FEOM
MCID: TKL001
MIFTS: 50

Tukel Syndrome (FEOM)

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Tukel Syndrome

MalaCards integrated aliases for Tukel Syndrome:

Name: Tukel Syndrome 56 12 52 29 13 71
Congenital Fibrosis of the Extraocular Muscles 12 24 25 36 29 6 15 17 71
Congenital Fibrosis of Extraocular Muscles 52 25 58 29
Cfeom 24 25 54
Cfeom-U 56 52
Feom 52 58
Fibrosis of Extraocular Muscles, Congenital, with Ulnar Hand Anomalies 56
Congenital Extraocular Muscle Fibrosis with Ulnar Hand Anomalies 52
Fibrosis of Extraocular Muscles, Congenital, 4; Cfeom4 56
Congenital Fibrosis of the Extraocular Muscles 4 29
Fibrosis of Extraocular Muscles, Congenital, 4 56
Congenital External Ophthalmoplegia 25
Congenital Fibrosis Syndrome 25
General Fibrosis Syndrome 25
Cfeom4 56

Characteristics:

Orphanet epidemiological data:

58
congenital fibrosis of extraocular muscles
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
tukel syndrome:
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Penetrance in cfeom1a, cfeom1b, cfeom2, cfeom3b, cfeom3c, and tukel syndrome is complete....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080143
OMIM 56 609428
OMIM Phenotypic Series 56 PS135700
KEGG 36 H00838
ICD10 via Orphanet 33 H49.8
UMLS via Orphanet 72 C1302995
Orphanet 58 ORPHA45358
MedGen 41 C1836217
UMLS 71 C1302995 C1836217

Summaries for Tukel Syndrome

Genetics Home Reference : 25 Congenital fibrosis of the extraocular muscles (CFEOM) is a disorder of the nervous system that affects use of the muscles that surround the eyes (extraocular muscles). These muscles control eye movement and the direction of the eyes (for example, looking straight ahead). CFEOM impairs control of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may look in different directions (strabismus). Instead of moving their eyes, affected individuals may need to turn their head to track moving objects. Additionally, most people with CFEOM have droopy eyelids (ptosis), which further limits their vision. Researchers have identified several forms of CFEOM, designated CFEOM1, CFEOM2, CFEOM3, and Tukel syndrome (sometimes called CFEOM4). The specific problems with eye movement vary among the types, and some types are associated with additional signs and symptoms. People with CFEOM1 and CFEOM2 have only the eye problems described above. In CFEOM1, the eyes typically point downward, whereas in CFEOM2, the eyes usually turn outward. CFEOM3 can include additional neurological problems, such as intellectual disability; difficulty with social skills; a smaller-than-normal head size (microcephaly); muscle weakness in the face; nonfunctioning vocal cords; and a set of symptoms called Kallmann syndrome, which features delayed or absent puberty and an impaired sense of smell. Some affected individuals develop pain, weakness, or a decreased ability to feel sensations in the limbs (peripheral neuropathy), which can begin in childhood or adulthood. Brain abnormalities can also occur in people with CFEOM3. Some have abnormal development of the white matter, which is brain tissue containing nerve cell fibers (axons) that transmit nerve impulses. A particular form of CFEOM3, known as CFEOM3 with polymicrogyria, is characterized by abnormal development of the brain, in which the folds and ridges on the surface of the brain are smaller and more numerous than usual. Tukel syndrome is characterized by missing fingers (oligodactyly) and other hand abnormalities in addition to problems with eye movement.

MalaCards based summary : Tukel Syndrome, also known as congenital fibrosis of the extraocular muscles, is related to fibrosis of extraocular muscles, congenital, 2 and ptosis, and has symptoms including ophthalmoplegia An important gene associated with Tukel Syndrome is KIF21A (Kinesin Family Member 21A), and among its related pathways/superpathways are Phagosome and Gap junction. The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and bone, and related phenotypes are ptosis and carpal synostosis

NIH Rare Diseases : 52 Congenital fibrosis of extraocular muscles (CFEOM) refers to a group of rare conditions that affect the normal development and function of the muscles that control eye movement and position. In general, people affected by these conditions are unable to move their eyes in certain directions and often have strabismus and/or droopy eyelids (ptosis ); however, the severity of the condition and the associated signs and symptoms vary significantly by subtype. CFEOM can be caused by changes (mutations ) in several genes , including KIF21A , TUBB3 , PHOX2A , and TUBB2B . In some cases, the underlying genetic cause is unknown. CFEOM can be inherited in an autosomal dominant or autosomal recessive manner, depending on the subtype. Treatment is based on the signs and symptoms present in each person.

