MCID: CNG031
MIFTS: 40

Congenital Nervous System Abnormality

Categories: Immune diseases, Neuronal diseases

Aliases & Classifications for Congenital Nervous System Abnormality

MalaCards integrated aliases for Congenital Nervous System Abnormality:

Name: Congenital Nervous System Abnormality 12 15
Congenital Neurologic Anomaly 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2490
ICD9CM 36 742
UMLS 74 C0158538

Summaries for Congenital Nervous System Abnormality

MalaCards based summary : Congenital Nervous System Abnormality, also known as congenital neurologic anomaly, is related to holoprosencephaly and lissencephaly. An important gene associated with Congenital Nervous System Abnormality is RNU4ATAC (RNA, U4atac Small Nuclear (U12-Dependent Splicing)), and among its related pathways/superpathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. The drugs Acetylcholine and Oxybutynin have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and bone, and related phenotypes are cellular and growth/size/body region

Related Diseases for Congenital Nervous System Abnormality

Diseases in the Nervous System Disease family:

Autoimmune Disease of Central Nervous System Congenital Nervous System Abnormality
Central Nervous System Disease

Diseases related to Congenital Nervous System Abnormality via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 31.9 SHH SIX3 STIL ZIC2
2 lissencephaly 31.6 DCX NDE1 NDEL1 PAFAH1B1 RELN TUBA1A
3 periventricular nodular heterotopia 31.5 ARFGEF2 DCX FLNA PAFAH1B1 RELN SIX3
4 corpus callosum, agenesis of, with abnormal genitalia 11.2
5 drachtman weinblatt sitarz syndrome 11.2
6 anencephaly 11.0
7 chromosome 17p13.3, centromeric, duplication syndrome 10.6 DCX PAFAH1B1
8 pachygyria 10.4 PAFAH1B1 TUBA1A
9 acquired schizencephaly 10.4 SHH SIX3
10 microcephaly 13, primary, autosomal recessive 10.4 MCPH1 WDR62
11 septopreoptic holoprosencephaly 10.4 SHH SIX3 ZIC2
12 midline interhemispheric variant of holoprosencephaly 10.4 SHH SIX3 ZIC2
13 microcephaly 3, primary, autosomal recessive 10.4 CDK5RAP2 CENPJ MCPH1
14 alobar holoprosencephaly 10.4 SHH SIX3 ZIC2
15 lissencephaly with cerebellar hypoplasia 10.4 DCX PAFAH1B1 RELN
16 cerebellar hypoplasia 10.4 DCX PAFAH1B1 RELN
17 microform holoprosencephaly 10.4 SHH SIX3 ZIC2
18 lissencephaly 1 10.4 DCX PAFAH1B1 RELN
19 chromosome 18p deletion syndrome 10.4 SHH SIX3 ZIC2
20 microcephalic osteodysplastic primordial dwarfism, type i 10.4 NDE1 RNU4ATAC
21 semilobar holoprosencephaly 10.4 SHH SIX3 ZIC2
22 lissencephaly, x-linked, 1 10.4 DCX PAFAH1B1
23 microlissencephaly 10.4 NDE1 TUBA1A
24 seckel syndrome 10.4 CENPJ MCPH1 RNU4ATAC
25 microcephalic osteodysplastic primordial dwarfism, type ii 10.4 CDK5RAP2 CENPJ
26 lissencephaly 2 10.4 NDE1 RELN
27 schizencephaly 10.3 SHH SIX3 WDR62
28 hydranencephaly 10.3 NDE1 SIX3 TUBA1A
29 miller-dieker lissencephaly syndrome 10.3 NDEL1 PAFAH1B1 TUBA1A
30 microcephaly 6, primary, autosomal recessive 10.3 CDK5RAP2 CENPJ MCPH1 STIL
31 microcephaly 4, primary, autosomal recessive 10.3 CDK5RAP2 CENPJ MCPH1 STIL
32 lobar holoprosencephaly 10.3 SHH SIX3 STIL ZIC2
33 pseudobulbar palsy 10.3 ARFGEF2 SIX3
34 microcephaly 17, primary, autosomal recessive 10.2 CDK5RAP2 CENPJ MCPH1 STIL WDR62
35 microcephaly 12, primary, autosomal recessive 10.2 CDK5RAP2 CENPJ MCPH1 STIL WDR62
36 microcephaly 18, primary, autosomal dominant 10.2 CDK5RAP2 CENPJ MCPH1 STIL WDR62
37 holoprosencephaly 4 10.2 SHH ZIC2
38 west syndrome 10.2 ARFGEF2 FLNA PAFAH1B1
39 band heterotopia 10.1 DCX FLNA PAFAH1B1 RELN SIX3 TUBA1A
40 microcephaly 5, primary, autosomal recessive 10.1 ASPM CDK5RAP2 CENPJ MCPH1 STIL WDR62
41 primary autosomal recessive microcephaly 10.1 ASPM CDK5RAP2 CENPJ MCPH1 STIL WDR62
42 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.1 CDK5RAP2 CENPJ MCPH1 NDE1 STIL WDR62
43 primary microcephaly 10.1 ASPM CDK5RAP2 CENPJ MCPH1 STIL WDR62
44 neuronal migration disorders 10.1 ARFGEF2 DCX FLNA PAFAH1B1 RELN WDR62
45 patau syndrome 10.1 SIX3 ZIC2
46 microcephaly 7, primary, autosomal recessive 10.0 CDK5RAP2 CENPJ MCPH1 NDE1 SHH STIL
47 microcephaly 9.6 ARFGEF2 ASPM CDK5RAP2 CENPJ ERCC6 MCPH1
48 physical disorder 9.5 CDK5RAP2 CENPJ DCX FLNA MCPH1 NDE1

