1. Gene
  2. TH - tyrosine hydroxylase Gene

TH - tyrosine hydroxylase Gene

Homo sapiens

Also known as TYH; DYT14; DYT5b

Gene ID: 7054 | Gene type: protein coding

About TH

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:2,163,929-2,171,815 (from NCBI)

This gene has 11 transcripts (splice variants), 188 orthologues, 3 paralogues and is associated with 3 phenotypes. Restricted expression toward adrenal (RPKM 42.8).

Summary

The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting Enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

TH Products(3)

mRNA Protein Name
NM_000360.4 NP_000351.2 tyrosine 3-monooxygenase isoform b
NM_199292.3 NP_954986.2 tyrosine 3-monooxygenase isoform a
NM_199293.3 NP_954987.2 tyrosine 3-monooxygenase isoform c
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables enzyme binding IPI
IPI: Inferred from physical interaction
19703902 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11943812 GOA
enables tyrosine 3-monooxygenase activity IDA
IDA: Inferred from direct assay
1680128 GOA
Biological Process GO Annotation Evidence Reference Source
involved in dopamine biosynthetic process IDA
IDA: Inferred from direct assay
12457228 GOA
involved in epinephrine biosynthetic process IDA
IDA: Inferred from direct assay
12457228 GOA
involved in norepinephrine biosynthetic process IDA
IDA: Inferred from direct assay
12457228 GOA
involved in response to ethanol IDA
IDA: Inferred from direct assay
18343820 GOA
involved in response to hypoxia IDA
IDA: Inferred from direct assay
17520326 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
10907721 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: Inferred from direct assay
12457228 GOA
located in cytoplasmic vesicle IDA
IDA: Inferred from direct assay
12457228 GOA
located in melanosome membrane IDA
IDA: Inferred from direct assay
12631248 GOA
located in neuron projection IDA
IDA: Inferred from direct assay
17135716 GOA
located in nucleus IDA
IDA: Inferred from direct assay
21392500 GOA
located in smooth endoplasmic reticulum IDA
IDA: Inferred from direct assay
12457228 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

TH Protein Structure

TOH_N

TOH_N: Tyrosine hydroxylase N terminal (2 - 26)

TOH_N

TOH_N: Tyrosine hydroxylase N terminal (37 - 61)

TOH_N

TOH_N: Tyrosine hydroxylase N terminal (62 - 80)

Biopterin_H

Biopterin_H: Biopterin-dependent aromatic amino acid hydroxylase (195 - 525)

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

tyrosine 3-monooxygenase

dystonia 14

Recombinant TH Proteins

Cat. No. Product Name Accession Purity
HY-P73564 Tyrosine Hydroxylase Protein, Human (sf9, His) P07101-3 (P2-G497) ≥95%

