CMTDIF
MCID: CHR484
MIFTS: 42

Charcot-Marie-Tooth Disease, Dominant Intermediate F (CMTDIF)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Dominant Intermediate F

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Dominant Intermediate F:

Name: Charcot-Marie-Tooth Disease, Dominant Intermediate F 57 20 29 13 6 70
Cmtdif 57 12 20 58 72
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F 12 20 58
Charcot-Marie-Tooth Disease Dominant Intermediate F 12 15
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, F 72
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type F 39
Gnb4-Related Intermediate Charcot-Marie-Tooth Neuropathy 20
Di-Cmtf 20

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant intermediate charcot-marie-tooth disease type f
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

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

Miscellaneous:
slowly progressive
males are more severely affected than females
onset around adolescence in males
later onset in females
one chinese family and 1 unrelated patient have been reported (last curated april 2013)


HPO:

31
charcot-marie-tooth disease, dominant intermediate f:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110206
OMIM® 57 615185
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA352670
UMLS 70 C3554654

Summaries for Charcot-Marie-Tooth Disease, Dominant Intermediate F

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease, dominant, intermediate type, F: 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. CMTDIF is characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range.

MalaCards based summary : Charcot-Marie-Tooth Disease, Dominant Intermediate F, also known as cmtdif, is related to hypocalcemia, autosomal dominant 2 and hypocalciuric hypercalcemia, familial, type ii. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate F is GNB4 (G Protein Subunit Beta 4), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. Related phenotypes are pes cavus and hyporeflexia

Disease Ontology : 12 A Charcot-Marie-Tooth disease intermediate type that has material basis in heterozygous mutation in the GNB4 gene on chromosome 3q28.

OMIM® : 57 CMTDIF is an autosomal dominant neurologic disorder characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range (summary by Soong et al., 2013). For a discussion of genetic heterogeneity of CMTDI, see 606482. (615185) (Updated 05-Apr-2021)

Related Diseases for Charcot-Marie-Tooth Disease, Dominant Intermediate F

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, Dominant Intermediate F via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 hypocalcemia, autosomal dominant 2 10.2 GNA15 GNA11
2 hypocalciuric hypercalcemia, familial, type ii 10.2 GNA15 GNA11
3 mental retardation, autosomal dominant 42 10.2 GNB2 GNB1
4 progressive familial heart block, type ib 10.2 GNB5 GNB2
5 pseudopseudohypoparathyroidism 10.2 GNA15 GNA11
6 night blindness, congenital stationary, type 2a 10.2 GNA15 GNA11
7 pseudohypoparathyroidism, type ia 10.1 GNA15 GNA11
8 prolonged electroretinal response suppression 10.0 RGS6 GNB5
9 osseous heteroplasia, progressive 10.0 KNG1 GNA15 GNA11
10 sturge-weber syndrome 9.9 GNA15 GNA11
11 ventricular fibrillation, paroxysmal familial, 1 9.7 KNG1 KCNJ5
12 myocardial stunning 9.7 KNG1 KCNJ5
13 long qt syndrome 1 9.5 KCNJ6 KCNJ5 KCNJ3
14 disease of mental health 8.6 TUBB4A SUCLG2 KNG1 KCNJ6 KCNJ3 GNB3
15 night blindness, congenital stationary, type 1h 7.6 TUBB4A SUCLG2 RGS6 PLCB2 KNG1 KCNJ6

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



Diseases related to Charcot-Marie-Tooth Disease, Dominant Intermediate F

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Dominant Intermediate F

Human phenotypes related to Charcot-Marie-Tooth Disease, Dominant Intermediate F:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 pes cavus 31 HP:0001761
2 hyporeflexia 31 HP:0001265
3 steppage gait 31 HP:0003376
4 hammertoe 31 HP:0001765
5 distal sensory impairment 31 HP:0002936
6 onion bulb formation 31 HP:0003383
7 axonal regeneration 31 HP:0003450

