Lissencephaly 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LIS3 MCID: LSS009 MIFTS: 39	Lissencephaly 3 (LIS3) Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Lissencephaly 3

MalaCards integrated aliases for Lissencephaly 3:

Name: Lissencephaly 3 ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ⁷⁰

Lis3 ⁵⁷ ¹² ⁷²

Type Iii Lissencephaly ²⁹ ⁶

Lissencephaly Due to Tuba1a Mutation ⁵⁸

Lissencephaly, Type 3 ³⁹

Lissencephaly Type 3 ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

lissencephaly due to tuba1a mutation
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide);

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in most patients)

HPO:

³¹

lissencephaly 3:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Respiratory diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other reduction deformities of brain

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0112232

OMIM® ⁵⁷ 611603

OMIM Phenotypic Series ⁵⁷ PS607432

MeSH ⁴⁴ D054082

ICD10 via Orphanet ³³ Q04.3

UMLS via Orphanet ⁷¹ C1969029

Orphanet ⁵⁸ ORPHA102011 ORPHA171680

MedGen ⁴¹ C1969029

SNOMED-CT via HPO ⁶⁸ 128490007 128613002 192965001 more

UMLS ⁷⁰ C1969029

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Summaries for Lissencephaly 3

UniProtKB/Swiss-Prot : ⁷² Lissencephaly 3: A classic type lissencephaly associated with psychomotor retardation and seizures. Features include agyria or pachygyria or laminar heterotopia, severe mental retardation, motor delay, variable presence of seizures, and abnormalities of corpus callosum, hippocampus, cerebellar vermis and brainstem.

MalaCards based summary : Lissencephaly 3, also known as lis3, is related to lissencephaly and lissencephaly with cerebellar hypoplasia, and has symptoms including seizures and ataxia. An important gene associated with Lissencephaly 3 is TUBA1A (Tubulin Alpha 1a). Affiliated tissues include brain, and related phenotypes are agenesis of corpus callosum and ataxia

Disease Ontology : ¹² A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has material basis in heterozygous mutation in TUBA1A on chromosome 12q13.12.

More information from OMIM: 611603 PS607432

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Related Diseases for Lissencephaly 3

Diseases in the Lissencephaly family:

Lissencephaly 2	Lissencephaly 1
Lissencephaly 3	Lissencephaly 4
Lissencephaly 5	Lissencephaly 8
Lissencephaly 10	Lissencephaly 6

Diseases related to Lissencephaly 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	lissencephaly	30.1	TUBA1A CENPJ
2	lissencephaly with cerebellar hypoplasia	11.2
3	lissencephaly type iii and bone dysplasia	11.1
4	lissencephaly type 3-familial fetal akinesia sequence syndrome	11.1
5	fetal akinesia deformation sequence 1	10.1
6	neu-laxova syndrome 1	10.0
7	pontocerebellar hypoplasia	10.0
8	microlissencephaly	10.0
9	hydranencephaly	10.0
10	common mesentery	10.0
11	cobblestone lissencephaly	10.0
12	band heterotopia	9.9	TUBA1A CENPJ
13	congenital nervous system abnormality	9.9	TUBA1A CENPJ
14	physical disorder	9.8	TUBA1A CENPJ
15	periventricular nodular heterotopia	9.8	TUBA1A CENPJ
16	walker-warburg syndrome	9.7	TUBA1A CENPJ
17	primary autosomal recessive microcephaly	9.6	TUBA1A CENPJ

Graphical network of the top 20 diseases related to Lissencephaly 3:

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Symptoms & Phenotypes for Lissencephaly 3

Human phenotypes related to Lissencephaly 3:

³¹ (show all 16)

#	Description	HPO Source Accession
1	agenesis of corpus callosum ³¹	HP:0001274
2	ataxia ³¹	HP:0001251
3	microcephaly ³¹	HP:0000252
4	spastic tetraplegia ³¹	HP:0002510
5	intellectual disability, severe ³¹	HP:0010864
6	motor delay ³¹	HP:0001270
7	ventriculomegaly ³¹	HP:0002119
8	polymicrogyria ³¹	HP:0002126
9	pachygyria ³¹	HP:0001302
10	hypoplasia of the corpus callosum ³¹	HP:0002079
11	gray matter heterotopia ³¹	HP:0002282
12	cerebellar vermis hypoplasia ³¹	HP:0001320
13	generalized hypotonia ³¹	HP:0001290
14	hypoplasia of the brainstem ³¹	HP:0002365
15	agyria ³¹	HP:0031882
16	seizure ³¹	HP:0001250