KEGG : 36 Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear (CN 4) nerves, and/or the muscles these nerves innervate. CFEOM is characterized by non-progressive, restrictive ophthalmoplegia of the extraocular muscles and congenital blepharoptosis. Several clinical phenotypes for familial CFEOM have been delineated.

More information from OMIM: 609428 PS135700
GeneReviews: NBK1348

Related Diseases for Tukel Syndrome

Diseases related to Tukel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 fibrosis of extraocular muscles, congenital, 2 31.6 PHOX2A KIF21A
2 ptosis 31.4 TUBB6 TUBB3 TNNI3K PHOX2A NT5C3A KIF21A
3 hypotropia 31.3 TNNI3K PHOX2A KIF21A CHN1
4 exotropia 31.1 TNNI3K ROBO3 PHOX2A NT5C3A KIF21A CHN1
5 enophthalmos 31.1 TNNI3K PHOX2A NT5C3A
6 strabismus 31.0 TUBB3 TUBB2B TNNI3K ROBO3 PHOX2A NT5C3A
7 amblyopia 31.0 TUBB3 PHOX2A KIF21A CHN1
8 marcus gunn phenomenon 30.9 PHOX2A KIF21A
9 esotropia 30.7 ROBO3 PHOX2A NT5C3A KIF21A CHN1
10 tubulinopathies 30.5 TUBB3 TUBB2B TUBB2A TUBA8 TUBA1A
11 hypertropia 30.5 TNNI3K ROBO3 PHOX2A NT5C3A KIF21A
12 congenital ptosis 30.4 TUBB6 TNNI3K ROBO3 PHOX2A NT5C3A KIF21A
13 paralytic squint 30.4 TUBB2B TUBA1A PHOX2A NT5C3A KIF21A CHN1
14 tubulin, beta 30.4 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1
15 facial paralysis 30.4 NT5C3A KIF21A
16 ocular motility disease 30.3 TUBB2B TNNI3K ROBO3 PHOX2A NT5C3A KIF21A
17 duane retraction syndrome 30.0 TUBB6 TUBB2B TNNI3K ROBO3 PHOX2A NT5C3A
18 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 11.7
19 fibrosis of extraocular muscles, congenital, with synergistic divergence 11.5
20 fibrosis of extraocular muscles, congenital, 1 11.3
21 mechanical strabismus 10.8
22 kearns-sayre syndrome 10.7
23 myotonic cataract 10.5 PHOX2A KIF21A
24 dissociated nystagmus 10.5 ROBO3 NT5C3A
25 microphthalmia, isolated 5 10.5 TUBB2B PHOX2A KIF21A
26 alternating exotropia 10.5
27 tubulinopathy-associated dysgyria 10.5 TUBB3 TUBB2B TUBA1A
28 microlissencephaly 10.5 TUBB2B TUBA1A
29 accommodative esotropia 10.5 PHOX2A CHN1
30 orbital disease 10.5 PHOX2A NT5C3A KIF21A
31 cortical dysplasia, complex, with other brain malformations 1 10.4 TUBB3 TUBB2B
32 facial nerve disease 10.4 ROBO3 NT5C3A KIF21A
33 miller-dieker lissencephaly syndrome 10.4 TUBB2B TUBA8 TUBA1A
34 duane-radial ray syndrome 10.4 ROBO3 PHOX2A KIF21A CHN1
35 cranial nerve disease 10.4 PHOX2A NT5C3A KIF21A
36 band heterotopia 10.4 TUBB2B TUBA8 TUBA1A
37 partial third-nerve palsy 10.4 TUBB2B NT5C3A KIF21A CHN1
38 abducens nerve disease 10.4 NT5C3A CHN1
39 lissencephaly 2 10.4 TUBB2B TUBA1A
40 congenital nervous system abnormality 10.4 TUBB2B TUBA8 TUBA1A
41 goldberg-shprintzen syndrome 10.3 TUBB2B TUBA8
42 suppression amblyopia 10.3
43 keratopathy 10.3
44 movement disease 10.3
45 periventricular nodular heterotopia 10.2 TUBB2B TUBA8 TUBA1A
46 astigmatism 10.2
47 cortical dysplasia, complex, with other brain malformations 7 10.2
48 autosomal recessive disease 10.2
49 monocular esotropia 10.2
50 lagophthalmos 10.2

