ACC
MCID: CRP032
MIFTS: 47

Corpus Callosum, Agenesis of (ACC)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Corpus Callosum, Agenesis of

MalaCards integrated aliases for Corpus Callosum, Agenesis of:

Name: Corpus Callosum, Agenesis of 57
Corpus Callosum Agenesis 75 53 29 55 6
Agenesis of Corpus Callosum 29 6 40
Agenesis of the Corpus Callosum 53 54
Isolated Corpus Callosum Agenesis 53
Acc 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
corpus callosum, agenesis of:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 217990
MedGen 42 C0175754

Summaries for Corpus Callosum, Agenesis of

NINDS : 54 Agenesis of the corpus callosum (ACC) is one of several disorders of the corpus callosum, the structure that connects the two hemispheres (left and right) of the brain. In ACC the corpus callosum is partially or completely absent.  It is caused by a disruption of brain cell migration during fetal development. ACC can occur as an isolated condition or in combination with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure of the forebrain to divide into lobes.) Girls may have a gender-specific condition called Aicardi syndrome, which causes severe cognitive impairment and developmental delays, seizures, abnormalities in the vertebra of the spine, and lesions on the retina of the eye. ACC can also be associated with malformations in other parts of the body, such as midline facial defects. The effects of the disorder range from subtle or mild to severe, depending on associated brain abnormalities. Children with the most severe brain malformations may have intellectual impairment, seizures, hydrocephalus, and spasticity.  Other disorders of the corpus callosum include dysgenesis, in which the corpus callosum is developed in a malformed or incomplete way, and hypoplasia, in which the corpus callosum is thinner than usual.  Individuals with these disorders have a higher risk of hearing deficits and cardiac abnormalities than individuals with the normal structure. Impairments in social interaction and communication in individuals having a disorder of the corpus callosum may overlap with autism spectrum disorder behaviors.  It is estimated that at least one in 4,000 individuals has a disorder of the corpus callosum.

MalaCards based summary : Corpus Callosum, Agenesis of, also known as corpus callosum agenesis, is related to strabismus and white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome. An important gene associated with Corpus Callosum, Agenesis of is ADNP (Activity Dependent Neuroprotector Homeobox). Affiliated tissues include brain, eye and retina, and related phenotypes are macrocephaly and agenesis of corpus callosum

NIH Rare Diseases : 53 Corpus callosum agenesis is a birth defect in which the structure that connects the two sides of the brain (the corpus callosum) is partially or completely absent. This birth defect can occur as an isolated condition or combined with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure of the forebrain to divide into lobes.) It may also occur as part of other diseases such as Aicardi syndrome, (which only affect girls, includes corpus callosum agenesis, and other problems) or Andermann syndrome or it can also be associated with malformations in other parts of the body, such as midline facial defects. Symptoms are vary from person to person. Many people with agenesis of the corpus callosum do not have any symptoms or the symptoms may range from subtle or mild to severe, depending on whether and which associated brain abnormalities are present. The exact cause is still unknown. Treatment usually involves management of symptoms and seizures if they occur.

OMIM : 57 The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis. (217990)

Wikipedia : 75 Agenesis of the corpus callosum (ACC) is a rare birth defect (congenital disorder) in which there is a... more...

