BH
MCID: BND018
MIFTS: 53

Band Heterotopia (BH)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Band Heterotopia

MalaCards integrated aliases for Band Heterotopia:

Name: Band Heterotopia 56 12 73 29 6
Subcortical Band Heterotopia 12 52 25 58 29 6 15 71
Subcortical Laminar Heterotopia 12 25 58
Double Cortex Syndrome 12 52 25
Double Cortex 74 52 71
Bh 56 73
Heterotopia, Subcortical Band 25
Band Heterotopia of Brain 73
Heterotopic Cortex 12
Dc Syndrome 25
Heco 12
Sclh 25
Sbh 25
Bhy 17
Dc 52

Characteristics:

Orphanet epidemiological data:

58
subcortical band heterotopia
Inheritance: Autosomal recessive,X-linked recessive;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
may result in early death


HPO:

31
band heterotopia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111169
OMIM 56 600348
MeSH 43 D054221
NCIt 49 C116933
ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 72 C1848201
Orphanet 58 ORPHA99796
UMLS 71 C1848201 C2931857

Summaries for Band Heterotopia

Genetics Home Reference : 25 Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development. (Heterotopia means "out of place.") Normally, the neurons that make up the outer surface of the brain (cerebral cortex) are distributed in a well-organized and multi-layered way. In people with subcortical band heterotopia, some neurons that should be part of the cerebral cortex do not reach it. These neurons stop their migration process in areas of the brain where they are not supposed to be and form band-like clusters of tissue. Since these bands are located beneath the cerebral cortex, they are said to be subcortical. In most cases, the bands are symmetric, which means they occur in the same places on the right and left sides of the brain. The abnormal brain development causes neurological problems in people with subcortical band heterotopia. The signs and symptoms of the condition depend on the size of the bands and the lack of development of the cerebral cortex. The signs and symptoms can vary from severe intellectual disability and seizures that begin early in life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side of the brain (focal seizures). Some affected individuals also have weak muscle tone (hypotonia), loss of fine motor skills such as using utensils, or behavioral problems. Subcortical band heterotopia is typically found when brain imaging is done following the onset of seizures, usually in adolescence or early adulthood.

MalaCards based summary : Band Heterotopia, also known as subcortical band heterotopia, is related to lissencephaly 1 and lissencephaly, x-linked, 1. An important gene associated with Band Heterotopia is EML1 (EMAP Like 1), and among its related pathways/superpathways are Cytoskeletal Signaling and Chaperonin-mediated protein folding. Affiliated tissues include cortex, brain and fetal brain, and related phenotypes are macrocephaly and agenesis of corpus callosum

NIH Rare Diseases : 52 Subcortical band heterotopia , also known as double cortex syndrome , is a condition of abnormal brain development that is present from birth. This condition which primarily affects females, occurs when neurons migrate to an area of the brain where they are not supposed to be (heterotopia), and form abnormal areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex (subcortical), creating the appearance of a double cortex. Symptoms associated with subcortical band heterotopia vary from severe intellectual disability and epilepsy to normal intelligence with mild or no epilepsy. Subcortical band heterotopia is most often caused by mutations in the DCX gene . The condition is inherited in an X-linked dominant pattern. Some cases may be caused by a small deletion on chromosome 17 involving the LIS1 gene. Management consists of seizure control.

UniProtKB/Swiss-Prot : 73 Band heterotopia: A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum.

Wikipedia : 74 Pachygyria (from the Greek "pachy" meaning "thick" or "fat" gyri) is a congenital malformation of the... more...

More information from OMIM: 600348

Related Diseases for Band Heterotopia

Diseases in the Band Heterotopia family:

Familial Band Heterotopia

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

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 1 34.2 RELN PAFAH1B1 DCX
2 lissencephaly, x-linked, 1 34.1 PAFAH1B1 DCX
3 lissencephaly 32.6 WDR62 TUBA1A RELN PAFAH1B1 LAMB1 EML1
4 neuronal migration disorders 32.5 WDR62 TUBA1A RELN PAFAH1B1 DYNC1H1 DCX
5 pachygyria 31.3 TUBA1A PAFAH1B1 ADGRG1
6 polymicrogyria 30.8 TUBB2B TUBA8 ADGRG1
7 west syndrome 30.4 TUBA1A RELN PAFAH1B1 FLNA ARFGEF2
8 miller-dieker lissencephaly syndrome 30.3 TUBB2B TUBA8 TUBA1A RELN PAFAH1B1 DCX
9 hydrocephalus 30.1 RELN LAMB1 FLNA EML1 ARFGEF2
10 hypomelanosis of ito 30.0 PAFAH1B1 ARFGEF2
11 periventricular nodular heterotopia 29.0 WDR62 TUBG1 TUBB2B TUBA8 TUBA1A RELN
12 pafah1b1-associated lissencephaly/subcortical band heterotopia 12.7
13 familial band heterotopia 12.4
14 breath-holding spells 12.0
15 lissencephaly 5 11.5
16 chromosome 17p13.1 deletion syndrome 11.4
17 cortical dysplasia, complex, with other brain malformations 3 11.3
18 cortical dysplasia, complex, with other brain malformations 4 11.3
19 lissencephaly with cerebellar hypoplasia 10.5 RELN PAFAH1B1 DCX
20 tubulinopathy-associated dysgyria 10.5 TUBB2B TUBA1A
21 cerebellar hypoplasia 10.5 RELN PAFAH1B1 DCX
22 microlissencephaly 10.4 TUBB2B TUBA1A
23 phenylketonuria 10.4
24 paralytic squint 10.4 TUBB2B TUBA1A
25 tubulinopathies 10.4 TUBG1 TUBB2B TUBA8 TUBA1A
26 acute leukemia 10.4
27 dcx-related disorders 10.4
28 seizure disorder 10.4
29 chromosome 17p13.3, centromeric, duplication syndrome 10.3 PAFAH1B1 DCX
30 hydranencephaly 10.3 TUBG1 TUBB2B TUBA1A PAFAH1B1 LAMB1
31 aicardi syndrome 10.3 WDR62 FLNA ADGRG1
32 visual epilepsy 10.3
33 lissencephaly 2 10.3 WDR62 TUBB2B TUBA1A RELN PAFAH1B1
34 lymphocytic leukemia 10.3
35 tukel syndrome 10.3 TUBG1 TUBB2B TUBA8 TUBA1A KIF5C
36 alacrima, achalasia, and mental retardation syndrome 10.3
37 oral squamous cell carcinoma 10.3
38 squamous cell carcinoma 10.3
39 dyslexia 10.2 RELN FLNA DCX DCDC2
40 primary autosomal recessive microcephaly 10.2 WDR62 TUBA1A PAFAH1B1 ARFGEF2 ADGRG1
41 myeloid leukemia 10.2
42 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
43 periventricular nodular heterotopia 1 10.2
44 encephalopathy 10.2
45 dermatitis 10.2
46 deafness, autosomal recessive 66 10.2 DCDC2B DCDC2
47 schistosoma mansoni infection, susceptibility/ 10.1
48 lymphoma 10.1
49 neutropenia 10.1
50 schistosomiasis 10.1

Graphical network of the top 20 diseases related to Band Heterotopia:



Diseases related to Band Heterotopia

Symptoms & Phenotypes for Band Heterotopia

Human phenotypes related to Band Heterotopia:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 agenesis of corpus callosum 31 HP:0001274
3 hydrocephalus 31 HP:0000238
4 seizures 31 HP:0001250
5 spasticity 31 HP:0001257
6 sleep disturbance 31 HP:0002360
7 global developmental delay 31 HP:0001263
8 intellectual disability, severe 31 HP:0010864
9 abnormality of the skeletal system 31 HP:0000924
10 ventriculomegaly 31 HP:0002119
11 polymicrogyria 31 HP:0002126
12 gray matter heterotopia 31 HP:0002282
13 subcortical band heterotopia 31 HP:0032409

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
intellectual disability, severe
polymicrogyria
sleep disturbances
more
Head And Neck Head:
macrocephaly (+2.5 sd)

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems

Clinical features from OMIM:

600348

GenomeRNAi Phenotypes related to Band Heterotopia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with Ras GR00018-A-0 9.17 ADGRG1 DCDC2 DCX KIF5C PAFAH1B1 RAPGEF2

MGI Mouse Phenotypes related to Band Heterotopia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ADGRG1 DCDC2 DCX DYNC1H1 EML1 FLNA
2 cellular MP:0005384 10 ADGRG1 ARFGEF2 DCLK1 EML1 FLNA KIF2A
3 nervous system MP:0003631 9.89 ADGRG1 ARFGEF2 DCDC2 DCLK1 DCX DYNC1H1
4 reproductive system MP:0005389 9.28 ADGRG1 DCLK1 DCX DYNC1H1 FLNA PAFAH1B1

