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

MCID: CNG031 MIFTS: 32	Congenital Nervous System Abnormality Categories: Blood diseases, Immune diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Congenital Nervous System Abnormality

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MalaCards integrated aliases for Congenital Nervous System Abnormality:

Name: Congenital Nervous System Abnormality ¹¹ ¹⁴

Congenital Nervous System Disorder ⁵

Congenital Neurologic Anomaly ¹¹

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Immune diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:2490

ICD9CM ³⁴ 742

SNOMED-CT ⁶⁸ 204018008

UMLS ⁷¹ C0158538

Summaries for Congenital Nervous System Abnormality

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MalaCards based summary: Congenital Nervous System Abnormality, also known as congenital nervous system disorder, is related to microcephaly and lissencephaly. An important gene associated with Congenital Nervous System Abnormality is PNKP (Polynucleotide Kinase 3'-Phosphatase), and among its related pathways/superpathways is Lissencephaly gene (LIS1) in neuronal migration and development. Related phenotypes are nervous system and growth/size/body region

Related Diseases for Congenital Nervous System Abnormality

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Diseases in the Nervous System Disease family:

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

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

(show top 50) (show all 65)

#	Related Disease	Score	Top Affiliating Genes
1	microcephaly	34.1	ZIC2 WDR62 VPS13B TSEN54 TRAPPC9 RNASEH2B
2	lissencephaly	33.4	WDR62 VLDLR POMT1 POMGNT1 FOXG1 EXOSC3
3	periventricular nodular heterotopia	33.3	WDR62 VLDLR POMT1 POMGNT1 FOXG1 DCX
4	band heterotopia	33.1	WDR62 VLDLR POMGNT1 DCX ASPM
5	nervous system disease	12.0	ZIC2 WDR62 VPS13B VLDLR TSEN54 TRAPPC9
6	anencephaly	11.2
7	tubulinopathy	11.2
8	holoprosencephaly	11.2
9	pontocerebellar hypoplasia	11.0	WDR62 VLDLR TSEN54 POMT1 POMGNT1 EXOSC3
10	miller-dieker lissencephaly syndrome	10.9	WDR62 VLDLR FOXG1 DCX ASPM
11	physical disorder	10.9	ZIC2 WDR62 POMT1 POMGNT1 ASPM
12	walker-warburg syndrome	10.9	WDR62 TSEN54 SRD5A3 POMT1 POMGNT1
13	hypotonia	10.9	VPS13B NALCN MECP2 FOXG1 EXOSC3
14	lissencephaly 2	10.8	WDR62 VLDLR POMT1 POMGNT1
15	primary microcephaly	10.8	WDR62 PNKP FOXG1 ASPM
16	primary autosomal recessive microcephaly	10.8	WDR62 TRAPPC9 PNKP ASPM
17	strabismus	10.8	VLDLR NALCN MECP2 FOXG1
18	peho syndrome	10.8	TSEN54 MECP2 FOXG1
19	glaucoma 3, primary congenital, a	10.8	SRD5A3 POMT1 POMGNT1
20	fetal akinesia deformation sequence 1	10.8	NALCN EXOSC3 ASPM
21	seckel syndrome	10.7	WDR62 PNKP ASPM
22	congenital muscular dystrophy with cerebellar involvement	10.7	POMT1 POMGNT1
23	congenital muscular dystrophy-dystroglycanopathy type a1	10.7	POMT1 POMGNT1
24	muscular dystrophy-dystroglycanopathy	10.7	POMT1 POMGNT1
25	gait apraxia	10.7	MECP2 FOXG1
26	cerebellar disease	10.7	VLDLR PNKP EXOSC3
27	non-syndromic pontocerebellar hypoplasia	10.7	TSEN54 EXOSC3
28	motor stereotypies	10.7	MECP2 FOXG1
29	neuronal migration disorders	10.7	WDR62 VPS13B
30	congenital muscular dystrophy-dystroglycanopathy type a3	10.7	POMT1 POMGNT1
31	retinitis pigmentosa 83	10.7	VPS13B POMGNT1
32	microcephaly 17, primary, autosomal recessive	10.7	WDR62 ASPM
33	muscular dystrophy-dystroglycanopathy , type c, 2	10.7	POMT1 POMGNT1
34	cardiomyopathy, dilated, 1d	10.7	POMT1 POMGNT1
35	pontocerebellar hypoplasia, type 1c	10.7	TSEN54 EXOSC3
36	microcephaly 9, primary, autosomal recessive	10.7	WDR62 ASPM
37	cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	10.7	TSEN54 PLA2G6
38	microcephaly, autosomal dominant	10.7	WDR62 ASPM
39	cobblestone lissencephaly	10.7	POMT1 POMGNT1
40	microcephaly 13, primary, autosomal recessive	10.7	WDR62 ASPM
41	nescav syndrome	10.7	MECP2 FOXG1
42	seckel syndrome 5	10.6	TRAPPC9 EXOSC3
43	muscular dystrophy-dystroglycanopathy , type c, 1	10.6	POMT1 POMGNT1
44	muscular dystrophy-dystroglycanopathy , type b, 6	10.6	POMT1 POMGNT1
45	congenital disorder of glycosylation, type in	10.6	SRD5A3 POMT1 POMGNT1
46	ablepharon-macrostomia syndrome	10.6	POMT1 POMGNT1
47	autosomal recessive limb-girdle muscular dystrophy type 2l	10.6	POMT1 POMGNT1
48	pontocerebellar hypoplasia, type 1d	10.6	TSEN54 EXOSC3
49	polymicrogyria	10.6	WDR62 POMT1 POMGNT1
50	anterior horn cell disease	10.6	TSEN54 EXOSC3