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Feet:
pes cavus
hammertoes

Neurologic Peripheral Nervous System:
hyporeflexia
steppage gait
distal sensory impairment
onion bulb formation
axonal regeneration
more

Clinical features from OMIM®:

615185 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Dominant Intermediate F:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.32 GNA11 GNB1 GNB2 GNB4 GNB5 KCNJ3

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Dominant Intermediate F

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Dominant Intermediate F

Genetic Tests for Charcot-Marie-Tooth Disease, Dominant Intermediate F

Genetic tests related to Charcot-Marie-Tooth Disease, Dominant Intermediate F:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Dominant Intermediate F 29 GNB4

Anatomical Context for Charcot-Marie-Tooth Disease, Dominant Intermediate F

Publications for Charcot-Marie-Tooth Disease, Dominant Intermediate F

Articles related to Charcot-Marie-Tooth Disease, Dominant Intermediate F:

# Title Authors PMID Year
1
Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. 57 6
23434117 2013
2
Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient. 6
27908631 2017
3
Clinical characterization and genetic analysis of a possible novel type of dominant Charcot-Marie-Tooth disease. 57
20627571 2010
4
A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy. 61
28642160 2017

Variations for Charcot-Marie-Tooth Disease, Dominant Intermediate F

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Dominant Intermediate F:

