CMTRIA
MCID: CHR658
MIFTS: 38

Charcot-Marie-Tooth Disease, Recessive Intermediate a (CMTRIA)

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Recessive Intermediate a

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Recessive Intermediate a:

Name: Charcot-Marie-Tooth Disease, Recessive Intermediate a 57 29 6 39 70
Cmtria 57 12 20 72
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a 12 20 58
Charcot-Marie-Tooth Disease, Recessive Intermediate, a 57 20 13
Ri-Cmta 57 12 72
Charcot-Marie-Tooth Neuropathy Recessive Intermediate a 12 72
Charcot-Marie-Tooth Disease Recessive Intermediate a 12 15
Ri-Cmt Type a 20 58
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, a 72
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate a 57

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive intermediate charcot-marie-tooth disease type a
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
severe course
onset in early childhood (2-4 years)
clinical and pathologic features of both demyelinating and axonal cmt
allelic to several forms of autosomal recessive cmt (see )


HPO:

31
charcot-marie-tooth disease, recessive intermediate a:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110201
OMIM® 57 608340
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C1842197
Orphanet 58 ORPHA217055
MedGen 41 C1842197
UMLS 70 C1842197

Summaries for Charcot-Marie-Tooth Disease, Recessive Intermediate a

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease, recessive, intermediate type, A: A 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. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

MalaCards based summary : Charcot-Marie-Tooth Disease, Recessive Intermediate a, also known as cmtria, is related to charcot-marie-tooth disease, recessive intermediate c and charcot-marie-tooth disease intermediate type. An important gene associated with Charcot-Marie-Tooth Disease, Recessive Intermediate a is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1). Related phenotypes are scoliosis and talipes equinovarus

Disease Ontology : 12 A Charcot-Marie-Tooth disease intermediate type that has material basis in homozygous mutation in the GDAP1 gene on chromosome 8q21.

OMIM® : 57 Autosomal recessive intermediate Charcot-Marie-Tooth disease A (CMTRIA) is a peripheral neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy. The upper limbs may also be affected. Electrophysiologic studies and sural nerve biopsy show mixed features of demyelinating and axonal neuropathy. Onset is usually in early childhood (summary by Senderek et al., 2003). (608340) (Updated 05-Apr-2021)

Related Diseases for Charcot-Marie-Tooth Disease, Recessive Intermediate a

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 D
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, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l 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
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, Recessive Intermediate a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, recessive intermediate c 10.9
2 charcot-marie-tooth disease intermediate type 10.1 MFN2 GDAP1
3 charcot-marie-tooth disease type x 10.1 MFN2 GDAP1
4 charcot-marie-tooth disease, axonal, type 2b1 10.1 MFN2 GDAP1
5 charcot-marie-tooth disease, x-linked dominant, 1 10.1 MFN2 GDAP1
6 charcot-marie-tooth disease, demyelinating, type 1b 10.1 MFN2 GDAP1
7 neuropathy, hereditary, with liability to pressure palsies 10.1 MFN2 GDAP1
8 charcot-marie-tooth disease, demyelinating, type 1a 10.1 MFN2 GDAP1
9 charcot-marie-tooth disease, type 4b2 10.0 MFN2 GDAP1
10 charcot-marie-tooth disease, axonal, type 2i 10.0 HSPB8 GDAP1
11 spinal muscular atrophy, distal, autosomal recessive, 2 10.0 MFN2 HSPB8
12 sensory peripheral neuropathy 9.9 MFN2 GDAP1
13 optic atrophy 3, autosomal dominant 9.8 MICU3 MFN2
14 charcot-marie-tooth disease, axonal, type 2a1 9.8 MFN2 HSPB8 GDAP1
15 charcot-marie-tooth disease, axonal, type 2l 9.8 MFN2 HSPB8 GDAP1
16 hereditary motor and sensory neuropathy, type iic 9.8 MFN2 HSPB8 GDAP1
17 charcot-marie-tooth disease, axonal, type 2f 9.8 MFN2 HSPB8 GDAP1
18 charcot-marie-tooth disease, type 4a 9.8 MFN2 HSPB8 GDAP1
19 charcot-marie-tooth disease, axonal, type 2d 9.8 MFN2 HSPB8 GDAP1
20 charcot-marie-tooth disease, axonal, type 2b 9.8 MFN2 HSPB8 GDAP1
21 charcot-marie-tooth disease, axonal, type 2b2 9.8 MFN2 HSPB8 GDAP1
22 charcot-marie-tooth disease, demyelinating, type 1c 9.8 MFN2 HSPB8 GDAP1
23 neuronopathy, distal hereditary motor, type va 9.8 MFN2 HSPB8 GDAP1
24 hypertrophic neuropathy of dejerine-sottas 9.8 MFN2 HSPB8 GDAP1
25 charcot-marie-tooth disease and deafness 9.8 MFN2 HSPB8 GDAP1
26 motor peripheral neuropathy 9.8 MFN2 HSPB8
27 axonal neuropathy 9.8 MFN2 GDAP1
28 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.7 MFN2 HSPB8 GDAP1
29 neuromuscular disease 9.7 MFN2 HSPB8 GDAP1
30 peripheral nervous system disease 9.7 MFN2 HSPB8 GDAP1
31 charcot-marie-tooth disease, axonal, type 2e 9.7 MFN2 HSPB8 GDAP1
32 charcot-marie-tooth disease 9.6 MFN2 JPH1 HSPB8 GDAP1
33 tooth disease 9.6 MFN2 JPH1 HSPB8 GDAP1
34 charcot-marie-tooth disease, axonal, type 2k 9.2 SLC25A12 RAB6B JPH1 HSPB8 GDAP1 ATCAY

