MCID: CHR517
MIFTS: 38

Charcot-Marie-Tooth Disease, Type 4a

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Type 4a

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Type 4a:

Name: Charcot-Marie-Tooth Disease, Type 4a 57 29 13 6 40 73
Cmt4a 57 12 53 59 75
Charcot-Marie-Tooth Disease Type 4a 12 53 59 15
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a 57
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a 75
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a 12
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive 53
Charcot-Marie-Tooth Disease Neuropathy Type 4a 75
Charcot-Marie-Tooth Neuropathy, Type 4a 57
Charcot-Marie-Tooth Neuropathy Type 4a 12
Charcot Marie Tooth Disease Type 4a 53
Charcot-Marie-Tooth Disease 4a 75

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 4a
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
usually begins in feet and legs (peroneal distribution)
upper limb involvement usually occurs later
onset before age 2 years
rapid progression to disability


HPO:

32
charcot-marie-tooth disease, type 4a:
Onset and clinical course rapidly progressive infantile onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 214400
Disease Ontology 12 DOID:0110185
ICD10 33 G60.0
Orphanet 59 ORPHA99948
MESH via Orphanet 45 C535419
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 74 C1859198
MedGen 42 C1859198
MeSH 44 D002607
UMLS 73 C1859198

Summaries for Charcot-Marie-Tooth Disease, Type 4a

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 4A: A recessive demyelinating 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). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence.

MalaCards based summary : Charcot-Marie-Tooth Disease, Type 4a, also known as cmt4a, is related to charcot-marie-tooth disease, axonal, type 2k and charcot-marie-tooth disease, type 4j. An important gene associated with Charcot-Marie-Tooth Disease, Type 4a is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1). The drugs 4-des-dimethylaminotetracycline and HIV Protease Inhibitors have been mentioned in the context of this disorder. Related phenotypes are peripheral axonal degeneration and split hand

OMIM : 57 By convention, the designation CMT4 is applied to autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease, which is a peripheral neuropathy characterized by distal motor and sensory impairment resulting in gait difficulties and associated with foot deformities. Motor nerve conduction velocities are decreased, and sural nerve biopsies show loss of myelinated fibers. The age at onset and severity is variable (summary by Patzko and Shy, 2012). (214400)

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 4 that has material basis in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21.

Related Diseases for Charcot-Marie-Tooth Disease, Type 4a

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Recessive Intermediate a Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Type 4j Charcot-Marie-Tooth Disease, Recessive Intermediate B
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease, Type 4a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2k 31.4 GDAP1 JPH1 TUBB3
2 charcot-marie-tooth disease, type 4j 31.0 MTMR2 SBF2
3 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 29.3 GDAP1 JPH1 MTMR2 PRX SBF2
4 tooth disease 29.1 GDAP1 MTMR2 PRX SBF2
5 charcot-marie-tooth disease, demyelinating, type 4f 28.9 GDAP1 MTMR2 PRX SBF2 TDP1
6 charcot-marie-tooth disease, type 4b2 28.9 GDAP1 MTMR2 PRX SBF2 TDP1
7 neuropathy 28.8 GDAP1 PRX SBF2 TDP1
8 charcot-marie-tooth disease 27.0 GDAP1 JPH1 MTMR2 PMP2 PRX SBF2
9 charcot-marie-tooth disease, type 4c 11.7
10 charcot-marie-tooth disease, type 4h 11.7
11 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive 11.4
12 charcot-marie-tooth disease type 2g 11.4
13 charcot-marie-tooth disease, axonal, type 2a1 10.8
14 charcot-marie-tooth disease, type 4d 10.8
15 neuropathy, hereditary motor and sensory, russe type 10.8
16 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 10.8
17 charcot-marie-tooth disease, type 4k 10.8
18 charcot-marie-tooth disease type 2k 10.3 GDAP1 JPH1
19 neuronitis 10.3
20 charcot-marie-tooth disease, demyelinating, type 1a 10.2 GDAP1 MTMR2
21 charcot-marie-tooth disease and deafness 10.1 GDAP1 MTMR2
22 hereditary neuropathies 9.9 MTMR2 PRX
23 early-onset glaucoma 9.9 MTMR2 SBF2
24 axonal neuropathy 9.8 GDAP1 TDP1
25 peripheral nervous system disease 9.8 GDAP1 MTMR2 TUBB3
26 hypertrophic neuropathy of dejerine-sottas 9.7 GDAP1 MTMR2 PRX
27 polyneuropathy 9.7 GDAP1 TUBB3
28 sensory peripheral neuropathy 9.7 GDAP1 MTMR2 PRX
29 centronuclear myopathy 9.7 MTMR2 SBF2
30 charcot-marie-tooth disease, type 4b3 9.6 GDAP1 MTMR2 SBF2
31 charcot-marie-tooth disease, axonal, type 2e 9.2 GDAP1 JPH1 MTMR2 SBF2
32 charcot-marie-tooth disease, type 4b1 9.0 GDAP1 MTMR2 PRX SBF2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Type 4a:



