EPRS1 - glutamyl-prolyl-tRNA synthetase 1 Gene

Homo sapiens

Also known as EARS; EPRS; PARS; QARS; QPRS; HLD15; PIG32; GLUPRORS

Gene ID: 2058 | Gene type: protein coding

About EPRS1

Cytogenetic location: 1q41 Genomic coordinates (GRCh38): 1:219,968,600-220,046,505 (from NCBI)

This gene has 6 transcripts (splice variants), 213 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 31.6), appendix (RPKM 22.6) and 25 other tissues.

Summary

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate Amino acids. The protein encoded by this gene is a multifunctional Aminoacyl-tRNA Synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]

EPRS1 Products(1)

mRNA	Protein	Name
NM_004446.3	NP_004437.2	bifunctional glutamate/proline--tRNA ligase

EPRS1 Protein Structure

GST_C_3

tRNA-synt_1c

tRNA-synt_1c_C

WHEP-TRS

tRNA-synt_2b

HGTP_anticodon

ProRS-C_1

0
300
600
900
1200
1512 a.a.

Protein Preferred Names

Protein Names

bifunctional glutamate/proline--tRNA ligase

bifunctional aminoacyl-tRNA synthetase

Related Diseases

Diseases

Alias

Leukodystrophy, Hypomyelinating, 15

HLD15

Antisynthetase Syndrome

As Syndrome

Anti-Jo1 Syndrome

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

Usher Syndrome, Type Iiib

Usher Syndrome Type 3b	USH3B
Usher Syndrome Type Iiib	Usher Syndrome 3b

Charcot-Marie-Tooth Disease, Axonal, Type 2n

Charcot-Marie-Tooth Disease Axonal Type 2n	CMT2N
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n	Charcot-Marie-Tooth Neuropathy Axonal Type 2n
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n	Charcot-Marie-Tooth Disease 2n
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n	Charcot-Marie-Tooth Disease, Type 2n

Charcot-Marie-Tooth Disease, Axonal, Type 2d

Charcot-Marie-Tooth Disease Type 2d	CMT2D
Charcot-Marie-Tooth Disease, Type 2d	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d
Charcot-Marie-Tooth Disease Neuronal Type 2d	Charcot-Marie-Tooth Neuropathy Type 2d
Charcot-Marie-Tooth Disease, Neuronal, Type 2d	Charcot-Marie-Tooth Neuropathy, Type 2d
Charcot-Marie-Tooth Disease 2d	Charcot-Marie-Tooth Disease Axonal Type 2d

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Combined Oxidative Phosphorylation Deficiency 12

COXPD12	Ltbl
Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate	Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome
Combined Oxidative Phosphorylation Defect Type 12	Combined Oxidative Phosphorylation Deficiency, Type 12

Charcot-Marie-Tooth Disease, Axonal, Type 2u

CMT2U	Charcot-Marie-Tooth Disease Axonal Type 2u
Charcot-Marie-Tooth Neuropathy, Type 2u	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u	Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u
Charcot-Marie-Tooth Neuropathy Type 2u	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Mars Mutation
Charcot-Marie-Tooth Disease 2u

Separation Anxiety Disorder

Separation Anxiety Disorder Of Childhood

Infancy Electroclinical Syndrome

Charcot-Marie-Tooth Disease, Dominant Intermediate C

CMTDIC	Charcot-Marie-Tooth Disease Dominant Intermediate C
Di-Cmtc	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C	Charcot-Marie-Tooth Neuropathy Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C	Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C

Charcot-Marie-Tooth Disease, Axonal, Type 2w

CMT2W	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w
Charcot-Marie-Tooth Neuropathy, Type 2w	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2w
Charcot-Marie-Tooth Disease, Axonal Type 2w	Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2w
Charcot-Marie-Tooth Neuropathy Type 2w	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Hars Mutation
Charcot-Marie-Tooth Disease 2w

Charcot-Marie-Tooth Disease Intermediate Type

Intermediate Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease Dominant Intermediate
Charcot-Marie-Tooth Disease Recessive Intermediate	Intermediate Cmt
Intermediate Hereditary Motor And Sensory Neuropathy	Charcot-Marie-Tooth Disease, Intermediate Type
Charcot-Marie-Tooth, Intermediate

Multiple Mitochondrial Dysfunctions Syndrome 4

MMDS4	Multiple Mitochondrial Dysfunctions Syndrome Type 4
Mitochondrial Dysfunctions, Multiple, Syndrome, Type 4

Combined Oxidative Phosphorylation Deficiency 24

COXPD24	Combined Oxidative Phosphorylation Defect Type 24
Oxidative Phosphorylation Deficiency, Combined, Type 24

Deafness, Autosomal Recessive 94

DFNB94	Autosomal Recessive Nonsyndromic Deafness 94
Autosomal Recessive Deafness 94	Deafness, Autosomal Recessive, 94

Specific Developmental Disorder

Deafness, Autosomal Recessive 89

DFNB89	Autosomal Recessive Nonsyndromic Deafness 89
Autosomal Recessive Deafness 89	Deafness, Autosomal Recessive, 89
Deafness, Autosomal Recessive, Type 89

Neonatal Period Electroclinical Syndrome

Leukodystrophy

Leukodystrophies

Infantile Liver Failure Syndrome

Infantile Liver Failure

Physical Disorder

Physical Illness

Combined Oxidative Phosphorylation Deficiency 20

COXPD20	Combined Oxidative Phosphorylation Defect Type 20
Oxidative Phosphorylation Deficiency, Combined, Type 20

Parasitic Protozoa Infectious Disease

Protozoan Infections	Mastigophora Infectious Disease
Sarcomastigophora Infectious Disease

Pleurisy

Disease Of Mental Health

Mental Health

Mental Disorders

Autosomal Dominant Distal Hereditary Motor Neuronopathy

Autosomal Dominant Distal Hereditary Motor Neuropathy	Autosomal Dominant Dhmn
Autosomal Dominant Distal Spinal Muscular Atrophy

Acrocephalopolysyndactyly Type Iii

Sakati Syndrome	Sakati-Nyhan Syndrome
Acps With Leg Hypoplasia	Acps Iii
Acrocephalopolysyndactyly Type 3	Sakati-Nyhan-Tisdale Syndrome

Acute Cystitis

Urinary Tract Infection

Recurrent Urinary Tract Infection

Thrombosis

Thrombosis Of Blood Vessel

Lung Disease

Lung Diseases	Disorder Of Lung
Abnormality Of The Lung

Sensory System Disease

Muscle Tissue Disease

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Chromosomal Duplication Syndrome

Childhood Electroclinical Syndrome

Neuronopathy, Distal Hereditary Motor, Type Va

Dsmav	Distal Hereditary Motor Neuropathy Type V
Young Adult-Onset Distal Hereditary Motor Neuropathy	Neuronopathy, Distal Hereditary Motor, Type V
Distal Hereditary Motor Neuronopathy Type 5	Dhmn5
Distal Spinal Muscular Atrophy Type 5	HMN5A
Hmn5	Dhmn5a
Dhmn Va	Dsmava
Spinal Muscular Atrophy, Distal, With Upper Limb Predominance	Distal Hmn V
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5	Dsma5
Young Adult-Onset Dhmn	Dhmn-V
Hmn V	Neuronopathy, Distal Hereditary Motor, Type 5a
Hmn 5a	Neuropathy, Distal Hereditary Motor, Type Va
Spinal Muscular Atrophy, Distal, Type Va	Spinal Muscular Atrophy, Distal, Type V
Distal Spinal Muscular Atrophy Type V	Distal Spinal Muscular Atrophy With Upper Limb Predominance
Distal Hereditary Motor Neuronopathy Type 5a	Distal Hmn Va
Distal Spinal Muscular Atrophy Type Va	Distal Hereditary Motor Neuropathy, Type V
Distal Hereditary Motor Neuronopathy, Type V	Distal Spinal Muscular Atrophy, Type V
Spinal Muscular Atrophy, Distal Type V	Distal Hereditary Motor Neuropathy Type 5
Neuronopathy, Distal Hereditary Motor, 5a	Dhmn V
Distal Hereditary Motor Neuronopathy Type Va	Distal Hereditary Motor Neuropathy Type Va
Dsma-V	Hmn Va
Spinal Muscular Atrophy Distal Type V	Spinal Muscular Atrophy Distal Type Va
Spinal Muscular Atrophy Distal With Upper Limb Predominance	Neuropathy, Distal Hereditary Motor, Type V
Neuropathy, Motor, Distal, Hereditary, Type Va

Lennox-Gastaut Syndrome

Lennox Syndrome	Encephalopathy Of Childhood
Epileptic Encephalopathy Lennox-Gastaut Type	Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
Lgs

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness	Ovarian Dysgenesis With Sensorineural Deafness
Gonadal Dysgenesis, Xx Type	Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance	Xx Gonodal Dysgenesis-Deafness Syndrome
Xx Gonodal Dysgenesis-Hearing Loss Syndrome	Gonadal Dysgenesis Xx Type Deafness

46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis	Gonadal Dysgenesis, 46,Xx
Dysgenesis, Ovarian

Necrotizing Fasciitis

Fasciitis, Necrotizing

Gastric Ulcer

Stomach Ulcer	Acute Gastric Ulcer With Haemorrhage And Perforation
Acute Gastric Ulcer With Hemorrhage And Obstruction	Acute Gastric Ulcer With Hemorrhage And Perforation
Acute Gastric Ulcer With Hemorrhage And Perforation, With Obstruction	Acute Gastric Ulcer With Hemorrhage And Perforation, Without Mention Of Obstruction
Acute Gastric Ulcer With Hemorrhage And With Perforation But Without Obstruction	Acute Gastric Ulcer With Hemorrhage, With Obstruction
Acute Gastric Ulcer With Hemorrhage, With Perforation And With Obstruction	Acute Gastric Ulcer With Perforation
Acute Gastric Ulcer With Perforation And Obstruction	Acute Gastric Ulcer With Perforation, With Obstruction
Acute Gastric Ulcer Without Hemorrhage And Without Perforation	Acute Gastric Ulcer Without Hemorrhage, Without Perforation And Without Obstruction
Acute Gastric Ulcer Without Mention Of Hemorrhage Or Perforation, Without Mention Of Obstruction	Bleeding Acute Gastric Ulcer
Chronic Gastric Ulcer Without Hemorrhage And Without Perforation	Chronic Gastric Ulcer Without Hemorrhage And Without Perforation But With Obstruction
Chronic Gastric Ulcer Without Mention Of Hemorrhage Or Perforation, With Obstruction	Gastric Ulcers
Cushings Ulcer	Cushing'S Ulcer Of Stomach
Peptic Ulcer Of Stomach	Mucosal Defect Of The Stomach

Pervasive Developmental Disorder

Pervasive Development Disorder	Pervasive Developmental Disorders
Pervasive Child Development Disorders	Autistic Behavior
Autism Spectrum Disorders

Central Nervous System Disease

Cns Disorder	CNS
Cns Diseases	Central Nervous System Diseases

Muscular Disease

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

Pelizaeus-Merzbacher Disease

PMD	HLD1
Pelizaeus-Merzbacher Brain Sclerosis	Leukodystrophy, Hypomyelinating, 1
Diffuse Familial Brain Sclerosis	Pelizaeus Merzbacher Brain Sclerosis
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type	Cockayne-Pelizaeus-Merzbacher Disease
Hypomyelinating Leukodystrophy 1	Leukodystrophy, Sudanophilic
Pelizaeus Merzbacher Disease	Hypomyelinating Leukodystrophy, 1
Sudanophilic Leukodystrophy	Pelizaeus-Merzbacher Disease, Connatal Form
Connatal Pmd	Pelizaeus-Merzbacher Disease Type Ii
Severe Pmd	Null Syndrome
Plp1 Null Syndrome	Pelizaeus-Merzbacher Disease, Null Syndrome
Brain Sclerosis Diffuse Familial	Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
Leukodystrophy Hypomyelinating 1	Diffuse Cerebral Sclerosis Of Schilder

Inner Ear Disease

Labyrinthine Dysfunction	Diseases Of Inner Ear
Labyrinthine Disease	Abnormality Of The Inner Ear
Labyrinth Diseases	Labyrinthine Disorder
Nonfunctioning Labyrinth	Labyrinthine Loss Of Function
Labyrinthine Syndrome	Labyrinthine Disorder Nos

Usher Syndrome, Type Iiia

Usher Syndrome Type 3	Ush3
Usher Syndrome Type 3a	USH3A
Usher Syndrome, Type Iii	Usher Syndrome, Type 3
Usher Syndrome, Type 3a	Usher Syndrome Type Iiia
Usher Syndrome 3a	Usher'S Syndrome Type 3
Usher Syndrome Iii	Usher Syndrome Type Iii

Epilepsy, Idiopathic Generalized 3

EIG3	Idiopathic Generalized Epilepsy 3
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Epilepsy, Idiopathic Generalized Locus On Chromosome 9
Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 9	Epilepsy, Idiopathic Generalized, Susceptibility To 3

Disease By Infectious Agent

Infectious Disease

Infectious Diseases

Peripheral Nervous System Disease

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

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Integumentary System Disease

Urinary Tract Infection

Urinary Tract Infections	Uti
Urinary Tract Infection Nos	Uti - [Urinary Tract Infection]
Uti Nos - [Urinary Tract Infection Nos]	Urosepsis Nos
E Coli Uti	E Coli Urinary Tract Infection
Escherichia Coli Uti

Inherited Metabolic Disorder

Inborn Errors Of Metabolism	Inborn Metabolic Disorder
Inborn Metabolism Disorder	Metabolic Hereditary Disorder
Inborn Error Of Metabolism	Metabolism, Inborn Errors

Acquired Metabolic Disease

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Cardiovascular System Disease

Abnormality Of The Cardiovascular System	Cardiovascular Disease
Disease Of Subdivision Of Hemolymphoid System	Disorder Of Cardiovascular System
Cardiovascular Diseases

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome	MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes	Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Idiopathic Interstitial Pneumonia

Hamman-Rich Syndrome	Diffuse Idiopathic Pulmonary Fibrosis
Idiopathic Fibrosing Alveolitis	Ipf
Idiopathic Interstitial Pneumonias	Idiopathic Interstitial Pneumonia, Not Otherwise Specified
Pulmonary Fibrosis

Cerebrovascular Disease

Cerebrovascular Disorder	Cerebrovascular Accident
Cerebrovascular Disorders	Cva
Stroke

Cleft Palate, Cardiac Defects, And Mental Retardation

Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies	CPCMR
Cleft Palate, Cardiac Defects, And Intellectual Disabillity	Cleft Palate, Cardiac Defects, And Intellectual Disability
Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

Epilepsy, Idiopathic Generalized 2

EIG2	Epilepsy, Idiopathic Generalized, Susceptibility To, 2
Idiopathic Generalized Epilepsy 2	Epilepsy, Idiopathic Generalized Locus On Chromosome 14
Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 14

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Meningoencephalitis

Acquired Toxoplasmal Meningoencephalitis	Meningoencephalitis Due To Acquired Toxoplasmosis
Meningoencephalitis Due To Toxoplasmosis	Toxoplasma Meningoencephalitis

Refractive Error

Refractive Errors

Premature Ovarian Failure 18

POF18	Primary Ovarian Insufficiency 18
Ovarian Failure, Premature, Type 18

Sleeping Sickness

African Trypanosomiasis	African Sleeping Sickness
Trypanosomiasis, Human East-African	Trypanosomiasis, East African
Trypanosomiasis African	Trypanosomiasis, African
Human African Trypanosomiasis

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Organic Acidemia

Organic Aciduria	Disorder Of Organic Acid Metabolism
Organic Acid Metabolism Disorder	Organic Acidemias
Inherited Organic Acidemia	Organic Acidurias
Aciduria Organic

Asthma

Chronic Obstructive Asthma	Asthma, Diminished Response To Antileukotriene Treatment In
Bronchial Hyperreactivity	Asthma, Susceptibility To
Asthma, Bronchial	Asthma, Protection Against
Asthma, Nocturnal, Susceptibility To	Nocturnal Asthma
Asthma-Related Traits	Asthma-Related Traits, Susceptibility To
Asthma, Nocturnal	Chronic Obstructive Asthma With Acute Exacerbation
Chronic Obstructive Asthma With Status Asthmaticus	Exercise Induced Asthma
Exercise-Induced Asthma	Bronchial Asthma
Asthma, Exercise-Induced	Idiosyncratic Asthma
Unspecified Asthma With Acute Exacerbation	Asthma, Unspecified, With Stated Status Asthmaticus
Status Asthmaticus Nos	Acute Severe Asthma
Acute Severe Bronchial Asthma	Status Asthma
Status Post Asthmaticus

Oligohydramnios

Oligohydramnios - Delivered	Antepartum Oligohydramnios
Delivered Oligohydramnios	Oligohydramnios, Antepartum Condition Or Complication
Deficient Liquor	Oligohydramnios, Unspecified Trimester
Reduced Liquor Volume

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Cranial Nerve Disease

Cranial Nerve Disorder	Disorder Of Cranial Nerve
Cranial Nerve Diseases

Respiratory System Disease

Abnormality Of The Respiratory System	Respiration Disorders
Respiratory Tract Diseases

Interstitial Lung Disease

Ild	Lung Diseases, Interstitial
Lung Diseases Interstitial	Interstitial Lung Diseases