Drugs & Therapeutics for Band Heterotopia

Search Clinical Trials , NIH Clinical Center for Band Heterotopia

Genetic Tests for Band Heterotopia

Genetic tests related to Band Heterotopia:

# Genetic test Affiliating Genes
1 Subcortical Band Heterotopia 29
2 Band Heterotopia 29 EML1

Anatomical Context for Band Heterotopia

MalaCards organs/tissues related to Band Heterotopia:

40
Cortex, Brain, Fetal Brain, Testes, Cerebellum, Thyroid, Thalamus

Publications for Band Heterotopia

Articles related to Band Heterotopia:

(show top 50) (show all 213)
# Title Authors PMID Year
1
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. 61 6 56
24859200 2014
2
The genetic landscape of familial congenital hydrocephalus. 6 56
28556411 2017
3
[De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria]. 61
31820818 2019
4
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. 61
31630790 2019
5
Direct and Collateral Alterations of Functional Cortical Circuits in a Rat Model of Subcortical Band Heterotopia. 61
30534979 2019
6
Spared cognitive and behavioral functions prior to epilepsy onset in a rat model of subcortical band heterotopia. 61
30689978 2019
7
Spontaneous epileptiform activity in a rat model of bilateral subcortical band heterotopia. 61
30597542 2019
8
Loss of Lgl1 Disrupts the Radial Glial Fiber-guided Cortical Neuronal Migration and Causes Subcortical Band Heterotopia in Mice. 61
30597194 2019
9
Drebrin-like (Dbnl) Controls Neuronal Migration via Regulating N-Cadherin Expression in the Developing Cerebral Cortex. 61
30504273 2019
10
Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia. 61
31231230 2019
11
Size of Subcortical Band Heterotopia Influences the Susceptibility to Hyperthermia-Induced Seizures in a Rat Model. 61
31680876 2019
12
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. 61
29671837 2018
13
Laminating the mammalian cortex during development: cell polarity protein function and Hippo signaling. 61
29921662 2018
14
Comprehensive behavioral analysis of mice deficient in Rapgef2 and Rapgef6, a subfamily of guanine nucleotide exchange factors for Rap small GTPases possessing the Ras/Rap-associating domain. 61
29747665 2018
15
Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome. 61
29258966 2017
16
Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex. 61
29229923 2017
17
Prenatal and postnatal evaluation of polymicrogyria with band heterotopia. 61
28828134 2017
18
Lissencephaly: Expanded imaging and clinical classification. 61
28440899 2017
19
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. 61
28237832 2017
20
Expression of Ccdc85C, a causative protein for murine hydrocephalus, in the mammary gland tumors of dogs. 61
27457231 2017
21
Distinct Features of Doublecortin as a Marker of Neuronal Migration and Its Implications in Cancer Cell Mobility. 61
28701917 2017
22
[Subcortical laminar heterotopia 'double cortex syndrome']. 61
29213043 2017
23
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. 61
28953922 2017
24
Stimulation of the bilateral anterior nuclei of the thalamus in the treatment of refractory epilepsy: two cases of subcortical band heterotopia. 61
27965181 2016
25
Advanced structural multimodal imaging of a patient with subcortical band heterotopia. 61
28413838 2016
26
Neuroanatomical characterization of the cellular and axonal architecture of subcortical band heterotopia in the BXD29-Tlr4lps-2J/J mouse cortex. 61
27595889 2016
27
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. 61
27381655 2016
28
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 61
27240540 2016
29
Visual Impairment Due to Lissencephaly. 61
27928411 2016
30
A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies. 61
27292316 2016
31
Genetic Basis of Brain Malformations. 61
27781032 2016
32
Thyroid hormone-dependent formation of a subcortical band heterotopia (SBH) in the neonatal brain is not exacerbated under conditions of low dietary iron (FeD). 61
27216871 2016
33
Familial pachygyria in both genders related to a DCX mutation. 61
26743950 2016
34
Crucial Role of Rapgef2 and Rapgef6, a Family of Guanine Nucleotide Exchange Factors for Rap1 Small GTPase, in Formation of Apical Surface Adherens Junctions and Neural Progenitor Development in the Mouse Cerebral Cortex. 61
27390776 2016
35
Band Heterotopia: An Unusual Cause of Seizures. 61
27685882 2016
36
A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human. 61
25817838 2015
37
Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother. 61
25868952 2015
38
Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism. 61
25645638 2015
39
Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report. 61
26221167 2015
40
Normotopic cortex is the major contributor to epilepsy in experimental double cortex. 61
25074818 2014
41
Proliferative defects and formation of a double cortex in mice lacking Mltt4 and Cdh2 in the dorsal telencephalon. 61
25100583 2014
42
Evaluation of FDG-PET and ECD-SPECT in patients with subcortical band heterotopia. 61
23958594 2014
43
Subcortical band heterotopia in rat offspring following maternal hypothyroxinaemia: structural and functional characteristics. 61
24889016 2014
44
Lissencephaly with subcortical band heterotopia in an Indian family. 61
24493317 2014
45
Somatic mutations in cerebral cortical malformations. 61
25140959 2014
46
The diagnosis of band heterotopia. 61
24810876 2014
47
Chronic unlimited recording electrocorticography-guided resective epilepsy surgery: technology-enabled enhanced fidelity in seizure focus localization with improved surgical efficacy. 61
24655096 2014
48
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. 61
24585383 2014
49
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. 61
24497998 2014
50
The role of α-E-catenin in cerebral cortex development: radial glia specific effect on neuronal migration. 61
25147501 2014