Diseases related to Charcot-Marie-Tooth Disease, Type 4a

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Type 4a

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
hypertrophic nerve changes
delayed motor development
more
Skeletal Hands:
claw hand deformities (in severe cases)

Skeletal Spine:
kyphoscoliosis may occur

Skeletal Feet:
foot deformities may occur


Clinical features from OMIM:

214400

Human phenotypes related to Charcot-Marie-Tooth Disease, Type 4a:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 peripheral axonal degeneration 32 HP:0000764
2 split hand 32 HP:0001171
3 ulnar claw 32 HP:0001178
4 hyporeflexia 32 HP:0001265
5 motor delay 32 HP:0001270
6 areflexia 32 HP:0001284
7 hammertoe 32 HP:0001765
8 distal muscle weakness 32 HP:0002460
9 kyphoscoliosis 32 frequent (33%) HP:0002751
10 distal sensory impairment 32 HP:0002936
11 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
12 hypertrophic nerve changes 32 HP:0003382
13 basal lamina 'onion bulb' formation 32 HP:0003400
14 cns hypomyelination 32 HP:0003429
15 decreased motor nerve conduction velocity 32 HP:0003431
16 distal amyotrophy 32 HP:0003693
17 inability to walk by childhood/adolescence 32 HP:0006915
18 peripheral hypomyelination 32 HP:0007182

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Type 4a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 GDAP1 JPH1 MTMR2 PMP2 PRX SBF2
2 nervous system MP:0003631 9.17 GDAP1 MTMR2 PMP2 PRX SBF2 TDP1

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Type 4a

Drugs for Charcot-Marie-Tooth Disease, Type 4a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 4-des-dimethylaminotetracycline
2 HIV Protease Inhibitors
3 Matrix Metalloproteinase Inhibitors
4
protease inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others Recruiting NCT01193075

Search NIH Clinical Center for Charcot-Marie-Tooth Disease, Type 4a

Genetic Tests for Charcot-Marie-Tooth Disease, Type 4a

Genetic tests related to Charcot-Marie-Tooth Disease, Type 4a:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 4a 29 GDAP1

Anatomical Context for Charcot-Marie-Tooth Disease, Type 4a

Publications for Charcot-Marie-Tooth Disease, Type 4a

Articles related to Charcot-Marie-Tooth Disease, Type 4a:

# Title Authors Year
1
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. ( 15772096 )
2005
2
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. ( 15805163 )
2005

Variations for Charcot-Marie-Tooth Disease, Type 4a

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Type 4a:

75
# Symbol AA change Variation ID SNP ID
1 GDAP1 p.Arg120Gln VAR_017184
2 GDAP1 p.Arg161His VAR_017185 rs104894076

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Type 4a:

6
(show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDAP1 NM_018972.2(GDAP1): c.92G> A (p.Trp31Ter) single nucleotide variant Pathogenic rs121908112 GRCh37 Chromosome 8, 75262788: 75262788
2 GDAP1 NM_018972.2(GDAP1): c.92G> A (p.Trp31Ter) single nucleotide variant Pathogenic rs121908112 GRCh38 Chromosome 8, 74350553: 74350553
3 GDAP1 NM_018972.2(GDAP1): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh37 Chromosome 8, 75275175: 75275175
4 GDAP1 NM_018972.2(GDAP1): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh38 Chromosome 8, 74362940: 74362940
5 GDAP1 NM_018972.2(GDAP1): c.482G> A (p.Arg161His) single nucleotide variant Pathogenic rs104894076 GRCh37 Chromosome 8, 75272543: 75272543
6 GDAP1 NM_018972.2(GDAP1): c.482G> A (p.Arg161His) single nucleotide variant Pathogenic rs104894076 GRCh38 Chromosome 8, 74360308: 74360308
7 GDAP1 NM_018972.2(GDAP1): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs104894077 GRCh37 Chromosome 8, 75274121: 75274121
8 GDAP1 NM_018972.2(GDAP1): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs104894077 GRCh38 Chromosome 8, 74361886: 74361886
9 GDAP1 NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh37 Chromosome 8, 75272419: 75272419
10 GDAP1 NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh38 Chromosome 8, 74360184: 74360184
11 GDAP1 NM_018972.2(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh37 Chromosome 8, 75276240: 75276240
12 GDAP1 NM_018972.2(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh38 Chromosome 8, 74364005: 74364005
13 GDAP1 NM_018972.2(GDAP1): c.347T> G (p.Met116Arg) single nucleotide variant Pathogenic rs281865060 GRCh37 Chromosome 8, 75272408: 75272408
14 GDAP1 NM_018972.2(GDAP1): c.347T> G (p.Met116Arg) single nucleotide variant Pathogenic rs281865060 GRCh38 Chromosome 8, 74360173: 74360173
15 GDAP1 NM_018972.2(GDAP1): c.248G> C (p.Gly83Ala) single nucleotide variant Uncertain significance rs371138642 GRCh37 Chromosome 8, 75263639: 75263639
16 GDAP1 NM_018972.2(GDAP1): c.248G> C (p.Gly83Ala) single nucleotide variant Uncertain significance rs371138642 GRCh38 Chromosome 8, 74351404: 74351404
17 GDAP1 NM_018972.2(GDAP1): c.169A> C (p.Ser57Arg) single nucleotide variant Uncertain significance rs863224774 GRCh37 Chromosome 8, 75263560: 75263560
18 GDAP1 NM_018972.2(GDAP1): c.169A> C (p.Ser57Arg) single nucleotide variant Uncertain significance rs863224774 GRCh38 Chromosome 8, 74351325: 74351325
19 GDAP1 NM_018972.2(GDAP1): c.556A> G (p.Ile186Val) single nucleotide variant Uncertain significance rs148508128 GRCh38 Chromosome 8, 74361955: 74361955
20 GDAP1 NM_018972.2(GDAP1): c.556A> G (p.Ile186Val) single nucleotide variant Uncertain significance rs148508128 GRCh37 Chromosome 8, 75274190: 75274190
21 GDAP1 NM_018972.2(GDAP1): c.62delA (p.Asp21Alafs) deletion no interpretation for the single variant rs863224875 GRCh38 Chromosome 8, 74350523: 74350523
22 GDAP1 NM_018972.2(GDAP1): c.62delA (p.Asp21Alafs) deletion no interpretation for the single variant rs863224875 GRCh37 Chromosome 8, 75262758: 75262758
23 GDAP1 NM_018972.2(GDAP1): c.347T> C (p.Met116Thr) single nucleotide variant no interpretation for the single variant rs281865060 GRCh37 Chromosome 8, 75272408: 75272408
24 GDAP1 NM_018972.2(GDAP1): c.347T> C (p.Met116Thr) single nucleotide variant no interpretation for the single variant rs281865060 GRCh38 Chromosome 8, 74360173: 74360173
25 GDAP1 NM_018972.2(GDAP1): c.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic rs745663149 GRCh38 Chromosome 8, 74360199: 74360199
26 GDAP1 NM_018972.2(GDAP1): c.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic rs745663149 GRCh37 Chromosome 8, 75272434: 75272434
27 GDAP1 NM_018972.2(GDAP1): c.579+1G> A single nucleotide variant Pathogenic rs864622501 GRCh37 Chromosome 8, 75274214: 75274214
28 GDAP1 NM_018972.2(GDAP1): c.579+1G> A single nucleotide variant Pathogenic rs864622501 GRCh38 Chromosome 8, 74361979: 74361979