Related Diseases

Diseases Alias
Segawa Syndrome, Autosomal Recessive

Tyrosine Hydroxylase Deficiency

Dystonia, Dopa-Responsive, Autosomal Recessive

Parkinsonism, Infantile, Autosomal Recessive

Segawa Syndrome, Recessive

Dyt5b

Th-Deficient Drd

Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

Autosomal Recessive Infantile Parkinsonism

Autosomal Recessive Dopa-Responsive Dystonia

Autosomal Recessive Dopa Responsive Dystonia

Dopa-Responsive Dystonia, Autosomal Recessive

Dopa Responsive Dystonia, Autosomal Recessive

Dyt/Park-Th

Dystonia, Dopa Responsive, Autosomal Recessive

Th Deficiency

Autosomal Recessive Segawa Syndrome

Thy

Segawa Syndrome Autosomal Recessive

ARSEGS

Thd

Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Dystonia, Dopa-Responsive

Dystonia 5

Dopa-Responsive Dystonia

DRD

Dyt5

Dystonia-Parkinsonism With Diurnal Fluctuation

Dyt-Th

Hpd With Diurnal Fluctuation

Hereditary Progressive Dystonia With Diurnal Fluctuation

Dystonia, Progressive, With Diurnal Variation

Segawa Syndrome, Autosomal Dominant

Dystonia, Dopa-Responsive, Autosomal Dominant

Dopa-Responsive Dystonia, Autosomal Dominant

Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia

Dyt-Gch1

Dyt-Spr

Dystonia 5, Dopa-Responsive Type

Hereditary Progressive Dystonia With Marked Diurnal Fluctuation

Autosomal Dominant Dopa-Responsive Dystonia

Autosomal Dominant Segawa Syndrome

Dystonia-5

Progressive Dystonia With Diurnal Fluctuation

Dystonia, Type 5, Dopa-Responsive Type

Placental Insufficiency

Uteroplacental Vascular Insufficiency

Hyperphenylalaninemia, Bh4-Deficient, B

Gtp Cyclohydrolase I Deficiency

HPABH4B

Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase I Deficiency

Bh4-Deficient Hyperphenylalaninemia B

Gtp Cyclohydrolase 1 Deficiency

Tetrahydrobiopterin-Deficient Hyperphenylalaninemia B

Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase 1 Deficiency

Gtpch Deficiency

Hyperphenylalaninemia Due To Gtp Cyclohydrolase Deficiency

Atypical Severe Phenylketonuria Due To Gtp Cyclohydrolase I Deficiency

Gch1 Deficiency

Guanosine Triphosphate Cyclohydrolase I Deficiency

Hyperphenylalaninemia With Neopterin Deficiency

Phenylketonuria

Phenylalanine Hydroxylase Deficiency

PKU

Pah Deficiency

Folling Disease

Maternal Phenylketonuria

Phenylketonurias

Oligophrenia Phenylpyruvica

Hyperphenylalaninemia, Non-Pku Mild

Folling'S Disease

Phenylalaninemia

Mild Phenylketonuria

Mild Pku

Variant Pku

Variant Phenylketonuria

Mpku

Deficiency Disease, Phenylalanine Hydroxylase

Phenylketonuria, Maternal

Phenylalanine Hydroxylase Deficiency Disease

Hyperphenylalaninemic Embryopathy

Maternal Pku

Maternal Hyperphenylalaninemia

Phenylketonuric Embryopathy

Hyperphenylalaninemia

HPA

Non-Phenylketonuria Hyperphenylalaninemia

NON-PKU HPA

Phenylketonuria Maternal

Classical Phenylketonuria

Hyperphenylalaninaemia

Pku - [Phenylketonuria]

Mood Disorder

Mood Disorders

Episodic Mood Disorder

Parkinsonism

Parkinsonism-Plus

Idiopathic Parkinsonism

Primary Parkinsonism

Paralysis Agitans Syndrome

Parkinsonian Syndrome

Trembling Paralysis

Paralysis Agitans

Shaking Palsy

Shaking Paralysis

Pheochromocytoma

Pheochromocytoma, Susceptibility To

Phaeochromocytoma

Adrenal Gland Chromaffin Paraganglioma

Adrenal Gland Chromaffinoma

Adrenal Gland Paraganglioma

Adrenal Gland Pheochromocytoma

Chromaffin Paraganglioma Of The Adrenal Gland

Intraadrenal Paraganglioma

PCC

Chromaffin Cell Tumor

Medullary Chromaffinoma

Medullary Paraganglioma

Pheochromoblastoma

Pheochromocytomas

Chromaffin Cell Neoplasm

Pheochromocytoma, Malignant

Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Multiple System Atrophy 1

Multiple System Atrophy

Shy-Drager Syndrome

Msa

MSA1

Multiple System Atrophy 1, Susceptibility To

Sporadic Olivopontocerebellar Atrophy

Multisystem Atrophy

Msa1, Susceptibility To

Multiple System Atrophy, Susceptibility To

Opca

Progressive Autonomic Failure With Multiple System Atrophy

Sds

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]

Paraganglioma

Chemodectoma

Glomus Body Tumor

Paragangliomas

Carotid Body Paraganglioma

Extra-Adrenal Paraganglioma

Stiff-Person Syndrome

SPS

Stiff-Man Syndrome

Stiff Man Syndrome

Stiff Person Syndrome

Moersch-Woltman Syndrome

Sms

Stiff-Trunk Syndrome

Morsch Woltman Syndrome

Stiff Person Syndrome And Related Disorders

Stiff Person Spectrum Disorder

Classic Stiff Person Syndrome

Classic Sps

Focal Stiff Limb Syndrome

Focal Stiff-Person Syndrome

Stiff Leg Syndrome

Progressive Encephalomyelitis With Rigidity

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

Ganglioglioma

Childhood Ganglioglioma

Adult Ganglioglioma

Cns Ganglioglioma

Mixed Cell Tumors Containing Both Neural Ganglionic Cells And Neural Glial Cell Components