Variations for Band Heterotopia

ClinVar genetic disease variations for Band Heterotopia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAFAH1B1 NM_000430.4(PAFAH1B1):c.505T>C (p.Ser169Pro)SNV Pathogenic 8076 rs121434484 17:2573562-2573562 17:2670268-2670268
2 PAFAH1B1 NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro)SNV Pathogenic 8080 rs121434488 17:2577404-2577404 17:2674110-2674110
3 PAFAH1B1 NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)SNV Pathogenic 8081 rs121434489 17:2541604-2541604 17:2638310-2638310
4 EML1 NM_004434.3(EML1):c.412C>T (p.Arg138Ter)SNV Pathogenic 254258 rs886037935 14:100344850-100344850 14:99878513-99878513
5 EML1 NM_004434.3(EML1):c.727A>G (p.Thr243Ala)SNV Pathogenic 254259 rs886037936 14:100363531-100363531 14:99897194-99897194
6 EML1 NM_004434.3(EML1):c.673T>C (p.Trp225Arg)SNV Pathogenic 254260 rs886037937 14:100361091-100361091 14:99894754-99894754
7 EML1 NM_004434.3(EML1):c.1567C>T (p.Arg523Ter)SNV Pathogenic 548146 rs1555404109 14:100380588-100380588 14:99914251-99914251

UniProtKB/Swiss-Prot genetic disease variations for Band Heterotopia:

73
# Symbol AA change Variation ID SNP ID
1 EML1 p.Trp225Arg VAR_071075 rs886037937
2 EML1 p.Thr243Ala VAR_071076 rs886037936

Expression for Band Heterotopia

Search GEO for disease gene expression data for Band Heterotopia.

Pathways for Band Heterotopia

GO Terms for Band Heterotopia

Cellular components related to Band Heterotopia according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.3 WDR62 TUBG1 TUBA1A RAPGEF2 PAFAH1B1 KIF2A
2 cytoplasm GO:0005737 10.27 WDR62 TUBG1 TUBB2B TUBA8 TUBA1A RELN
3 perinuclear region of cytoplasm GO:0048471 9.95 RAPGEF2 PAFAH1B1 LAMB1 FLNA EML1 ARFGEF2
4 centrosome GO:0005813 9.91 WDR62 TUBG1 PAFAH1B1 KIF2A DYNC1H1
5 neuron projection GO:0043005 9.89 RELN RAPGEF2 PAFAH1B1 KIF5C DCX
6 microtubule organizing center GO:0005815 9.8 WDR62 TUBG1 PAFAH1B1 KIF2A DCDC2B DCDC2
7 cytoskeleton GO:0005856 9.8 WDR62 TUBG1 TUBB2B TUBA8 TUBA1A PAFAH1B1
8 centriole GO:0005814 9.72 WDR62 TUBG1 KIF2A
9 recycling endosome GO:0055037 9.71 TUBG1 TUBA1A ARFGEF2
10 axon cytoplasm GO:1904115 9.63 PAFAH1B1 KIF5C DYNC1H1
11 microtubule cytoskeleton GO:0015630 9.63 TUBB2B TUBA8 TUBA1A PAFAH1B1 EML1 DCDC2
12 cytoplasmic microtubule GO:0005881 9.62 TUBG1 TUBA1A PAFAH1B1 DYNC1H1
13 kinesin complex GO:0005871 9.61 PAFAH1B1 KIF5C KIF2A
14 microtubule associated complex GO:0005875 9.58 PAFAH1B1 EML1 DCX
15 microtubule GO:0005874 9.4 TUBG1 TUBB2B TUBA8 TUBA1A PAFAH1B1 KIF5C