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



Diseases related to Charcot-Marie-Tooth Disease, Recessive Intermediate a

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Human phenotypes related to Charcot-Marie-Tooth Disease, Recessive Intermediate a:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 talipes equinovarus 31 HP:0001762
3 areflexia 31 HP:0001284
4 pes cavus 31 HP:0001761
5 peripheral neuropathy 31 HP:0009830
6 hyporeflexia 31 HP:0001265
7 steppage gait 31 HP:0003376
8 limb muscle weakness 31 HP:0003690
9 distal sensory impairment 31 HP:0002936
10 distal amyotrophy 31 HP:0003693
11 foot dorsiflexor weakness 31 HP:0009027
12 emg: neuropathic changes 31 HP:0003445
13 peripheral demyelination 31 HP:0011096
14 decreased number of large peripheral myelinated nerve fibers 31 HP:0003387
15 onion bulb formation 31 HP:0003383
16 ulnar claw 31 HP:0001178

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
'steppage' gait
foot drop
more
Neurologic:
normal early motor milestones

Skeletal Feet:
talipes equinovarus
pes cavus

Skeletal Hands:
claw hand deformity

Clinical features from OMIM®:

608340 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Recessive Intermediate a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.28 ATCAY GDAP1 HSPB8 JPH1 MFN2 MICU3

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Genetic Tests for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Genetic tests related to Charcot-Marie-Tooth Disease, Recessive Intermediate a:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Recessive Intermediate a 29 GDAP1

Anatomical Context for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Publications for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Articles related to Charcot-Marie-Tooth Disease, Recessive Intermediate a:

# Title Authors PMID Year
1
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease. 6 57
21365284 2011
2
Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene. 6 57
17039978 2006
3
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. 6 57
12566285 2003
4
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. 57 6
12499475 2002
5
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype. 6
20232219 2010
6
GDAP1 mutations in CMT4: axonal and demyelinating phenotypes?: The exception "proves the rule". 57
12499472 2002

Variations for Charcot-Marie-Tooth Disease, Recessive Intermediate a

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Recessive Intermediate a:

6 (show top 50) (show all 95)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDAP1 GDAP1, IVS4DS, G-A, +1 SNV Pathogenic 4197 GRCh37:
GRCh38:
2 GDAP1 NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) SNV Pathogenic 40049 rs397515432 GRCh37: 8:75276505-75276505
GRCh38: 8:74364270-74364270
3 GDAP1 NM_001362931.2(GDAP1):c.694+932_694+1314del Deletion Pathogenic 549689 GRCh37: 8:75276217-75276599
GRCh38: 8:74363982-74364364
4 GDAP1 NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) Duplication Pathogenic 637122 rs1586803063 GRCh37: 8:75272409-75272410
GRCh38: 8:74360174-74360175
5 GDAP1 NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) SNV Pathogenic 4195 rs28937906 GRCh37: 8:75276369-75276369
GRCh38: 8:74364134-74364134
6 GDAP1 NM_018972.4(GDAP1):c.347T>C (p.Met116Thr) SNV Pathogenic 242508 rs281865060 GRCh37: 8:75272408-75272408
GRCh38: 8:74360173-74360173
7 GDAP1 NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) SNV Pathogenic 217229 rs745663149 GRCh37: 8:75272434-75272434
GRCh38: 8:74360199-74360199
8 GDAP1 NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) SNV Pathogenic 4193 rs104894077 GRCh37: 8:75274121-75274121
GRCh38: 8:74361886-74361886
9 GDAP1 NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) SNV Pathogenic 4200 rs104894080 GRCh37: 8:75276240-75276240
GRCh38: 8:74364005-74364005
10 GDAP1 NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) SNV Pathogenic 245608 rs770501034 GRCh37: 8:75276294-75276294
GRCh38: 8:74364059-74364059
11 GDAP1 NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) SNV Pathogenic 4198 rs104894078 GRCh37: 8:75272419-75272419
GRCh38: 8:74360184-74360184
12 GDAP1 NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) SNV Uncertain significance 216707 rs148508128 GRCh37: 8:75274190-75274190
GRCh38: 8:74361955-74361955
13 GDAP1 NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser) SNV Uncertain significance 909881 GRCh37: 8:75276244-75276244
GRCh38: 8:74364009-74364009
14 GDAP1 NM_018972.4(GDAP1):c.1039A>G (p.Met347Val) SNV Uncertain significance 845803 GRCh37: 8:75276564-75276564
GRCh38: 8:74364329-74364329
15 GDAP1 NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) SNV Uncertain significance 467754 rs140811185 GRCh37: 8:75276531-75276531
GRCh38: 8:74364296-74364296
16 GDAP1 NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg) SNV Uncertain significance 848093 GRCh37: 8:75276397-75276397
GRCh38: 8:74364162-74364162
17 GDAP1 NM_018972.4(GDAP1):c.693A>T (p.Pro231=) SNV Uncertain significance 379724 rs181157785 GRCh37: 8:75275287-75275287
GRCh38: 8:74363052-74363052
18 GDAP1 NM_001362931.2(GDAP1):c.694+3856A>G SNV Uncertain significance 912243 GRCh37: 8:75279144-75279144
GRCh38: 8:74366909-74366909
19 GDAP1 NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) SNV Uncertain significance 467776 rs199529910 GRCh37: 8:75276490-75276490
GRCh38: 8:74364255-74364255
20 GDAP1 NM_018972.4(GDAP1):c.*195T>C SNV Uncertain significance 911998 GRCh37: 8:75276797-75276797
GRCh38: 8:74364562-74364562
21 GDAP1 NM_018972.4(GDAP1):c.*331C>T SNV Uncertain significance 911999 GRCh37: 8:75276933-75276933
GRCh38: 8:74364698-74364698
22 GDAP1 NM_018972.4(GDAP1):c.*860T>C SNV Uncertain significance 912056 GRCh37: 8:75277462-75277462
GRCh38: 8:74365227-74365227
23 GDAP1 NM_018972.4(GDAP1):c.*1183G>A SNV Uncertain significance 912108 GRCh37: 8:75277785-75277785
GRCh38: 8:74365550-74365550
24 GDAP1 NM_018972.4(GDAP1):c.*1289T>C SNV Uncertain significance 912109 GRCh37: 8:75277891-75277891
GRCh38: 8:74365656-74365656
25 GDAP1 NM_018972.4(GDAP1):c.*926C>A SNV Uncertain significance 909153 GRCh37: 8:75277528-75277528
GRCh38: 8:74365293-74365293
26 GDAP1 NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) SNV Uncertain significance 467772 rs778557691 GRCh37: 8:75276301-75276301
GRCh38: 8:74364066-74364066
27 GDAP1 NM_018972.4(GDAP1):c.*697A>G SNV Uncertain significance 909932 GRCh37: 8:75277299-75277299
GRCh38: 8:74365064-74365064
28 GDAP1 NM_018972.4(GDAP1):c.*444A>G SNV Uncertain significance 363722 rs113377784 GRCh37: 8:75277046-75277046
GRCh38: 8:74364811-74364811
29 GDAP1 NM_018972.4(GDAP1):c.*2298A>C SNV Uncertain significance 911012 GRCh37: 8:75278900-75278900
GRCh38: 8:74366665-74366665
30 GDAP1 NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu) SNV Uncertain significance 911944 GRCh37: 8:75263687-75263687
GRCh38: 8:74351452-74351452
31 GDAP1 NM_018972.4(GDAP1):c.*1377C>T SNV Uncertain significance 363740 rs886063112 GRCh37: 8:75277979-75277979
GRCh38: 8:74365744-74365744
32 GDAP1 NM_001362931.2(GDAP1):c.694+4037T>C SNV Uncertain significance 363763 rs886063119 GRCh37: 8:75279325-75279325
GRCh38: 8:74367090-74367090
33 GDAP1 NM_018972.4(GDAP1):c.*751A>G SNV Uncertain significance 363726 rs544136357 GRCh37: 8:75277353-75277353
GRCh38: 8:74365118-74365118
34 GDAP1 NM_018972.4(GDAP1):c.*2170A>G SNV Uncertain significance 363756 rs886063117 GRCh37: 8:75278772-75278772
GRCh38: 8:74366537-74366537
35 GDAP1 NM_018972.4(GDAP1):c.*1301A>G SNV Uncertain significance 908103 GRCh37: 8:75277903-75277903
GRCh38: 8:74365668-74365668
36 GDAP1 NM_018972.4(GDAP1):c.*1372A>G SNV Uncertain significance 908104 GRCh37: 8:75277974-75277974
GRCh38: 8:74365739-74365739
37 GDAP1 NM_018972.4(GDAP1):c.*1415C>T SNV Uncertain significance 908105 GRCh37: 8:75278017-75278017
GRCh38: 8:74365782-74365782
38 GDAP1 NM_018972.4(GDAP1):c.*1905A>G SNV Uncertain significance 908166 GRCh37: 8:75278507-75278507
GRCh38: 8:74366272-74366272
39 GDAP1 NM_018972.4(GDAP1):c.*1968C>T SNV Uncertain significance 908167 GRCh37: 8:75278570-75278570
GRCh38: 8:74366335-74366335
40 GDAP1 NM_001362931.2(GDAP1):c.694+3989C>T SNV Uncertain significance 908238 GRCh37: 8:75279277-75279277
GRCh38: 8:74367042-74367042
41 GDAP1 NM_001362931.2(GDAP1):c.694+4016T>C SNV Uncertain significance 908239 GRCh37: 8:75279304-75279304
GRCh38: 8:74367069-74367069
42 GDAP1 NM_018972.4(GDAP1):c.471T>G (p.Thr157=) SNV Uncertain significance 909017 GRCh37: 8:75272532-75272532
GRCh38: 8:74360297-74360297
43 GDAP1 NM_018972.4(GDAP1):c.*451C>T SNV Uncertain significance 909077 GRCh37: 8:75277053-75277053
GRCh38: 8:74364818-74364818
44 GDAP1 NM_018972.4(GDAP1):c.*644G>T SNV Uncertain significance 909078 GRCh37: 8:75277246-75277246
GRCh38: 8:74365011-74365011
45 GDAP1 NM_018972.4(GDAP1):c.*1043G>C SNV Uncertain significance 909994 GRCh37: 8:75277645-75277645
GRCh38: 8:74365410-74365410
46 GDAP1 NM_018972.4(GDAP1):c.*2125A>C SNV Uncertain significance 910123 GRCh37: 8:75278727-75278727
GRCh38: 8:74366492-74366492
47 GDAP1 NM_018972.4(GDAP1):c.*18C>T SNV Uncertain significance 910779 GRCh37: 8:75276620-75276620
GRCh38: 8:74364385-74364385
48 GDAP1 NM_018972.4(GDAP1):c.*1080G>A SNV Uncertain significance 909995 GRCh37: 8:75277682-75277682
GRCh38: 8:74365447-74365447
49 GDAP1 NM_018972.4(GDAP1):c.*1141C>T SNV Uncertain significance 910882 GRCh37: 8:75277743-75277743
GRCh38: 8:74365508-74365508
50 GDAP1 NM_018972.4(GDAP1):c.*1165C>G SNV Uncertain significance 910883 GRCh37: 8:75277767-75277767
GRCh38: 8:74365532-74365532

