PAGE.

ACHE 抗体

製品番号 製品名 アプリケーション 反応性
HY-P84186 ACHE Antibody (YA3883) WB, IHC-P, FC Human, Mouse, Monkey, Rat
HY-P84186A ACHE Antibody (YA3883)(PBS only) WB, IHC-P, FC Human, Mouse, Monkey, Rat

関連疾患

Diseases Alias
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

Nephrotic Syndrome, Type 1
  • Finnish Congenital Nephrosis

  • NPHS1

  • Cnf

  • Finnish Congenital Nephrotic Syndrome

  • Nephrotic Syndrome Type 1

  • Nephrosis, Congenital

  • Congenital Nephrotic Syndrome

  • Nephrotic Syndrome, Congenital

  • Congenital Nephrotic Syndrome Finnish Type

  • Congenital Nephrotic Syndrome 1

  • Nephrosis 1, Congenital, Finnish Type

  • Congenital Nephrotic Syndrome, Finnish Type

  • Nephrotic Syndrome 1

  • Congenital Nephrotic Syndrome Of The Finnish Type

Vascular Dementia
  • Dementia, Vascular

  • Multi Infarct Dementia

  • Multifocal Dementia

  • Dementia Vascular

  • Vascular Dementia, Susceptibility To

  • Dementia, Multi-Infarct

  • Multi-Infarct Dementia

Cascade Stomach
  • Hourglass Stricture Or Stenosis Of Stomach

  • Hourglass Contraction Of Stomach

  • Hourglass Stenosis Of Stomach

  • Hourglass Stricture Of Stomach

Skin Disease
  • Skin Diseases

  • Abnormality Of The Skin

  • Skin Diseases, Genetic

  • Genodermatosis

  • Skin And Subcutaneous Tissue Disease

  • Dermatologic Disorders

Thrombocytopenia
  • Low Platelet Count

  • Low Platelets

  • Decreased Platelets

  • Platelet Dysfunction Nos

Alzheimer Disease 10
  • Ad10

  • Alzheimer Disease-10

  • Alzheimer'S Disease 10

  • Alzheimer Disease, Familial, 10

  • Alzheimer Disease Familial 10

  • Alzheimer'S Disease 10, Early Onset

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Pick Disease Of Brain
  • Pick Disease

  • Pick Disease Of The Brain

  • Lobar Atrophy Of Brain

  • Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

  • Pick'S Disease

  • Behavioral Variant Of Frontotemporal Dementia

  • Dementia In Pick'S Disease

  • Lobar Atrophy Of The Brain

  • Bvftd

  • Bv-Ftd

  • PIDB

  • Picks Disease

Parkinsonism
  • Parkinsonism-Plus

  • Idiopathic Parkinsonism

  • Primary Parkinsonism

  • Paralysis Agitans Syndrome

  • Parkinsonian Syndrome

  • Trembling Paralysis

  • Paralysis Agitans

  • Shaking Palsy

  • Shaking Paralysis

Myasthenic Syndrome, Congenital, 6, Presynaptic
  • Familial Infantile Myasthenia

  • CMS6

  • Cmsea

  • Congenital Myasthenic Syndrome 6

  • Familial Infantile Myasthenia Gravis 2

  • Fimg2

  • Myasthenic Syndrome, Congenital, Associated With Episodic Apnea

  • Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea

  • Congenital Myasthenic Syndrome Type Ia2, Formerly

  • Cms1a2, Formerly

  • Cms Ia2, Formerly

  • Myasthenia, Familial Infantile, Formerly

  • Fim, Formerly

  • Myasthenia Gravis, Familial Infantile, 2, Formerly

  • Fimg2, Formerly

  • Cms Ia2

  • Cms1a2

  • Congenital Myasthenic Syndrome 6, Presynaptic

  • Congenital Myasthenic Syndrome Type Ia2

  • Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea

  • Fim

  • Cms1a

  • Cms-Ea

  • Cms Ia

  • Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea

  • Congenital Myasthenic Syndrome Type 1a

  • Congenital Myasthenic Syndrome Type Ia

  • Myasthenic Syndrome, Congenital, Type 6, Presynaptic

Simultanagnosia
Finger Agnosia
Pupil Disease
  • Pupil Disorders

  • Pupillary Disorder

Aplasia Cutis Congenita
  • Aplasia Cutis Congenita Of Limbs Recessive

  • Congenital Absence Of Skin On The Upper Or Lower Limbs

  • Recessive Aplasia Cutis Congenita Of The Limbs

  • Aplasia Cutis Congenita Nonsyndromic

  • Congenital Defect Of Skull And Scalp

  • Scalp Defect Congenital

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Disease Of Mental Health
  • Mental Health