29 GDAP1 NM_018972.2(GDAP1): c.614T> C (p.Leu205Ser) single nucleotide variant Uncertain significance rs878855054 GRCh37 Chromosome 8, 75275208: 75275208
30 GDAP1 NM_018972.2(GDAP1): c.614T> C (p.Leu205Ser) single nucleotide variant Uncertain significance rs878855054 GRCh38 Chromosome 8, 74362973: 74362973
31 GDAP1 NM_018972.2(GDAP1): c.694+5G> A single nucleotide variant Uncertain significance rs752550394 GRCh38 Chromosome 8, 74363058: 74363058
32 GDAP1 NM_018972.2(GDAP1): c.694+5G> A single nucleotide variant Uncertain significance rs752550394 GRCh37 Chromosome 8, 75275293: 75275293
33 GDAP1 NM_018972.2(GDAP1): c.1045T> C (p.Leu349=) single nucleotide variant Likely benign rs368943246 GRCh37 Chromosome 8, 75276570: 75276570
34 GDAP1 NM_018972.2(GDAP1): c.1045T> C (p.Leu349=) single nucleotide variant Likely benign rs368943246 GRCh38 Chromosome 8, 74364335: 74364335
35 GDAP1 NM_018972.2(GDAP1): c.310+6delG deletion Conflicting interpretations of pathogenicity rs780828430 GRCh37 Chromosome 8, 75263707: 75263707
36 GDAP1 NM_018972.2(GDAP1): c.310+6delG deletion Conflicting interpretations of pathogenicity rs780828430 GRCh38 Chromosome 8, 74351472: 74351472
37 GDAP1 NM_018972.2(GDAP1): c.399G> A (p.Met133Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139808557 GRCh38 Chromosome 8, 74360225: 74360225
38 GDAP1 NM_018972.2(GDAP1): c.399G> A (p.Met133Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139808557 GRCh37 Chromosome 8, 75272460: 75272460
39 GDAP1 NM_018972.2(GDAP1): c.507T> G (p.Ser169=) single nucleotide variant Benign rs11554166 GRCh38 Chromosome 8, 74361906: 74361906
40 GDAP1 NM_018972.2(GDAP1): c.507T> G (p.Ser169=) single nucleotide variant Benign rs11554166 GRCh37 Chromosome 8, 75274141: 75274141
41 GDAP1 NM_018972.2(GDAP1): c.693A> T (p.Pro231=) single nucleotide variant Conflicting interpretations of pathogenicity rs181157785 GRCh37 Chromosome 8, 75275287: 75275287
42 GDAP1 NM_018972.2(GDAP1): c.693A> T (p.Pro231=) single nucleotide variant Conflicting interpretations of pathogenicity rs181157785 GRCh38 Chromosome 8, 74363052: 74363052
43 GDAP1 NM_018972.2(GDAP1): c.458C> T (p.Pro153Leu) single nucleotide variant Uncertain significance rs538412810 GRCh37 Chromosome 8, 75272519: 75272519
44 GDAP1 NM_018972.2(GDAP1): c.458C> T (p.Pro153Leu) single nucleotide variant Uncertain significance rs538412810 GRCh38 Chromosome 8, 74360284: 74360284
45 GDAP1 NM_018972.2(GDAP1): c.579delA (p.Lys193Asnfs) deletion Pathogenic rs1060500979 GRCh37 Chromosome 8, 75274213: 75274213
46 GDAP1 NM_018972.2(GDAP1): c.579delA (p.Lys193Asnfs) deletion Pathogenic rs1060500979 GRCh38 Chromosome 8, 74361978: 74361978
47 GDAP1 NM_018972.2(GDAP1): c.786delG (p.Phe263Leufs) deletion Pathogenic/Likely pathogenic rs1060500978 GRCh37 Chromosome 8, 75276311: 75276311
48 GDAP1 NM_018972.2(GDAP1): c.786delG (p.Phe263Leufs) deletion Pathogenic/Likely pathogenic rs1060500978 GRCh38 Chromosome 8, 74364076: 74364076
49 GDAP1 NM_018972.2(GDAP1): c.216C> T (p.Asn72=) single nucleotide variant Likely benign rs760859999 GRCh38 Chromosome 8, 74351372: 74351372
50 GDAP1 NM_018972.2(GDAP1): c.216C> T (p.Asn72=) single nucleotide variant Likely benign rs760859999 GRCh37 Chromosome 8, 75263607: 75263607

Expression for Charcot-Marie-Tooth Disease, Type 4a

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 4a.

Pathways for Charcot-Marie-Tooth Disease, Type 4a

GO Terms for Charcot-Marie-Tooth Disease, Type 4a

Cellular components related to Charcot-Marie-Tooth Disease, Type 4a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.5 GDAP1 MTMR2 PMP2 PRX SBF2 TDP1
2 vacuolar membrane GO:0005774 8.62 MTMR2 SBF2

Biological processes related to Charcot-Marie-Tooth Disease, Type 4a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tetramerization GO:0051262 8.62 MTMR2 SBF2

Sources for Charcot-Marie-Tooth Disease, Type 4a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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