CMT2D
MCID: CHR649
MIFTS: 42

Charcot-Marie-Tooth Disease, Axonal, Type 2d (CMT2D)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2d

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2d:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2d 56 52
Charcot-Marie-Tooth Disease Type 2d 12 74 52 29 6 15
Charcot-Marie-Tooth Disease, Type 2d 56 13 39 71
Cmt2d 56 12 58 73
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d 12 58
Charcot-Marie-Tooth Disease, Neuronal, Type 2d 56 52
Charcot-Marie-Tooth Disease Neuronal Type 2d 12 73
Charcot-Marie-Tooth Neuropathy Type 2d 12 73
Charcot-Marie-Tooth Disease Axonal Type 2d 73
Charcot-Marie-Tooth Neuropathy, Type 2d 56
Charcot Marie Tooth Disease Type 2d 52
Charcot-Marie-Tooth Disease 2d 73
Cmt 2d 52

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant charcot-marie-tooth disease type 2d
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
slow disease progression
mean age of onset 18 years
allelic disorder to distal spinal muscular atrophy type v (dsmav, ), but distinguished by more severe distal sensory involvement


HPO:

31
charcot-marie-tooth disease, axonal, type 2d:
Inheritance autosomal dominant inheritance
Onset and clinical course onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110164
OMIM 56 601472
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1832274
Orphanet 58 ORPHA99938
MedGen 41 C1832274
UMLS 71 C1832274

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

UniProtKB/Swiss-Prot : 73 Charcot-Marie-Tooth disease 2D: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2d, also known as charcot-marie-tooth disease type 2d, is related to gars1-associated axonal neuropathy and neuronopathy, distal hereditary motor, type va. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2d is GARS1 (Glycyl-TRNA Synthetase 1), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include skin, and related phenotypes are scoliosis and pes cavus

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in mutation in the gene encoding glycyl tRNA synthetase (GARS).

Wikipedia : 74 Charcot-Marie-Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies of the... more...

More information from OMIM: 601472 PS118220

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2d

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2d via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 gars1-associated axonal neuropathy 31.0 GARS1 BSCL2
2 neuronopathy, distal hereditary motor, type va 30.9 GARS1 BSCL2
3 motor neuron disease 30.1 NEFL MARS1 GARS1 BSCL2
4 spinal muscular atrophy 30.0 NEFL HSPB8 GARS1 BSCL2
5 axonal neuropathy 29.5 NEFL MFN2 GDAP1 GARS1
6 neuropathy 28.7 NEFL MPZ MFN2 HSPB8 GJB1 GDAP1
7 charcot-marie-tooth disease, demyelinating, type 1a 28.7 NEFL MPZ MFN2 KIF1B GJB1 GDAP1
8 peripheral nervous system disease 28.4 NEFL MPZ MFN2 KIF1B HSPB8 GJB1
9 neuromuscular disease 27.6 YARS1 NEFL MPZ MFN2 KIF1B HSPB8
10 tooth disease 26.7 YARS1 NEFL MPZ MFN2 MARS1 KIF1B
11 charcot-marie-tooth disease 25.2 YARS2 YARS1 SPON1 NEFL MPZ MFN2
12 charcot-marie-tooth disease, axonal, type 2w 10.3 MARS1 AARS1
13 argyll robertson pupil 10.3 MPZ GDAP1
14 bscl2-related neurologic disorders/seipinopathy 10.3 GARS1 BSCL2
15 deafness, autosomal recessive 89 10.3 KARS1 EPRS1
16 abnormal pupillary function 10.3 MPZ GDAP1
17 pupil disease 10.3 MPZ GDAP1
18 pontocerebellar hypoplasia, type 6 10.3 KARS1 AARS1
19 charcot-marie-tooth disease, axonal, type 2u 10.3 MARS1 GARS1 EPRS1
20 muscular atrophy 10.3
21 charcot-marie-tooth hereditary neuropathy 10.3
22 charcot-marie-tooth disease, dominant intermediate d 10.3 YARS1 MPZ KIF1B
23 charcot-marie-tooth disease, dominant intermediate e 10.2 MPZ GDAP1
24 charcot-marie-tooth disease type 2a 10.2 MFN2 KIF1B
25 rigid spine muscular dystrophy 1 10.2 YARS2 YARS1 AARS1
26 charcot-marie-tooth neuropathy type 2a 10.1 MFN2 KIF1B
27 charcot-marie-tooth disease x-linked recessive 4 10.1 MPZ GJB1
28 autoimmune peripheral neuropathy 10.1 MPZ GJB1
29 charcot-marie-tooth disease, type 4h 10.1 MPZ GDAP1
30 robinow syndrome, autosomal recessive 1 10.1 YARS1 MARS1 KARS1 EPRS1
31 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.0 MPZ GJB1
32 charcot-marie-tooth disease, type 4b1 10.0 MPZ GDAP1
33 usher syndrome, type iiib 10.0 YARS1 MARS1 GARS1 EPRS1 AARS1
34 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.0 YARS2 STUM GARS1 EPRS1
35 charcot-marie-tooth disease, recessive intermediate a 10.0 MFN2 GDAP1
36 charcot-marie-tooth disease, demyelinating, type 4f 10.0 MPZ GJB1 GDAP1
37 charcot-marie-tooth disease, type 4b2 9.9 MPZ GJB1 GDAP1
38 charcot-marie-tooth disease, type 4d 9.9 MPZ GJB1 GDAP1
39 charcot-marie-tooth disease, recessive intermediate b 9.9 YARS2 YARS1 KARS1 GARS1 AARS1
40 charcot-marie-tooth disease, axonal, type 2b1 9.9 MFN2 GDAP1
41 charcot-marie-tooth disease, x-linked recessive, 2 9.9 MPZ GJB1 BSCL2
42 charcot-marie-tooth disease, axonal, type 2q 9.9 MPZ GJB1
43 charcot-marie-tooth disease, demyelinating, type 1f 9.9 NEFL MPZ GJB1
44 charcot-marie-tooth disease, dominant intermediate a 9.8 YARS1 MPZ GJB1 GDAP1
45 charcot-marie-tooth disease, dominant intermediate b 9.8 YARS1 MPZ GJB1 GDAP1
46 spastic paraplegia 17, autosomal dominant 9.8 GARS1 BSCL2
47 charcot-marie-tooth disease, demyelinating, type 1d 9.8 MPZ KIF1B GJB1 GDAP1
48 hereditary neuropathies 9.7 MPZ MFN2 GJB1
49 neuropathy, hereditary sensory and autonomic, type iia 9.7 MFN2 GDAP1 BSCL2
50 perrault syndrome 9.6 YARS2 STUM KARS1 GARS1 EPRS1 AARS1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2d:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2d

