SCHZC
MCID: SCH018
MIFTS: 51

Schizencephaly (SCHZC)

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

Aliases & Classifications for Schizencephaly

MalaCards integrated aliases for Schizencephaly:

Name: Schizencephaly 58 77 54 55 60 76 38 30 13 56 6 41 74
Familial Schizencephaly 54 60 74
Schzc 76

Characteristics:

Orphanet epidemiological data:

60
schizencephaly
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age;

Classifications:



Summaries for Schizencephaly

OMIM : 58 Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness. Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see 236100). (269160)

MalaCards based summary : Schizencephaly, also known as familial schizencephaly, is related to acquired schizencephaly and holoprosencephaly 1. An important gene associated with Schizencephaly is SIX3 (SIX Homeobox 3), and among its related pathways/superpathways are Hedgehog signaling pathway and Ectoderm Differentiation. Affiliated tissues include brain, spinal cord and cortex, and related phenotypes are eeg abnormality and strabismus

NIH Rare Diseases : 54 Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. People with schizencephaly may also have an abnormally small head (microcephaly); hydrocephalus; intellectual disability; partial or complete paralysis; and/or poor muscle tone (hypotonia). Severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present. Although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors. Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.

NINDS : 55 Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits, or clefts, in the cerebral hemispheres of the brain.  Babies with clefts in both hemispheres (called bilateral clefts) commonly have developmental delays, delays in speech and language skills, and problems with brain-spinal cord communication.  Individuals with clefts in only one hemisphere (called unilateral clefts) are often paralyzed on one side of the body, but may have average to near-average intelligence.  Individuals with schizencephaly may also have an abnormally small head, cognitive delay and impairment, partial or complete paralysis, or poor muscle tone.  Most will experience seizures.  Some individuals may have an excessive accumulation of fluid in the brain called hydrocephalus. 

UniProtKB/Swiss-Prot : 76 Schizencephaly: Extremely rare human congenital disorder characterized by a full- thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid.

Wikipedia : 77 Schizencephaly (from Greek, Modern skhizein, meaning ''to split'', and enkephalos, meaning ''brain'')... more...

Related Diseases for Schizencephaly

Diseases in the Schizencephaly family:

Acquired Schizencephaly

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

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 acquired schizencephaly 33.4 EMX2 SHH SIX3
2 holoprosencephaly 1 32.1 SHH SIX3
3 neuronal migration disorders 32.0 EMX2 WDR62
4 septooptic dysplasia 30.7 HESX1 SIX3
5 hydranencephaly 30.5 COL4A1 SIX3
6 holoprosencephaly 2 30.3 SIX3 SIX3-AS1
7 lobar holoprosencephaly 30.2 SHH SIX3
8 spastic cerebral palsy 30.1 F5 SIX3
9 porencephaly 29.8 COL4A1 F5 MTHFR SIX3
10 cerebral palsy 29.4 COL4A1 F5 MTHFR
11 corpus callosum, agenesis of 11.6
12 brain small vessel disease 1 with or without ocular anomalies 11.4
13 silengo lerone pelizza syndrome 11.1
14 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 11.1
15 spastic hemiplegia 10.4 COL4A1 SIX3
16 epilepsy 10.4
17 septopreoptic holoprosencephaly 10.3 SHH SIX3
18 midline interhemispheric variant of holoprosencephaly 10.3 SHH SIX3
19 alobar holoprosencephaly 10.3 SHH SIX3
20 microform holoprosencephaly 10.3 SHH SIX3
21 chromosome 18p deletion syndrome 10.3 SHH SIX3
22 semilobar holoprosencephaly 10.3 SHH SIX3
23 microcephaly 7, primary, autosomal recessive 10.2 SHH WDR62
24 polymicrogyria 10.2
25 congenital nervous system abnormality 10.2 SHH SIX3 WDR62
26 physical disorder 10.2 SHH SIX3 WDR62
27 dystonia 10.1
28 pituitary stalk interruption syndrome 10.1 HESX1 SHH
29 axenfeld-rieger syndrome, type 1 10.1 HESX1 SHH
30 schizophrenia 10.1
31 holoprosencephaly 10.1
32 encephalocele 10.1
33 cleidocranial dysplasia 10.1 BGLAP SHH
34 fryns microphthalmia syndrome 10.1 HESX1 SOX2
35 encephalomalacia 10.0 MTHFR SIX3
36 esophageal atresia 10.0 SHH SOX2
37 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
38 arachnoid cysts 10.0
39 cytomegalovirus infection 10.0
40 tracheoesophageal fistula 10.0 SHH SOX2
41 band heterotopia 9.9 EMX2 SIX3
42 inferior vena cava interruption 9.9 F5 MTHFR
43 amaurosis fugax 9.9 F5 MTHFR
44 spinal cord infarction 9.9 F5 MTHFR
45 sudden sensorineural hearing loss 9.9 F5 MTHFR
46 cryptogenic cirrhosis 9.9 F5 MTHFR
47 catastrophic antiphospholipid syndrome 9.9 F5 MTHFR
48 retinal vascular occlusion 9.9 F5 MTHFR
49 thrombophlebitis 9.9 F5 MTHFR
50 gastroschisis 9.9 F5 MTHFR

