MCID: TBL035
MIFTS: 34

Tubulinopathy

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Tubulinopathy

MalaCards integrated aliases for Tubulinopathy:

Name: Tubulinopathy 12 6
Tubulinopathies 25 29 6
Tubulin-Related Cortical Dysgenesis 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0112227

Summaries for Tubulinopathy

Disease Ontology : 12 A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has material basis in mutation in one or more of the tubulin genes.

MalaCards based summary : Tubulinopathy, also known as tubulinopathies, is related to tubulinopathy-associated dysgyria and microlissencephaly. An important gene associated with Tubulinopathy is TUBA1A (Tubulin Alpha 1a), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Prion disease. Affiliated tissues include brain, skin and cerebellum, and related phenotypes are Increased JFH-1 genotype 2a Hepatitis C virus (HCV) infection and Increased number of mitotic cells

GeneReviews: NBK350554

Related Diseases for Tubulinopathy

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 tubulinopathy-associated dysgyria 31.1 TUBB3 TUBB2B TUBA1A
2 microlissencephaly 30.0 TUBB2B TUBA1A
3 tukel syndrome 29.0 TUBB3 TUBB2B TUBB TUBA1A
4 lissencephaly 28.8 TUBB3 TUBB2B TUBB TUBA1A
5 skin creases, congenital symmetric circumferential, 1 11.2
6 alacrima, achalasia, and mental retardation syndrome 10.1
7 microcephaly 10.1
8 paralytic squint 10.1 TUBB2B TUBA1A
9 lissencephaly 2 10.0 TUBB2B TUBA1A
10 ocular motility disease 10.0 TUBB2B TUBA1A
11 ataxia and polyneuropathy, adult-onset 10.0
12 pachygyria 10.0
13 seizure disorder 10.0
14 spasticity 10.0
15 miller-dieker lissencephaly syndrome 10.0 TUBB2B TUBA1A
16 cortical dysplasia, complex, with other brain malformations 1 10.0 TUBB3 TUBB2B
17 band heterotopia 9.9 TUBB2B TUBA1A
18 dandy-walker syndrome 9.9 TUBA1A KIAA1109
19 septooptic dysplasia 9.9 TUBA1A RALGAPB
20 lissencephaly 1 9.9
21 lissencephaly 3 9.9
22 dcx-related disorders 9.9
23 lissencephaly with cerebellar hypoplasia 9.9
24 congenital nervous system abnormality 9.9 TUBB2B TUBA1A
25 dystonia 4, torsion, autosomal dominant 9.8
26 fetal akinesia deformation sequence 1 9.8
27 corpus callosum, agenesis of 9.8
28 cortical dysplasia, complex, with other brain malformations 7 9.8
29 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.8
30 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 9.8
31 autism spectrum disorder 9.8
32 porencephaly 9.8
33 cerebellar hypoplasia 9.8
34 leukodystrophy 9.8
35 epilepsy 9.8
36 cerebral palsy 9.8
37 dystonia 9.8
38 pafah1b1-related lissencephaly/subcortical band heterotopia 9.8
39 polymicrogyria 9.8
40 hypotonia 9.8
41 tremor 9.8
42 periventricular nodular heterotopia 9.7 TUBB2B TUBA1A
43 tubulin, beta 9.5 TUBB3 TUBB2B TUBB

Graphical network of the top 20 diseases related to Tubulinopathy:



Diseases related to Tubulinopathy

Symptoms & Phenotypes for Tubulinopathy

GenomeRNAi Phenotypes related to Tubulinopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased JFH-1 genotype 2a Hepatitis C virus (HCV) infection GR00233-A-1 8.96 RALGAPB TUBB3
2 Increased number of mitotic cells GR00098-A-3 8.8 TUBA1A TUBB TUBB2B

Drugs & Therapeutics for Tubulinopathy

Search Clinical Trials , NIH Clinical Center for Tubulinopathy

Genetic Tests for Tubulinopathy

Genetic tests related to Tubulinopathy:

# Genetic test Affiliating Genes
1 Tubulinopathies 29

Anatomical Context for Tubulinopathy

MalaCards organs/tissues related to Tubulinopathy:

40
Brain, Skin, Cerebellum, Globus Pallidus

Publications for Tubulinopathy

Articles related to Tubulinopathy:

(show top 50) (show all 100)
# Title Authors PMID Year
1
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. 61 6
30744660 2019
2
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. 25 61
26130693 2015
3
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. 25 61
25059107 2014
4
The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 25 61
24860126 2014
5
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. 25 61
24702957 2014
6
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. 25 61
23361065 2013
7
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development. 25
26395554 2016
8
Disorders of Microtubule Function in Neurons: Imaging Correlates. 25
26564436 2016
9
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25
25052316 2015
10
Somatic mutations in cerebral cortical malformations. 25
25409382 2014
11
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 25
24785942 2014
12
Polymicrogyria with dysmorphic basal ganglia? Think tubulin! 25
23495813 2014
13
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. 25
23528852 2014
14
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 25
23603762 2013
15
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 25
23595291 2013
16
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. 25
22948023 2013
17
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. 25
22633752 2013
18
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. 25
23378218 2013
19
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. 25
23246003 2012
20
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 25
23001566 2012
21
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. 25
22333901 2012
22
A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance. 25
22591407 2012
23
TUBA1A mutation-associated lissencephaly: case report and review of the literature. 25
22264709 2012
24
TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. 25
21403111 2011
25
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 25
20829227 2010
26
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. 25
20466733 2010
27
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. 25
20376468 2010
28
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 25
20074521 2010
29
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. 25
19896110 2009
30
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. 25
19465910 2009
31
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. 25
18954413 2008
32
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. 25
18728072 2008
33
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. 25
18669490 2008
34
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. 25
12621583 2003
35
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. 25
9817918 1998
36
Auditory impairment in H-ABC tubulinopathy. 61
32681585 2021
37
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg. 61
33776625 2021
38
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. 61
33649541 2021
39
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies. 61
33082561 2021
40
Two different prenatal imaging cerebral patterns of tubulinopathy. 61
32149430 2021
41
Second trimester fetal MRI features in a fetus with TUBB3 gene mutation. 61
33318778 2021
42
Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing. 61
33604570 2021
43
Defining the phenotypical spectrum associated with variants in TUBB2A. 61
32571897 2021
44
Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects. 61
33453472 2021
45
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations. 61
32570172 2020
46
Pontocerebellar Hypoplasia: a Pattern Recognition Approach. 61
32410094 2020
47
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations. 61
32573066 2020
48
Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis. 61
32620025 2020
49
[Chaperone-mediated tubulinopathy caused by TBCD gene complex heterozygous variation in a child]. 61
32605349 2020
50
Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies. 61
31574570 2020

Variations for Tubulinopathy

ClinVar genetic disease variations for Tubulinopathy:

6 (show top 50) (show all 113)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TUBA1A NM_006009.4(TUBA1A):c.562A>C (p.Ile188Leu) SNV Pathogenic 7072 rs137853045 GRCh37: 12:49579587-49579587
GRCh38: 12:49185804-49185804
2 TUBA1A NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu) SNV Pathogenic 7074 rs137853047 GRCh37: 12:49578893-49578893
GRCh38: 12:49185110-49185110
3 TUBA1A NM_006009.4(TUBA1A):c.163G>A (p.Glu55Lys) SNV Pathogenic 625472 rs1565627735 GRCh37: 12:49580457-49580457
GRCh38: 12:49186674-49186674
4 TUBA1A NM_006009.4(TUBA1A):c.1205G>T (p.Arg402Leu) SNV Pathogenic 160147 rs137853044 GRCh37: 12:49578944-49578944
GRCh38: 12:49185161-49185161
5 TUBA1A NM_006009.4(TUBA1A):c.209T>C (p.Leu70Ser) SNV Pathogenic 625475 rs1565627684 GRCh37: 12:49580411-49580411
GRCh38: 12:49186628-49186628
6 TUBA1A NM_006009.4(TUBA1A):c.998C>T (p.Ala333Val) SNV Pathogenic 625476 rs1565627046 GRCh37: 12:49579151-49579151
GRCh38: 12:49185368-49185368
7 TUBA1A NM_006009.4(TUBA1A):c.481T>C (p.Tyr161His) SNV Pathogenic 625477 rs587784488 GRCh37: 12:49579668-49579668
GRCh38: 12:49185885-49185885
8 TUBA1A NM_006009.4(TUBA1A):c.703G>T (p.Val235Leu) SNV Pathogenic 625478 rs1565627190 GRCh37: 12:49579446-49579446
GRCh38: 12:49185663-49185663
9 TUBA1A NM_006009.4(TUBA1A):c.74G>T (p.Cys25Phe) SNV Pathogenic 625481 rs1565627777 GRCh37: 12:49580546-49580546
GRCh38: 12:49186763-49186763
10 TUBA1A NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser) SNV Pathogenic 160164 rs587784494 GRCh37: 12:49579341-49579341
GRCh38: 12:49185558-49185558
11 TUBA1A NM_006009.4(TUBA1A):c.4C>A (p.Arg2Ser) SNV Pathogenic 625482 rs1565627805 GRCh37: 12:49580616-49580616
GRCh38: 12:49186833-49186833
12 TUBA1A NM_006009.4(TUBA1A):c.629A>G (p.Tyr210Cys) SNV Pathogenic 625474 rs1565627253 GRCh37: 12:49579520-49579520
GRCh38: 12:49185737-49185737
13 TUBA1A NM_006009.4(TUBA1A):c.787C>A (p.Pro263Thr) SNV Pathogenic 7073 rs137853046 GRCh37: 12:49579362-49579362
GRCh38: 12:49185579-49185579
14 TUBA1A NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys) SNV Pathogenic 160148 rs587784484 GRCh37: 12:49578875-49578875
GRCh38: 12:49185092-49185092
15 TUBA1A NM_006009.4(TUBA1A):c.599G>A (p.Cys200Tyr) SNV Pathogenic 625501 rs1565627260 GRCh37: 12:49579550-49579550
GRCh38: 12:49185767-49185767
16 TUBA1A NM_006009.4(TUBA1A):c.1160C>T (p.Ala387Val) SNV Pathogenic 625502 rs1565626959 GRCh37: 12:49578989-49578989
GRCh38: 12:49185206-49185206
17 TUBA1A NM_006009.4(TUBA1A):c.337G>A (p.Glu113Lys) SNV Pathogenic 625503 rs769889742 GRCh37: 12:49580131-49580131
GRCh38: 12:49186348-49186348
18 TUBA1A NM_006009.4(TUBA1A):c.1225G>A (p.Val409Ile) SNV Pathogenic 625504 rs1565626928 GRCh37: 12:49578924-49578924
GRCh38: 12:49185141-49185141
19 TUBA1A NM_006009.4(TUBA1A):c.1186G>T (p.Asp396Tyr) SNV Pathogenic 625505 rs1565626951 GRCh37: 12:49578963-49578963
GRCh38: 12:49185180-49185180
20 TUBA1A NM_006009.4(TUBA1A):c.161G>A (p.Ser54Asn) SNV Pathogenic 625506 rs1565627740 GRCh37: 12:49580459-49580459
GRCh38: 12:49186676-49186676
21 TUBA1A NM_006009.4(TUBA1A):c.175G>A (p.Gly59Ser) SNV Pathogenic 625507 rs1565627712 GRCh37: 12:49580445-49580445
GRCh38: 12:49186662-49186662
22 TUBA1A NM_006009.4(TUBA1A):c.352G>C (p.Val118Leu) SNV Pathogenic 625508 rs863224938 GRCh37: 12:49580116-49580116
GRCh38: 12:49186333-49186333
23 TUBA1A NM_006009.4(TUBA1A):c.368G>A (p.Arg123His) SNV Pathogenic 437122 rs1555162456 GRCh37: 12:49580100-49580100
GRCh38: 12:49186317-49186317
24 TUBA1A NM_006009.4(TUBA1A):c.449C>T (p.Thr150Ile) SNV Pathogenic 625509 rs1565627339 GRCh37: 12:49579700-49579700
GRCh38: 12:49185917-49185917
25 TUBA1A NM_006009.4(TUBA1A):c.320A>G (p.His107Arg) SNV Pathogenic 625510 rs1565627517 GRCh37: 12:49580148-49580148
