GARS1 - glycyl-tRNA synthetase 1 Gene

Also Known as GARS; HMN5; CMT2D; DSMAV; GlyRS; HMN5A; SMAD1; SMAJI

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2617

About GARS1

Cytogenetic location: 7p14.3 Genomic coordinates (GRCh38): 7:30,594,735-30,634,033 (from NCBI)

This gene has 33 transcripts (splice variants), 233 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in thyroid (RPKM 31.7), testis (RPKM 29.9) and 25 other tissues.

Summary

This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate Amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GARS1 Products (2)

mRNA Protein Name
NM_001316772.1 NP_001303701.1 glycine--tRNA ligase isoform 2
NM_002047.4 NP_002038.2 glycine--tRNA ligase isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity IDA
IDA: Inferred from direct assay
19710017 GOA
enables glycine-tRNA ligase activity IDA
IDA: Inferred from direct assay
17544401 GOA
enables glycine-tRNA ligase activity IMP
IMP: Inferred from mutant phenotype
28675565 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
17545306 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17545306 GOA
enables protein dimerization activity IDA
IDA: Inferred from direct assay
17544401 GOA
Biological Process GO Annotation Evidence References Source
involved in diadenosine tetraphosphate biosynthetic process IDA
IDA: Inferred from direct assay
19710017 GOA
involved in tRNA aminoacylation for protein translation IMP
IMP: Inferred from mutant phenotype
28675565 GOA
Cellular Component GO Annotation Evidence References Source
located in axon IDA
IDA: Inferred from direct assay
17035524 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

GARS1 Protein Structure

WHEP-TRS

WHEP-TRS: WHEP-TRS domain (67 - 121)

tRNA-synt_2b

tRNA-synt_2b: tRNA synthetase class II core domain (G, H, P, S and T) (157 - 451)

HGTP_anticodon

HGTP_anticodon: Anticodon binding domain (615 - 708)

  • 0
  • 200
  • 400
  • 600
  • 739 a.a.
Protein Preferred Names Protein Names

glycine--tRNA ligase

  • AP-4-A synthetase

GARS1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GARS1 P41250 GARS1 Homo sapiens P41250 17595294
Cross
GARS1 P41250 Gars1 Mus musculus Q9CZD3 17595294
Intra
GARS1 P41250 GARS1 Homo sapiens P41250 17545306
Intra
GARS1 P41250 GARS1 Homo sapiens P41250 17545306
Cross
GARS1 P41250 Gars1 Mus musculus Q9CZD3 17545306
Intra
GARS1 P41250 GARS1 Homo sapiens P41250
GMS
17545306
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GARS1 Proteins

Cat. No. Product Name Accession Purity
HY-P74128 GARS Protein, Human (sf9, His) P41250-1/NP_002038.2 (M1-E739) ≥ 85%, as determined by reducing SDS-PAGE.

GARS1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83309 GARS Antibody (YA3054) WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
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

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

Spinal Muscular Atrophy, Infantile, James Type
  • SMAJI

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

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

Hyperekplexia
  • Hereditary Hyperekplexia

  • Kok Disease

  • Congenital Stiff Man Syndrome

  • Familial Startle Disease

  • Sthe

  • Stiff-Baby Syndrome

  • Hereditary Hyperexplexia

  • Startle Disease

  • Exaggerated Startle Reaction

  • Hyperexplexia Hereditary

  • Startle Disease, Familial

  • Startle Reaction, Exaggerated

  • Stiff-Man Syndrome, Congenital

  • Stiff-Person Syndrome, Congenital

  • Congenital Stiff-Man Syndrome

  • Congenital Stiff-Person Syndrome

  • Familial Hyperekplexia

  • Startle Syndrome

  • Stiff Baby Syndrome

  • Hyperekplexia, Hereditary

  • Stiff-Person Syndrome

Motor Peripheral Neuropathy
  • Motor Neuritis

  • Peripheral Motor Neuropathy

  • Hereditary Motor And Sensory Neuropathy

  • Hsmn

  • Hsmn - Hereditary Sensory And Motor Neuropathy

  • Neuropathic Muscular Atrophy

  • Hereditary Sensory And Motor Neuropathy

  • Hereditary Motor And Sensory Neuropathies

Polymyositis
  • Pm - [Polymyositis]