Graphical network of the top 20 diseases related to Congenital Nervous System Abnormality:



Diseases related to Congenital Nervous System Abnormality

Symptoms & Phenotypes for Congenital Nervous System Abnormality

MGI Mouse Phenotypes related to Congenital Nervous System Abnormality:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.39 ARFGEF2 ASPM CDK5RAP2 CENPJ ERCC6 FLNA
2 growth/size/body region MP:0005378 10.3 ARFGEF2 ASPM CDK5RAP2 CENPJ DCX ERCC6
3 nervous system MP:0003631 10.23 ARFGEF2 ASPM CDK5RAP2 CENPJ DCX ERCC6
4 behavior/neurological MP:0005386 10.22 CENPJ DCX ERCC6 FLNA MCPH1 PAFAH1B1
5 mortality/aging MP:0010768 10.2 ARFGEF2 CDK5RAP2 CENPJ DCX ERCC6 FLNA
6 embryo MP:0005380 10.01 CENPJ NDE1 NDEL1 PAFAH1B1 SHH SIX3
7 craniofacial MP:0005382 9.98 CDK5RAP2 CENPJ FLNA POMGNT1 SHH SIX3
8 reproductive system MP:0005389 9.9 ASPM CDK5RAP2 CENPJ DCX FLNA MCPH1
9 skeleton MP:0005390 9.56 CDK5RAP2 CENPJ ERCC6 FLNA MCPH1 SHH
10 vision/eye MP:0005391 9.32 CDK5RAP2 CENPJ ERCC6 FLNA MCPH1 POMGNT1