GRCh38: 12:49186365-49186365
26 TUBA1A NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) SNV Pathogenic 625511 rs1565627304 GRCh37: 12:49579631-49579631
GRCh38: 12:49185848-49185848
27 TUBA1A NM_006009.4(TUBA1A):c.1307G>A (p.Gly436Asp) SNV Pathogenic 625512 rs1565626851 GRCh37: 12:49578842-49578842
GRCh38: 12:49185059-49185059
28 TUBA1A NM_006009.4(TUBA1A):c.167C>T (p.Thr56Met) SNV Pathogenic 625513 rs1565627727 GRCh37: 12:49580453-49580453
GRCh38: 12:49186670-49186670
29 TUBA1A NM_006009.4(TUBA1A):c.1112T>A (p.Val371Glu) SNV Pathogenic 625514 rs1565626988 GRCh37: 12:49579037-49579037
GRCh38: 12:49185254-49185254
30 TUBA1A NM_006009.4(TUBA1A):c.302A>G (p.Asn101Ser) SNV Pathogenic 625515 rs1565627526 GRCh37: 12:49580166-49580166
GRCh38: 12:49186383-49186383
31 TUBA1A NM_006009.4(TUBA1A):c.214C>T (p.Pro72Ser) SNV Pathogenic 625516 rs1565627680 GRCh37: 12:49580406-49580406
GRCh38: 12:49186623-49186623
32 TUBA1A NM_006009.4(TUBA1A):c.473C>T (p.Ser158Leu) SNV Pathogenic 625517 rs1565627324 GRCh37: 12:49579676-49579676
GRCh38: 12:49185893-49185893
33 TUBA1A NM_006009.4(TUBA1A):c.215C>G (p.Pro72Arg) SNV Pathogenic 625518 rs1565627677 GRCh37: 12:49580405-49580405
GRCh38: 12:49186622-49186622
34 TUBA1A NM_006009.4(TUBA1A):c.908T>G (p.Val303Gly) SNV Pathogenic 625485 rs1565627104 GRCh37: 12:49579241-49579241
GRCh38: 12:49185458-49185458
35 TUBA1A NM_006009.4(TUBA1A):c.274C>G (p.Leu92Val) SNV Pathogenic 625486 rs1565627548 GRCh37: 12:49580194-49580194
GRCh38: 12:49186411-49186411
36 TUBA1A NM_006009.4(TUBA1A):c.978A>C (p.Lys326Asn) SNV Pathogenic 625487 rs1565627058 GRCh37: 12:49579171-49579171
GRCh38: 12:49185388-49185388
37 TUBA1A NM_006009.4(TUBA1A):c.1285G>C (p.Glu429Gln) SNV Pathogenic 625488 rs1565626872 GRCh37: 12:49578864-49578864
GRCh38: 12:49185081-49185081
38 TUBA1A NM_006009.4(TUBA1A):c.1177C>T (p.His393Tyr) SNV Pathogenic 438298 rs1555162288 GRCh37: 12:49578972-49578972
GRCh38: 12:49185189-49185189
39 TUBA1A NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val) SNV Pathogenic 160143 rs587784482 GRCh37: 12:49579001-49579001
GRCh38: 12:49185218-49185218
40 TUBA1A NM_006009.4(TUBA1A):c.1190T>C (p.Leu397Pro) SNV Pathogenic 7075 rs137853048 GRCh37: 12:49578959-49578959
GRCh38: 12:49185176-49185176
41 TUBA1A NM_006009.4(TUBA1A):c.1306G>C (p.Gly436Arg) SNV Pathogenic 625497 rs1565626860 GRCh37: 12:49578843-49578843
GRCh38: 12:49185060-49185060
42 TUBA1A NM_006009.4(TUBA1A):c.352G>A (p.Val118Met) SNV Pathogenic 217023 rs863224938 GRCh37: 12:49580116-49580116
GRCh38: 12:49186333-49186333
43 TUBA1A NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) SNV Pathogenic 418531 rs1064793286 GRCh37: 12:49578981-49578981
GRCh38: 12:49185198-49185198
44 TUBA1A NM_006009.4(TUBA1A):c.1096G>A (p.Gly366Arg) SNV Pathogenic 449342 rs1555162299 GRCh37: 12:49579053-49579053
GRCh38: 12:49185270-49185270
45 TUBA1A NM_006009.4(TUBA1A):c.79G>C (p.Glu27Gln) SNV Pathogenic 381537 rs1057521064 GRCh37: 12:49580541-49580541
GRCh38: 12:49186758-49186758
46 TUBA1A NM_006009.4(TUBA1A):c.190C>T (p.Arg64Trp) SNV Pathogenic 420581 rs1064794568 GRCh37: 12:49580430-49580430
GRCh38: 12:49186647-49186647
47 TUBA1A NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp) SNV Pathogenic 427202 rs587784482 GRCh37: 12:49579001-49579001
GRCh38: 12:49185218-49185218
48 TUBA1A NM_006009.4(TUBA1A):c.652G>T (p.Asp218Tyr) SNV Pathogenic 625499 rs1057517858 GRCh37: 12:49579497-49579497
GRCh38: 12:49185714-49185714
49 TUBA1A NM_006009.4(TUBA1A):c.920C>T (p.Pro307Leu) SNV Pathogenic 438589 rs1555162325 GRCh37: 12:49579229-49579229
GRCh38: 12:49185446-49185446
50 TUBA1A NM_006009.4(TUBA1A):c.381C>A (p.Asp127Glu) SNV Pathogenic 625521 rs1565627390 GRCh37: 12:49579768-49579768
GRCh38: 12:49185985-49185985