Dermatomyositis
  • Amyopathic Dermatomyositis

  • Dermatopolymyositis

  • Adult Dermatomyositis

  • Polymyositis With Skin Involvement

  • Adult Type Dermatomyositis

  • Petges-Clejat Syndrome

Spinal Muscular Atrophy
  • Sma

  • 5q Sma

  • Proximal Sma

  • Sma-Associated Sma

  • Spinal Amyotrophies

  • Spinal Amyotrophy

  • Spinal Muscle Degeneration

  • Spinal Muscle Wasting

  • Muscular Atrophy Spinal

  • Atrophy, Muscular, Spinal

  • Hereditary Motor Neuronopathy

  • Progressive Muscular Atrophy

  • Sma - [Spinal Muscular Atrophy]

Muscular Atrophy
  • Muscle Wasting

  • Amyotrophia

  • Wasting - Muscle

  • Skeletal Muscle Atrophy

Charcot-Marie-Tooth Hereditary Neuropathy
  • Distal Spinal Muscular Atrophy

  • Distal Hereditary Motor Neuropathy

  • Dhmn

  • Hereditary Motor/Sensory Neuropathy

  • Hmsn

  • Dsma

  • Distal Hereditary Motor Neuropathies

  • Spinal Muscular Atrophy Distal

  • Neuropathy, Motor, Distal, Hereditary

  • Charcot-Marie-Tooth Disease

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

Myositis
  • Idiopathic Inflammatory Myopathy

  • Idiopathic Inflammatory Myositis

  • Iim

  • Imm

  • Idiopathic Inflammatory Myopathies

  • Myopathy, Familial Idiopathic Inflammatory

  • Inflammatory Disorder Of Muscle

  • Idiopathic Inflammatory Myopathy, Familial

  • Inflammatory Myopathy, Idiopathic

  • Myopathies Idiopathic Inflammatory

  • Familial Idiopathic Inflammatory Myopathy

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 2l
  • Charcot-Marie-Tooth Disease Axonal Type 2l

  • CMT2L

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l

  • Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2l

  • Charcot-Marie-Tooth Disease 2l

  • Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l

  • Charcot-Marie-Tooth Disease Neuronal Type 2l

  • Charcot-Marie-Tooth Neuropathy Type 2l

  • Charcot-Marie-Tooth Disease, Type 2l

  • Charcot-Marie-Tooth Disease, Type 2i

Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Tooth Disease
  • Tooth Diseases

  • Teeth Disease

  • Tooth Disorders

Charcot-Marie-Tooth Disease And Deafness
  • Charcot-Marie-Tooth Disease Type 1e

  • CMT1E

  • Charcot-Marie-Tooth Disease Type 1

  • Hereditary Motor And Sensory Neuropathy Type 1

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

  • Charcot-Marie-Tooth Disease, Type I

  • Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant

  • Charcot-Marie-Tooth Disease, Type 1e

  • Charcot-Marie-Tooth Disease Demyelinating Type 1e

  • Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease

  • Cmt1

  • Charcot-Marie-Tooth Neuropathy Type 1

  • Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness

  • Charcot-Marie-Tooth Disease-Deafness

  • Charcot-Marie-Tooth Type 1

  • Hmsn1

  • Hereditary Motor And Sensory Neuropathy 1

  • Cmt 1e

  • Charcot Marie Tooth Disease Type 1e

  • Charcot-Marie-Tooth Disease-Deafness Syndrome

  • Charcot-Marie-Tooth Disease-Hearing Loss Syndrome

  • Charcot-Marie-Tooth Disease 1e

  • Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant

  • Charcot-Marie-Tooth Neuropathy Type 1e

  • Charcot-Marie-Tooth Disease, Type Ie

  • Hereditary Motor And Sensory Neuropathy Type I

Charcot-Marie-Tooth Disease, Axonal, Type 2f
  • Charcot-Marie-Tooth Disease Axonal Type 2f