Gilles De La Tourette Syndrome

Tourette Syndrome

Tourette Disorder

GTS

Ts

Gilles De La Tourette'S Syndrome

Motor-Verbal Tic Disorder

Guinon'S Disease

Psychogenic Tics

Tourette'S Syndrome

Chronic Motor And Vocal Tic Disorder

Td

Tourette'S Disease

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

Combined Vocal And Multiple Motor Tic Disorder

Tic De La Tourette

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Wolfram Syndrome

Didmoad Syndrome

Didmoad

Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

Wfs

Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness

Didmoadud

Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome

Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome

Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Von Hippel-Lindau Syndrome

Von Hippel-Lindau Disease

Vhl

Vhl Syndrome

VHLS

Von Hippel-Lindau Syndrome, Modifier Of

Hippel Lindau Syndrome

Angiomatosis Retinae

Cerebelloretinal Angiomatosis, Familial

Hippel-Lindau Disease

Familial Cerebelloretinal Angiomatosis

Lindau Disease

VHLD

Movement Disease

Movement Disorders

Movement Disorder

Constipation
Multiple Endocrine Neoplasia

Men

Multiple Endocrine Adenomatosis

Multiple Endocrine Neoplasia Syndrome

Adenomatosis, Familial Endocrine

Endocrine Neoplasia, Multiple

Familial Endocrine Adenomatosis

Mea

Multiple Endocrine Neoplasms

Multiple Endocrine Neoplasia Type 1

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

Ganglioneuroblastoma
Borderline Personality Disorder
Personality Disorder

Personality Disorders

Character Disorder

Personality

Specific Personality Disorders

Enduring Personality Change After Psychiatric Illness

Toxic Encephalopathy

Neurotoxicity

Neurotoxicity Syndromes

Neurotoxicity Syndrome

Encephalopathy, Toxic

Dopamine Beta-Hydroxylase Deficiency

Noradrenaline Deficiency

Norepinephrine Deficiency

Dopamine Beta Hydroxylase Deficiency

Congenital Dopamine Beta-Hydroxylase Deficiency

Dopamine Beta-Hydroxylase Deficiency, Congenital

Dopamine Β-Hydroxylase

Dbh Deficiency

Gastroparesis

Gastroparesis Syndrome

Delayed Gastric Emptying

Gastric Atonia

Gastroparalysis

Central Hypoventilation Syndrome, Congenital, 1

Cchs

CCHS1

Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung Disease

Central Hypoventilation Syndrome, Congenital

Congenital Failure Of Autonomic Control

Autonomic Control, Congenital Failure Of

Ondine Curse, Congenital

Ondine Curse

Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung

Hypoventilation, Central, Syndrome, Congenital, Type 1

Congenital Central Hypoventilation

Sleep Apnea, Central

Central Alveolar Hypoventilation Syndrome

Cchs With Hirschsprung Disease

Congenital Central Alveolar Hypoventilation Syndrome

Sleep-Related Respiratory Failure

Hypoventilation

Ganglioneuroma
Amphetamine Abuse
Aromatic L-Amino Acid Decarboxylase Deficiency

Aadc Deficiency

Dopa Decarboxylase Deficiency

Ddc Deficiency

Aromatic Amino Acid Decarboxylase Deficiency

Deficiency Of Aromatic-L-Amino-Acid Decarboxylase

AADCD

Aromatic-L-Amino-Acid Decarboxylase Deficiency

Aromatic L-Amino-Acid Decarboxylase Deficiency

Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius

Aqueductal Stenosis

Aqueductal Stenosis, X-Linked

Hsas

Hsas1

Hycx

Hydrocephalus, X-Linked

Xlas

X-Linked Hydrocephalus Syndrome

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

Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency

Sepiapterin Reductase Deficiency

Spr Deficiency

Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency

Srd

Drd Due To Srd

Dopa-Responsive Hypersomnia

Dyt-Spr

Dyt/Park-Spr

Sr-Deficient Drd

Autosomal Recessive Sepiapterin Reductase-Deficient Drd

Spr

DRDSPRD

Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency

Psychomotor Disorders

Hyperphenylalaninemia, Bh4-Deficient, A

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Pts Deficiency

HPABH4A

Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency

Ptsd

Bh4-Deficient Hyperphenylalaninemia A

Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency

Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency

Hyperphenylalanemia, Bh4-Deficient, A

Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

6-Pyruvoyltetrahydropterin Synthase Deficiency

Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency

Ptpsd

Hyperphenylalaninemia, Bh4-Deficient, Type A

Adjustment Disorder

Adjustment Reaction

Adjustment Disorders

Adjustment Disease

Brief Situational Non-Psychotic Disorder

Adaptation Reaction Nos

Emotional Crisis

Situational Disorder

Situational Disturbance

Situational Maladjustment

Situational Reaction

Situational Reaction With Maladjustment

Transient Situational Disturbance

Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia

APS1

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Apeced

Pga I

Hypoadrenocorticism With Hypoparathyroidism And Superficial Moniliasis

Autoimmune Polyendocrinopathy Syndrome , Type I, With Or Without Reversible Metaphyseal Dysplasia

Polyglandular Autoimmune Syndrome, Type 1

Autoimmune Polyglandular Syndrome Type 1

Autoimmune Polyendocrine Syndrome Type 1

Autoimmune Polyendocrinopathy Syndrome Type 1

Whitaker Syndrome

Aps Type 1

Polyglandular Type I Autoimmune Syndrome

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome

Aps I

Autoimmune Polyglandular Syndrome, Type I

Polyglandular Autoimmune Syndrome, Type I

Aps 1

Autoimmune Polyglandular Syndrome Type I

Pga 1

Pga-I

Polyglandular Autoimmune Syndrome Type 1

Type I Polyglandular Autoimmune Syndrome

Aire Deficiency

Autoimmune Polyendocrinopathy With Candidiasis And Ectodermal Dystrophy

Autoimmune Polyglandular Syndrome, Type 1

Autoimmune Polyendocrinopathy Type 1

Apeced Syndrome

Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome

Ham Syndrome

Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome

Medac Syndrome

Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome

Autoimmune Polyendocrine Syndrome 1, With Or Without Reversible Metaphyseal Dysplasia

Aps-1

Autoimmune Polyendocrine Syndrome Type I

Autoimmune Polyendocrinopathy Syndrome Type I

Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I

Polyglandular Autoimmune Syndrome Type I

Polyglandular Deficiency Syndrome Persian-Jewish Type

Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant

Polyendocrinopathy Autoimmune, Type 1, With/Without Reversible Metaphyseal Dysplasia

Hyperphenylalaninemia

Hyperphenylalaninaemia

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

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

Rhabdomyosarcoma 2

Alveolar Rhabdomyosarcoma

Rhabdomyosarcoma, Alveolar

Rhabdomyosarcoma Alveolar

RMS2

Rmsa

Rhabdomyosarcoma 2, Alveolar

Alveolar Childhood Rhabdomyosarcoma

Arms

Rhabdomyosarcoma, Type 2

Major Depressive Disorder

Seasonal Affective Disorder

Unipolar Depression

Depression

MDD

Depressive Disorder

Unipolar Depression, Susceptibility To

Major Depressive Disorder 1

Major Depressive Disorder, Response To Citalopram Therapy In

Major Depressive Disorder 2

Winter Depression

Single Major Depressive Episode

Sad

Clinical Depression

Major Depression

Depressive Syndrome

Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

Seasonal Affective Disorder, Susceptibility To

Recurrent Major Depression

Affective Disorder, Seasonal

Depression In A Seasonal Pattern

Depression

Seasonal

Major Depressive Disorder With A Seasonal Pattern

Seasonal Depression

Seasonal Mood Disorder

Mental Depression

Recurrent Major Depressive Episodes

Peripheral Nervous System Benign Neoplasm
Autonomic Nervous System Benign Neoplasm
Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic

Striatonigral Degeneration
Oculogyric Crisis
Postencephalitic Parkinson Disease

Postencephalitic Parkinsonism

Parkinson Disease, Postencephalitic

Neonatal Hypoxic And Ischemic Brain Injury

Perinatal Asphyxia

Hypoxic-Ischemic Encephalopathy

Perinatal Hypoxia

Hie

Hypoxic And Ischemic Brain Injury In The Newborn

Encephalopathy, Hypoxic Ischemic

Encephalopathies Hypoxic-Ischemic

Hypoxic Ischemic Encephalopathy

Hypoxic Ischaemic Brain Injury

Brain Hypoxia

Cerebral Hypoxia

Hypoxic Encephalopathy

Hypoxic Brain Damage

Hypoxic Brain Injury

Brainstem Hypoxia

Hypoxic Brainstem Damage

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Anxiety

Anxiety Disorder

Anxiety Disorders

Anxiety State

Anxieties

Anxiety Neurosis

Diabetic Autonomic Neuropathy

Diabetic Neuropathies

Morphine Dependence
Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Impulse Control Disorder