Expression for Tubulinopathy

Search GEO for disease gene expression data for Tubulinopathy.

Pathways for Tubulinopathy

Pathways related to Tubulinopathy according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 TUBB3 TUBB2B TUBB TUBA1A
2
Show member pathways
12.53 TUBB3 TUBB2B TUBB TUBA1A
3
Show member pathways
12.45 TUBB3 TUBB2B TUBB TUBA1A
4 12.19 TUBB3 TUBB TUBA1A
5
Show member pathways
12.18 TUBB3 TUBB2B TUBB TUBA1A
6
Show member pathways
12.15 TUBB3 TUBB2B TUBA1A TBCD
7
Show member pathways
12.12 TUBB3 TUBB2B TUBB TUBA1A
8
Show member pathways
11.93 TUBB3 TUBB2B TUBB TUBA1A
9 11.85 TUBB3 TUBB2B TUBB TUBA1A
10
Show member pathways
11.78 TUBB3 TUBB2B TUBB TUBA1A
11
Show member pathways
11.64 TUBB3 TUBB2B TUBA1A TBCD
12
Show member pathways
11.49 TUBB3 TUBB2B TUBB TUBA1A
13 11.23 TUBB3 TUBB2B TUBB TUBA1A
14 10.87 TUBB3 TUBB2B TUBB TUBA1A

GO Terms for Tubulinopathy

Cellular components related to Tubulinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.35 TUBB3 TUBB2B TUBB TUBA1A TBCD
2 cytoplasmic ribonucleoprotein granule GO:0036464 9.16 TUBB TUBA1A
3 microtubule GO:0005874 9.02 TUBB3 TUBB2B TUBB TUBA1A TBCD

Biological processes related to Tubulinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.56 TUBB3 TUBB2B TUBB TUBA1A
2 microtubule-based process GO:0007017 9.46 TUBB3 TUBB2B TUBB TUBA1A
3 ciliary basal body-plasma membrane docking GO:0097711 9.43 TUBB TUBA1A
4 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.4 TUBB TUBA1A
5 regulation of synapse organization GO:0050807 9.37 TUBB TUBA1A
6 mitotic cell cycle GO:0000278 9.35 TUBB3 TUBB2B TUBB TUBA1A TBCD
7 cytoskeleton-dependent intracellular transport GO:0030705 9.32 TUBB TUBA1A
8 microtubule cytoskeleton organization GO:0000226 9.02 TUBB3 TUBB2B TUBB TUBA1A TBCD

Molecular functions related to Tubulinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.46 TUBB3 TUBB2B TUBB TUBA1A
2 GTPase activity GO:0003924 9.26 TUBB3 TUBB2B TUBB TUBA1A
3 structural constituent of cytoskeleton GO:0005200 8.92 TUBB3 TUBB2B TUBB TUBA1A

Sources for Tubulinopathy

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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