Congenital Nervous System Abnormality disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CNG031 MIFTS: 40	Congenital Nervous System Abnormality Categories: Immune diseases, Neuronal diseases
Genes Tissues Related diseases Pathways Drugs Expand all tables

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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:

MalaCards categories:
Anatomical: Neuronal diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:2490

ICD9CM ³⁶ 742

UMLS ⁷⁴ C0158538

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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 Oxybutynin and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and skin, and related phenotypes are cellular and growth/size/body region

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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	10.1	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:

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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

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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 335)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Oxybutynin

Approved, Investigational

Phase 4

5633-20-5

4634

Acetylcholine

Approved, Investigational

Phase 4,Phase 2,Phase 3

51-84-3

187

Miconazole

Approved, Investigational, Vet_approved

Phase 4,Phase 2,Phase 3,Phase 1

22916-47-8

4189

Sirolimus

Approved, Investigational

Phase 4,Phase 2,Phase 3,Phase 1

53123-88-9

46835353 5284616 6436030

Everolimus

Approved

Phase 4,Phase 2,Phase 3,Phase 1

159351-69-6

70789204 6442177

Interferon beta-1a

Approved, Investigational

Phase 4,Phase 3,Phase 2

145258-61-3

6438354

Morphine

Approved, Investigational

Phase 4,Phase 2

57-27-2

5288826

Voriconazole

Approved, Investigational

Phase 4

137234-62-9

71616

Carbon monoxide

Approved, Investigational

Phase 4

630-08-0

281

Isoflurane

Approved, Vet_approved

Phase 4

26675-46-7

3763

Sevoflurane

Approved, Vet_approved

Phase 4

28523-86-6

5206

Interferon beta-1b

Approved

Phase 4,Phase 3

145155-23-3

Doxycycline

Approved, Investigational, Vet_approved

Phase 4,Phase 1

564-25-0

54671203

Lidocaine

Approved, Vet_approved

Phase 4,Not Applicable

137-58-6

3676

Vigabatrin

Approved

Phase 4,Phase 2

68506-86-5, 60643-86-9

5665

Triamcinolone

Approved, Vet_approved

Phase 4

124-94-7

31307

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

59-30-3

6037

Botulinum Toxins

Phase 4,Phase 2,Phase 3

Neurotransmitter Agents

Phase 4,Phase 3,Phase 2,Phase 1

Acetylcholine Release Inhibitors

Phase 4,Phase 2,Phase 3

Neuromuscular Agents

Phase 4,Phase 2,Phase 3

Botulinum Toxins, Type A

Phase 4,Phase 2,Phase 3

Peripheral Nervous System Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

abobotulinumtoxinA

Phase 4,Phase 2,Phase 3

Cholinergic Agents

Phase 4,Phase 3,Phase 2

Immunologic Factors

Phase 4,Phase 2,Phase 3,Phase 1

Anti-Infective Agents

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Antifungal Agents

Phase 4,Phase 2,Phase 3,Phase 1

Nutrients

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Trace Elements

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Micronutrients

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Anti-Bacterial Agents

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Antibiotics, Antitubercular

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Immunosuppressive Agents

Phase 4,Phase 2,Phase 3,Phase 1

Anticonvulsants

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Antiviral Agents

Phase 4,Phase 3,Phase 2,Phase 1

interferons

Phase 4,Phase 3,Phase 2,Phase 1

Interferon-beta

Phase 4,Phase 3,Phase 2

Adjuvants, Immunologic

Phase 4,Phase 3,Phase 2

Cytochrome P-450 Enzyme Inhibitors

Phase 4

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Phase 3,Phase 2

Hormones

Phase 4,Phase 3,Phase 2

Steroid Synthesis Inhibitors

Phase 4

Cytochrome P-450 CYP3A Inhibitors

Phase 4

Hormone Antagonists

Phase 4,Phase 3,Phase 2

Antimetabolites

Phase 4,Phase 2,Phase 1,Early Phase 1

Anesthetics

Phase 4,Not Applicable

Protamines

Phase 4

U 78517F

Phase 4

Central Nervous System Depressants

Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 394)

#	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	Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome	Active, not recruiting	NCT03184584	Phase 2, Phase 3	PBI-4050
49	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
50	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

Search NIH Clinical Center for Congenital Nervous System Abnormality

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Genetic Tests for Congenital Nervous System Abnormality

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Anatomical Context for Congenital Nervous System Abnormality

MalaCards organs/tissues related to Congenital Nervous System Abnormality:

⁴²

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

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Publications for Congenital Nervous System Abnormality

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Genes for Congenital Nervous System Abnormality

Genes related to Congenital Nervous System Abnormality (0 elite genes):