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2d

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2d:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 pes cavus 31 HP:0001761
3 hyporeflexia 31 HP:0001265
4 distal amyotrophy 31 HP:0003693
5 upper limb muscle weakness 31 HP:0003484
6 thenar muscle atrophy 31 HP:0003393
7 first dorsal interossei muscle weakness 31 HP:0003392
8 first dorsal interossei muscle atrophy 31 HP:0003426
9 thenar muscle weakness 31 HP:0003427
10 hammertoe 31 HP:0001765
11 postural instability 31 HP:0002172
12 distal sensory impairment 31 HP:0002936
13 cold-induced hand cramps 31 HP:0003435
14 upper limb amyotrophy 31 HP:0009129

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
pes cavus
hammertoes

Skeletal Spine:
scoliosis may be present

Neurologic Peripheral Nervous System:
hyporeflexia
thenar muscle atrophy
first dorsal interossei muscle weakness
first dorsal interossei muscle atrophy
thenar muscle weakness
more

Clinical features from OMIM:

601472

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2d:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 AARS1 BSCL2 EPRS1 GARS1 GJB1 KARS1
2 mortality/aging MP:0010768 9.4 AARS1 BSCL2 EPRS1 GARS1 GJB1 HSPB8

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2d

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2d

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2d

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2d:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2d 29 GARS1

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2d

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2d:

40
Skin

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

Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2d:

(show all 32)
# Title Authors PMID Year
1
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. 61 56 6
12690580 2003
2
Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. 61 56 6
9879677 1998
3
The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy. 56 6
19329989 2009
4
Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. 56 6
10732809 1997
5
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). 56 6
8872480 1996
6
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. 61 6
25168514 2014
7
GARS1-Associated Axonal Neuropathy 6
20301420 2006
8
An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. 56
16982418 2006
9
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation. 6
16534118 2006
10
Molecular genetics of distal hereditary motor neuropathies. 56
15358725 2004
11
The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map. 56
10400924 1999
12
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
13
Charcot-Marie-Tooth Neuropathy Type 2 6
20301462 1998
14
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. 56
8541851 1995
15
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants. 61
31985473 2020
16
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. 61
31557132 2019
17
A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease. 61
31173493 2019
18
Plexin-Semaphorin Signaling Modifies Neuromuscular Defects in a Drosophila Model of Peripheral Neuropathy. 61
29520219 2018
19
Neuropilin 1 sequestration by neuropathogenic mutant glycyl-tRNA synthetase is permissive to vascular homeostasis. 61
28835631 2017
20
[Analysis of a Chinese Charcot-Marie-Tooth disease type 2D pedigree]. 61
28763882 2017
21
Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations. 61
28351971 2017
22
Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. 61
28594869 2017
23
A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-Tooth type 2D in a Chinese family. 61
26000875 2015
24
Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice. 61
24368416 2014
25
A novel adenoviral vector-mediated mouse model of Charcot-Marie-Tooth type 2D (CMT2D). 61
23990368 2014
26
[A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement]. 61
25420567 2014
27
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. 61
22144914 2011
28
Arabidopsis thaliana, a plant model organism for the neuronal microtubule cytoskeleton? 61
20813785 2011
29
Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation. 61
20169446 2010
30
GARS axonopathy: not every neuron's cup of tRNA. 61
20152552 2010
31
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. 61
17035524 2006
32
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. 61
16014653 2005