Graphical network of the top 20 diseases related to Schizencephaly:



Diseases related to Schizencephaly

Symptoms & Phenotypes for Schizencephaly

Human phenotypes related to Schizencephaly:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
2 strabismus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000486
3 aplasia/hypoplasia of the corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0007370
4 porencephalic cyst 33 hallmark (90%) HP:0002132
5 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
6 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
7 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
8 spastic tetraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0002510
9 hemiparesis 60 33 frequent (33%) Frequent (79-30%) HP:0001269
10 agenesis of corpus callosum 33 HP:0001274
11 spasticity 60 Very frequent (99-80%)
12 cerebral cortical atrophy 33 HP:0002120
13 porencephaly 60 Very frequent (99-80%)
14 schizencephaly 33 HP:0010636

Clinical features from OMIM:

269160

MGI Mouse Phenotypes related to Schizencephaly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 COL4A1 EMX2 F5 HESX1 LHX2 MTHFR
2 embryo MP:0005380 9.98 COL4A1 EMX2 F5 HESX1 SHH SIX3
3 mortality/aging MP:0010768 9.97 COL4A1 EMX2 F5 HESX1 LHX2 MTHFR
4 nervous system MP:0003631 9.96 COL4A1 EMX2 F5 HESX1 LHX2 MTHFR
5 craniofacial MP:0005382 9.93 EMX2 HESX1 LHX2 SHH SIX3 SOX2
6 liver/biliary system MP:0005370 9.77 F5 LHX2 MTHFR SHH WDR62
7 respiratory system MP:0005388 9.76 COL4A1 EMX2 HESX1 LHX2 SHH SIX3
8 taste/olfaction MP:0005394 9.43 EMX2 HESX1 LHX2 SHH SIX3 SOX2
9 vision/eye MP:0005391 9.23 COL4A1 EMX2 HESX1 LHX2 MTHFR SHH

Drugs & Therapeutics for Schizencephaly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600

Search NIH Clinical Center for Schizencephaly

Genetic Tests for Schizencephaly

Genetic tests related to Schizencephaly:

# Genetic test Affiliating Genes
1 Schizencephaly 30 COL4A1 EMX2 SHH SIX3

Anatomical Context for Schizencephaly

MalaCards organs/tissues related to Schizencephaly:

42
Brain, Spinal Cord, Cortex, Bone, Eye, Temporal Lobe, Bone Marrow

Publications for Schizencephaly

Articles related to Schizencephaly:

(show top 50) (show all 213)
# Title Authors Year
1
Malignant hyperthermia and cerebral venous sinus thrombosis following ventriculoperitoneal shunt in an infant with schizencephaly and COL4A1 mutation. ( 31029817 )
2019
2
Latent Schizencephaly With Psychotic Phenotype or Schizophrenia With Schizencephaly? A Case Report and Review of the Literature. ( 29914267 )
2019
3
A rare case of super-refractory epileptic status in pregnant woman: Schizencephaly. ( 30012509 )
2019
4
Frontoethmoidal encephalocele presenting in concert with schizencephaly. ( 30603230 )
2018
5
COL4A1 and fetal vascular origins of schizencephaly. ( 29282339 )
2018
6
Schizencephaly in children: A single medical center retrospective study. ( 29371079 )
2018
7
Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly. ( 29760938 )
2018
8
Schizencephaly revisited. ( 30027296 )
2018
9
A Patient with Schizencephaly and Agenesis of Corpus Callosum with No Neurological Deficits. ( 30069099 )
2018
10
Incongruent hemiatrophy and hemiparkinsonism in a patient with schizencephaly. ( 30390483 )
2018
11
Schizencephaly: A Review of 734 Patients. ( 30501885 )
2018
12
Functional brain neuroimaging-guided repetitive transcranial magnetic stimulation in neurodevelopmental disorders: The case of a schizencephaly-related spastic dystonia. ( 28566157 )
2017
13
Schizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases. ( 29434494 )
2017
14
Contactin-associated protein-like (CNTNAP) 2 gene mutation in a patient with bilateral schizencephaly. ( 27233939 )
2017
15
New-Onset Seizure Associated With Schizencephaly. ( 27727044 )
2017
16
Teaching NeuroImages: Homotopic motor distribution on fMRI in closed-lip schizencephaly. ( 28069984 )
2017
17
A rare case of schizencephaly in an adult with late presentation. ( 29302567 )
2017
18
Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection. ( 26879631 )
2016
19
Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan. ( 26545857 )
2016
20
Right Homonymous Hemianopia: A Clinical Case Report of Schizencephaly. ( 26889154 )
2016
21
Successful surgery for refractory seizures associated with bilateral schizencephaly: two case reports and literature review. ( 26966118 )
2016
22
Schizencephaly: A case report and review of literature. ( 27098948 )
2016
23
"Quartered cerebrum": Bilateral schizencephaly with partial agenesis of corpus callosum. ( 27147184 )
2016
24
Bilateral giant open-lip schizencephaly: A rare case report. ( 27606022 )
2016
25
Botulinum toxin A injection of UES in schizencephaly with dysphagia: Case report. ( 26351064 )
2015
26
Successful Treatment of Refractory Seizures With Rufinamide in Children With Schizencephaly: Report of 3 Cases. ( 25051969 )
2015
27
Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly. ( 25500781 )
2015
28
Prenatal Diagnosis and Postnatal Outcome of Schizencephaly. ( 25535059 )
2015
29
Schizencephaly-diagnostics and clinical dilemmas. ( 25690450 )
2015
30
Schizencephaly: Dramatic Images in a Normally Functioning Adult. ( 25828202 )
2015
31
Schizencephaly associated psychosis. ( 26182841 )
2015
32
ERRATA: Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly. ( 26567609 )
2015
33
Intracranial sonographic features demonstrating in utero development of hemorrhagic brain damage leading to schizencephaly-associated COL4A1 mutation. ( 26576802 )
2015
34
Prenatal diagnosis of chromosome 8p23.1 microdeletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with fetal partial corpus callosum agenesis and schizencephaly. ( 26701010 )
2015
35
Large vertex meningoencephalocele with schizencephaly: An interesting case with neurosurgical challenge. ( 25250068 )
2014
36
Clinical and radiologic features of unilateral and bilateral schizencephaly in polish pediatric patients. ( 23503883 )
2014
37
Correlation of prenatal and postnatal MRI findings in schizencephaly. ( 24610904 )
2014
38
Bilateral schizencephaly Type II. ( 24719651 )
2014
39
Unilateral closed lip schizencephaly with septo-optic dysplasia. ( 24761255 )
2014
40
Prune belly and schizencephaly. ( 25114199 )
2014
41
Medical image. Schizencephaly. ( 25225763 )
2014
42
Diagnostic imaging and problems of schizencephaly. ( 25473439 )
2014
43
Schizencephaly. . ( 25906523 )
2014
44
Schizencephaly and borderline personality disorder. ( 23686060 )
2013
45
A case of schizencephaly has a normal surface EEG but abnormal intracranial EEG: epilepsia partialis continua or dystonia? ( 23545249 )
2013
46
A case of schizencephaly associated with obsessive-compulsive disorder. ( 23638447 )
2013
47
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. ( 23225343 )
2013
48
Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. ( 23266945 )
2013
49
Long-term outcome of surgical treatment of patients with intractable epilepsy associated with schizencephaly. ( 23793966 )
2013
50
Resection or multi-lobe disconnection for intractable epilepsy with open-lip schizencephaly. ( 23896548 )
2013