Graphical network of the top 20 diseases related to Tukel Syndrome:



Diseases related to Tukel Syndrome

Symptoms & Phenotypes for Tukel Syndrome

Human phenotypes related to Tukel Syndrome:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 carpal synostosis 31 HP:0009702
3 postaxial oligodactyly 31 HP:0006210
4 syndactyly 31 HP:0001159
5 congenital fibrosis of extraocular muscles 31 HP:0001491
6 compensatory chin elevation 31 HP:0001477
7 restrictive external ophthalmoplegia 31 HP:0007936
8 carpal bone aplasia 31 HP:0004231
9 nonprogressive restrictive external ophthalmoplegia 31 HP:0007831

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
blepharoptosis
congenital fibrosis of extraocular muscles (cfeom)
unilateral (right eye) involvement
nonprogressive restrictive ophthalmoplegia (superior rectus, inferior oblique, levator palpebralis dysfunction)

Head And Neck Head:
compensatory head tilt/chin elevation

Skeletal Hands:
fused carpal bones
bilateral postaxial oligodactyly/oligosyndactyly (right side affected greater than left)
absent carpal bones

Clinical features from OMIM:

609428

UMLS symptoms related to Tukel Syndrome:


ophthalmoplegia

MGI Mouse Phenotypes related to Tukel Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.9 CHN1 COL25A1 KIF21A KIF27 KIF7 PHOX2A
2 nervous system MP:0003631 9.73 CHN1 COL25A1 KIF21A KIF21B KIF27 KIF7
3 respiratory system MP:0005388 9.17 COL25A1 KIF27 KIF7 PHOX2A ROBO3 TUBB2B

Drugs & Therapeutics for Tukel Syndrome

Drugs for Tukel Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 1
2 Immunologic Factors Phase 1
3 Angiogenesis Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 1 Study of HLA-A*2402 Restricted Antiangiogenic Peptide Vaccine Therapy Using Epitope Peptide Derived Feom VEGFR1 and VEGFR2 in Treating Patients With Unresectable, Recurrent, or Metastatic Hepatocellular Carcinoma Unknown status NCT01266707 Phase 1
2 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search NIH Clinical Center for Tukel Syndrome

Genetic Tests for Tukel Syndrome

Genetic tests related to Tukel Syndrome:

# Genetic test Affiliating Genes
1 Congenital Fibrosis of the Extraocular Muscles 29
2 Congenital Fibrosis of the Extraocular Muscles 4 29
3 Tukel Syndrome 29
4 Congenital Fibrosis of Extraocular Muscles 29

Anatomical Context for Tukel Syndrome

MalaCards organs/tissues related to Tukel Syndrome:

40
Eye, Brain, Bone, Cortex, Testes

Publications for Tukel Syndrome

Articles related to Tukel Syndrome:

(show top 50) (show all 177)
# Title Authors PMID Year
1
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. 61 56 24
15863670 2005
2
KIF21A variant R954W in familial or sporadic cases of CFEOM1. 54 24 61
19551685 2009
3
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. 54 61 24
16157808 2005
4
KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. 24 61 54
15827546 2005
5
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. 24 54 61
15621876 2004
6
A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). 24 54 61
14597037 2003
7
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. 24 61
26639658 2016
8
A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon. 61 24
26190014 2015
9
Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. 24 61
25559402 2015
10
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. 61 24
24612975 2014
11
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. 61 24
24656932 2014
12
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome. 61 24
24715754 2014
13
Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles. 61 24
24426772 2014
14
CFEOM1-associated kinesin KIF21A is a cortical microtubule growth inhibitor. 24 61
24120883 2013
15
Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia. 24 61
23799907 2013
16
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. 61 24
23378218 2013
17
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 24 61
23001566 2012
18
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). 61 24
22465342 2012
19
KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1. 24 61
21805025 2011
20
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. 24 61
21264235 2011
21
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). 61 24
21042561 2010
22
Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. 24 61
20393110 2010
23
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles. 61 24
19896199 2010
24
Unexpected clinical involvement of hereditary total leuconychia with congenital fibrosis of the extraocular muscles in three generations. 24 61
19489868 2009
25
[Magnetic resonance imaging features in two Chinese family with congenital fibrosis of extraocular muscles]. 61 24
20137413 2009
26
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. 24 61
18332320 2008
27
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. 61 24
17511870 2007
28
Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. 61 24
17389489 2007
29
Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. 24 61
16815872 2006
30
Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. 61 24
16365788 2005
31
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome. 24 61
16388177 2005
32
Hypoplastic oculomotor nerve and absent abducens nerve in congenital fibrosis syndrome and synergistic divergence with magnetic resonance imaging. 24 61
15808269 2005
33
Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. 24 61
15671279 2005
34
Congenital fibrosis of the extraocular muscles with brain-stem abnormalities: a novel finding. 24 61
15491041 2004
35
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). 24 61
15223798 2004
36
Classification and surgical management of patients with familial and sporadic forms of congenital fibrosis of the extraocular muscles. 24 61
15121385 2004
37
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). 61 24
14595441 2003
38
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. 61 24
11600883 2001
39
Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. 61 24
11425694 2001
40
CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. 24 61
10393037 1999
41
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. 61 24
9683611 1998
42
Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. 24 61
9797671 1998
43
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. 24 61
9066352 1997
44
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. 24
26130693 2015
45
Prosthetic replacement of the ocular surface ecosystem as treatment for ocular surface disease in patients with a history of Stevens-Johnson syndrome/toxic epidermal necrolysis. 24
25282251 2015
46
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. 24
25500261 2015
47
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. 24
25059107 2014
48
The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 24
24860126 2014
49
Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong. 24
23535681 2013
50
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. 24
21292473 2011

Variations for Tukel Syndrome

Expression for Tukel Syndrome

Search GEO for disease gene expression data for Tukel Syndrome.

Pathways for Tukel Syndrome

Pathways related to Tukel Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Phagosome hsa04145
2 Gap junction hsa04540

Pathways related to Tukel Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
2
Show member pathways
13.03 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
3
Show member pathways
12.9 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
4
Show member pathways
12.8 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
5
Show member pathways
12.43 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
6
Show member pathways
12.4 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
7
Show member pathways
12.33 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
8 12.28 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
9
Show member pathways
12.2 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
10 12.13 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
11 12.09 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
12
Show member pathways
12.07 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
13 11.94 KIF27 KIF21B KIF21A
14
Show member pathways
11.89 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
15
Show member pathways
11.73 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
16 11.48 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
17 11.11 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8

GO Terms for Tukel Syndrome

Cellular components related to Tukel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.13 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
2 cytoskeleton GO:0005856 9.73 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
3 kinesin complex GO:0005871 9.46 KIF7 KIF27 KIF21B KIF21A
4 microtubule GO:0005874 9.36 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8

Biological processes related to Tukel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitotic cell cycle GO:0000278 9.7 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
2 cytoskeleton organization GO:0007010 9.65 TUBB6 TUBB3 TUBB2B TUBA8 TUBA1A
3 microtubule-based movement GO:0007018 9.62 KIF7 KIF27 KIF21B KIF21A
4 microtubule cytoskeleton organization GO:0000226 9.56 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
5 microtubule-based process GO:0007017 9.17 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8

Molecular functions related to Tukel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.8 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
2 nucleotide binding GO:0000166 9.77 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
3 microtubule binding GO:0008017 9.71 KIF7 KIF27 KIF21B KIF21A
4 GTPase activity GO:0003924 9.7 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8
5 ATPase activity GO:0016887 9.67 KIF7 KIF27 KIF21B KIF21A
6 microtubule motor activity GO:0003777 9.62 KIF7 KIF27 KIF21B KIF21A
7 motor activity GO:0003774 9.61 KIF7 KIF27 KIF21A
8 structural constituent of cytoskeleton GO:0005200 9.17 TUBB6 TUBB3 TUBB2B TUBB2A TUBB1 TUBA8

Sources for Tukel Syndrome

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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