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Neurologic Central Nervous System:
seizures
ataxia
spastic tetraplegia
polymicrogyria
lissencephaly
more

Head And Neck Head:
microcephaly

Clinical features from OMIM®:

611603 (Updated 05-Apr-2021)

UMLS symptoms related to Lissencephaly 3:

seizures; ataxia

GenomeRNAi Phenotypes related to Lissencephaly 3 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-114	9.23	AIPL1
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-115	9.23	TUBA1A
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-134	9.23	AIPL1
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-140	9.23	TUBA1A
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-165	9.23	TUBA1A
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-181	9.23	TUBA1A
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-22	9.23	AIPL1
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-76	9.23	TUBA1A

MGI Mouse Phenotypes related to Lissencephaly 3:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial	MP:0005382	9.13	CENPJ NKX2-5 TUBA1A
2	nervous system	MP:0003631	8.92	AIPL1 CENPJ NKX2-5 TUBA1A

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Drugs & Therapeutics for Lissencephaly 3

Search Clinical Trials , NIH Clinical Center for Lissencephaly 3

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Genetic Tests for Lissencephaly 3

Genetic tests related to Lissencephaly 3:

#	Genetic test	Affiliating Genes
1	Lissencephaly 3 ²⁹	TUBA1A
2	Type Iii Lissencephaly ²⁹

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Anatomical Context for Lissencephaly 3

MalaCards organs/tissues related to Lissencephaly 3:

⁴⁰

Brain

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Publications for Lissencephaly 3

Articles related to Lissencephaly 3:

(show all 15)

#	Title	Authors	PMID	Year
1	TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. ⁶ ⁵⁷	Jansen AC...Lissens W	21403111	2011
2	TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. ⁵⁷ ⁶	Kumar RA...Dobyns WB	20466733	2010
3	Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. ⁶ ⁵⁷	Morris-Rosendahl DJ...Uyanik G	18954413	2008
4	Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. ⁶ ⁵⁷	Bahi-Buisson N...Chelly J	18728072	2008
5	Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). ⁶ ⁵⁷	Poirier K...Chelly J	17584854	2007
6	Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. ⁶ ⁵⁷	Keays DA...Flint J	17218254	2007
7	Comprehensive genomic analysis of patients with disorders of cerebral cortical development. ⁶	Wiszniewski W...Lupski JR	29706646	2018
8	Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation. ⁶	Gardner JF...Fry AE	30087272	2018
9	Molecular diagnostic experience of whole-exome sequencing in adult patients. ⁶	Posey JE...Plon SE	26633545	2016
10	Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. ⁵⁷	Fallet-Bianco C...Bahi-Buisson N	25059107	2014
11	The wide spectrum of tubulinopathies: what are the key features for the diagnosis? ⁶	Bahi-Buisson N...Chelly J	24860126	2014
12	Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. ⁵⁷	Poirier K...Bahi-Buisson N	22948023	2013
13	Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway. ⁶	Tian G...Cowan NJ	20603323	2010
14	Iterative ACORN as a high throughput tool in structural genomics. ⁶¹	Selvanayagam S...Yamane T	17133764	2006
15	Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration. ⁶¹	Reiner O...Caskey CT	7751941	1995

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Genes for Lissencephaly 3

Genes related to Lissencephaly 3 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TUBA1A	Tubulin Alpha 1a	Protein Coding	1693.04	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	17584854 20603323 18669490 (more) 18954413 22264709
2	CENPJ	Centromere Protein J	Protein Coding	400	Pathogenic ⁶
3	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	6.69	GeneCards inferred via : Variants (show sections)
4	NKX2-5	NK2 Homeobox 5	Protein Coding	6.69	GeneCards inferred via : Variants (show sections)

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Variations for Lissencephaly 3

ClinVar genetic disease variations for Lissencephaly 3:

⁶ (show top 50) (show all 73)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TUBA1A	NM_006009.4(TUBA1A):c.562A>C (p.Ile188Leu)	SNV	Pathogenic	7072	rs137853045	GRCh37: 12:49579587-49579587 GRCh38: 12:49185804-49185804
2	TUBA1A	NM_006009.4(TUBA1A):c.787C>A (p.Pro263Thr)	SNV	Pathogenic	7073	rs137853046	GRCh37: 12:49579362-49579362 GRCh38: 12:49185579-49185579
3	TUBA1A	NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu)	SNV	Pathogenic	7074	rs137853047	GRCh37: 12:49578893-49578893 GRCh38: 12:49185110-49185110
4	TUBA1A	NM_006009.4(TUBA1A):c.1190T>C (p.Leu397Pro)	SNV	Pathogenic	7075	rs137853048	GRCh37: 12:49578959-49578959 GRCh38: 12:49185176-49185176
5	TUBA1A	NM_006009.4(TUBA1A):c.13A>C (p.Ile5Leu)	SNV	Pathogenic	30268	rs387906840	GRCh37: 12:49580607-49580607 GRCh38: 12:49186824-49186824
6	TUBA1A	NM_006009.4(TUBA1A):c.1205G>T (p.Arg402Leu)	SNV	Pathogenic	160147	rs137853044	GRCh37: 12:49578944-49578944 GRCh38: 12:49185161-49185161
7	TUBA1A	NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp)	SNV	Pathogenic	160158	rs587784488	GRCh37: 12:49579668-49579668 GRCh38: 12:49185885-49185885
8	TUBA1A	NM_006009.4(TUBA1A):c.1224C>A (p.Tyr408Ter)	SNV	Pathogenic	209200	rs753719501	GRCh37: 12:49578925-49578925 GRCh38: 12:49185142-49185142
9	TUBA1A	NM_006009.4(TUBA1A):c.167C>T (p.Thr56Met)	SNV	Pathogenic	625513	rs1565627727	GRCh37: 12:49580453-49580453 GRCh38: 12:49186670-49186670
10	TUBA1A	NM_006009.4(TUBA1A):c.701T>G (p.Ile234Ser)	SNV	Pathogenic	976320		GRCh37: 12:49579448-49579448 GRCh38: 12:49185665-49185665
11	TUBA1A	NM_006009.4(TUBA1A):c.545T>C (p.Val182Ala)	SNV	Pathogenic	977324		GRCh37: 12:49579604-49579604 GRCh38: 12:49185821-49185821
12	TUBA1A	NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His)	SNV	Pathogenic	488628	rs1064796460	GRCh37: 12:49578980-49578980 GRCh38: 12:49185197-49185197
13	TUBA1A	NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys)	SNV	Pathogenic	7076	rs137853049	GRCh37: 12:49578885-49578885 GRCh38: 12:49185102-49185102
14	TUBA1A	NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala)	SNV	Pathogenic	208490	rs797045005	GRCh37: 12:49578923-49578923 GRCh38: 12:49185140-49185140
15	TUBA1A	NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)	SNV	Pathogenic	372561	rs1057517858	GRCh37: 12:49579497-49579497 GRCh38: 12:49185714-49185714
16	CENPJ	NM_018451.5(CENPJ):c.1132C>T (p.Arg378Ter)	SNV	Pathogenic	503611	rs201111299	GRCh37: 13:25481044-25481044 GRCh38: 13:24906906-24906906
17	TUBA1A	NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys)	SNV	Pathogenic	7070	rs137853043	GRCh37: 12:49579359-49579359 GRCh38: 12:49185576-49185576
18	TUBA1A	NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His)	SNV	Pathogenic	7071	rs137853044	GRCh37: 12:49578944-49578944 GRCh38: 12:49185161-49185161
19	TUBA1A	NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His)	SNV	Pathogenic	7077	rs137853050	GRCh37: 12:49578884-49578884 GRCh38: 12:49185101-49185101
20	TUBA1A	NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)	SNV	Pathogenic	160146	rs587784483	GRCh37: 12:49578945-49578945 GRCh38: 12:49185162-49185162
21	CENPJ	NM_018451.5(CENPJ):c.289dup (p.Thr97fs)	Duplication	Pathogenic	279750	rs759188041	GRCh37: 13:25486874-25486875 GRCh38: 13:24912736-24912737
22	TUBA1A	NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser)	SNV	Pathogenic	160167	rs587784495	GRCh37: 12:49579163-49579163 GRCh38: 12:49185380-49185380
23	TUBA1A	NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys)	SNV	Pathogenic	864866		GRCh37: 12:49579191-49579191 GRCh38: 12:49185408-49185408
24	TUBA1A	NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)	SNV	Pathogenic/Likely pathogenic	372542	rs1057517843	GRCh37: 12:49579508-49579508 GRCh38: 12:49185725-49185725
25	TUBA1A	NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro)	SNV	Pathogenic/Likely pathogenic	423490	rs1064796460	GRCh37: 12:49578980-49578980 GRCh38: 12:49185197-49185197
26	TUBA1A	NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)	SNV	Pathogenic/Likely pathogenic	160161	rs587784491	GRCh37: 12:49580615-49580615 GRCh38: 12:49186832-49186832
27	TUBA1A	NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)	SNV	Likely pathogenic	160159	rs587784489	GRCh37: 12:49579628-49579628 GRCh38: 12:49185845-49185845
28	TUBA1A	NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr)	SNV	Likely pathogenic	212488	rs797046071	GRCh37: 12:49579044-49579044 GRCh38: 12:49185261-49185261
29	TUBA1A	NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)	SNV	Likely pathogenic	372561	rs1057517858	GRCh37: 12:49579497-49579497 GRCh38: 12:49185714-49185714
30	TUBA1A	NM_006009.4(TUBA1A):c.1156G>A (p.Glu386Lys)	SNV	Likely pathogenic	1028470		GRCh37: 12:49578993-49578993 GRCh38: 12:49185210-49185210
31	TUBA1A	NM_006009.4(TUBA1A):c.703G>C (p.Val235Leu)	SNV	Likely pathogenic	1028472		GRCh37: 12:49579446-49579446 GRCh38: 12:49185663-49185663
32	TUBA1A	NM_006009.4(TUBA1A):c.217A>G (p.Thr73Ala)	SNV	Likely pathogenic	689469	rs1592260393	GRCh37: 12:49580403-49580403 GRCh38: 12:49186620-49186620
33	TUBA1A	NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr)	SNV	Likely pathogenic	160169	rs587784497	GRCh37: 12:49579154-49579154 GRCh38: 12:49185371-49185371
34	TUBA1A	NM_006009.4(TUBA1A):c.1084G>C (p.Val362Leu)	SNV	Likely pathogenic	978812		GRCh37: 12:49579065-49579065 GRCh38: 12:49185282-49185282
35	TUBA1A	NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn)	SNV	Likely pathogenic	632599	rs1565627707	GRCh37: 12:49580440-49580440 GRCh38: 12:49186657-49186657
36	TUBA1A	NM_006009.4(TUBA1A):c.196_206delinsACGTGTGTCGC (p.Val66_Asp69delinsThrCysValAla)	Indel	Likely pathogenic	977831		GRCh37: 12:49580414-49580424 GRCh38: 12:49186631-49186641
37	TUBA1A	NM_006009.4(TUBA1A):c.1049G>T (p.Gly350Val)	SNV	Likely pathogenic	873446		GRCh37: 12:49579100-49579100 GRCh38: 12:49185317-49185317
38	TUBA1A	NM_006009.4(TUBA1A):c.47T>C (p.Ile16Thr)	SNV	Likely pathogenic	873454		GRCh37: 12:49580573-49580573 GRCh38: 12:49186790-49186790
39	TUBA1A	NM_006009.4(TUBA1A):c.74G>A (p.Cys25Tyr)	SNV	Likely pathogenic	800951	rs1565627777	GRCh37: 12:49580546-49580546 GRCh38: 12:49186763-49186763
40	TUBA1A	NM_006009.4(TUBA1A):c.1261G>A (p.Ala421Thr)	SNV	Likely pathogenic	802856	rs1592259391	GRCh37: 12:49578888-49578888 GRCh38: 12:49185105-49185105
41	TUBA1A	NM_006009.4(TUBA1A):c.598T>C (p.Cys200Arg)	SNV	Likely pathogenic	864864		GRCh37: 12:49579551-49579551 GRCh38: 12:49185768-49185768
42	TUBA1A	NM_006009.4(TUBA1A):c.746A>G (p.Asn249Ser)	SNV	Likely pathogenic	864865		GRCh37: 12:49579403-49579403 GRCh38: 12:49185620-49185620
43	TUBA1A	NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser)	SNV	Likely pathogenic	160164	rs587784494	GRCh37: 12:49579341-49579341 GRCh38: 12:49185558-49185558
44	TUBA1A	NM_006009.4(TUBA1A):c.962G>A (p.Gly321Asp)	SNV	Likely pathogenic	620024		GRCh37: 12:49579187-49579187 GRCh38: 12:49185404-49185404
45	TUBA1A	NM_006009.4(TUBA1A):c.269A>G (p.Glu90Gly)	SNV	Likely pathogenic	212491	rs797046072	GRCh37: 12:49580199-49580199 GRCh38: 12:49186416-49186416
46	TUBA1A	NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu)	SNV	Likely pathogenic	212494	rs797046073	GRCh37: 12:49579179-49579179 GRCh38: 12:49185396-49185396
47	TUBA1A	NM_006009.4(TUBA1A):c.352G>A (p.Val118Met)	SNV	Likely pathogenic	217023	rs863224938	GRCh37: 12:49580116-49580116 GRCh38: 12:49186333-49186333
48	TUBA1A	NM_006009.4(TUBA1A):c.1144A>G (p.Thr382Ala)	SNV	Likely pathogenic	437121	rs1555162294	GRCh37: 12:49579005-49579005 GRCh38: 12:49185222-49185222
49	TUBA1A	NM_006009.4(TUBA1A):c.368G>A (p.Arg123His)	SNV	Likely pathogenic	437122	rs1555162456	GRCh37: 12:49580100-49580100 GRCh38: 12:49186317-49186317
50	TUBA1A	NM_006009.4(TUBA1A):c.1304T>C (p.Val435Ala)	SNV	Likely pathogenic	437120	rs1555162242	GRCh37: 12:49578845-49578845 GRCh38: 12:49185062-49185062

UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 3:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	TUBA1A	p.Ile188Leu	VAR_039332	rs137853045
2	TUBA1A	p.Pro263Thr	VAR_039333	rs137853046
3	TUBA1A	p.Arg264Cys	VAR_039334	rs137853043
4	TUBA1A	p.Leu286Phe	VAR_039335
5	TUBA1A	p.Arg402Cys	VAR_039336	rs587784483
6	TUBA1A	p.Arg402His	VAR_039337	rs137853044
7	TUBA1A	p.Ser419Leu	VAR_039338	rs137853047
8	TUBA1A	p.Arg402Leu	VAR_078711	rs137853044

Sources

Expression for Lissencephaly 3

Search GEO for disease gene expression data for Lissencephaly 3.

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Pathways for Lissencephaly 3

Sources

GO Terms for Lissencephaly 3

Biological processes related to Lissencephaly 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	G2/M transition of mitotic cell cycle	GO:0000086	9.16	TUBA1A CENPJ
2	ciliary basal body-plasma membrane docking	GO:0097711	8.96	TUBA1A CENPJ
3	regulation of G2/M transition of mitotic cell cycle	GO:0010389	8.62	TUBA1A CENPJ

Molecular functions related to Lissencephaly 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein domain specific binding	GO:0019904	8.62	TUBA1A CENPJ

Sources

Sources for Lissencephaly 3

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 FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Lissencephaly 3 (LIS3)

Aliases & Classifications for Lissencephaly 3

MalaCards integrated aliases for Lissencephaly 3:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Lissencephaly 3

Related Diseases for Lissencephaly 3

Diseases in the Lissencephaly family:

Diseases related to Lissencephaly 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Lissencephaly 3:

Symptoms & Phenotypes for Lissencephaly 3

Human phenotypes related to Lissencephaly 3:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Lissencephaly 3:

GenomeRNAi Phenotypes related to Lissencephaly 3 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Lissencephaly 3:

Drugs & Therapeutics for Lissencephaly 3

Genetic Tests for Lissencephaly 3

Genetic tests related to Lissencephaly 3:

Anatomical Context for Lissencephaly 3

MalaCards organs/tissues related to Lissencephaly 3:

Publications for Lissencephaly 3

Articles related to Lissencephaly 3:

Genes for Lissencephaly 3

Genes related to Lissencephaly 3 (2 elite genes):

Variations for Lissencephaly 3

ClinVar genetic disease variations for Lissencephaly 3:

UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 3:

Expression for Lissencephaly 3

Pathways for Lissencephaly 3

GO Terms for Lissencephaly 3

Biological processes related to Lissencephaly 3 according to GeneCards Suite gene sharing:

Molecular functions related to Lissencephaly 3 according to GeneCards Suite gene sharing:

Sources for Lissencephaly 3