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

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MGI Mouse Phenotypes related to Congenital Nervous System Abnormality:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.39	AP4B1 ASPM CLN6 DCX FOXG1 MECP2
2	growth/size/body region	MP:0005378	10.33	ASPM CLN6 DCX EXOSC3 FOXG1 MECP2
3	homeostasis/metabolism	MP:0005376	10.28	ASPM DCX EXOSC3 FOXG1 MECP2 NALCN
4	cellular	MP:0005384	10.15	ASPM FOXG1 MECP2 PLA2G6 PNKP POMGNT1
5	cardiovascular system	MP:0005385	10.13	CLN6 EXOSC3 FOXG1 MECP2 PNKP POMGNT1
6	behavior/neurological	MP:0005386	10.1	AP4B1 CLN6 DCX FOXG1 MECP2 NALCN
7	immune system	MP:0005387	9.9	FOXG1 MECP2 NALCN PLA2G6 POMT1 RNASEH2B
8	vision/eye	MP:0005391	9.65	CLN6 FOXG1 MECP2 PLA2G6 POMGNT1 POMT1
9	mortality/aging	MP:0010768	9.53	CLN6 DCX EXOSC3 FOXG1 MECP2 NALCN

Drugs & Therapeutics for Congenital Nervous System Abnormality

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Search Clinical Trials, NIH Clinical Center for Congenital Nervous System Abnormality

Genetic Tests for Congenital Nervous System Abnormality

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Anatomical Context for Congenital Nervous System Abnormality

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Publications for Congenital Nervous System Abnormality

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Articles related to Congenital Nervous System Abnormality:

#	Title	Authors	PMID	Year
1	Whole-genome sequencing of patients with rare diseases in a national health system. ⁵	Turro E...Ouwehand WH	32581362	2020
2	Network science in Egyptology. ⁶²	Coulombe P...Appenzeller O	23185613	2012

Genes for Congenital Nervous System Abnormality

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Genes related to Congenital Nervous System Abnormality (50 elite genes):

(show top 50) (show all 579)