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

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2d:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GARS1 NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)SNV Pathogenic 9209 rs137852648 7:30651723-30651723 7:30612107-30612107
2 GARS1 NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)SNV Pathogenic/Likely pathogenic 9204 rs137852643 7:30649345-30649345 7:30609729-30609729
3 GARS1 NM_002047.4(GARS1):c.998A>T (p.Glu333Val)SNV Likely pathogenic 216930 rs863224873 7:30651828-30651828 7:30612212-30612212
4 GARS1 NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu)SNV Conflicting interpretations of pathogenicity 209157 rs201358272 7:30671863-30671863 7:30632247-30632247
5 GARS1 NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)SNV Conflicting interpretations of pathogenicity 9206 rs137852645 7:30639612-30639612 7:30599996-30599996
6 GARS1 NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)SNV Conflicting interpretations of pathogenicity 9208 rs137852647 7:30665896-30665896 7:30626280-30626280
7 GARS1 NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu)SNV Uncertain significance 246654 rs879254346 7:30672001-30672001 7:30632385-30632385
8 GARS1 NM_002047.4(GARS1):c.1186G>A (p.Val396Ile)SNV Uncertain significance 410310 rs1060502836 7:30655666-30655666 7:30616050-30616050
9 GARS1 NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)SNV Uncertain significance 410311 rs201728920 7:30638451-30638451 7:30598835-30598835
10 GARS1 NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)SNV Benign 258532 rs1049402 7:30634661-30634661 7:30595045-30595045
11 GARS1 NM_002047.4(GARS1):c.2095-6C>TSNV Benign 258536 rs2240401 7:30673345-30673345 7:30633729-30633729
12 GARS1 NM_002047.4(GARS1):c.222+5C>TSNV Benign 137439 rs2072236 7:30634764-30634764 7:30595148-30595148
13 GARS1 NM_002047.4(GARS1):c.93G>C (p.Leu31=)SNV Benign 137444 rs2529438 7:30634630-30634630 7:30595014-30595014
14 GARS1 NM_001316772.1(GARS1):c.-207C>GSNV not provided 441078 rs903029869 7:30634493-30634493 7:30594877-30594877

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2d:

73
# Symbol AA change Variation ID SNP ID
1 GARS1 p.Glu125Gly VAR_018718 rs137852645
2 GARS1 p.Gly294Arg VAR_018720 rs137852643
3 GARS1 p.Ala111Val VAR_073187 rs370531212
4 GARS1 p.Asp200Asn VAR_073188
5 GARS1 p.Ser265Phe VAR_073189 rs155433797
6 GARS1 p.Pro298Leu VAR_073190 rs137852648
7 GARS1 p.Asp554Asn VAR_073193 rs137852647
8 GARS1 p.Gly652Ala VAR_073195
9 GARS1 p.Asp200Tyr VAR_074016
10 GARS1 p.Met292Arg VAR_074017

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

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2d.

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

Pathways related to Charcot-Marie-Tooth Disease, Axonal, Type 2d according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.41 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2d

Cellular components related to Charcot-Marie-Tooth Disease, Axonal, Type 2d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.93 YARS2 YARS1 NRP1 NEFL MFN2 MARS1
2 mitochondrion GO:0005739 9.8 YARS2 MFN2 KIF1B KARS1 GDAP1 GARS1
3 axon GO:0030424 9.62 NRP1 NEFL KIF1B GARS1
4 neurofilament GO:0005883 8.96 NRP1 NEFL
5 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 8.8 MARS1 KARS1 EPRS1

Biological processes related to Charcot-Marie-Tooth Disease, Axonal, Type 2d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.58 NRP1 NEFL AARS1
2 translation GO:0006412 9.5 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1
3 mitochondrial fusion GO:0008053 9.37 MFN2 GDAP1
4 tRNA aminoacylation GO:0043039 9.33 YARS2 EPRS1 AARS1
5 diadenosine tetraphosphate biosynthetic process GO:0015966 9.32 KARS1 GARS1
6 tyrosyl-tRNA aminoacylation GO:0006437 9.26 YARS2 YARS1
7 tRNA aminoacylation for protein translation GO:0006418 9.17 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1

Molecular functions related to Charcot-Marie-Tooth Disease, Axonal, Type 2d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.92 YARS2 YARS1 MARS1 KIF1B KARS1 GARS1
2 nucleotide binding GO:0000166 9.77 YARS2 YARS1 MARS1 KARS1 AARS1
3 tRNA binding GO:0000049 9.55 YARS2 YARS1 MARS1 KARS1 AARS1
4 ligase activity GO:0016874 9.5 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1
5 amino acid binding GO:0016597 9.4 KARS1 AARS1
6 tyrosine-tRNA ligase activity GO:0004831 9.26 YARS2 YARS1
7 aminoacyl-tRNA ligase activity GO:0004812 9.17 YARS2 YARS1 MARS1 KARS1 GARS1 EPRS1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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