Related Diseases for Corpus Callosum, Agenesis of

Diseases related to Corpus Callosum, Agenesis of via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 651)
# Related Disease Score Top Affiliating Genes
1 strabismus 29.8 FRMD4A BCL11A
2 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 12.7
3 x-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis 12.7
4 agenesis of the corpus callosum and congenital lymphedema 12.7
5 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 12.7
6 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 12.7
7 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.7
8 corpus callosum agenesis double urinary collecting 12.6
9 corpus callosum, agenesis of, with abnormal genitalia 12.6
10 corpus callosum, agenesis of, with facial anomalies and robin sequence 12.5
11 x-linked complicated corpus callosum agenesis 12.5
12 corpus callosum agenesis of blepharophimosis robin type 12.5
13 bone dysplasia corpus callosum agenesis 12.5
14 diaphragmatic hernia exomphalos corpus callosum agenesis 12.5
15 facial clefting corpus callosum agenesis 12.5
16 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 12.5
17 syndrome with corpus callosum agenesis/dysgenesis as a major feature 12.5
18 genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature 12.5
19 obsolete: rare disease with corpus callosum agenesis associated with peripheral neuropathy 12.5
20 corpus callosum agenesis-macrocephaly-hypertelorism syndrome 12.5
21 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 12.5
22 mirror movements 1 12.4
23 opitz-kaveggia syndrome 12.2
24 agenesis of the corpus callosum with peripheral neuropathy 12.2
25 masa syndrome 12.1
26 chudley-mccullough syndrome 12.1
27 aplasia cutis congenita, nonsyndromic 12.0
28 adrenal cortical carcinoma 12.0
29 kozlowski ouvrier syndrome 11.8
30 saal bulas syndrome 11.8
31 thrombocytopenia robin sequence 11.8
32 lissencephaly 11.8
33 adenoid cystic carcinoma 11.8
34 microphthalmia, syndromic 11 11.8
35 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 11.7
36 adrenal carcinoma 11.7
37 sakoda complex 11.7
38 band heterotopia 11.7
39 opitz-gbbb syndrome 11.7
40 acrocallosal syndrome 11.6
41 aicardi syndrome 11.6
42 temtamy syndrome 11.6
43 curry-jones syndrome 11.6
44 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 11.5
45 calloso-genital dysplasia 11.5
46 duker weiss siber syndrome 11.5
47 spondylometaphyseal dysplasia, sedaghatian type 11.5
48 neu-laxova syndrome 1 11.5
49 linear skin defects with multiple congenital anomalies 1 11.5
50 fumarase deficiency 11.5

Graphical network of the top 20 diseases related to Corpus Callosum, Agenesis of:



Diseases related to Corpus Callosum, Agenesis of

Symptoms & Phenotypes for Corpus Callosum, Agenesis of

Human phenotypes related to Corpus Callosum, Agenesis of:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 agenesis of corpus callosum 32 HP:0001274
3 frontal bossing 32 HP:0002007
4 intellectual disability 32 HP:0001249
5 microcephaly 32 HP:0000252
6 prominent forehead 32 HP:0011220
7 growth delay 32 HP:0001510
8 preauricular skin tag 32 HP:0000384
9 camptodactyly 32 HP:0012385
10 joint contracture of the hand 32 HP:0009473

Symptoms via clinical synopsis from OMIM:

57
H E E N T:
macrocephaly
microcephaly
prominent forehead
preauricular skin tag
mental retardation
more
Limbs:
camptodactyly

Misc:
recurrent bronchopneumonia
death under 3 years

Neuro:
agenesis of corpus callosum

Growth:
retardation

Clinical features from OMIM:

217990

GenomeRNAi Phenotypes related to Corpus Callosum, Agenesis of according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.23 SETD2
2 Increased Nanog expression GR00371-A-2 9.23 SETD2
3 Increased Nanog expression GR00371-A-4 9.23 BCL11A SETD2
4 Increased Nanog expression GR00371-A-5 9.23 ADNP BCL11A MED12 SETD2

MGI Mouse Phenotypes related to Corpus Callosum, Agenesis of:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.5 ADNP ARID1B ARX BCL11A DCC MED12
2 nervous system MP:0003631 9.17 ADNP ARID1B ARX BCL11A DCC MED12

Drugs & Therapeutics for Corpus Callosum, Agenesis of

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Phase 1 Pilot Study of Bioengineered Penile Tissue Constructs in Subjects With Irreversibly Damaged Penile Corpora Not yet recruiting NCT03463239 Phase 1
2 BECOME CHILDREN OF HOLDERS Corpus Callosum Agenesis Screened IN PERIOD Antenatal Unknown status NCT02826824
3 Metabolic Screening in Patients With Donnai-Barrow Syndrome Unknown status NCT01509287
4 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
5 Corpus Callosum Agenesis and Intellectual Disability: Genetic and Phenotypic Characterization Completed NCT02167568
6 Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum Recruiting NCT03600792
7 Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation Recruiting NCT03680651
8 Disorders of Cerebral Development: A Phenotypic and Genetic Analysis Recruiting NCT00305305
9 Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome Recruiting NCT00697411
10 Genetic Analysis of Brain Disorders Recruiting NCT00645645
11 Outcome of Infants With Prenatal Corpus Callosum Agenesis Active, not recruiting NCT02267161

Search NIH Clinical Center for Corpus Callosum, Agenesis of

Genetic Tests for Corpus Callosum, Agenesis of

Genetic tests related to Corpus Callosum, Agenesis of:

# Genetic test Affiliating Genes
1 Corpus Callosum Agenesis 29
2 Agenesis of Corpus Callosum 29

Anatomical Context for Corpus Callosum, Agenesis of

MalaCards organs/tissues related to Corpus Callosum, Agenesis of:

41
Brain, Eye, Retina, Skin, Testes, Pituitary, Cortex

Publications for Corpus Callosum, Agenesis of

Articles related to Corpus Callosum, Agenesis of:

(show top 50) (show all 309)
# Title Authors PMID Year
1
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum. 8
26197979 2016
2
Identification of genomic loci contributing to agenesis of the corpus callosum. 8
20683985 2010
3
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. 8
18792984 2008
4
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. 8
9863602 1998
5
Agenesis of corpus callosum in three sibs. 8
9560954 1997
6
Agenesis of the corpus callosum in a mother and son. 8
9056551 1997
7
Absence makes the search grow longer. 8
8554070 1996
8
Delineation of the da-Silva syndrome. 8
8209892 1994
9
Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs. 8
3400727 1988
10
Agenesis of the corpus callosum and macrocephaly in siblings. 8
3905089 1985
11
Familial agenesis of the corpus callosum with hypothermia and apneic spells. 8
6738818 1984
12
Agenesis of the corpus callosum. 8
7387492 1980
13
Agenesis of the corpus callosum in two sisters. 8
4204338 1973
14
Agenesis of the corpus callosum; a report of two cases in siblings. 8
14397896 1955
15
[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing]. 9 38
18808783 2008
16
Genetic malformations of cortical development. 9 38
16724181 2006
17
Neuronal migration disorders, genetics, and epileptogenesis. 9 38
15921228 2005
18
Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects. 38
31273213 2019
19
Intracranial cystic lesions and polydactyly associated with acrocallosal syndrome: Sonographic findings in two cases. 38
31318057 2019
20
Corpus callosum agenesis with interhemispheric cyst: a neuroimage to remember. 38
31345835 2019
21
Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report. 38
31130048 2019
22
Corpus Callosum Agenesis: Neuroanatomical Model of Autism Spectrum Disorder? 38
31142933 2019
23
Accuracy of prenatal ultrasound in the diagnosis of corpus callosum anomalies. 38
31035852 2019
24
Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation. 38
30894326 2019
25
Underdevelopment of the Human Hippocampus in Callosal Agenesis: An In Vivo Fetal MRI Study. 38
30792247 2019
26
Corpus callosum agenesis and clinically isolated syndrome (CIS): A case report. 38
30472413 2019
27
FOXG1 Orchestrates Neocortical Organization and Cortico-Cortical Connections. 38
30392794 2018
28
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis. 38
30244529 2018
29
Chronic Hyponatremia Due to the Syndrome of Inappropriate Antidiuresis (SIAD) in an Adult Woman with Corpus Callosum Agenesis (CCA). 38
30416193 2018
30
Congenital Hydrocephalus, Corpus Callosum Agenesis, and Prosencephalic Cyst with Supernumerary Nostril: A Neurocristopathy. 38
30459905 2018
31
Schizencephaly: A Review of 734 Patients. 38
30501885 2018
32
Transsphenoidal encephalocele, colpocephaly and corpus callosum agenesis in a midline cleft lip and palate patient: A very rare case. 38
30983739 2018
33
The third ventricle of the human fetal brain: Normative data and pathologic correlation. A 3D transvaginal neurosonography study. 38
29858521 2018
34
SCREENING OF PROP-1, LHX2 AND POU1F1 MUTATIONS IN PATIENTS WITH ECTOPIC POSTERIOR PITUITARY GLAND. 38
31149275 2018
35
Early asymmetric inter-hemispheric transfer in the auditory network: insights from infants with corpus callosum agenesis. 38
29687282 2018
36
Anesthetic Management in Corpus Callosum Agenesis. 38
30283190 2018
37
Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription. 38
29648665 2018
38
Is the presence of corpus callosum predictable in the first trimester? 38
29017365 2018
39
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses. 38
29193896 2018
40
Grip and slip of L1-CAM on adhesive substrates direct growth cone haptotaxis. 38
29483251 2018
41
Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome. 38
29356264 2018
42
How does pregnancy affect the patients with pituitary adenomas: a study on 113 pregnancies from Turkey. 38
28634705 2018
43
Cystic Cervical Dysraphism: Experience of 12 Cases. 38
29899770 2018
44
Central nervous system anomalies in craniofacial microsomia: a systematic review. 38
28736116 2018
45
Partial corpus callosal agenesis with ventriculomegaly and sulcal anomaly in a 10-year-old child. 38
29676349 2018
46
Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review. 38
29191162 2017
47
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. 38
29136349 2017
48
Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature. 38
28562508 2017
49
A newborn with monosomy X in association with corpus callosum agenesis. 38
28117231 2017
50
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. 38
28695822 2017