- Elite gene

About elite gene

- Cancer Census gene in COSMIC

About Cancer Census gene

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PNKP	Polynucleotide Kinase 3'-Phosphatase	Protein Coding	432.04	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
2	POMGNT1	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)	Protein Coding	432.02	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
3	VPS13B	Vacuolar Protein Sorting 13 Homolog B	Protein Coding	431.73	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
4	TRAPPC9	Trafficking Protein Particle Complex Subunit 9	Protein Coding	431.44	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
5	SRD5A3	Steroid 5 Alpha-Reductase 3	Protein Coding	430.02	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
6	NALCN	Sodium Leak Channel, Non-Selective	Protein Coding	429.74	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
7	CLN6	CLN6 Transmembrane ER Protein	Protein Coding	429.6	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
8	PLA2G6	Phospholipase A2 Group VI	Protein Coding	429.33	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
9	ASPM	Assembly Factor For Spindle Microtubules	Protein Coding	408.66	Pathogenic ⁵ DISEASES inferred ¹⁴
10	WDR62	WD Repeat Domain 62	Protein Coding	408.39	Pathogenic ⁵ DISEASES inferred ¹⁴
11	ZIC2	Zic Family Member 2	Protein Coding	407.88	Pathogenic ⁵ DISEASES inferred ¹⁴
12	DCX	Doublecortin	Protein Coding	407.88	Pathogenic ⁵ DISEASES inferred ¹⁴
13	FOXG1	Forkhead Box G1	Protein Coding	407.67	Pathogenic ⁵ DISEASES inferred ¹⁴
14	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	407.59	Pathogenic ⁵ DISEASES inferred ¹⁴
15	POMT1	Protein O-Mannosyltransferase 1	Protein Coding	407.05	Pathogenic ⁵ DISEASES inferred ¹⁴
16	TSEN54	TRNA Splicing Endonuclease Subunit 54	Protein Coding	406.85	Pathogenic ⁵ DISEASES inferred ¹⁴
17	VLDLR	Very Low Density Lipoprotein Receptor	Protein Coding	406.68	Pathogenic ⁵ DISEASES inferred ¹⁴
18	RNASEH2B	Ribonuclease H2 Subunit B	Protein Coding	406.2	Pathogenic ⁵ DISEASES inferred ¹⁴
19	AP4B1	Adaptor Related Protein Complex 4 Subunit Beta 1	Protein Coding	406.06	Pathogenic ⁵ DISEASES inferred ¹⁴
20	EXOSC3	Exosome Component 3	Protein Coding	406.02	Pathogenic ⁵ DISEASES inferred ¹⁴
21	AP4M1	Adaptor Related Protein Complex 4 Subunit Mu 1	Protein Coding	405.96	Pathogenic ⁵ DISEASES inferred ¹⁴
22	RNASEH2C	Ribonuclease H2 Subunit C	Protein Coding	405.81	Pathogenic ⁵ DISEASES inferred ¹⁴
23	CREBBP	CREB Binding Protein	Protein Coding	405.77	Pathogenic ⁵ DISEASES inferred ¹⁴
24	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	405.72	Pathogenic ⁵ DISEASES inferred ¹⁴
25	TSC2	TSC Complex Subunit 2	Protein Coding	405.72	Pathogenic ⁵ DISEASES inferred ¹⁴
26	PTEN	Phosphatase And Tensin Homolog	Protein Coding	405.7	Pathogenic ⁵ DISEASES inferred ¹⁴
27	ZEB2	Zinc Finger E-Box Binding Homeobox 2	Protein Coding	405.68	Pathogenic ⁵ DISEASES inferred ¹⁴
28	CEP290	Centrosomal Protein 290	Protein Coding	405.53	Pathogenic ⁵ DISEASES inferred ¹⁴
29	TMEM67	Transmembrane Protein 67	Protein Coding	405.47	Pathogenic ⁵ DISEASES inferred ¹⁴
30	KMT2D	Lysine Methyltransferase 2D	Protein Coding	405.46	Pathogenic ⁵ DISEASES inferred ¹⁴
31	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	405.14	Pathogenic ⁵ DISEASES inferred ¹⁴
32	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	405.12	Pathogenic ⁵ DISEASES inferred ¹⁴
33	AMPD2	Adenosine Monophosphate Deaminase 2	Protein Coding	405.06	Pathogenic ⁵ DISEASES inferred ¹⁴
34	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	405	Pathogenic ⁵ DISEASES inferred ¹⁴
35	GNAO1	G Protein Subunit Alpha O1	Protein Coding	404.98	Pathogenic ⁵ DISEASES inferred ¹⁴
36	PSEN1	Presenilin 1	Protein Coding	404.71	Pathogenic ⁵ DISEASES inferred ¹⁴
37	GAMT	Guanidinoacetate N-Methyltransferase	Protein Coding	404.51	Pathogenic ⁵ DISEASES inferred ¹⁴
38	SETBP1	SET Binding Protein 1	Protein Coding	404.45	Pathogenic ⁵ DISEASES inferred ¹⁴
39	TPP1	Tripeptidyl Peptidase 1	Protein Coding	404.34	Pathogenic ⁵ DISEASES inferred ¹⁴
40	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	404.24	Pathogenic ⁵ DISEASES inferred ¹⁴
41	GALC	Galactosylceramidase	Protein Coding	404.13	Pathogenic ⁵ DISEASES inferred ¹⁴
42	ARSA	Arylsulfatase A	Protein Coding	403.92	Pathogenic ⁵ DISEASES inferred ¹⁴
43	TBCK	TBC1 Domain Containing Kinase	Protein Coding	403.68	Pathogenic ⁵ DISEASES inferred ¹⁴
44	CPT2	Carnitine Palmitoyltransferase 2	Protein Coding	403.55	Pathogenic ⁵ DISEASES inferred ¹⁴
45	MICU1	Mitochondrial Calcium Uptake 1	Protein Coding	403.37	Pathogenic ⁵ DISEASES inferred ¹⁴
46	KCNV2	Potassium Voltage-Gated Channel Modifier Subfamily V Member 2	Protein Coding	402.93	Pathogenic ⁵ DISEASES inferred ¹⁴
47	AP4B1-AS1	AP4B1 Antisense RNA 1	RNA Gene	400	Pathogenic ⁵
48	FUCA1	Alpha-L-Fucosidase 1	Protein Coding	400	Pathogenic ⁵
49	HFE	Homeostatic Iron Regulator	Protein Coding	400	Pathogenic ⁵
50	MLC1	Modulator Of VRAC Current 1	Protein Coding	400	Pathogenic ⁵