  • CMT2F

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2f

  • Charcot-Marie-Tooth Neuropathy, Type 2f

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f

  • Charcot-Marie-Tooth Neuropathy Type 2f

  • Charcot-Marie-Tooth Neuronal Type 2f

  • Charcot-Marie-Tooth Disease Type 2f

  • Cmt 2f

  • Charcot Marie Tooth Disease Type 2f

  • Charcot-Marie-Tooth Disease 2f

  • Charcot-Marie-Tooth Disease Neuronal Type 2f

  • Charcot-Marie-Tooth Disease, Type 2f

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

Charcot-Marie-Tooth Disease, Recessive Intermediate B
  • Charcot-Marie-Tooth Disease Recessive Intermediate B

  • CMTRIB

  • Ri-Cmtb

  • Charcot-Marie-Tooth Disease, Recessive Intermediate, B

  • Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B

  • Charcot-Marie-Tooth Neuropathy Recessive Intermediate B

  • Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B

  • Ri-Cmt Type B

  • Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B

Charcot-Marie-Tooth Disease, Axonal, Type 2i
  • CMT2I

  • Charcot-Marie-Tooth Disease, Type 2i

  • Charcot-Marie-Tooth Disease Type 2i

  • Charcot-Marie-Tooth Neuropathy Type 2i

  • Charcot-Marie-Tooth Neuropathy, Type 2i

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i

  • Charcot-Marie-Tooth Disease 2i

  • Charcot-Marie-Tooth Disease Axonal Type 2i

  • Charcot-Marie-Tooth Disease Neuronal Type 2i

Autosomal Dominant Distal Hereditary Motor Neuronopathy
  • Autosomal Dominant Distal Hereditary Motor Neuropathy

  • Autosomal Dominant Dhmn

  • Autosomal Dominant Distal Spinal Muscular Atrophy

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

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

Charcot-Marie-Tooth Disease, Axonal, Type 2b
  • Charcot-Marie-Tooth Disease Type 2b