Variations for Schizencephaly

UniProtKB/Swiss-Prot genetic disease variations for Schizencephaly:

76
# Symbol AA change Variation ID SNP ID
1 COL4A1 p.Gly655Arg VAR_073812
2 COL4A1 p.Gly870Arg VAR_073815
3 COL4A1 p.Gly897Ser VAR_073817
4 COL4A1 p.Gly948Ser VAR_073818
5 COL4A1 p.Gly1041Glu VAR_073819
6 COL4A1 p.Gly1082Glu VAR_073820
7 COL4A1 p.Gly1326Arg VAR_073822 rs587777379
8 COL4A1 p.Gly1332Asp VAR_073823
9 COL4A1 p.Glu1615Lys VAR_073825
10 SIX3 p.Ala167Ser VAR_071343 rs387906868

ClinVar genetic disease variations for Schizencephaly:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHH NM_000193.3(SHH): c.1147G> A (p.Ala383Thr) single nucleotide variant Uncertain significance rs137853341 GRCh37 Chromosome 7, 155595836: 155595836
2 SHH NM_000193.3(SHH): c.1147G> A (p.Ala383Thr) single nucleotide variant Uncertain significance rs137853341 GRCh38 Chromosome 7, 155803142: 155803142
3 SHH NM_000193.3(SHH): c.869G> A (p.Gly290Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs104894047 GRCh37 Chromosome 7, 155596114: 155596114
4 SHH NM_000193.3(SHH): c.869G> A (p.Gly290Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs104894047 GRCh38 Chromosome 7, 155803420: 155803420
5 EMX2 EMX2, 1-BP INS insertion Pathogenic
6 EMX2 NM_004098.4(EMX2): c.407-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 10, 119305142: 119305142
7 EMX2 NM_004098.4(EMX2): c.407-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 10, 117545631: 117545631
8 EMX2 NM_004098.4(EMX2): c.407-4G> T single nucleotide variant Pathogenic GRCh37 Chromosome 10, 119305139: 119305139
9 EMX2 NM_004098.4(EMX2): c.407-4G> T single nucleotide variant Pathogenic GRCh38 Chromosome 10, 117545628: 117545628
10 EMX2 EMX2, G-T, EXON 2, NT1 single nucleotide variant Pathogenic
11 SIX3 NM_005413.3(SIX3): c.385G> T (p.Glu129Ter) single nucleotide variant Pathogenic rs387906867 GRCh37 Chromosome 2, 45169628: 45169628
12 SIX3 NM_005413.3(SIX3): c.385G> T (p.Glu129Ter) single nucleotide variant Pathogenic rs387906867 GRCh38 Chromosome 2, 44942489: 44942489
13 SIX3 NM_005413.3(SIX3): c.109G> T (p.Gly37Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199823175 GRCh37 Chromosome 2, 45169352: 45169352
14 SIX3 NM_005413.3(SIX3): c.109G> T (p.Gly37Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199823175 GRCh38 Chromosome 2, 44942213: 44942213
15 SIX3 NM_005413.3(SIX3): c.499G> T (p.Ala167Ser) single nucleotide variant Pathogenic rs387906868 GRCh37 Chromosome 2, 45169742: 45169742
16 SIX3 NM_005413.3(SIX3): c.499G> T (p.Ala167Ser) single nucleotide variant Pathogenic rs387906868 GRCh38 Chromosome 2, 44942603: 44942603
17 COL4A1 NM_001845.5(COL4A1): c.1588C> T (p.Pro530Ser) single nucleotide variant Uncertain significance rs145172612 GRCh37 Chromosome 13, 110839625: 110839625
18 COL4A1 NM_001845.5(COL4A1): c.1588C> T (p.Pro530Ser) single nucleotide variant Uncertain significance rs145172612 GRCh38 Chromosome 13, 110187278: 110187278
19 COL4A1 NM_001845.4(COL4A1): c.7C> A (p.Pro3Thr) single nucleotide variant Uncertain significance rs751749989 GRCh37 Chromosome 13, 110959368: 110959368
20 COL4A1 NM_001845.4(COL4A1): c.7C> A (p.Pro3Thr) single nucleotide variant Uncertain significance rs751749989 GRCh38 Chromosome 13, 110307021: 110307021
21 COL4A1 NM_001845.5(COL4A1): c.2093A> G (p.Lys698Arg) single nucleotide variant Uncertain significance rs375318302 GRCh38 Chromosome 13, 110182995: 110182995
22 COL4A1 NM_001845.5(COL4A1): c.2093A> G (p.Lys698Arg) single nucleotide variant Uncertain significance rs375318302 GRCh37 Chromosome 13, 110835342: 110835342
23 SIX3 NM_005413.3(SIX3): c.127G> T (p.Gly43Cys) single nucleotide variant Uncertain significance rs1436891421 GRCh37 Chromosome 2, 45169370: 45169370
24 SIX3 NM_005413.3(SIX3): c.127G> T (p.Gly43Cys) single nucleotide variant Uncertain significance rs1436891421 GRCh38 Chromosome 2, 44942231: 44942231