Variations for Congenital Nervous System Abnormality

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ClinVar genetic disease variations for Congenital Nervous System Abnormality:

⁵ (show top 50) (show all 138)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PSEN1	NM_000021.4(PSEN1):c.833G>C (p.Arg278Thr)	SNV	Pathogenic	18139	rs63749891	GRCh37: 14:73664802-73664802 GRCh38: 14:73198094-73198094
2	KCNV2	NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)	SNV	Pathogenic	37247	rs149648640	GRCh37: 9:2729470-2729470 GRCh38: 9:2729470-2729470
3	CEP290	NM_025114.4(CEP290):c.3176del (p.Ile1059fs)	DEL	Pathogenic	217629	rs863225184	GRCh37: 12:88487680-88487680 GRCh38: 12:88093903-88093903
4	MLC1	NM_015166.4(MLC1):c.177+1G>T	SNV	Pathogenic	548493	rs1374593138	GRCh37: 22:50523154-50523154 GRCh38: 22:50084725-50084725
5	MICU1	NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter)	SNV	Pathogenic	265243	rs777327250	GRCh37: 10:74268018-74268018 GRCh38: 10:72508260-72508260
6	MECP2	NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter)	SNV	Pathogenic	143500	rs267608438	GRCh37: X:153297832-153297832 GRCh38: X:154032381-154032381
7	VPS13B	NM_152564.5(VPS13B):c.6804del (p.Phe2268fs)	DEL	Pathogenic	817631	rs761736983	GRCh37: 8:100732717-100732717 GRCh38: 8:99720489-99720489
8	GNAO1	NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys)	SNV	Pathogenic	208777	rs797044951	GRCh37: 16:56385308-56385308 GRCh38: 16:56351396-56351396
9	POLG	NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	SNV	Pathogenic	206556	rs201732356	GRCh37: 15:89861968-89861968 GRCh38: 15:89318737-89318737
10	CACNA1A	NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)	SNV	Pathogenic	254268		GRCh37: 19:13414398-13414398 GRCh38: 19:13303584-13303584
11	RNASEH2C	NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	SNV	Pathogenic	1260	rs78635798	GRCh37: 11:65487856-65487856 GRCh38: 11:65720385-65720385
12	CPT2	NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)	SNV	Pathogenic	8958	rs74315295	GRCh37: 1:53676494-53676494 GRCh38: 1:53210822-53210822
13	ASPM	NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)	MICROSAT	Pathogenic	21560	rs199422147	GRCh37: 1:197108961-197108964 GRCh38: 1:197139831-197139834
14	CREBBP	NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	SNV	Pathogenic	9433	rs267606752	GRCh37: 16:3799632-3799632 GRCh38: 16:3749631-3749631
15	SRD5A3	NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter)	SNV	Pathogenic	18406	rs267607095	GRCh37: 4:56230300-56230300 GRCh38: 4:55364133-55364133
16	CAMK2B	NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)	SNV	Pathogenic	430922	rs1554389088	GRCh37: 7:44283125-44283125 GRCh38: 7:44243526-44243526
17	ARSA	NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	SNV	Pathogenic	3060	rs74315459	GRCh37: 22:51064630-51064630 GRCh38: 22:50626202-50626202