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Vascular Disease

Vascular Diseases	Aneurysm
Spinal Cord Ischemia	Vascular Anomaly
Spinal Cord Vascular Diseases	Vascular Tissue Disease

Optic Nerve Disease

Optic Neuropathy	Disorder Of The Second Nerve
Optic Nerve Disorder	Optic Nerve
Abnormality Of The Optic Nerve	Optic Nerve Disorders
Neuropathy, Optic	Disorder Of The Optic Nerve

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Carbohydrate Metabolic Disorder

Inborn Errors Of Carbohydrate Metabolism	Disorder Of Carbohydrate Metabolism
Carbohydrate Metabolism, Inborn Errors	Disorder Of Carbohydrate Transport And Metabolism
Inborn Carbohydrate Metabolism Disorder	Inborn Carbohydrate Metabolic Disorder
Carbohydrate Metabolism Disorder	Carbohydrate Metabolism Disorders
Disorders Of Carbohydrate Metabolism	Congenital Disorders Of Carbohydrate Metabolism
Inherited Disorders Of Carbohydrate Metabolism

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type	CHH
Mckusick Type Metaphyseal Chondrodysplasia	Metaphyseal Dysplasia Without Hypotrichosis
Cartilage Hair Hypoplasia Like Syndrome	Metaphyseal Chondrodysplasia Mckusick Type
Chhv	Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only
Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency	Cartilage-Hair Syndrome
Mckusick'S Metaphyseal Chondrodysplasia Syndrome	Metaphyseal Chondrodysplasia, Recessive Type
Autosomal Recessive Metaphyseal Chondrodysplasia

Trypanosomiasis

Glucose Metabolism Disease

Glucose Metabolism Disorders

Disorder Of Glucose Metabolism

Immune System Disease

Abnormality Of The Immune System	Immune System And Disorders
Immune System Diseases

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

Spastic Ataxia

Spax	Ataxia, Spastic

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

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

Psychotic Disorder

Psychotic Disorders	Mental Or Behavioural Disorder
Psychotic	Mental Disorders

Hereditary Ataxia

Sca	Spinocerebellar Ataxia
Ataxias Hereditary	Ataxias, Hereditary

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Movement Disease

Movement Disorders

Movement Disorder

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Connective Tissue Disease

Connective Tissue Diseases	Connective Tissue Disorder
Abnormality Of Connective Tissue	Disorder Of Connective Tissue
Connective Tissue Disorders

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Motor Neuron Disease

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

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Immune Deficiency Disease

Immunodeficiency	Primary Immunodeficiency
Primary Immunodeficiency Disease	Immunologic Deficiency Syndromes
Hypoimmunity	Immune Deficiency Disorder
Immunodeficiency Syndrome	Immune Disorder
Primary Immune Deficiency Disorder	Immune System Diseases
Human Immunodeficiency Virus Infection	Hiv - [Human Immunodeficiency Virus Infection]
Hiv Positive Nos	Hiv Disease
Acquired Immune Deficiency Syndrome-Related Complex	Aids-Like Syndrome
Aids-Related Complex Nos	Arc - [Aids-Related Complex]
Immunodeficiency Due To Human Immunodeficiency Virus Infection	Unspecified Human Immunodeficiency Virus Disease
Hiv Disease Nos	Human Immunodeficiency Virus Positive Nos
Hiv Nos	Deficiency Of Complement Initial Pathway
Deficiency Of Complement Terminal Pathway	Cfdd - [Complement Factor D Deficiency]
Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency	Nonfamilial Hypogammaglobulinaemia
Common Variable Immune Deficiency	Nonfamilial Agammaglobulinaemia
Common Variable Agammaglobulinaemia	Agammaglobulinaemia Nos
Agammaglobulinaemia Antibody Deficiency Syndrome	Hypogammaglobulinaemia Antibody Deficiency Syndrome
Acquired Agammaglobulinaemia Nos	Hypogammaglobulinaemia Nos
Hyper Igm

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

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Myopathy

Muscular Diseases

Myopathies

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04451	EPRS1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	EPRS1	MGD	MGI:97838
Macaca mulatta	EPRS1	VGNC	VGNC:72247
Rattus norvegicus	EPRS1	RGD	RGD:1310952
Felis catus	EPRS1	VGNC	VGNC:61917
Bos taurus	EPRS1	VGNC	VGNC:28552
Canis familiaris	EPRS1	VGNC	VGNC:40425