Expression for Schizencephaly

Search GEO for disease gene expression data for Schizencephaly.

Pathways for Schizencephaly

Pathways related to Schizencephaly according to KEGG:

38
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

Pathways related to Schizencephaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.29 HESX1 SHH SOX2
2 10.85 BGLAP SHH
3 10.63 SHH SOX2
4 10.42 HESX1 SIX3 SOX2

GO Terms for Schizencephaly

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.92 BGLAP COL4A1 F5 SHH

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 EMX2 HESX1 SHH SIX3 SOX2
2 regulation of transcription, DNA-templated GO:0006355 9.91 EMX2 HESX1 LHX2 SHH SIX3 SOX2
3 positive regulation of cell differentiation GO:0045597 9.6 SHH SOX2
4 dorsal/ventral pattern formation GO:0009953 9.59 LHX2 SHH
5 hair follicle development GO:0001942 9.58 LHX2 SHH
6 blood circulation GO:0008015 9.58 F5 MTHFR
7 eye development GO:0001654 9.57 SIX3 SOX2
8 odontogenesis GO:0042476 9.56 BGLAP SHH
9 regulation of gene expression GO:0010468 9.56 EMX2 SHH SIX3-AS1 SOX2
10 telencephalon development GO:0021537 9.54 LHX2 SIX3
11 cerebral cortex development GO:0021987 9.54 EMX2 LHX2 WDR62
12 branching involved in blood vessel morphogenesis GO:0001569 9.52 COL4A1 SHH
13 anatomical structure development GO:0048856 9.51 SHH SIX3
14 forebrain development GO:0030900 9.5 EMX2 SHH SOX2
15 anatomical structure formation involved in morphogenesis GO:0048646 9.49 LHX2 SHH
16 osteoblast development GO:0002076 9.46 BGLAP SHH
17 cell proliferation in forebrain GO:0021846 9.4 EMX2 SIX3
18 brain development GO:0007420 9.35 COL4A1 EMX2 HESX1 LHX2 SIX3
19 pituitary gland development GO:0021983 9.33 HESX1 SIX3 SOX2
20 renal system development GO:0072001 9.18 SHH
21 telencephalon regionalization GO:0021978 8.8 LHX2 SHH SIX3

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.02 EMX2 HESX1 LHX2 SIX3 SOX2

Sources for Schizencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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