18	POMT1	NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)	SNV	Pathogenic	3243	rs119462982	GRCh37: 9:134385188-134385188 GRCh38: 9:131509801-131509801
19	ZEB2	NM_014795.4(ZEB2):c.625C>T (p.Gln209Ter)	SNV	Pathogenic	1180834		GRCh37: 2:145161665-145161665 GRCh38: 2:144404098-144404098
20	TBCK	NM_001163435.3(TBCK):c.247C>T (p.Arg83Ter)	SNV	Pathogenic	1180828		GRCh37: 4:107216270-107216270 GRCh38: 4:106295113-106295113
21	PLA2G6	NM_003560.4(PLA2G6):c.1893G>A (p.Trp631Ter)	SNV	Pathogenic	1180814		GRCh37: 22:38511675-38511675 GRCh38: 22:38115668-38115668
22	ASPM	NM_018136.5(ASPM):c.1694del (p.Ser565fs)	DEL	Pathogenic	1180803		GRCh37: 1:197111688-197111688 GRCh38: 1:197142558-197142558
23	VLDLR	NM_003383.5(VLDLR):c.2466G>A (p.Trp822Ter)	SNV	Pathogenic	1180758		GRCh37: 9:2652829-2652829 GRCh38: 9:2652829-2652829
24	TSEN54	NM_207346.3(TSEN54):c.1252+1G>T	SNV	Pathogenic	1180778		GRCh37: 17:73518415-73518415 GRCh38: 17:75522334-75522334
25	ASPM	NM_018136.5(ASPM):c.6047_6053del (p.His2015_Leu2016insTer)	DEL	Pathogenic	1180743		GRCh37: 1:197072328-197072334 GRCh38: 1:197103198-197103204
26	ASPM	NM_018136.5(ASPM):c.1592_1595del (p.Val531fs)	DEL	Pathogenic	1180742		GRCh37: 1:197111787-197111790 GRCh38: 1:197142657-197142660
27	POMGNT1	NM_017739.4(POMGNT1):c.74G>A (p.Trp25Ter)	SNV	Pathogenic	1180732		GRCh37: 1:46663420-46663420 GRCh38: 1:46197748-46197748
28	AP4M1	NM_004722.4(AP4M1):c.53_54del (p.Lys18fs)	DEL	Pathogenic	1180679		GRCh37: 7:99699389-99699390 GRCh38: 7:100101766-100101767
29	ZIC2	NM_007129.5(ZIC2):c.1182_1183dup (p.Cys395fs)	MICROSAT	Pathogenic	1180672		GRCh37: 13:100637302-100637303 GRCh38: 13:99985048-99985049
30	WDR62	NM_001083961.2(WDR62):c.1319G>A (p.Trp440Ter)	SNV	Pathogenic	1180671		GRCh37: 19:36572420-36572420 GRCh38: 19:36081518-36081518
31	KMT2D	NM_003482.4(KMT2D):c.9790C>T (p.Gln3264Ter)	SNV	Pathogenic	1180635		GRCh37: 12:49431349-49431349 GRCh38: 12:49037566-49037566
32	CLN6	NM_017882.3(CLN6):c.396dup (p.Val133fs)	DUP	Pathogenic	1180629		GRCh37: 15:68504102-68504103 GRCh38: 15:68211764-68211765
33	AMPD2	NM_001368809.2(AMPD2):c.532-1G>T	SNV	Pathogenic	1180624		GRCh37: 1:110169347-110169347 GRCh38: 1:109626725-109626725
34	NALCN	NM_052867.4(NALCN):c.1313G>A (p.Trp438Ter)	SNV	Pathogenic	1180618		GRCh37: 13:101890227-101890227 GRCh38: 13:101237876-101237876
35	FUCA1	NM_000147.5(FUCA1):c.768+1G>A	SNV	Pathogenic	984720	rs1639468949	GRCh37: 1:24186287-24186287 GRCh38: 1:23859797-23859797
36	TPP1	NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter)	SNV	Pathogenic	370212	rs1057516319	GRCh37: 11:6636680-6636680 GRCh38: 11:6615449-6615449
37	PNKP	NM_007254.4(PNKP):c.976G>A (p.Glu326Lys)	SNV	Pathogenic	4846	rs267606956	GRCh37: 19:50365681-50365681 GRCh38: 19:49862424-49862424