Disruptive, Impulse Control, And Conduct Disorders

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

Congenital Central Hypoventilation Syndrome

Cchs

Haddad Syndrome

Ondine Curse

Ondine Syndrome

Congenital Central Hypoventilation

Congenital Central Alveolar Hypoventilation Syndrome

Congenital Failure Of Autonomic Control

Ondine'S Curse

Primary Alveolar Hypoventilation

Ondine-Hirschsprung Disease

Central Congenital Hypoventilation Syndrome

Congenital Ondine Curse

Idiopathic Congenital Central Alveolar Hypoventilation

Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

Ondine-Hirschsprung Syndrome

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1

Guam Disease

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Of Guam

Als-Pdc

Lytico-Bodig Disease

Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1, Susceptibility To

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex, Susceptibility To

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex

Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Of Guam Syndrome

Parkinsonism-Dementia-Als Complex

Pdals

Amyotrophic Lateral Sclerosis, Parkinsonism/Dementia Complex Of Guam

Parkinson-Dementia Complex Of Guam

G-Pdc

Guam Parkinsonism-Dementia Complex

ALS-PDC1

Als/Pdc Of Guam

Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic/Parkinsonism/Dementia Complex 1

Amyotrophic Lateral Sclerosis, Guam Form

Parkinsonian Disorders

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Developmental And Epileptic Encephalopathy 47

DEE47

Epileptic Encephalopathy, Early Infantile, 47

Eiee47

Developmental And Epileptic Encephalopathy, 47

Early Infantile Epileptic Encephalopathy 47

Sleep Disorder

Sleep Disorders

Non-Organic Sleep Disorder

Dissociated Nystagmus
Autonomic Nervous System Disease

Autonomic Nervous System Dysfunction

Autonomic Nervous System Disorders

Autonomic Nervous System Disorder

Autonomic Nervous System Diseases

Abnormality Of The Autonomic Nervous System

Hearing Loss, Noise-Induced

Noise-Induced Hearing Loss

NIHL

Hearing Loss, Noise-Induced, Susceptibility To

Hearing Loss Noise-Induced

Noise Induced Hearing Loss

Esophageal Atresia

Tracheoesophageal Fistula

Congenital Atresia Of Esophagus

Congenital Imperforate Esophagus

Imperforate Esophagus

Oesophageal Atresia

Te Fistula

Tef

Tracheoesophageal Fistula With Or Without Esophageal Atresia

Parkinson Disease 4, Autosomal Dominant

Autosomal Dominant Parkinson Disease 4

PARK4

Parkinson Disease 4, Autosomal Dominant Lewy Body

Parkinson Disease 4

Parkinson'S Disease 4

Autosomal Dominant Lewy Body Parkinson Disease 4

Autosomal Dominant Parkinson'S Disease 4

Parkinson Disease 4 Autosomal Dominant Lewy Body

Parkinson Disease Autosomal Dominant 4

Parkinson Disease Familial Type 4

Parkinson Disease, Type 4

Autonomic Nervous System Neoplasm

Tumor Of Autonomic Nervous System

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

Peripheral Nervous System Neoplasm

Peripheral Nervous System Neoplasms

Nerve Sheath Neoplasm

Neoplasm Of Peripheral Nerve

Tumor Of Pns

Nerve Sheath Neoplasms

Nerve Sheath Tumors

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

Disease Of Mental Health

Mental Health

Mental Disorders

Choreatic Disease

Chorea

Hereditary Chorea

Specific Developmental Disorder
Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

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

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

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

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

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

Species Symbol Source ID
Felis catus TH VGNC VGNC:66147
Rattus norvegicus TH RGD RGD:3853
Bos taurus TH VGNC VGNC:35816
Canis familiaris TH VGNC VGNC:47322
Mus musculus TH MGD MGI:98735
Macaca mulatta TH VGNC VGNC:78342
Macaca fascicularis TH NCBI NCBI:102134074
Canis lupus familiaris TH NCBI
Susscrofa domestica TH NCBI
Leporidae TH NCBI
Others TH NCBI