  • Mental Disorders

Congenital Ptosis
  • Congenital Blepharoptosis

  • Congenital Eyelid Ptosis

Neuromuscular Junction Disease
  • Neuromuscular Junction Diseases

Neurogenic Bowel
Functional Colonic Disease
  • Colonic Diseases, Functional

Cerebrovascular Disease
  • Cerebrovascular Accident

  • Cerebrovascular Disorder

  • Cerebrovascular Disorders

  • Cva

  • Stroke

Diabetes Mellitus
  • Diabetes

Congenital Hypothyroidism
  • Cretinism

  • Neonatal Hypothyroidism

  • Ch

  • Cht

  • Congenital Myxedema

  • Myxedema, Congenital

  • Endemic Cretinism

  • Congenital Iodine-Deficiency Syndrome

  • Fetal Iodine Deficiency Syndrome

  • Congenital Iodine-Deficiency Hypothyroidism Nos

Supranuclear Palsy, Progressive, 1
  • Progressive Supranuclear Palsy

  • Steele-Richardson-Olszewski Syndrome

  • Supranuclear Palsy, Progressive

  • Psp

  • Progressive Supranuclear Ophthalmoplegia

  • PSNP1

  • Familial Progressive Supranuclear Palsy

  • Richardson'S Syndrome

  • Psp Syndrome

  • Progressive Supranuclear Palsy 1

  • Supranuclear Palsy Progressive

  • Ophthalmoplegia, Supranuclear, Progressive

  • Steele-Richardson-Olszewksi Syndrome

Spina Bifida Aperta
  • Open Spina Bifida

  • Spina Bifida Without Hydrocephalus

  • Spina Bifida Manifesta

  • Spina Bifida Aperta With Tethered Spinal Cord

Mild Cognitive Impairment
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

Neural Tube Defects
  • Spina Bifida

  • Neural Tube Defect

  • NTD

  • Neural Tube Defects, Susceptibility To

  • Spinal Dysraphism

  • Spina Bifida, Susceptibility To

  • Rachischisis

  • Cleft Spine

  • Open Spine

  • Hydrocele Spinalis

  • Neural Tube Defect Nos

  • Sb - [Spina Bifida]