6 (show top 50) (show all 74)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNB4 NM_021629.4(GNB4):c.158G>A (p.Gly53Asp) SNV Likely pathogenic 41940 rs387907340 GRCh37: 3:179137232-179137232
GRCh38: 3:179419444-179419444
2 GNB4 NM_021629.4(GNB4):c.659A>G (p.Gln220Arg) SNV Likely pathogenic 617599 rs199615251 GRCh37: 3:179131240-179131240
GRCh38: 3:179413452-179413452
3 GNB4 NM_021629.4(GNB4):c.169A>G (p.Lys57Glu) SNV Likely pathogenic 856439 GRCh37: 3:179137221-179137221
GRCh38: 3:179419433-179419433
4 GNB4 NM_021629.4(GNB4):c.265A>G (p.Lys89Glu) SNV Likely pathogenic 41941 rs387907341 GRCh37: 3:179134283-179134283
GRCh38: 3:179416495-179416495
5 GNB4 NM_021629.4(GNB4):c.204-4C>G SNV Conflicting interpretations of pathogenicity 540924 rs377746889 GRCh37: 3:179134348-179134348
GRCh38: 3:179416560-179416560
6 GNB4 NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) SNV Conflicting interpretations of pathogenicity 488522 rs1553851490 GRCh37: 3:179134319-179134319
GRCh38: 3:179416531-179416531
7 GNB4 NM_021629.4(GNB4):c.853T>G (p.Leu285Val) SNV Uncertain significance 473894 rs554623238 GRCh37: 3:179123041-179123041
GRCh38: 3:179405253-179405253
8 GNB4 NM_021629.4(GNB4):c.227A>G (p.Asp76Gly) SNV Uncertain significance 834350 GRCh37: 3:179134321-179134321
GRCh38: 3:179416533-179416533
9 GNB4 NM_021629.4(GNB4):c.640C>T (p.Arg214Ter) SNV Uncertain significance 838258 GRCh37: 3:179131259-179131259
GRCh38: 3:179413471-179413471
10 GNB4 NM_021629.4(GNB4):c.491C>A (p.Thr164Lys) SNV Uncertain significance 843131 GRCh37: 3:179131509-179131509
GRCh38: 3:179413721-179413721
11 GNB4 NM_021629.4(GNB4):c.136C>T (p.Arg46Ter) SNV Uncertain significance 843857 GRCh37: 3:179137254-179137254
GRCh38: 3:179419466-179419466
12 GNB4 NM_021629.4(GNB4):c.826G>A (p.Val276Ile) SNV Uncertain significance 941789 GRCh37: 3:179123068-179123068
GRCh38: 3:179405280-179405280
13 GNB4 NM_021629.4(GNB4):c.204-6C>G SNV Uncertain significance 949908 GRCh37: 3:179134350-179134350
GRCh38: 3:179416562-179416562
14 GNB4 NM_021629.4(GNB4):c.204-2A>G SNV Uncertain significance 950116 GRCh37: 3:179134346-179134346
GRCh38: 3:179416558-179416558
15 GNB4 NM_021629.4(GNB4):c.733T>A (p.Ser245Thr) SNV Uncertain significance 952815 GRCh37: 3:179123161-179123161
GRCh38: 3:179405373-179405373
16 GNB4 NM_021629.4(GNB4):c.265A>C (p.Lys89Gln) SNV Uncertain significance 1001722 GRCh37: 3:179134283-179134283
GRCh38: 3:179416495-179416495
17 GNB4 NM_021629.4(GNB4):c.431-11_431-10del Deletion Uncertain significance 1002904 GRCh37: 3:179131579-179131580
GRCh38: 3:179413791-179413792
18 GNB4 NM_021629.4(GNB4):c.714A>G (p.Gly238=) SNV Uncertain significance 571166 rs1433615086 GRCh37: 3:179123180-179123180
GRCh38: 3:179405392-179405392
19 GNB4 NM_021629.4(GNB4):c.16C>G (p.Gln6Glu) SNV Uncertain significance 578762 rs1163990709 GRCh37: 3:179143973-179143973
GRCh38: 3:179426185-179426185
20 GNB4 NM_021629.4(GNB4):c.574T>G (p.Leu192Val) SNV Uncertain significance 640798 rs556759178 GRCh37: 3:179131325-179131325
GRCh38: 3:179413537-179413537
21 GNB4 NM_021629.4(GNB4):c.759T>G (p.Phe253Leu) SNV Uncertain significance 640868 rs368061934 GRCh37: 3:179123135-179123135
GRCh38: 3:179405347-179405347
22 GNB4 NM_021629.4(GNB4):c.334G>A (p.Val112Ile) SNV Uncertain significance 846643 GRCh37: 3:179132769-179132769
GRCh38: 3:179414981-179414981
23 GNB4 NM_021629.4(GNB4):c.7G>A (p.Glu3Lys) SNV Uncertain significance 854180 GRCh37: 3:179143982-179143982
GRCh38: 3:179426194-179426194
24 GNB4 NM_021629.4(GNB4):c.442T>A (p.Cys148Ser) SNV Uncertain significance 861511 GRCh37: 3:179131558-179131558
GRCh38: 3:179413770-179413770
25 GNB4 NM_021629.4(GNB4):c.766C>T (p.Arg256Cys) SNV Uncertain significance 864387 GRCh37: 3:179123128-179123128