Biological processes related to Band Heterotopia according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.1 RELN RAPGEF2 PAFAH1B1 KIF2A DCX DCLK1
2 cell differentiation GO:0030154 10.09 RAPGEF2 PAFAH1B1 KIF2A FLNA DCX DCLK1
3 intracellular signal transduction GO:0035556 9.99 RAPGEF2 DCX DCLK1 DCDC2B DCDC2 ARFGEF2
4 cell migration GO:0016477 9.89 RELN PAFAH1B1 LAMB1 ADGRG1
5 brain development GO:0007420 9.88 RELN PAFAH1B1 EML1 DCX DCLK1 ADGRG1
6 G2/M transition of mitotic cell cycle GO:0000086 9.83 TUBG1 TUBA1A PAFAH1B1 DYNC1H1
7 mitotic cell cycle GO:0000278 9.83 TUBG1 TUBB2B TUBA8 TUBA1A DYNC1H1
8 central nervous system development GO:0007417 9.81 RELN DCX DCLK1
9 nervous system development GO:0007399 9.81 WDR62 TUBB2B RAPGEF2 PAFAH1B1 KIF2A DCX
10 ciliary basal body-plasma membrane docking GO:0097711 9.8 TUBG1 TUBA1A PAFAH1B1 DYNC1H1
11 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.78 TUBG1 TUBA1A PAFAH1B1 DYNC1H1
12 microtubule-based movement GO:0007018 9.77 KIF5C KIF2A DYNC1H1
13 cerebral cortex development GO:0021987 9.76 WDR62 RELN PAFAH1B1 FLNA
14 hippocampus development GO:0021766 9.75 RELN PAFAH1B1 DCX
15 mitotic spindle organization GO:0007052 9.72 WDR62 TUBG1 KIF2A EML1 DYNC1H1
16 dendrite morphogenesis GO:0048813 9.71 DCX DCLK1 DCDC2
17 layer formation in cerebral cortex GO:0021819 9.67 RELN PAFAH1B1 DCX ADGRG1
18 microtubule-based process GO:0007017 9.65 TUBG1 TUBB2B TUBA8 TUBA1A PAFAH1B1
19 positive regulation of dendritic spine morphogenesis GO:0061003 9.63 RELN PAFAH1B1
20 positive regulation of neural precursor cell proliferation GO:2000179 9.62 FLNA ADGRG1
21 neuroblast proliferation GO:0007405 9.62 PAFAH1B1 EML1
22 positive regulation of neuron migration GO:2001224 9.61 RAPGEF2 FLNA
23 nuclear migration GO:0007097 9.61 PAFAH1B1 DYNC1H1
24 retrograde axonal transport GO:0008090 9.58 PAFAH1B1 DYNC1H1
25 central nervous system projection neuron axonogenesis GO:0021952 9.57 DCX DCLK1
26 neuron migration GO:0001764 9.5 TUBB2B RELN RAPGEF2 PAFAH1B1 DCX DCLK1
27 microtubule cytoskeleton organization GO:0000226 9.17 TUBG1 TUBB2B TUBA8 TUBA1A PAFAH1B1 KIF2A

Molecular functions related to Band Heterotopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.19 WDR62 TUBG1 TUBB2B TUBA1A RAPGEF2 PAFAH1B1
2 GTPase activity GO:0003924 9.62 TUBG1 TUBB2B TUBA8 TUBA1A
3 microtubule motor activity GO:0003777 9.33 KIF5C KIF2A DYNC1H1
4 structural constituent of cytoskeleton GO:0005200 9.26 TUBG1 TUBB2B TUBA8 TUBA1A
5 microtubule binding GO:0008017 9.02 PAFAH1B1 KIF5C KIF2A EML1 DCX

Sources for Band Heterotopia

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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