  • Spinal Hernia Nos

  • Spinal Fissure Nos

Congenital Myasthenic Syndrome
  • Congenital Myasthenia

  • Congenital Myasthenic Syndromes

  • Cms

  • Myasthenic Syndromes, Congenital

  • Myasthenic Syndromes Congenital

  • Myasthenic Syndrome, Congenital

  • Congenital Myasthenic Syndrome Ib

  • Congenital And Developmental Myasthenia

  • Developmental Myasthenia

Myopathy
  • Muscular Diseases

  • Myopathies

Yt Blood Group Antigen
  • Cartwright Antigen

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

Movement Disease
  • Movement Disorders

  • Movement Disorder

Anencephaly
  • Aprosencephaly

  • Anencephalus

  • Congenital Absence Of Brain

  • Absence Of A Large Part Of The Brain And The Skull

  • Anencephalia

  • Anencephalic Monster

  • Brain Absence

  • Brain Agenesis

  • Brain Aplasia

  • Absent Brain

  • Anencephalic

  • Congenital Absence Of Cerebrum

  • Congenital Hemicrania

  • Incomplete Anencephaly

Ptosis
  • Blepharoptosis

  • Drooping Eyelid

  • Droopy Eyelid

  • Ptosis Of Eyelid

  • Paralysis Of Levator Palpebrae Superioris

Intestinal Pseudo-Obstruction
  • Chronic Intestinal Pseudoobstruction

  • Chronic Intestinal Pseudo-Obstruction

  • Cipo

  • Neuronal Intestinal Dysplasia

  • Hollow Visceral Myopathy

  • Familial Visceral Neuropathy

  • Paralytic Ileus

  • Intestinal Pseudoobstruction

  • Chronic Idiopathic Intestinal Pseudo-Obstruction

  • Ciip

  • Congenital Short Bowel Syndrome

  • Enteric Neuropathy

  • Familial Visceral Myopathy

  • Ipo

  • Pseudo-Obstruction Of Intestine

  • Pseudointestinal Obstruction Syndrome

  • Pseudoobstructive Syndrome

  • Congenital Idiopathic Intestinal Pseudoobstruction

  • Visceral Myopathy, Familial

Developmental And Epileptic Encephalopathy 47
  • DEE47

  • Epileptic Encephalopathy, Early Infantile, 47

  • Eiee47

  • Developmental And Epileptic Encephalopathy, 47

  • Early Infantile Epileptic Encephalopathy 47

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

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

Muscular Dystrophy
  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy

Gastroschisis
  • Laparoschisis

  • Congenital Fissure Of The Abdominal Cavity

  • Abdominal Wall Defect

  • Abdominal Hernia

  • Hernia, Abdominal

  • Omphalocele

  • Abnormality Of The Abdominal Wall

  • Congenital Omphalocele

  • Coeloschisis

  • Coelioschisis

  • Celoschisis

  • Congenital Para-Umbilical Hernia

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

Persian Gulf Syndrome
  • Gulf War Syndrome

Status Epilepticus
  • Grand Mal Status Epilepticus

  • Grand Mal Status

  • Gcse

  • Generalized Convulsive Status Epilepticus

  • Se

  • Epilepsy With Status Epilepticus

Wernicke-Korsakoff Syndrome
  • Korsakoff Syndrome

  • Transketolase Defect

  • Korsakoff'S Syndrome

  • Alcohol-Induced Encephalopathy

  • Korsakoff'S Psychosis

  • Korsakov Psychosis

  • Korsakov'S Psychosis

  • Alcohol Induced Encephalopathy

  • Korsakoff Disease

  • Korsakoff Psychosis

Psychotic Disorder
  • Psychotic Disorders

  • Mental Or Behavioural Disorder

  • Psychotic

  • Mental Disorders

Huntington Disease
  • Huntington'S Disease

  • Huntington Chorea

  • HD

  • Huntington'S Chorea

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea

Constipation
Epilepsy, Familial Temporal Lobe, 2
  • Familial Temporal Lobe Epilepsy 2