  • CMT2B

  • Hmsn Iib

  • Hmsn2b

  • Charcot-Marie-Tooth Disease, Type 2b

  • Hereditary Motor And Sensory Neuropathy Iib

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b

  • Charcot-Marie-Tooth Neuropathy Type 2b

  • Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b

  • Charcot-Marie-Tooth Neuropathy, Type 2b

  • Hereditary Motor And Sensory Nueropathy Iib

  • Cmt 2b

  • Charcot Marie Tooth Disease Type 2b

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2b

  • Hereditary Motor And Sensory Neuropathy 2 B

  • Peripheral Sensory Neuropathy, Autosomal Dominant

  • Charcot-Marie-Tooth Disease 2b

  • Charcot-Marie-Tooth Disease Axonal Type 2b

  • Charcot-Marie-Tooth Disease Neuronal Type 2b

  • Peripheral Sensory Neuropathy Autosomal Dominant

  • Psn

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

Hereditary Motor And Sensory Neuropathy, Type Iic
  • CMT2C

  • Charcot-Marie-Tooth Disease Axonal Type 2c

  • HMSN2C

  • Hmsn Iic

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c

  • Charcot-Marie-Tooth Neuropathy Type 2c

  • Hereditary Motor And Sensory Neuropathy Type Iic

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c

  • Charcot-Marie-Tooth Neuropathy, Type 2c

  • Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c

  • Charcot-Marie-Tooth Disease 2c

  • Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c

  • Charcot-Marie-Tooth Disease, Type 2c

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
  • Smard1

  • DSMA1

  • Sianrf

  • Dhmn6

  • Spinal Muscular Atrophy With Respiratory Distress 1

  • HMN6

  • Severe Infantile Axonal Neuropathy With Respiratory Failure

  • Autosomal Recessive Distal Spinal Muscular Atrophy 1

  • Diaphragmatic Spinal Muscular Atrophy

  • Spinal Muscular Atrophy With Respiratory Distress Type 1

  • Neuronopathy, Distal Hereditary Motor, Type Vi

  • Hmn Vi

  • Neuronopathy, Severe Infantile Axonal, With Respiratory Failure

  • Distal Spinal Muscular Atrophy 1

  • Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress

  • Distal Hereditary Motor Neuropathy Type 6

  • Distal-Hmn Type 6

  • Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1

  • Spinal Muscular Atrophy, Diaphragmatic

  • Distal Hereditary Motor Neuronopathy Type Vi

  • Distal Spinal Muscular Atrophy Type 1

  • Hmnvi

  • Spinal Muscular Atrophy With Respiratory Distress

  • Autosomal Recessive Distal Spinal Muscular Atrophy Type 1

  • Neuronopathy, Distal Hereditary Motor, 6

  • Dhmn Vi

  • Distal Hereditary Motor Neuropathy Type Vi

  • Severe Infantile Axonal Neuronopathy With Respiratory Failure

  • Spinal Muscular Atrophy Distal Autosomal Recessive 1

  • Atrophy, Muscular, Spinal, Distal, Type 1

Charcot-Marie-Tooth Disease, Axonal, Type 2a1
  • CMT2A1

  • Charcot-Marie-Tooth Disease Type 2a1

  • Hereditary Motor And Sensory Neuropathy Iia1

  • Hmsn Iia1

  • Hmsn2a1

  • Charcot-Marie-Tooth Disease, Type 2a1

  • Charcot-Marie-Tooth Disease Neuronal Type 2a1

  • Charcot-Marie-Tooth Neuropathy Type 2a1

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2a1

  • Charcot-Marie-Tooth Neuropathy, Type 2a1

  • Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1

  • Charcot-Marie-Tooth Disease 2a1

  • Charcot-Marie-Tooth Disease Axonal Type 2a1

Neuronopathy, Distal Hereditary Motor, Type Iib
  • HMN2B

  • Hmn Iib

  • Neuropathy, Distal Hereditary Motor, Type Iib

  • Dhmn2b

  • Distal Hereditary Motor Neuropathy Type 2b

  • Distal Hereditary Motor Neuropathy Type Iib

  • Neuronopathy, Distal Hereditary Motor, Type 2b

  • Neuronopathy, Distal Hereditary Motor, 2b

  • Dhmn Ii

  • Neuropathy, Motor, Distal, Hereditary, Type 2b

Autosomal Recessive Distal Hereditary Motor Neuronopathy
  • Autosomal Recessive Distal Spinal Muscular Atrophy

Scapuloperoneal Spinal Muscular Atrophy
  • SPSMA

  • Amyotrophy, Neurogenic Scapuloperoneal, New England Type

  • Neurogenic Scapuloperoneal Amyotrophy, New England Type

  • Scapuloperoneal Neuronopathy

  • Spinal Muscular Atrophy, Scapuloperoneal

  • Amyotrophy Neurogenic Scapuloperoneal New England Type

  • Muscular Atrophy, Spinal

  • Scapuloperoneal Form Of Spinal Muscular Atrophy

Charcot-Marie-Tooth Disease, Demyelinating, Type 1b
  • Charcot-Marie-Tooth Disease Type 1b