38	TRAPPC9	NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter)	SNV	Pathogenic	758	rs267607136	GRCh37: 8:141407724-141407724 GRCh38: 8:140397625-140397625
39	GNAO1	NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)	SNV	Pathogenic	66115		GRCh37: 16:56370656-56370656 GRCh38: 16:56336744-56336744
40	FOXG1	NM_005249.5(FOXG1):c.256dup (p.Gln86fs)	DUP	Pathogenic	189613	rs786205001	GRCh37: 14:29236734-29236735 GRCh38: 14:28767528-28767529
41	TMEM67	NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)	SNV	Pathogenic	216826	rs775883520	GRCh37: 8:94792831-94792831 GRCh38: 8:93780603-93780603
42	DCX	NM_001195553.2(DCX):c.240dup (p.Asp81Ter)	DUP	Pathogenic	1180597		GRCh37: X:110653386-110653387 GRCh38: X:111410158-111410159
43	PLA2G6	NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	SNV	Pathogenic	6195	rs121908680	GRCh37: 22:38508219-38508219 GRCh38: 22:38112212-38112212
44	AP4B1-AS1, AP4B1	NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)	DEL	Pathogenic	156414	rs587779388	GRCh37: 1:114441377-114441378 GRCh38: 1:113898755-113898756
45	SRD5A3	NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)	SNV	Pathogenic	96125	rs398124401	GRCh37: 4:56212560-56212560 GRCh38: 4:55346393-55346393
46	TBCK	NM_001163435.3(TBCK):c.1897+1G>A	SNV	Pathogenic	183338	rs374319146	GRCh37: 4:107115874-107115874 GRCh38: 4:106194717-106194717
47	TSC2	NM_000548.5(TSC2):c.2160del (p.Val721fs)	DEL	Pathogenic	1180663		GRCh37: 16:2122302-2122302 GRCh38: 16:2072301-2072301
48	RNASEH2B	NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	SNV	Pathogenic	1262	rs75184679	GRCh37: 13:51519581-51519581 GRCh38: 13:50945445-50945445
49	CEP290	NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	SNV	Pathogenic	1333	rs137852832	GRCh37: 12:88471040-88471040 GRCh38: 12:88077263-88077263
50	GAMT	NM_000156.6(GAMT):c.316C>T (p.Gln106Ter)	SNV	Pathogenic	566624	rs1369786965	GRCh37: 19:1399803-1399803 GRCh38: 19:1399804-1399804

Expression for Congenital Nervous System Abnormality

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

Pathways for Congenital Nervous System Abnormality

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

#	Super pathways	Score	Top Affiliating Genes
1	Lissencephaly gene (LIS1) in neuronal migration and development ⁶¹	10.07	VLDLR DCX

GO Terms for Congenital Nervous System Abnormality

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

#	Name	GO ID	Score	Top Affiliating Genes
1	brain development	GO:0007420	9.7	ZIC2 MECP2 FOXG1 DCX ASPM
2	memory	GO:0007613	9.65	VLDLR PLA2G6 MECP2
3	positive regulation of neuroblast proliferation	GO:0002052	9.43	WDR62 FOXG1 ASPM
4	cerebral cortex development	GO:0021987	9.17	WDR62 TRAPPC9 FOXG1 ASPM

Sources for Congenital Nervous System Abnormality

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² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z