  • Temporal Epilepsy, Familial

  • ETL2

  • Ftle

  • Epilepsy, Familial Temporal Lobe

  • Familial Temporal Lobe Epilepsy

Neuroblastoma
  • Nb

  • Neuroblastoma, Susceptibility To

  • Neuroblastomas

  • Central Neuroblastoma

Hirschsprung Disease 1
  • Hirschsprung Disease

  • Aganglionic Megacolon

  • Hscr

  • Congenital Megacolon

  • Colonic Aganglionosis

  • Hirschsprung Disease, Susceptibility To, 1

  • Hirschsprung Disease, Protection Against

  • Hirschsprung'S Disease

  • Congenital Intestinal Aganglionosis

  • HSCR1

  • Mgc

  • Pelvirectal Achalasia

  • Total Intestinal Aganglionosis

  • Megacolon, Aganglionic

  • Macrocolon

  • Hscr 1

  • Hirschsprung Disease Type 1

  • Hirschsprung Disease, Type 1

  • Congenital Dilatation Of Colon

  • Aganglionosis

  • Congenital Aganglionic Megacolon

  • Aganglionosis Of Colon

  • Bowel Aganglionosis

  • Colon Aganglionosis

  • Hirschsprung Megacolon

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

Malaria
  • Malaria, Susceptibility To

  • Malaria, Resistance To

  • Malaria, Cerebral

  • Cerebral Malaria

  • Malaria, Severe, Susceptibility To

  • Malaria, Severe, Resistance To

  • Malaria, Cerebral, Susceptibility To

  • Induced Malaria

  • Malaria, Vivax, Protection Against

  • Malaria, Severe

  • Malaria, Cerebral, Reduced Risk Of

  • Malaria, Protection Against

  • Resistance To Malaria Due To G6pd Deficiency

  • Malaria Due To G6pd Deficiency

  • Malarial Encephalitis

  • CM

  • Malaria Cerebral

  • Susceptibility To Malaria

  • Acute Pernicious Fever

  • Aestivo-Autumnal Fever

  • Aestivo Autumnal Malaria

  • Chagres Fever

  • Continued Malaria Fever

  • Estivo-Autumnal Fever

  • Estivo-Autumnal Malaria

  • Estivo-Autumnal Malarial Fever

  • Falciparum Fever

  • Malignant Tertian Fever

  • Malignant Tertian Malaria

  • Pernicious Intermittent Fever

  • Pernicious Malaria

  • Quotidian Malaria

  • Subtertian Fever

  • Subtertian Malaria Fever

  • Subtertian Malignant Tertian Malaria

  • Tropical Malaria

  • Algid Malaria

  • Bilious Haemoglobinuric Fever

  • Black Water Fever

  • Blackwater Fever

  • Malarial Blackwater Fever

  • Severe Malarial Falciparum

  • West African Fever

  • Malarial Haematinuria

  • Haemoglobinuric Fever

  • Haemoglobinuric Malaria

  • Severe Plasmodium Falciparum Malaria

  • Malarial Haemoglobinuria

  • Malarial Haematuria

  • Falciparum Malaria [Malignant Tertian]

  • Malaria Tropica

  • Malarial Shock

  • Chagres Virus Disease

  • Malignant Malaria

  • Mtm - [Malignant Tertian Malaria]

  • Tm -[Malignant Tertian Malaria]

  • Panama Fever

  • St - [Subtertian Malaria]

  • Malarial Quotidian

  • Benign Tertian Malaria

  • Tertian Ague

  • Vivax Fever

  • Plasmodium Vivax Malaria Nos

  • Btm - [Benign Tertian Malaria]

  • Bt - [Benign Tertian Malaria]

  • Vivax Malaria

  • Benign Tertian Vivax Malaria

  • Tertian Malaria

  • Quartan Malaria

  • Quartan Ague

  • Quartan Fever

  • Plasmodium Malariae Malaria Nos

  • Quartan Malarial

  • Malaria By Plasmodium Malariae

  • Malariae Malaria

  • Ovale Tertian Malaria

  • Plasmodium Ovale Fever

  • Malaria Fever By Plasmodium Ovale

  • Ovale Malaria

  • Malaria By Plasmodium Ovale

  • Malarial Ovale

  • Marsh Fever

  • Remittent Congestive Fever

  • Coastal Fever

  • Remittent Gastric Fever

  • Miasmatic Fever

  • Congestive Remittent Fever

  • Intermittent Fever

  • Jungle Fever

  • Paludism

  • Cameroon Fever

  • Ague

  • Corsican Fever

  • Intermittent Bilious Fever

  • Disease Due To Plasmodiidae

  • Malarial Fever

  • Plasmodiosis

  • Remittent Fever

  • Roman Fever

  • Malaria Fever Nos

  • Malaria Nos

  • Paludal Fever

  • Clinically Diagnosed Malaria

  • Clinically Diagnosed Malaria Without Parasitological Confirmation

  • Congestive Fever

  • Malarial Cachexia

  • Marsh Cachexia

  • Paludal Cachexia

  • Recurrent Malaria

  • Remittent Malaria

Speech And Communication Disorders
  • Language Disorder

  • Communication Disorder

  • Language Disorders

  • Communication Disorders

  • Speech Language Disorder

  • Speech-Language Disorder

  • Communication Impairment

  • Speech And Language Disorder

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

Anxiety
  • Anxiety Disorder

  • Anxiety Disorders

  • Anxiety State

  • Anxieties

  • Anxiety Neurosis

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

Toxic Encephalopathy
  • Neurotoxicity

  • Neurotoxicity Syndromes

  • Neurotoxicity Syndrome

  • Encephalopathy, Toxic

Paroxysmal Nocturnal Hemoglobinuria
  • Marchiafava-Micheli Disease

  • Pnh

  • Hemoglobinuria, Paroxysmal

  • Marchiafava-Micheli Syndrome

  • Paroxysmal Hemoglobinuria Nocturnal

  • Nocturnal Haemoglobinuria

  • Nocturnal Paroxysmal Haematuria

  • Nocturnal Paroxysmal Haemoglobinaemia

Pure Autonomic Failure
  • Orthostatic Hypotension

  • Idiopathic Orthostatic Hypotension

  • Postural Hypotension

  • Bradbury-Eggleston Syndrome

  • Bradbury Eggleston Syndrome

  • Hypotension, Orthostatic

  • Hypotension, Postural

  • Paf

  • Pure Dysautonomia

  • Pure Idiopatic Dysautonomia

  • Hypotension Orthostatic

  • Primary Orthostatic Hypotension

  • Chronic Orthostatic Hypotension

Junctional Epidermolysis Bullosa
  • Epidermolysis Bullosa, Junctional

  • Jeb

  • Epidermolysis Bullosa Atrophicans

  • Congenital Junctional Epidermolysis Bullosa

  • Epidermolysis Bullosa Junctional

  • Junctional Eb - [Epidermolysis Bullosa]

  • Jeb - [Junctional Epidermolysis Bullosa]

  • Lucidolytic Epidermolysis Bullosa

Alzheimer Disease 12
  • Ad12

  • Alzheimer'S Disease 12

  • Alzheimer Disease, Familial, 12

  • Alzheimer Disease Familial 12

Intraocular Pressure Quantitative Trait Locus
  • Glaucoma

  • IOPQTL

  • Glaucoma, Susceptibility To

  • Postinfectious Glaucoma

  • Glaucoma With Ocular Inflammation

  • Glaucoma Secondary To Eye Inflammation

  • Traumatic Glaucoma

  • Glaucoma With Concussion Of Globe

  • Glaucoma Due To Ocular Trauma

  • Glaucoma Associated With Ocular Trauma

  • Glaucoma Secondary To Drugs

Acute Laryngopharyngitis
  • Pharyngolaryngitis

  • Laryngopharyngitis

  • Hypopharyngitis

Thiamine Deficiency Disease
Omphalocele
  • Omphalocoele

  • Congenital Omphalocele

  • Exomphalos

  • Exumbilication

Colonic Pseudo-Obstruction
  • Primary Chronic Pseudo-Obstruction Of Colon

Polyneuropathy
  • Polyneuropathies

Diarrhea
  • Diarrhoea

  • Diarrhea Of Presumed Infectious Origin

Normal Pressure Hydrocephalus
  • Low Pressure Hydrocephalus

  • Hydrocephalus Normal Pressure

  • Hydrocephalus, Normal Pressure

  • Normal Pressure Hydrocephalus Nos

  • Nph - [Normal Pressure Hydrocephalus]

  • Normal Pressure Hydrocephaly

Megacolon
  • Dilatation Of Colon

Rem Sleep Behavior Disorder
  • Rem Sleep Behaviour Disorder

  • Rapid Eye Movement Sleep Behavior Disorder

  • Rapid Eye Movement Sleep Behaviour Disorder

  • Rem - [Rapid Eye Movement] Behaviour Disorder

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular 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]

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Diabetes Mellitus, Non-Insulin-Dependent

  • Type 2 Diabetes

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Protection Against

  • Lung Cancer, Susceptibility To

  • Adenocarcinoma Of Lung, Somatic

  • Nonsmall Cell Lung Cancer

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

Myasthenic Syndrome, Congenital, 5
  • Endplate Acetylcholinesterase Deficiency

  • Congenital Myasthenic Syndrome 5

  • CMS5

  • Ead

  • Engel Congenital Myasthenic Syndrome

  • Myasthenic Syndrome, Congenital, Engel Type

  • Cms Ic

  • Congenital Myasthenic Syndrome Type Ic

  • Congenital Myasthenic Syndrome Type Ic, Formerly

  • Cms1c, Formerly

  • Cms Ic, Formerly

  • Congenital Myasthenic Syndrome Engel Type

  • End Plate Acetylcholinesterase Deficiency

  • Synaptic Congenital Myasthenic Syndromes

  • Cms1c

  • Cmse

  • Congenital Myasthenic Syndrome Type 1c

  • End-Plate Acetylcholinesterase Deficiency

  • Myasthenic Syndrome, Congenital, Type 5

Myasthenia Gravis
  • MG

  • Acquired Myasthenia

  • Autoimmune Myasthenia Gravis

  • Erb-Goldflam Disease

  • Mg - [Myasthenia Gravis]

  • Myasthenia Gravis Nos

  • Myasthenia

Binswanger'S Disease
  • Multi-Infarct Dementia

  • Dementia Multi-Infarct

  • Binswanger Disease

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

生物種 Symbol 由来 ID
Macaca mulatta ACHE VGNC VGNC:80325
Felis catus ACHE VGNC VGNC:80549
Canis familiaris ACHE VGNC VGNC:49076
Mus musculus ACHE MGD MGI:87876
Rattus norvegicus ACHE RGD RGD:69313
Others ACHE NCBI