GRCh38: 3:179405340-179405340
26 GNB4 NM_021629.4(GNB4):c.645T>G (p.Asp215Glu) SNV Uncertain significance 937795 GRCh37: 3:179131254-179131254
GRCh38: 3:179413466-179413466
27 GNB4 NM_021629.4(GNB4):c.709A>C (p.Asn237His) SNV Uncertain significance 956983 GRCh37: 3:179123185-179123185
GRCh38: 3:179405397-179405397
28 GNB4 NM_021629.4(GNB4):c.941G>A (p.Arg314His) SNV Uncertain significance 1016177 GRCh37: 3:179119083-179119083
GRCh38: 3:179401295-179401295
29 GNB4 NM_021629.4(GNB4):c.83C>G (p.Ala28Gly) SNV Uncertain significance 1018608 GRCh37: 3:179138690-179138690
GRCh38: 3:179420902-179420902
30 GNB4 NC_000003.11:g.(?_179118991)_(179143998_?)dup Duplication Uncertain significance 1023832 GRCh37: 3:179118991-179143998
GRCh38:
31 GNB4 NM_021629.4(GNB4):c.125G>A (p.Arg42Gln) SNV Uncertain significance 1025619 GRCh37: 3:179137265-179137265
GRCh38: 3:179419477-179419477
32 GNB4 NM_021629.4(GNB4):c.598G>A (p.Val200Ile) SNV Uncertain significance 577411 rs775578986 GRCh37: 3:179131301-179131301
GRCh38: 3:179413513-179413513
33 GNB4 NM_021629.4(GNB4):c.910C>T (p.Arg304Cys) SNV Uncertain significance 647446 rs201776673 GRCh37: 3:179122984-179122984
GRCh38: 3:179405196-179405196
34 GNB4 NM_021629.4(GNB4):c.137G>A (p.Arg46Gln) SNV Uncertain significance 863498 GRCh37: 3:179137253-179137253
GRCh38: 3:179419465-179419465
35 GNB4 NM_021629.4(GNB4):c.803A>G (p.Asn268Ser) SNV Uncertain significance 1038672 GRCh37: 3:179123091-179123091
GRCh38: 3:179405303-179405303
36 GNB4 NM_021629.4(GNB4):c.592A>T (p.Thr198Ser) SNV Uncertain significance 861762 GRCh37: 3:179131307-179131307
GRCh38: 3:179413519-179413519
37 GNB4 NM_021629.4(GNB4):c.95A>G (p.Gln32Arg) SNV Uncertain significance 863648 GRCh37: 3:179138678-179138678
GRCh38: 3:179420890-179420890
38 GNB4 NC_000003.12:g.(?_179401203)_(179426210_?)dup Duplication Uncertain significance 831176 GRCh37: 3:179118991-179143998
GRCh38:
39 GNB4 NM_021629.4(GNB4):c.630A>T (p.Leu210Phe) SNV Uncertain significance 849080 GRCh37: 3:179131269-179131269
GRCh38: 3:179413481-179413481
40 GNB4 NM_021629.4(GNB4):c.596T>A (p.Phe199Tyr) SNV Uncertain significance 577412 rs760894139 GRCh37: 3:179131303-179131303
GRCh38: 3:179413515-179413515
41 GNB4 NM_021629.4(GNB4):c.939_940del (p.Asn313fs) Deletion Uncertain significance 582389 rs1560208074 GRCh37: 3:179119084-179119085
GRCh38: 3:179401296-179401297
42 GNB4 NM_021629.4(GNB4):c.848G>C (p.Arg283Pro) SNV Uncertain significance 408271 rs186593898 GRCh37: 3:179123046-179123046
GRCh38: 3:179405258-179405258
43 GNB4 NM_021629.4(GNB4):c.799G>A (p.Asp267Asn) SNV Uncertain significance 473893 rs752762550 GRCh37: 3:179123095-179123095
GRCh38: 3:179405307-179405307
44 GNB4 NM_021629.4(GNB4):c.86C>T (p.Thr29Met) SNV Uncertain significance 640327 rs762114369 GRCh37: 3:179138687-179138687
GRCh38: 3:179420899-179420899
45 GNB4 NM_021629.4(GNB4):c.107A>T (p.Asn36Ile) SNV Uncertain significance 649448 rs1577031106 GRCh37: 3:179137283-179137283
GRCh38: 3:179419495-179419495
46 GNB4 NM_021629.4(GNB4):c.429A>G (p.Thr143=) SNV Uncertain significance 650686 rs1577029046 GRCh37: 3:179132674-179132674
GRCh38: 3:179414886-179414886
47 GNB4 NM_021629.4(GNB4):c.911G>A (p.Arg304His) SNV Uncertain significance 657245 rs771664047 GRCh37: 3:179122983-179122983
GRCh38: 3:179405195-179405195
48 GNB4 NM_021629.4(GNB4):c.44G>A (p.Arg15Gln) SNV Uncertain significance 572522 rs138187021 GRCh37: 3:179143945-179143945
GRCh38: 3:179426157-179426157
49 GNB4 NM_021629.4(GNB4):c.927T>A (p.Ala309=) SNV Uncertain significance 939896 GRCh37: 3:179119097-179119097
GRCh38: 3:179401309-179401309
50 GNB4 NM_021629.4(GNB4):c.196G>A (p.Asp66Asn) SNV Uncertain significance 221056 rs864622729 GRCh37: 3:179137194-179137194
GRCh38: 3:179419406-179419406

