CMT4H
MCID: CHR421
MIFTS: 44

Charcot-Marie-Tooth Disease, Type 4h (CMT4H)

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

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

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

Name: Charcot-Marie-Tooth Disease, Type 4h 56 52 29 13 6 39 71
Cmt4h 56 12 52 58 73
Charcot-Marie-Tooth Disease Type 4h 12 52 58 15
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h 56 52
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h 56 52
Charcot-Marie-Tooth Neuropathy, Type 4h 56 52
Charcot-Marie-Tooth Neuropathy Type 4h 12 73
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h 12
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h 73
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h 12
Charcot-Marie-Tooth Disease 4h 73

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 4h
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
onset before age 2 years
severe disorder
genetic heterogeneity (see cmt4a )


HPO:

31
charcot-marie-tooth disease, type 4h:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110192
OMIM 56 609311
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1836336
Orphanet 58 ORPHA99954
MedGen 41 C1836336
UMLS 71 C1836336

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

UniProtKB/Swiss-Prot : 73 Charcot-Marie-Tooth disease 4H: 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.

MalaCards based summary : Charcot-Marie-Tooth Disease, Type 4h, also known as cmt4h, is related to hereditary neuropathies and neuropathy, hereditary motor and sensory, russe type, and has symptoms including waddling gait An important gene associated with Charcot-Marie-Tooth Disease, Type 4h is FGD4 (FYVE, RhoGEF And PH Domain Containing 4), and among its related pathways/superpathways are Signaling by Rho GTPases and Regulation of actin cytoskeleton. Affiliated tissues include eye, and related phenotypes are scoliosis and areflexia

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 4 that has material basis in mutations in the gene encoding frabin (FGD4).

More information from OMIM: 609311 PS118220

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

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, Type 4h via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 hereditary neuropathies 30.5 PRX NDRG1 MTMR2 MPZ
2 neuropathy, hereditary motor and sensory, russe type 30.2 SH3TC2 NDRG1 GDAP1
3 neuropathy 29.7 SH3TC2 SBF2 PRX MTMR2 MPZ GDAP1
4 peripheral nervous system disease 29.3 SH3TC2 SBF2 PRX MTMR2 MPZ GDAP1
5 tooth disease 28.7 SH3TC2 SBF2 SBF1 PRX NDRG1 MTMR2
6 neuropathy, congenital hypomyelinating, 1, autosomal recessive 28.2 SH3TC2 SBF2 SBF1 PRX PIKFYVE NDRG1
7 charcot-marie-tooth disease 27.3 SH3TC2 SBF2 SBF1 PRX PIKFYVE NDRG1
8 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 10.8
9 scoliosis 10.7
10 kearns-sayre syndrome 10.4
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
12 impotence 10.4
13 muscular atrophy 10.4
14 argyll robertson pupil 10.2 MPZ GDAP1
15 abnormal pupillary function 10.2 MPZ GDAP1
16 pupil disease 10.1 MPZ GDAP1
17 adie pupil 10.1 MPZ ARHGEF10
18 charcot-marie-tooth disease, axonal, type 2l 10.1 MPZ GDAP1
19 charcot-marie-tooth disease, dominant intermediate a 10.1 PRX MPZ GDAP1
20 charcot-marie-tooth disease, axonal, type 2f 10.1 MTMR2 MPZ GDAP1
21 charcot-marie-tooth disease type 2a2a 10.1 SH3TC2 MPZ GDAP1
22 charcot-marie-tooth disease, axonal, type 2i 10.1 SH3TC2 MPZ GDAP1
23 hereditary motor and sensory neuropathy, type iic 10.0 SH3TC2 MPZ GDAP1
24 charcot-marie-tooth disease, axonal, type 2p 10.0 GDAP1 ARHGEF10
25 neuropathy, hereditary sensory and autonomic, type iia 10.0 SH3TC2 GDAP1 FGD4
26 charcot-marie-tooth disease, axonal, type 2b2 10.0 MPZ GDAP1
27 charcot-marie-tooth disease, axonal, type 2a1 10.0 MPZ GDAP1 ARHGEF10
28 motor peripheral neuropathy 10.0 SH3TC2 GDAP1 ARHGEF10
29 mononeuropathy 10.0 SH3TC2 MPZ ARHGEF10
30 nerve compression syndrome 10.0 SH3TC2 MPZ ARHGEF10
31 early-onset glaucoma 9.9 SBF2 SBF1 MTMR2
32 charcot-marie-tooth disease type x 9.9 SH3TC2 MTMR2 MPZ GDAP1
33 charcot-marie-tooth disease, dominant intermediate c 9.9 MPZ GDAP1
34 charcot-marie-tooth disease, demyelinating, type 1d 9.9 PRX MTMR2 MPZ GDAP1
35 polyneuropathy 9.8 SH3TC2 PRX MPZ GDAP1
36 charcot-marie-tooth disease, axonal, type 2d 9.8 MPZ GDAP1
37 charcot-marie-tooth disease, dominant intermediate e 9.8 SH3TC2 SBF2 MTMR2 MPZ GDAP1
38 charcot-marie-tooth disease, axonal, type 2j 9.8 SH3TC2 SBF2 MTMR2 MPZ GDAP1
39 charcot-marie-tooth disease intermediate type 9.8 SH3TC2 SBF2 MTMR2 MPZ GDAP1
40 charcot-marie-tooth disease, dominant intermediate b 9.8 SH3TC2 SBF2 MTMR2 MPZ GDAP1
41 charcot-marie-tooth disease, axonal, type 2b 9.8 SH3TC2 SBF2 MTMR2 MPZ GDAP1
42 charcot-marie-tooth disease, x-linked dominant, 1 9.7 SH3TC2 PRX MTMR2 MPZ GDAP1
43 aarskog-scott syndrome 9.7 FGD4 FGD3 FGD1 CDC42
44 charcot-marie-tooth disease, type 4c 9.6 SH3TC2 SBF2 MTMR2 MPZ GDAP1 FGD4
45 charcot-marie-tooth disease, type 4a 9.6 SH3TC2 SBF2 PRX MTMR2 MPZ GDAP1
46 charcot-marie-tooth disease, demyelinating, type 1b 9.6 SH3TC2 SBF2 PRX MTMR2 MPZ GDAP1
47 yunis-varon syndrome 9.5 SBF2 PIKFYVE MTMR2 FIG4
48 corneal dystrophy, fleck 9.5 SBF2 PIKFYVE MTMR2 FIG4
49 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 9.5 SH3TC2 PRX MPZ GDAP1 FIG4 FGD4
50 charcot-marie-tooth disease, demyelinating, type 1f 9.4 SH3TC2 SBF2 SBF1 MTMR2 MPZ FGD4

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



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

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

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

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 areflexia 31 HP:0001284
3 pes cavus 31 HP:0001761
4 decreased motor nerve conduction velocity 31 HP:0003431
5 waddling gait 31 HP:0002515
6 motor delay 31 HP:0001270
7 talipes equinovarus 31 HP:0001762
8 hyporeflexia 31 HP:0001265
9 upper limb muscle weakness 31 HP:0003484
10 distal lower limb muscle weakness 31 HP:0009053
11 peripheral demyelination 31 HP:0011096
12 distal sensory impairment 31 HP:0002936
13 distal lower limb amyotrophy 31 HP:0008944
14 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
15 onion bulb formation 31 HP:0003383

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus
pes equinus

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
delayed motor development
decreased motor nerve conduction velocity (ncv) (less than 38 m/s)
more

Clinical features from OMIM:

609311

UMLS symptoms related to Charcot-Marie-Tooth Disease, Type 4h:


waddling gait

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ARHGEF10 FGD4 FIG4 GDAP1 MPZ MTMR2
2 nervous system MP:0003631 9.36 ARHGEF10 FGD4 FIG4 GDAP1 MPZ MTMR2