  • CMT1B

  • Hereditary Motor And Sensory Neuropathy Ib

  • Hmsn Ib

  • Hmsn1b

  • Peroneal Muscular Atrophy

  • Charcot-Marie-Tooth Disease, Type 1b

  • Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy

  • Charcot-Marie-Tooth Neuropathy Type 1b

  • Charcot-Marie-Tooth Disease, Type Ib

  • Hereditary Motor And Sensory Neuropathy I

  • Hmsn I

  • Hmsn1

  • Charcot-Marie-Tooth Neuropathy, Type 1b

  • Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy

  • Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b

  • Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b

  • Charcot-Marie-Tooth Disease 1b

  • Charcot-Marie-Tooth Disease Demyelinating Type 1b

  • Hmsn Type I

  • Hereditary Motor And Sensory Neuropathy Type I

  • Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
  • CMTX1

  • Cmtx

  • Charcot-Marie-Tooth Disease X-Linked Dominant 1

  • Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1

  • X-Linked Charcot-Marie-Tooth Disease

  • Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked

  • Cmt1x

  • X-Linked Charcot-Marie-Tooth Disease Type 1

  • X-Linked Hereditary Motor And Sensory Neuropathy

  • Hereditary Motor And Sensory Neuropathy, X-Linked

  • Hmsn, X-Linked

  • Charcot-Marie-Tooth Neuropathy, X-Linked, 1

  • Cmt2, Formerly

  • Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1

  • Charcot-Marie-Tooth Neuropathy X-Linked 1

  • Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked

  • Hereditary Motor And Sensory Neuropathy X-Linked

  • Hmsn X-Linked

  • Charcot-Marie-Tooth, X-Linked

  • Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1

  • Charcot-Marie-Tooth Disease, X-Linked, 1

Usher Syndrome, Type Iiib
  • Usher Syndrome Type 3b

  • USH3B

  • Usher Syndrome Type Iiib

  • Usher Syndrome 3b

Charcot-Marie-Tooth Disease, Demyelinating, Type 1d
  • Charcot-Marie-Tooth Disease Type 1d

  • CMT1D

  • Hmsn Id

  • Hmsn1d

  • Charcot-Marie-Tooth Disease, Type 1d

  • Hereditary Motor And Sensory Neuropathy 1d

  • Charcot-Marie-Tooth Neuropathy Type 1d

  • Charcot-Marie-Tooth Neuropathy, Type 1d

  • Charcot-Marie-Tooth Disease 1d

  • Charcot-Marie-Tooth Disease Demyelinating Type 1d

  • Hereditary Motor And Sensory Neuropathy Id

  • Charcot-Marie-Tooth Disease, Type Id

Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a
  • Charcot-Marie-Tooth Disease Type 1a