Drugs & Therapeutics for Congenital Nervous System Abnormality

Drugs for Congenital Nervous System Abnormality (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 328)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4,Phase 2,Phase 3 51-84-3 187
2
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
3
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
4
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 6442177 70789204
5
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 46835353 6436030 5284616
6
Morphine Approved, Investigational Phase 4,Phase 2 57-27-2 5288826
7
Interferon beta-1a Approved, Investigational Phase 4,Phase 3,Phase 2 145258-61-3 6438354
8
Voriconazole Approved, Investigational Phase 4 137234-62-9 71616
9
Carbon monoxide Approved, Investigational Phase 4 630-08-0 281
10
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
11
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
12
Interferon beta-1b Approved Phase 4,Phase 3 145155-23-3
13
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 1 564-25-0 54671203
14
Lidocaine Approved, Vet_approved Phase 4,Not Applicable 137-58-6 3676
15
Vigabatrin Approved Phase 4,Phase 2 68506-86-5, 60643-86-9 5665
16
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 59-30-3 6037
18 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 abobotulinumtoxinA Phase 4,Phase 2,Phase 3
20 Botulinum Toxins Phase 4,Phase 2,Phase 3
21 Neuromuscular Agents Phase 4,Phase 2,Phase 3
22 Acetylcholine Release Inhibitors Phase 4,Phase 2,Phase 3
23 Cholinergic Agents Phase 4,Phase 3,Phase 2
24 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Botulinum Toxins, Type A Phase 4,Phase 2,Phase 3
26 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
27 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
28 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1
29 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Nutrients Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
32 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
33 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
34 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Adjuvants, Immunologic Phase 4,Phase 3,Phase 2
37 Interferon-beta Phase 4,Phase 3,Phase 2
38 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
39 interferons Phase 4,Phase 3,Phase 2,Phase 1
40 Cytochrome P-450 Enzyme Inhibitors Phase 4
41 Cytochrome P-450 CYP3A Inhibitors Phase 4
42 Hormones Phase 4,Phase 3,Phase 2
43 Steroid Synthesis Inhibitors Phase 4
44 Hormone Antagonists Phase 4,Phase 3,Phase 2
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
46 Antimetabolites Phase 4,Phase 2,Phase 1,Early Phase 1
47 Protamines Phase 4
48 Anesthetics Phase 4,Not Applicable
49 Anesthetics, Inhalation Phase 4
50 Central Nervous System Depressants Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 387)
# Name Status NCT ID Phase Drugs
1 Effect of Botulinum Toxin in Neurogenic Bladders in Children With Myelomeningocele Unknown status NCT00175123 Phase 4 Botulinum A toxin
2 Effectiveness of Rebif® in Clinically Isolated Syndrome and Relapsing Multiple Sclerosis Using RebiSmart™ Completed NCT02254304 Phase 4 Rebif
3 A Trial Comparing Efficacy and Safety of Voriconazole Administered With Therapeutic Drug Monitoring vs. Standard Dosing Completed NCT01416025 Phase 4 Prospective TDM Arm
4 One vs. Three Hyperbaric Oxygen Treatments for Acute Carbon Monoxide Poisoning Completed NCT00465855 Phase 4
5 Randomized Isoflurane and Sevoflurane Comparison in Cardiac Surgery Completed NCT01477151 Phase 4 Volatile anesthetic
6 Follow-up Study After 11 Years of Patients Who Were Included in the BENEFIT Trial (304747) With a First Demyelinating Event Suggestive of Multiple Sclerosis Completed NCT01795872 Phase 4
7 Postoperative Alpha Lipoic Acid in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
8 Rapamycin In Angiomyolipomas In Patients With Tuberous Sclerosis Completed NCT01217125 Phase 4 Sirolimus
9 Doxycycline In Lymphangioleiomyomatosis (LAM) Completed NCT00989742 Phase 4 Doxycycline;Placebo
10 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
11 Safety and Efficacy of Everolimus (Afinitor®) in Chinese Adult Patients With Angiomyolipoma Associated With Tuberous Sclerosis Complex. Recruiting NCT03525834 Phase 4 everolimus
12 Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients Terminated NCT01266291 Phase 4 vigabatrin
13 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
14 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
15 Functional Magnetic Resonance Imagine(fMRI)Navigation in Intracranial Arteriovenous Malformation Surgery Unknown status NCT01758211 Phase 3
16 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