Variations for Corpus Callosum, Agenesis of

ClinVar genetic disease variations for Corpus Callosum, Agenesis of:

6 (show all 30)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ARID1B NM_020732.3(ARID1B): c.1612C> T (p.Gln538Ter) single nucleotide variant Pathogenic rs1057518951 6:157150430-157150430 6:156829296-156829296
2 DCC NM_005215.4(DCC): c.925del (p.Thr309fs) deletion Pathogenic rs1057519053 18:50451680-50451680 18:52925310-52925310
3 DCC NM_005215.4(DCC): c.1790G> C (p.Arg597Pro) single nucleotide variant Pathogenic rs1057519056 18:50734116-50734116 18:53207746-53207746
4 DCC NM_005215.4(DCC): c.2227A> T (p.Met743Leu) single nucleotide variant Pathogenic rs199651452 18:50866145-50866145 18:53339775-53339775
5 DCC NM_005215.4(DCC): c.2260G> A (p.Val754Met) single nucleotide variant Pathogenic rs775565634 18:50866178-50866178 18:53339808-53339808
6 DCC NM_005215.4(DCC): c.2378T> G (p.Val793Gly) single nucleotide variant Pathogenic rs1057519054 18:50912431-50912431 18:53386061-53386061
7 DCC NM_005215.4(DCC): c.2414G> A (p.Gly805Glu) single nucleotide variant Pathogenic rs1057519055 18:50912467-50912467 18:53386097-53386097
8 DCC NM_005215.4(DCC): c.2677G> A (p.Ala893Thr) single nucleotide variant Pathogenic rs1057519057 18:50918246-50918246 18:53391876-53391876
9 MED12 NM_005120.3(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 X:70347217-70347217 X:71127367-71127367
10 DCC NM_005215.4(DCC): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs754914260 18:50450202-50450202 18:52923832-52923832
11 SETD2 NM_014159.6(SETD2): c.5218C> T (p.Arg1740Trp) single nucleotide variant Pathogenic rs1057523157 3:47129662-47129662 3:47088172-47088172
12 ADNP NM_001282531.3(ADNP): c.2188C> T (p.Arg730Ter) single nucleotide variant Pathogenic rs886041116 20:49509063-49509063 20:50892526-50892526
13 BCL11A NM_018014.4(BCL11A): c.295del (p.Val99fs) deletion Pathogenic 2:60773196-60773196 2:60546061-60546061
14 AUTS2 NM_015570.4(AUTS2): c.1600A> C (p.Thr534Pro) single nucleotide variant Likely pathogenic 7:70231231-70231231 7:70766245-70766245
15 FZD3 NM_017412.4(FZD3): c.1616dup (p.Asp539fs) duplication Likely pathogenic 8:28413317-28413317 8:28555800-28555800
16 TUBA1A NM_006009.4(TUBA1A): c.180G> T (p.Lys60Asn) single nucleotide variant Likely pathogenic 12:49580440-49580440 12:49186657-49186657
17 TMLHE NM_018196.4(TMLHE): c.277C> T (p.Arg93Cys) single nucleotide variant Likely pathogenic X:154754198-154754198 X:155524537-155524537
18 KIF4A NM_012310.5(KIF4A): c.794G> T (p.Arg265Leu) single nucleotide variant Likely pathogenic X:69549270-69549270 X:70329420-70329420
19 TUBA1A NM_006009.4(TUBA1A): c.652G> A (p.Asp218Asn) single nucleotide variant Likely pathogenic rs1057517858 12:49579497-49579497 12:49185714-49185714