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

72
# Symbol AA change Variation ID SNP ID
1 GNB4 p.Gly53Asp VAR_069908 rs387907340
2 GNB4 p.Lys89Glu VAR_069909 rs387907341

Expression for Charcot-Marie-Tooth Disease, Dominant Intermediate F

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Dominant Intermediate F.

Pathways for Charcot-Marie-Tooth Disease, Dominant Intermediate F

Pathways related to Charcot-Marie-Tooth Disease, Dominant Intermediate F according to GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.15 RGS6 PLCB2 KNG1 GNB5 GNB4 GNB3
2
Show member pathways
13.82 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
3
Show member pathways
13.71 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
4
Show member pathways
13.63 RGS6 PLCB2 GNB5 GNB4 GNB3 GNB2
5
Show member pathways
13.58 RGS6 KNG1 GNB5 GNB4 GNB3 GNB2
6
Show member pathways
13.53 GNB5 GNB4 GNB3 GNB2 GNB1 GNA15
7
Show member pathways
13.48 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
8
Show member pathways
13.47 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
9
Show member pathways
13.4 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
10
Show member pathways
13.39 KNG1 GNB5 GNB4 GNB3 GNB2 GNB1
11
Show member pathways
13.27 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
12
Show member pathways
13.27 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
13
Show member pathways
13.2 PLCB2 KCNJ3 GNB5 GNB4 GNB3 GNB2
14
Show member pathways
13.19 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
15
Show member pathways
13.18 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
16
Show member pathways
13.15 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
17
Show member pathways
13.14 GNB5 GNB4 GNB3 GNB2 GNB1 GNA15
18
Show member pathways
13.13 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
19
Show member pathways
13.1 PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
20
Show member pathways
13.08 GNB5 GNB4 GNB3 GNB2 GNB1 GNA15
21
Show member pathways
13.05 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
22
Show member pathways
13.03 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
23
Show member pathways
13.01 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
24
Show member pathways
12.99 GNB5 GNB4 GNB3 GNB2 GNB1
25
Show member pathways
12.98 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
26
Show member pathways
12.98 PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
27
Show member pathways
12.97 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
28 12.97 PLCB2 KNG1 GNB5 GNB4 GNB3 GNB2
29
Show member pathways
12.94 GNB5 GNB4 GNB3 GNB2 GNB1 GNA15
30
Show member pathways
12.9 GNB5 GNB4 GNB3 GNB2 GNB1
31
Show member pathways
12.84 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
32
Show member pathways
12.75 GNB5 GNB4 GNB3 GNB2 GNB1 GNA15
33
Show member pathways
12.75 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
34
Show member pathways
12.74 RGS6 PLCB2 GNB5 GNB4 GNB3 GNB2
35
Show member pathways
12.7 RGS6 PLCB2 GNB5 GNB4 GNB3 GNB2
36
Show member pathways
12.7 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
37
Show member pathways
12.69 PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
38
Show member pathways
12.61 GNB5 GNB4 GNB3 GNB2 GNB1 GNA15
39
Show member pathways
12.6 PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
40
Show member pathways
12.59 PLCB2 KCNJ6 KCNJ5 KCNJ3 GNA11
41
Show member pathways
12.57 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
42 12.56 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
43
Show member pathways
12.55 RGS6 KCNJ5 KCNJ3 GNB5 GNB4 GNB3
44
Show member pathways
12.54 GNB5 GNB4 GNB3 GNB2 GNB1
45
Show member pathways
12.54 TUBB4A RGS6 GNB5 GNB4 GNB3 GNB2
46
Show member pathways
12.52 TUBB4A GNB5 GNB4 GNB3 GNB2 GNB1
47
Show member pathways
12.5 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
48
Show member pathways
12.5 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
49
Show member pathways
12.47 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
50
Show member pathways
12.46 GNB5 GNB4 GNB3 GNB2 GNB1 GNA15