17 Phase III Study With Teriflunomide Versus Placebo in Patients With First Clinical Symptom of Multiple Sclerosis Completed NCT00622700 Phase 3 Teriflunomide;Placebo
18 Efficacy and Safety of Fingolimod in Patients With Relapsing-remitting Multiple Sclerosis With Optional Extension Phase Completed NCT00340834 Phase 3 Fingolimod 1.25 mg;Fingolimod 0.5 mg;Interferon β-1a 30 µg
19 Efficacy and Safety of Fingolimod (FTY720) in Patients With Relapsing-remitting Multiple Sclerosis Completed NCT00355134 Phase 3 Fingolimod;Placebo
20 Clinical Trial Comparing Treatment of Relapsing-Remitting Multiple Sclerosis (RR-MS) With Two Doses of Glatiramer Acetate (GA). Completed NCT00337779 Phase 3 Glatiramer Acetate (GA) 40 mg;glatiramer acetate 20 mg
21 Efficacy and Safety of Fingolimod in Patients With Relapsing-remitting Multiple Sclerosis Completed NCT00289978 Phase 3 Fingolimod 1.25 mg;Fingolimod 0.5 mg;Placebo
22 A Study in Subjects With Relapsing-Remitting Multiple Sclerosis (RRMS) to Assess the Efficacy, Safety and Tolerability of Glatiramer Acetate (GA) Injection 40 mg Administered Three Times a Week Compared to Placebo Completed NCT01067521 Phase 3 Glatiramer acetate (GA);Placebo
23 Long-term Efficacy and Safety of Fingolimod (FTY720) in Patients With Relapsing-remitting Multiple Sclerosis Completed NCT00662649 Phase 3 Fingolimod 0.5 mg;Fingolimod 1.25 mg
24 Efficacy and Safety Study for an Oral Contraceptive Containing Folate Completed NCT00468481 Phase 3 Drospirenone/Ethinylestradiol/Methyltetrahydrofolate;Drospirenone/Ethinylestradiol (Yaz)
25 Duragen Versus Duraguard in Chiari Surgery Completed NCT00741858 Phase 3
26 The Efficacy, Safety, and Tolerability of Laquinimod in Participants With Relapsing Remitting Multiple Sclerosis (RRMS) Completed NCT01707992 Phase 3 Laquinimod;Placebo
27 Open Label Study to Evaluate Effect, Safety and Tolerability of Betaferon Standard Dose of 250µg in Patients of Chinese Origin With Multiple Sclerosis Completed NCT00370071 Phase 3 Interferon beta-1b (Betaseron, BAY86-5046)
28 BENEFIT Study (Betaferon® / Betaseron® in Newly Emerging Multiple Sclerosis for Initial Treatment) and BENEFIT Follow-up Study Completed NCT00185211 Phase 3 Interferon beta-1b (Betaseron, BAY86-5046);Interferon beta-1b (Betaseron, BAY86-5046)
29 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
30 The Effects Of Bronchodilator Therapy On Respiratory And Autonomic Function In Patients With Familial Dysautonomia Completed NCT01987219 Phase 3 Albuterol-sulphate;Ipratropium-bromide
31 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
32 Botulinum Toxin A Injections in Patients With Fowler's Syndrome Completed NCT02428881 Phase 2, Phase 3 onabotulinumtoxinA
33 Topical Rapamycin and Calcitriol for Angiofibroma of Tuberous Sclerosis Completed NCT03140449 Phase 3 Rapamycin;Calcitriol;Rapamycin-calcitriol combination
34 Phase III Trial of Topical Formulation of Sirolimus to Skin Lesions in Patients With Tuberous Sclerosis Complex (TSC) Completed NCT02635789 Phase 3 NPC-12G gel;Placebo gel
35 Long-term Trial of Topical Sirolimus to Angiofibroma in Patient With Tuberous Sclerosis Complex Completed NCT02634931 Phase 3 NPC-12G gel
36 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
37 Validation of Macimorelin as a Test for Adult Growth Hormone Deficiency Completed NCT02558829 Phase 3 Macimorelin;Insulin
38 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
39 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3 Carbidopa;Placebo
40 A Placebo-controlled Study of Efficacy & Safety of 2 Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Partial-onset Seizures Completed NCT01713946 Phase 3 RAD001;Placebo;Antiepileptic drug (1 to 3 only);open label RAD001 (only used for post-extension phase)
41 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
42 Efficacy and Safety of Everolimus (RAD001) in Patients of All Ages With Subependymal Giant Cell Astrocytoma Associated With Tuberous Sclerosis Complex (TSC)(EXIST-1) Completed NCT00789828 Phase 3 Everolimus;Placebo
43 A Randomized Trial of Unruptured Brain AVMs Completed NCT00389181 Phase 3
44 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
45 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
46 Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
47 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
48 Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued Treatment Active, not recruiting NCT02962414 Phase 3 everolimus
49 A Randomized Controlled Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Active, not recruiting NCT02544763 Phase 3 GWP42003-P;Placebo
50 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Enrolling by invitation NCT03184584 Phase 2, Phase 3 PBI-4050