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

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 4h 29 FGD4

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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Type 4h:

40
Eye

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

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

(show all 15)
# Title Authors PMID Year
1
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 61 56 6
19332693 2009
2
A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H. 61 56 6
19221294 2009
3
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. 61 56 6
17564959 2007
4
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11. 61 56 6
15744041 2005
5
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. 56 6
17564972 2007
6
Charcot-Marie-Tooth Neuropathy Type 4H 61 6
23926620 2013
7
Charcot-Marie-Tooth Neuropathy Type 4 61 6
20301641 1998
8
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
9
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4. 61
31152969 2019
10
A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement. 61
28847448 2017
11
Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families. 61
26400421 2015
12
The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation. 61
23770104 2013
13
A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family. 61
23550889 2013
14
Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells. 61
23171661 2012
15
Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H). 61
22734899 2012

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

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

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGD4 NM_139241.3(FGD4):c.670C>T (p.Arg224Ter)SNV Pathogenic 1011 rs118203972 12:32751500-32751500 12:32598566-32598566
2 FGD4 FGD4, 893T-GSNV Pathogenic 1012
3 FGD4 NM_139241.3(FGD4):c.1756G>T (p.Gly586Ter)SNV Pathogenic 1014 rs118203973 12:32778708-32778708 12:32625774-32625774
4 FGD4 NM_139241.3(FGD4):c.1698G>H (p.Met566Ile)SNV Pathogenic 38444 rs281865064 12:32778650-32778650 12:32625716-32625716
5 FGD4 NM_139241.3(FGD4):c.893T>G (p.Met298Arg)SNV Pathogenic 38445 rs63749871 12:32755151-32755151 12:32602217-32602217
6 FGD4 NM_139241.3(FGD4):c.823C>T (p.Arg275Ter)SNV Pathogenic 1016 rs118203974 12:32754344-32754344 12:32601410-32601410
7 FGD4 NM_139241.3(FGD4):c.514del (p.Ala172fs)deletion Pathogenic 598938 rs1565869918 12:32735312-32735312 12:32582378-32582378
8 FGD4 NM_139241.3(FGD4):c.2211dup (p.Ala738fs)duplication Pathogenic 598939 rs1565942358 12:32793376-32793377 12:32640442-32640443
9 FGD4 GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4copy number gain Likely pathogenic 598942 12:32711272-32788014
10 FGD4 NM_139241.3(FGD4):c.1762-2A>GSNV Conflicting interpretations of pathogenicity 1017 rs281865065 12:32786481-32786481 12:32633547-32633547
11 FGD4 NM_139241.3(FGD4):c.1325G>A (p.Arg442His)SNV Conflicting interpretations of pathogenicity 38443 rs281865063 12:32764204-32764204 12:32611270-32611270
12 FGD4 NM_139241.3(FGD4):c.893T>C (p.Met298Thr)SNV Conflicting interpretations of pathogenicity 1015 rs63749871 12:32755151-32755151 12:32602217-32602217
13 FGD4 NM_001304480.1(FGD4):c.1962_1963AG[1] (p.Glu655fs)short repeat Conflicting interpretations of pathogenicity 1013 rs1565921326 12:32777993-32777994 12:32625059-32625060
14 FGD4 NM_001304481.1(FGD4):c.8del (p.Gly3fs)deletion Uncertain significance 587565 rs1357153004 12:32639070-32639070 12:32486136-32486136
15 FGD4 NM_139241.3(FGD4):c.956G>A (p.Arg319His)SNV Uncertain significance 587439 rs533939591 12:32755214-32755214 12:32602280-32602280
16 FGD4 NM_001370298.1(FGD4):c.123C>G (p.Ile41Met)SNV Benign 802832 12:32552769-32552769 12:32399835-32399835
17 FGD4 NM_139241.3(FGD4):c.1305G>A (p.Arg435=)SNV Benign 137368 rs10844253 12:32764184-32764184 12:32611250-32611250
18 FGD4 NM_139241.3(FGD4):c.1518G>A (p.Ala506=)SNV Benign 137369 rs11052110 12:32777362-32777362 12:32624428-32624428

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

73
# Symbol AA change Variation ID SNP ID
1 FGD4 p.Met298Arg VAR_034957 rs63749871
2 FGD4 p.Met298Thr VAR_044321 rs63749871

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

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

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

Pathways related to Charcot-Marie-Tooth Disease, Type 4h according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 FGD4 FGD3 FGD1 CDC42 ARHGEF10
2 12.19 PIKFYVE FGD3 FGD1 CDC42
3
Show member pathways
12.11 FGD4 FGD3 FGD1 CDC42 ARHGEF10
4
Show member pathways
11.84 PIKFYVE MTMR2 FIG4
5 11.4 GDAP1 CDC42 ARHGEF10
6 10.85 FGD1 CDC42
7 10.3 FGD4 FGD1 CDC42

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

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 RABGAP1 NDRG1 FGD4 FGD3 FGD1 CDC42
2 perinuclear region of cytoplasm GO:0048471 9.65 SBF2 SBF1 PIKFYVE NDRG1 MTMR2
3 lamellipodium GO:0030027 9.61 FGD4 FGD3 FGD1
4 early endosome membrane GO:0031901 9.54 PIKFYVE MTMR2 FIG4
5 vacuolar membrane GO:0005774 9.4 SBF2 MTMR2
6 cytosol GO:0005829 9.4 SBF2 SBF1 RABGAP1 PIKFYVE NDRG1 MTMR2
7 ruffle GO:0001726 9.33 FGD4 FGD3 FGD1
8 endosome membrane GO:0010008 9.26 SBF2 PIKFYVE MTMR2 FIG4

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell shape GO:0008360 9.76 FGD4 FGD3 FGD1 CDC42
2 regulation of small GTPase mediated signal transduction GO:0051056 9.73 FGD4 FGD3 FGD1 CDC42
3 cytoskeleton organization GO:0007010 9.71 FGD4 FGD3 FGD1
4 regulation of Rho protein signal transduction GO:0035023 9.67 FGD4 FGD3 FGD1 ARHGEF10
5 actin cytoskeleton organization GO:0030036 9.65 FGD4 FGD3 FGD1 CDC42 ARHGEF10
6 phosphatidylinositol biosynthetic process GO:0006661 9.62 SBF1 PIKFYVE MTMR2 FIG4
7 phosphatidylinositol metabolic process GO:0046488 9.58 PIKFYVE MTMR2 FIG4
8 myelination in peripheral nervous system GO:0022011 9.52 SH3TC2 ARHGEF10
9 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.51 PIKFYVE FIG4
10 negative regulation of myelination GO:0031642 9.49 MTMR2 FIG4
11 peripheral nervous system myelin maintenance GO:0032287 9.48 SH3TC2 NDRG1
12 myelin assembly GO:0032288 9.33 PIKFYVE MTMR2 FIG4
13 filopodium assembly GO:0046847 9.26 FGD4 FGD3 FGD1 CDC42
14 regulation of GTPase activity GO:0043087 9.1 SBF2 SBF1 RABGAP1 FGD4 FGD3 FGD1

Molecular functions related to Charcot-Marie-Tooth Disease, Type 4h according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 9.56 FGD4 FGD3 FGD1 ARHGEF10
2 phosphatidylinositol-3-phosphatase activity GO:0004438 9.37 MTMR2 FIG4
3 phosphatase regulator activity GO:0019208 9.32 SBF2 SBF1
4 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity GO:0043813 9.16 PIKFYVE FIG4
5 small GTPase binding GO:0031267 9.13 FGD4 FGD3 FGD1
6 Rho guanyl-nucleotide exchange factor activity GO:0005089 8.92 FGD4 FGD3 FGD1 ARHGEF10

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

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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