  • CMT1A

  • Charcot-Marie-Tooth Disease, Type Ia

  • Hmsn1a

  • Hereditary Motor And Sensory Neuropathy Ia

  • Hmsn Ia

  • Charcot-Marie-Tooth Neuropathy, Type 1a

  • Charcot-Marie-Tooth Disease, Type 1a

  • Charcot-Marie-Tooth Neuropathy Type 1a

  • Hereditary Motor And Sensory Neuropathy 1a

  • Microduplication 17p12

  • Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a

  • Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a

  • Cmt 1a

  • Charcot Marie Tooth Disease Type 1a

  • Hmsn 1a

  • Charcot-Marie-Tooth Disease 1a

  • Charcot-Marie-Tooth Disease Demyelinating Type 1a

  • Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy

Charcot-Marie-Tooth Disease, Type 4a
  • Charcot-Marie-Tooth Disease Type 4a

  • CMT4A

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a

  • Charcot-Marie-Tooth Neuropathy, Type 4a

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a

  • Charcot-Marie-Tooth Neuropathy Type 4a

  • Charcot-Marie-Tooth Disease 4a

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a

  • Charcot-Marie-Tooth Disease Neuropathy Type 4a

Spastic Paraplegia 17, Autosomal Dominant
  • Silver Syndrome

  • SPG17

  • Silver Spastic Paraplegia Syndrome

  • Spastic Paraplegia With Amyotrophy Of Hands And Feet

  • Hereditary Spastic Paraplegia 17

  • Autosomal Dominant Spastic Paraplegia Type 17

  • Spastic Paraplegia 17

  • Spastic Paraplegia-Amyotrophy Of Hands And Feet

  • Autosomal Dominant Spastic Paraplegia 17

  • Dhmn5b

  • Distal Hereditary Motor Neuropathy Type 5b

  • Paraplegia, Spastic, Autosomal Dominant, Type 17

  • Russell-Silver Syndrome

  • Neuronopathy, Distal Hereditary Motor, Type Vb

Pontocerebellar Hypoplasia, Type 6
  • Pontocerebellar Hypoplasia Type 6

  • PCH6

  • Fatal Infantile Encephalopathy With Mitochondrial Respiratory Chain Defects

  • Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects

  • Encephalopathy Fatal Infantile With Mitochondrial Respiratory Chain Defects

  • Pontocerebellar Hypoplasia 6

  • Hypoplasia, Pontocerebellar, Type 6

Neuropathy, Hereditary, With Liability To Pressure Palsies
  • Tomaculous Neuropathy

  • Hereditary Neuropathy With Liability To Pressure Palsies

  • HNPP

  • Polyneuropathy, Familial Recurrent

  • Neuropathy, Recurrent, With Pressure Palsies

  • Current Pressure-Sensitive Neuropathy

  • Familial Recurrent Polyneuropathy

  • Heterozygous Microdeletion 17p11.2p12

  • Potato-Grubbing Palsy

  • Tulip-Bulb Digger'S Palsy

  • Compression Neuropathy

  • Entrapment Neuropathy

  • Familial Pressure Sensitive Neuropathy

  • Hereditary Motor And Sensory Neuropathy

  • Hereditary Pressure Sensitive Neuropathy

  • Inherited Tendency To Pressure Palsies

  • Hereditary Liability To Pressure Palsies

  • Nerve Compression Syndrome

  • Entrapment Neuropathies

  • Hereditary Motor And Sensory Neuropathies

Charcot-Marie-Tooth Disease, Axonal, Type 2b2
  • Charcot-Marie-Tooth Disease Type 2b2

  • CMT2B2

  • Arcmt2b

  • Charcot-Marie-Tooth Disease, Type 2b2

  • Ar-Cmt2b2

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2

  • Autosomal Recessive Axonal Cmt4c3

  • Charcot-Marie-Tooth Disease Neuronal Type 2b2

  • Charcot-Marie-Tooth Neuropathy Type 2b2

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2b2

  • Charcot-Marie-Tooth Neuropathy, Type 2b2

  • Charcot-Marie-Tooth Disease 2b2

  • Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2

  • Charcot-Marie-Tooth Disease Axonal Type 2b2

Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
  • Charcot-Marie-Tooth Disease Type 4f

  • CMT4F

  • Charcot-Marie-Tooth Disease, Type 4f

  • Charcot-Marie-Tooth Disease 4f

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f

  • Charcot-Marie-Tooth Neuropathy Type 4f

  • Dejerine-Sottas Disease

Charcot-Marie-Tooth Disease, Type 4b2
  • Charcot-Marie-Tooth Disease Type 4b2

  • CMT4B2

  • Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2

  • Charcot-Marie-Tooth Neuropathy, Type 4b2

  • Charcot-Marie-Tooth Neuropathy Type 4b2

  • Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2

  • Cmt 4b2

  • Charcot Marie Tooth Disease Type 4b2

  • Charcot-Marie-Tooth Disease 4b2

  • Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

Hypertrophic Neuropathy Of Dejerine-Sottas
  • Dejerine-Sottas Disease

  • Dejerine-Sottas Syndrome

  • Charcot-Marie-Tooth Disease Type 3

  • DSS

  • Hereditary Motor And Sensory Neuropathy Type Iii

  • Hmsn3

  • Dejerine-Sottas Neuropathy

  • Hmsn Iii

  • Charcot-Marie-Tooth Disease, Type 3

  • Cmt3

  • Dsn

  • Hmsn 3

  • Hereditary Motor And Sensory Neuropathy Type 3

  • Hereditary Motor And Sensory Neuropathy 3

  • Hypertrophic Neuropathy Of Infancy

  • Charcot-Marie-Tooth Disease Demyelinating Type 4f

  • Charcot-Marie-Tooth Disease Type 4f

  • Charcot-Marie-Tooth Neuropathy Type 4f

  • Cmt4f

  • Hereditary Motor And Sensory Neuropathy Iii

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Neuropathy, Hereditary Sensory, Type Ie
  • HSN1E