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

72
# Symbol AA change Variation ID SNP ID
1 GDAP1 p.Arg282Cys VAR_017186 rs28937906

Expression for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Recessive Intermediate a.

Pathways for Charcot-Marie-Tooth Disease, Recessive Intermediate a

GO Terms for Charcot-Marie-Tooth Disease, Recessive Intermediate a

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.7 SLC25A24 SLC25A12 MICU3 MFN2 JPH1 GDAP1
2 mitochondrial inner membrane GO:0005743 9.13 SLC25A24 SLC25A12 MICU3
3 mitochondrion GO:0005739 9.1 SLC25A24 SLC25A12 MICU3 MFN2 GDAP1 ATCAY

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

# Name GO ID Score Top Affiliating Genes
1 protein targeting to mitochondrion GO:0006626 9.16 MFN2 GDAP1
2 mitochondrial calcium ion transmembrane transport GO:0006851 8.96 SLC25A12 MICU3
3 mitochondrial fusion GO:0008053 8.62 MFN2 GDAP1

Molecular functions related to Charcot-Marie-Tooth Disease, Recessive Intermediate a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP transmembrane transporter activity GO:0005347 8.62 SLC25A24 SLC25A12

Sources for Charcot-Marie-Tooth Disease, Recessive Intermediate a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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