20 BORCS5 NM_058169.6(BORCS5): c.203-1G> T single nucleotide variant Likely pathogenic rs1555155556 12:12588561-12588561 12:12435627-12435627
21 SLC12A6 NM_005135.2(SLC12A6): c.599dup (p.Ser201fs) duplication Likely pathogenic rs1555380716 15:34547587-34547587 15:34255386-34255386
22 EP300 NM_001429.4(EP300): c.2027G> C (p.Gly676Ala) single nucleotide variant Uncertain significance rs1555908795 22:41537200-41537200 22:41141196-41141196
23 MID1 NM_033290.4(MID1): c.1765A> G (p.Asn589Asp) single nucleotide variant Uncertain significance rs1556001939 X:10417647-10417647 X:10449607-10449607
24 BCOR NM_001123383.1(BCOR): c.4591A> G (p.Thr1531Ala) single nucleotide variant Uncertain significance rs1289349820 X:39914669-39914669 X:40055416-40055416
25 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance
26 C2CD3 NM_001286577.1(C2CD3): c.917T> C (p.Leu306Pro) single nucleotide variant Uncertain significance 11:73849803-73849803 11:74138758-74138758
27 PIK3CA NM_006218.4(PIK3CA): c.742G> A (p.Gly248Ser) single nucleotide variant Uncertain significance rs1553820694 3:178919257-178919257 3:179201469-179201469
28 DYNC1H1 NM_001376.5(DYNC1H1): c.13047_13049GGA[1] (p.Glu4350del) short repeat Uncertain significance rs1555412533 14:102514197-102514199 14:102047860-102047862
29 DCC NM_005215.4(DCC): c.3649A> G (p.Met1217Val) single nucleotide variant no interpretation for the single variant rs1057519058 18:50994293-50994293 18:53467923-53467923
30 DCC NM_005215.4(DCC): c.3748G> A (p.Ala1250Thr) single nucleotide variant no interpretation for the single variant rs748112308 18:51013178-51013178 18:53486808-53486808

Expression for Corpus Callosum, Agenesis of

Search GEO for disease gene expression data for Corpus Callosum, Agenesis of.

Pathways for Corpus Callosum, Agenesis of

GO Terms for Corpus Callosum, Agenesis of

Biological processes related to Corpus Callosum, Agenesis of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.5 DCC ARX ARID1B
2 neuron migration GO:0001764 9.37 DCC ARX
3 neural tube closure GO:0001843 9.26 SETD2 MED12
4 forebrain development GO:0030900 9.16 SETD2 ARX
5 embryonic organ development GO:0048568 8.96 SETD2 MED12
6 negative regulation of dendrite development GO:2000171 8.62 DCC BCL11A

Molecular functions related to Corpus Callosum, Agenesis of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 8.96 MED12 ARX
2 chromatin binding GO:0003682 8.8 MED12 ARX ADNP

Sources for Corpus Callosum, Agenesis of

3 CDC
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18 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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