Search NIH Clinical Center for Congenital Nervous System Abnormality

Genetic Tests for Congenital Nervous System Abnormality

Anatomical Context for Congenital Nervous System Abnormality

MalaCards organs/tissues related to Congenital Nervous System Abnormality:

42
Brain, Skin, Bone, Testes, Spinal Cord, Heart, Bone Marrow

Publications for Congenital Nervous System Abnormality

Variations for Congenital Nervous System Abnormality

Expression for Congenital Nervous System Abnormality

Search GEO for disease gene expression data for Congenital Nervous System Abnormality.

Pathways for Congenital Nervous System Abnormality

Pathways related to Congenital Nervous System Abnormality according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 CDK5RAP2 CENPJ MCPH1 NDE1 NDEL1 PAFAH1B1
2
Show member pathways
12.08 CDK5RAP2 CENPJ NDE1 PAFAH1B1 TUBA1A
3 12.05 DCX FLNA PAFAH1B1 TUBA1A
4 10.42 DCX NDEL1 PAFAH1B1 RELN

GO Terms for Congenital Nervous System Abnormality

Cellular components related to Congenital Nervous System Abnormality according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.86 ASPM CDK5RAP2 CENPJ NDE1 NDEL1 PAFAH1B1
2 spindle GO:0005819 9.76 ASPM NDE1 NDEL1 PAFAH1B1
3 microtubule organizing center GO:0005815 9.76 ARFGEF2 CDK5RAP2 CENPJ MCPH1 NDE1 NDEL1
4 centriole GO:0005814 9.69 CENPJ STIL WDR62
5 kinetochore GO:0000776 9.67 NDE1 NDEL1 PAFAH1B1
6 kinesin complex GO:0005871 9.61 NDE1 NDEL1 PAFAH1B1
7 microtubule GO:0005874 9.56 ASPM CDK5RAP2 CENPJ DCX NDE1 NDEL1
8 microtubule associated complex GO:0005875 9.5 DCX NDEL1 PAFAH1B1
9 cytoskeleton GO:0005856 9.44 ARFGEF2 ASPM CDK5RAP2 CENPJ DCX FLNA
10 central region of growth cone GO:0090724 9.37 NDEL1 PAFAH1B1
11 cytoplasm GO:0005737 10.28 ARFGEF2 ASPM CDK5RAP2 CENPJ DCX FLNA
12 cytosol GO:0005829 10.26 ARFGEF2 CDK5RAP2 CENPJ DCX FLNA NDE1