GO Terms for Charcot-Marie-Tooth Disease, Dominant Intermediate F

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 TUBB4A KNG1 GNB4 GNB3 GNB2 GNB1
2 plasma membrane GO:0005886 9.73 SUCLG2 RGS6 KNG1 KCNJ6 KCNJ5 KCNJ3
3 lysosomal membrane GO:0005765 9.62 GNB4 GNB2 GNB1 GNA11
4 cell body GO:0044297 9.43 GNB3 GNB2 GNB1
5 voltage-gated potassium channel complex GO:0008076 9.33 KCNJ6 KCNJ5 KCNJ3
6 heterotrimeric G-protein complex GO:0005834 9.17 GNB5 GNB4 GNB3 GNB2 GNB1 GNA15

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.97 PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
2 regulation of ion transmembrane transport GO:0034765 9.7 KCNJ6 KCNJ5 KCNJ3
3 potassium ion transport GO:0006813 9.69 KCNJ6 KCNJ5 KCNJ3
4 platelet activation GO:0030168 9.63 GNB1 GNA15 GNA11
5 activation of phospholipase C activity GO:0007202 9.54 PLCB2 GNA15
6 action potential GO:0001508 9.49 GNA15 GNA11
7 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.48 GNB1 GNA11
8 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.43 KCNJ5 KCNJ3
9 potassium ion import across plasma membrane GO:1990573 9.43 KCNJ6 KCNJ5 KCNJ3
10 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.4 GNA15 GNA11
11 protein folding GO:0006457 9.35 GNB5 GNB4 GNB3 GNB2 GNB1
12 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.32 KCNJ5 KCNJ3
13 G protein-coupled receptor signaling pathway GO:0007186 9.32 RGS6 PLCB2 KNG1 GNB5 GNB4 GNB3
14 ventricular cardiac muscle cell membrane repolarization GO:0099625 9.16 KCNJ5 KCNJ3

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.81 SUCLG2 GNB4 GNB2 GNB1
2 GTP binding GO:0005525 9.78 TUBB4A SUCLG2 GNA15 GNA11
3 voltage-gated ion channel activity GO:0005244 9.7 KCNJ6 KCNJ5 KCNJ3
4 GTPase activity GO:0003924 9.56 TUBB4A RGS6 GNB5 GNB3 GNB2 GNB1
5 spectrin binding GO:0030507 9.54 GNB3 GNB1
6 GTPase binding GO:0051020 9.5 GNB3 GNB2 GNB1
7 G-protein beta/gamma-subunit complex binding GO:0031683 9.49 GNA15 GNA11
8 guanyl nucleotide binding GO:0019001 9.46 GNA15 GNA11
9 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.43 KCNJ5 KCNJ3
10 inward rectifier potassium channel activity GO:0005242 9.43 KCNJ6 KCNJ5 KCNJ3
11 type 2A serotonin receptor binding GO:0031826 9.4 GNA15 GNA11
12 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.37 KCNJ5 KCNJ3
13 G-protein activated inward rectifier potassium channel activity GO:0015467 9.33 KCNJ6 KCNJ5 KCNJ3
14 G-protein gamma-subunit binding GO:0031682 9.02 GNB5 GNB4 GNB3 GNB2 GNB1

Sources for Charcot-Marie-Tooth Disease, Dominant Intermediate F

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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