  • Hsn Ie

  • Hereditary Sensory Neuropathy Type 1e

  • Hereditary Sensory Neuropathy Type Ie

  • Hsan 1

  • Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia

  • Hereditary Sensory Neuropathy Type 1

  • Hsn1

  • Hereditary Sensory And Autonomic Neuropathy Type 1

  • Neuropathy Hereditary Sensory And Autonomic Type 1

  • Neuropathy Hereditary Sensory Radicular, Autosomal Dominant

  • Neuropathy, Hereditary Sensory, 1e

  • Neuropathy Hereditary Sensory With Hearing Loss And Dementia

  • Neuropathy, Hereditary Sensory, Type I

  • Neuropathy, Sensory, Hereditary, Type Ie

  • Hereditary Sensory And Autonomic Neuropathy Type Ie

  • Hereditary Sensory Autonomic Neuropathy, Type 1

Spinal Muscular Atrophy With Lower Extremity Predominant
  • Spinal Muscular Atrophy With Lower Extremity Predominance

  • Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures

  • Kugelberg-Welander Syndrome, Autosomal Dominant

  • Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures

  • Sma-Led

  • Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant

  • Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant

  • Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

  • Spinal Muscular Atrophy, Lower Extremity, Dominant

Cerebral Angioma
  • Hemangioma Of Cerebrum

  • Cerebral Hemangioma

Distal Hereditary Motor Neuronopathy Type 2
  • Distal Hereditary Motor Neuropathy, Type Ii

  • Distal Hereditary Motor Neuropathy Type 2

  • Distal Hereditary Motor Neuropathy Type Ii

  • Hmn Ii

  • Hmn2

  • Distal Hereditary Motor Neuronopathy, Type Ii

  • Distal Spinal Muscular Atrophy Type 2

  • Dhmn2

  • Dsma2

  • Neuropathy, Motor, Distal, Hereditary, Type Ii

  • Spinal Muscular Atrophy, Jerash Type

Glycine Encephalopathy
  • Non-Ketotic Hyperglycinemia

  • Nonketotic Hyperglycinemia

  • NKH

  • GCE

  • Hyperglycinemia, Nonketotic

  • Hyperglycinemia Nonketotic

  • Infantile Glycine Encephalopathy

  • Encephalopathy, Glycine

  • Glycine Synthase Deficiency

  • Nka

  • Neonatal Glycine Encephalopathy

  • Classic Glycine Encephalopathy

  • Neonatal Nkh

  • Neonatal Non-Ketotic Hyperglycinemia

  • Infantile Nkh

  • Infantile Non-Ketotic Hyperglycinemia

  • Non-Ketotic Hyperglycinaemia

  • Glycine Cleavage Deficiency

  • Nonketotic Hyperglycinaemia

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

Scoliosis
Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Pontocerebellar Hypoplasia
  • Pch

  • Congenital Pontocerebellar Hypoplasia

  • Opch

  • Hypoplasia, Pontocerebellar

  • Pontoneocerebellar Hypoplasia

  • Nonsyndromic Pontocerebellar Hypoplasia

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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

Spastic Ataxia
  • Spax

  • Ataxia, Spastic

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

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
Bos taurus GARS1 VGNC VGNC:29254
Macaca mulatta GARS1 VGNC VGNC:72881
Felis catus GARS1 VGNC VGNC:62465
Mus musculus GARS1 MGD MGI:2449057
Rattus norvegicus GARS1 RGD RGD:1307856
Canis familiaris GARS1 VGNC VGNC:41113
Others GARS1 NCBI