Biological processes related to Congenital Nervous System Abnormality according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.94 NDE1 NDEL1 PAFAH1B1 RELN
2 microtubule cytoskeleton organization GO:0000226 9.88 CDK5RAP2 NDEL1 PAFAH1B1 TUBA1A
3 central nervous system development GO:0007417 9.85 DCX RELN SHH
4 forebrain development GO:0030900 9.84 NDE1 RELN SHH STIL
5 chromosome segregation GO:0007059 9.83 CDK5RAP2 NDE1 NDEL1
6 G2/M transition of mitotic cell cycle GO:0000086 9.83 CDK5RAP2 CENPJ NDE1 PAFAH1B1 TUBA1A
7 hippocampus development GO:0021766 9.82 DCX PAFAH1B1 RELN
8 smoothened signaling pathway GO:0007224 9.82 CENPJ SHH STIL
9 negative regulation of neuron differentiation GO:0045665 9.81 ASPM CDK5RAP2 SIX3
10 ciliary basal body-plasma membrane docking GO:0097711 9.8 CDK5RAP2 CENPJ NDE1 PAFAH1B1 TUBA1A
11 brain development GO:0007420 9.8 ASPM CDK5RAP2 DCX PAFAH1B1 RELN SIX3
12 microtubule nucleation GO:0007020 9.74 CENPJ NDE1 NDEL1
13 neuroblast proliferation GO:0007405 9.73 NDE1 PAFAH1B1 SHH
14 centriole replication GO:0007099 9.72 CDK5RAP2 CENPJ WDR62
15 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.72 CDK5RAP2 CENPJ NDE1 PAFAH1B1 TUBA1A
16 centrosome duplication GO:0051298 9.7 CENPJ NDE1 STIL
17 vesicle transport along microtubule GO:0047496 9.69 NDE1 NDEL1 PAFAH1B1
18 neuronal stem cell population maintenance GO:0097150 9.68 ASPM MCPH1
19 positive regulation of neuroblast proliferation GO:0002052 9.67 ASPM SHH
20 positive regulation of dendritic spine morphogenesis GO:0061003 9.67 PAFAH1B1 RELN
21 layer formation in cerebral cortex GO:0021819 9.67 DCX PAFAH1B1 RELN
22 protein localization to centrosome GO:0071539 9.66 MCPH1 STIL
23 centrosome localization GO:0051642 9.66 NDE1 NDEL1
24 retrograde axonal transport GO:0008090 9.65 NDEL1 PAFAH1B1
25 telencephalon regionalization GO:0021978 9.63 SHH SIX3
26 microtubule organizing center organization GO:0031023 9.63 CDK5RAP2 NDE1 PAFAH1B1
27 neuron migration GO:0001764 9.63 ASPM DCX NDE1 NDEL1 PAFAH1B1 RELN
28 maintenance of centrosome location GO:0051661 9.62 ASPM PAFAH1B1
29 mitotic centrosome separation GO:0007100 9.61 NDE1 NDEL1
30 regulation of centriole replication GO:0046599 9.61 CENPJ STIL
31 nuclear envelope disassembly GO:0051081 9.6 NDEL1 PAFAH1B1
32 establishment of chromosome localization GO:0051303 9.58 NDE1 NDEL1
33 regulation of microtubule motor activity GO:2000574 9.54 NDE1 NDEL1 PAFAH1B1
34 establishment of mitotic spindle orientation GO:0000132 9.35 CDK5RAP2 MCPH1 NDE1 NDEL1 PAFAH1B1
35 cerebral cortex development GO:0021987 9.17 ASPM FLNA MCPH1 NDE1 PAFAH1B1 RELN
36 multicellular organism development GO:0007275 10.13 DCX NDE1 NDEL1 PAFAH1B1 RELN SHH
37 nervous system development GO:0007399 10.07 DCX NDE1 NDEL1 PAFAH1B1 WDR62 ZIC2
38 cell division GO:0051301 10.02 ASPM CENPJ NDE1 PAFAH1B1 TUBA1A

Molecular functions related to Congenital Nervous System Abnormality according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.26 ERCC6 FLNA NDEL1 PAFAH1B1
2 microtubule binding GO:0008017 9.02 CDK5RAP2 DCX NDE1 NDEL1 PAFAH1B1
3 protein binding GO:0005515 10.06 ARFGEF2 CDK5RAP2 CENPJ DCX ERCC6 FLNA

Sources for Congenital Nervous System Abnormality

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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35 ICD10 via Orphanet
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46 MESH via Orphanet
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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