(show all 34)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RNU4ATAC	RNA, U4atac Small Nuclear (U12-Dependent Splicing)	RNA Gene	21.29	DISEASES inferred ¹⁵ ¹⁵
2	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	20.77	DISEASES inferred ¹⁵ ¹⁵
3	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	19.65	DISEASES inferred ¹⁵
4	MCPH1	Microcephalin 1	Protein Coding	18.51	DISEASES inferred ¹⁵
5	ZIC2	Zic Family Member 2	Protein Coding	18.31	DISEASES inferred ¹⁵
6	DCX	Doublecortin	Protein Coding	18.23	DISEASES inferred ¹⁵
7	CDK5RAP2	CDK5 Regulatory Subunit Associated Protein 2	Protein Coding	18.17	DISEASES inferred ¹⁵
8	WDR62	WD Repeat Domain 62	Protein Coding	18.15	DISEASES inferred ¹⁵
9	FLNA	Filamin A	Protein Coding	18.12	DISEASES inferred ¹⁵
10	TUBA1A	Tubulin Alpha 1a	Protein Coding	18.06	DISEASES inferred ¹⁵
11	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	17.98	DISEASES inferred ¹⁵
12	SIX3	SIX Homeobox 3	Protein Coding	17.86	DISEASES inferred ¹⁵
13	CENPJ	Centromere Protein J	Protein Coding	17.54	DISEASES inferred ¹⁵
14	ASPM	Abnormal Spindle Microtubule Assembly	Protein Coding	17.34	DISEASES inferred ¹⁵
15	STIL	STIL Centriolar Assembly Protein	Protein Coding	17.28	DISEASES inferred ¹⁵
16	NDE1	NudE Neurodevelopment Protein 1	Protein Coding	17.26	DISEASES inferred ¹⁵
17	ARFGEF2	ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2	Protein Coding	17.21	DISEASES inferred ¹⁵
18	RELN	Reelin	Protein Coding	17.19	DISEASES inferred ¹⁵
19	POMGNT1	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)	Protein Coding	17.18	DISEASES inferred ¹⁵
20	NDEL1	NudE Neurodevelopment Protein 1 Like 1	Protein Coding	7.24	DISEASES inferred ¹⁵
21	CEP152	Centrosomal Protein 152	Protein Coding	7.13	DISEASES inferred ¹⁵
22	FKTN	Fukutin	Protein Coding	7.12	DISEASES inferred ¹⁵
23	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	7.06	DISEASES inferred ¹⁵
24	ARX	Aristaless Related Homeobox	Protein Coding	7.02	DISEASES inferred ¹⁵
25	CNTLN	Centlein	Protein Coding	6.94	DISEASES inferred ¹⁵
26	POMT1	Protein O-Mannosyltransferase 1	Protein Coding	6.89	DISEASES inferred ¹⁵
27	FOXG1	Forkhead Box G1	Protein Coding	6.85	DISEASES inferred ¹⁵
28	NHEJ1	Non-Homologous End Joining Factor 1	Protein Coding	6.83	DISEASES inferred ¹⁵
29	VPS13B	Vacuolar Protein Sorting 13 Homolog B	Protein Coding	6.79	DISEASES inferred ¹⁵
30	RTTN	Rotatin	Protein Coding	6.74	DISEASES inferred ¹⁵
31	PQBP1	Polyglutamine Binding Protein 1	Protein Coding	6.73	DISEASES inferred ¹⁵
32	NBN	Nibrin	Protein Coding	6.69	DISEASES inferred ¹⁵
33	TSEN54	TRNA Splicing Endonuclease Subunit 54	Protein Coding	6.67	DISEASES inferred ¹⁵
34	TGIF1	TGFB Induced Factor Homeobox 1	Protein Coding	6.62	DISEASES inferred ¹⁵

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Variations for Congenital Nervous System Abnormality

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Expression for Congenital Nervous System Abnormality

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

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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	Cell Cycle, Mitotic ⁶⁷ Show member pathways Cell Cycle ⁶⁷ M Phase ⁶⁷	12.86	CDK5RAP2 CENPJ MCPH1 NDE1 NDEL1 PAFAH1B1
2	Organelle biogenesis and maintenance ⁶⁷ Show member pathways Cilium Assembly ⁶⁷	12.08	CDK5RAP2 CENPJ NDE1 PAFAH1B1 TUBA1A
3	Cytoskeletal Signaling ⁴	12.05	DCX FLNA PAFAH1B1 TUBA1A
4	Lissencephaly gene (LIS1) in neuronal migration and development ¹	10.42	DCX NDEL1 PAFAH1B1 RELN

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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

Sources for Congenital Nervous System Abnormality

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia