Warburg Micro Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

WARBM2 MCID: WRB003 MIFTS: 41	Warburg Micro Syndrome 2 (WARBM2) Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Warburg Micro Syndrome 2

MalaCards integrated aliases for Warburg Micro Syndrome 2:

Name: Warburg Micro Syndrome 2 ⁵⁶ ¹² ⁷³ ²⁹ ¹³ ⁶ ¹⁵ ⁷¹

Micro Syndrome 2 ⁵⁶ ¹² ⁷³

Warbm2 ⁵⁶ ¹² ⁷³

Warburg Micro Syndrome, Type 2 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

warburg micro syndrome 2:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly affecting facial appearance

External Ids:

Disease Ontology ¹² DOID:0110717

OMIM ⁵⁶ 614225

OMIM Phenotypic Series ⁵⁶ PS600118

MeSH ⁴³ D000015

ICD10 ³² Q87.0

MedGen ⁴¹ C3280214

UMLS ⁷¹ C3280214

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Summaries for Warburg Micro Syndrome 2

UniProtKB/Swiss-Prot : ⁷³ Warburg micro syndrome 2: A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.

MalaCards based summary : Warburg Micro Syndrome 2, also known as micro syndrome 2, is related to spastic cerebral palsy and rab18 deficiency. An important gene associated with Warburg Micro Syndrome 2 is RAB3GAP2 (RAB3 GTPase Activating Non-Catalytic Protein Subunit 2), and among its related pathways/superpathways are Vesicle-mediated transport and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include brain, and related phenotypes are macrotia and short nose

Disease Ontology : ¹² A Warburg micro syndrome that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.

More information from OMIM: 614225 PS600118

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Related Diseases for Warburg Micro Syndrome 2

Diseases in the Warburg Micro Syndrome family:

Warburg Micro Syndrome 1	Warburg Micro Syndrome 3
Warburg Micro Syndrome 2	Warburg Micro Syndrome 4

Diseases related to Warburg Micro Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	spastic cerebral palsy	9.9	TBC1D20 RAB3GAP1
2	rab18 deficiency	9.9	TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
3	spastic diplegia	9.8	TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
4	microphthalmia	9.7	TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
5	warburg micro syndrome 4	9.7	TBC1D20 RAB3GAP2 RAB3GAP1 RAB2A RAB18
6	martsolf syndrome	9.6	TBC1D20 RAB3GAP2 RAB3GAP1 RAB3A RAB18
7	warburg micro syndrome 1	9.3	ZNF718 ZNF595 TBC1D20 RAB3GAP2 RAB3GAP1 RAB2A
8	warburg micro syndrome	9.3	ZNF718 TBC1D20 RAB3GAP2 RAB3GAP1 RAB3A RAB2A
9	warburg micro syndrome 3	5.8	ZNF718 ZNF595 TYRO3 TBC1D20 TBC1D1 STK38L

Graphical network of the top 20 diseases related to Warburg Micro Syndrome 2:

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Symptoms & Phenotypes for Warburg Micro Syndrome 2

Human phenotypes related to Warburg Micro Syndrome 2:

³¹ (show all 27)

#	Description	HPO Source Accession
1	macrotia ³¹	HP:0000400
2	short nose ³¹	HP:0003196
3	optic atrophy ³¹	HP:0000648
4	flexion contracture ³¹	HP:0001371
5	brachycephaly ³¹	HP:0000248
6	intellectual disability, severe ³¹	HP:0010864
7	absent speech ³¹	HP:0001344
8	cryptorchidism ³¹	HP:0000028
9	postnatal growth retardation ³¹	HP:0008897
10	micropenis ³¹	HP:0000054
11	microphthalmia ³¹	HP:0000568
12	low anterior hairline ³¹	HP:0000294
13	prominent nasal bridge ³¹	HP:0000426
14	severe global developmental delay ³¹	HP:0011344
15	microcornea ³¹	HP:0000482
16	polymicrogyria ³¹	HP:0002126
17	scrotal hypoplasia ³¹	HP:0000046
18	hypoplastic labia majora ³¹	HP:0000059
19	hypoplasia of the corpus callosum ³¹	HP:0002079
20	postnatal microcephaly ³¹	HP:0005484
21	spastic diplegia ³¹	HP:0001264
22	muscular hypotonia of the trunk ³¹	HP:0008936
23	developmental cataract ³¹	HP:0000519
24	overlapping toe ³¹	HP:0001845
25	global brain atrophy ³¹	HP:0002283
26	asymmetry of the ears ³¹	HP:0010722
27	undetectable visual evoked potentials ³¹	HP:0007965

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
global developmental delay
severe mental retardation
hypoplastic corpus callosum
axial hypotonia
generalized brain atrophy
more

Head And Neck Head:
brachycephaly
postnatal microcephaly

Growth Height:
postnatal growth retardation

Head And Neck Eyes:
microphthalmia
microcornea
optic nerve atrophy
congenital cataracts, bilateral
atonic pupils
more

Skin Nails Hair Hair:
low anterior hairline

Head And Neck Ears:
large ears
asymmetric ears

Skeletal Limbs:
contractures

Head And Neck Nose:
short nose
prominent nasal root

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
micropenis
scrotal hypoplasia

Head And Neck Face:
low anterior hairline

Skeletal Skull:
microcephaly, postnatal

Skeletal Feet:
overlapping toes

Genitourinary External Genitalia Female:
hypoplasia of labia majora

Clinical features from OMIM:

614225

MGI Mouse Phenotypes related to Warburg Micro Syndrome 2:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.36	EXO1 GSK3B HACD1 PRNP RAB2A RAB3A

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Drugs & Therapeutics for Warburg Micro Syndrome 2

Search Clinical Trials , NIH Clinical Center for Warburg Micro Syndrome 2

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Genetic Tests for Warburg Micro Syndrome 2

Genetic tests related to Warburg Micro Syndrome 2:

#	Genetic test	Affiliating Genes
1	Warburg Micro Syndrome 2 ²⁹	RAB3GAP2

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Anatomical Context for Warburg Micro Syndrome 2

MalaCards organs/tissues related to Warburg Micro Syndrome 2:

⁴⁰

Brain

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Publications for Warburg Micro Syndrome 2

Articles related to Warburg Micro Syndrome 2:

#	Title	Authors	PMID	Year
1	Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. ⁶ ⁵⁶	Handley MT...Aligianis IA	23420520	2013
2	A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. ⁶ ⁵⁶	Borck G...Kubisch C	20967465	2011
3	RAB18 Deficiency ⁶	Handley M...Sheridan E	29300443	2018
4	Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? ⁶¹	Gumus E	29419336	2018

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Genes for Warburg Micro Syndrome 2

Genes related to Warburg Micro Syndrome 2 (1 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RAB3GAP2	RAB3 GTPase Activating Non-Catalytic Protein Subunit 2	Protein Coding	1029.07	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23420520 20967465 29300443
2	TBC1D20	TBC1 Domain Family Member 20	Protein Coding	8.45	DISEASES inferred ¹⁵
3	RAB3GAP1	RAB3 GTPase Activating Protein Catalytic Subunit 1	Protein Coding	8.2	DISEASES inferred ¹⁵
4	RAB18	RAB18, Member RAS Oncogene Family	Protein Coding	8.11	DISEASES inferred ¹⁵
5	ZNF718	Zinc Finger Protein 718	Protein Coding	6.33	DISEASES inferred ¹⁵
6	RAB2A	RAB2A, Member RAS Oncogene Family	Protein Coding	6.3	DISEASES inferred ¹⁵
7	TBC1D1	TBC1 Domain Family Member 1	Protein Coding	6.13	DISEASES inferred ¹⁵
8	ZNF595	Zinc Finger Protein 595	Protein Coding	5.88	DISEASES inferred ¹⁵
9	RAB3A	RAB3A, Member RAS Oncogene Family	Protein Coding	5.41	DISEASES inferred ¹⁵
10	HACD1	3-Hydroxyacyl-CoA Dehydratase 1	Protein Coding	5.33	DISEASES inferred ¹⁵
11	STK38L	Serine/Threonine Kinase 38 Like	Protein Coding	5.19	DISEASES inferred ¹⁵
12	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	4.63	DISEASES inferred ¹⁵
13	RAB3D	RAB3D, Member RAS Oncogene Family	Protein Coding	4.26	DISEASES inferred ¹⁵
14	AGFG1	ArfGAP With FG Repeats 1	Protein Coding	3.95	DISEASES inferred ¹⁵
15	EXO1	Exonuclease 1	Protein Coding	3.78	DISEASES inferred ¹⁵
16	TYRO3	TYRO3 Protein Tyrosine Kinase	Protein Coding	3.57	DISEASES inferred ¹⁵
17	PRNP	Prion Protein	Protein Coding	3.33	DISEASES inferred ¹⁵

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Variations for Warburg Micro Syndrome 2

ClinVar genetic disease variations for Warburg Micro Syndrome 2:

⁶ (show top 50) (show all 152) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs)	duplication	Pathogenic	436479	rs1553275687	1:220356064-220356065	1:220182722-220182723
2	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter)	SNV	Pathogenic	100788	rs587777168	1:220364463-220364463	1:220191121-220191121
3	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter)	SNV	Pathogenic	100789	rs587777169	1:220327318-220327318	1:220153976-220153976
4	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter)	SNV	Pathogenic	100790	rs587777170	1:220340637-220340637	1:220167295-220167295
5	RAB3GAP2	NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del)	deletion	Pathogenic	30782	rs1553278569	1:220384146-220384154	1:220210804-220210812
6	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)	SNV	Pathogenic/Likely pathogenic	100787	rs587777167	1:220364621-220364621	1:220191279-220191279
7	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val)	SNV	Conflicting interpretations of pathogenicity	211984	rs201613456	1:220356264-220356264	1:220182922-220182922
8	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)	SNV	Conflicting interpretations of pathogenicity	235683	rs139337049	1:220355619-220355619	1:220182277-220182277
9	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3702C>T (p.Val1234=)	SNV	Conflicting interpretations of pathogenicity	286109	rs137897304	1:220326692-220326692	1:220153350-220153350
10	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys)	SNV	Conflicting interpretations of pathogenicity	287196	rs34081806	1:220326552-220326552	1:220153210-220153210
11	RAB3GAP2	NM_012414.4(RAB3GAP2):c.713-2A>G	SNV	Conflicting interpretations of pathogenicity	208607	rs797045103	1:220375718-220375718	1:220202376-220202376
12	RAB3GAP2	NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)	SNV	Conflicting interpretations of pathogenicity	211989	rs59190330	1:220324715-220324715	1:220151373-220151373
13	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu)	SNV	Conflicting interpretations of pathogenicity	295652	rs150643803	1:220356104-220356104	1:220182762-220182762
14	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3867+13C>T	SNV	Conflicting interpretations of pathogenicity	295640	rs200579008	1:220326514-220326514	1:220153172-220153172
15	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=)	SNV	Conflicting interpretations of pathogenicity	295642	rs140377995	1:220330777-220330777	1:220157435-220157435
16	RAB3GAP2	NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=)	SNV	Conflicting interpretations of pathogenicity	130073	rs576411922	1:220375655-220375655	1:220202313-220202313
17	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=)	SNV	Conflicting interpretations of pathogenicity	767430		1:220331186-220331186	1:220157844-220157844
18	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*1340T>C	SNV	Uncertain significance	874117		1:220323253-220323253	1:220149911-220149911
19	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*1087A>C	SNV	Uncertain significance	875049		1:220323506-220323506	1:220150164-220150164
20	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*777T>C	SNV	Uncertain significance	875050		1:220323816-220323816	1:220150474-220150474
21	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*509G>A	SNV	Uncertain significance	875978		1:220324084-220324084	1:220150742-220150742
22	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*436A>G	SNV	Uncertain significance	876952		1:220324157-220324157	1:220150815-220150815
23	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*417A>G	SNV	Uncertain significance	876953		1:220324176-220324176	1:220150834-220150834
24	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*391C>T	SNV	Uncertain significance	876954		1:220324202-220324202	1:220150860-220150860
25	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*104T>C	SNV	Uncertain significance	874166		1:220324489-220324489	1:220151147-220151147
26	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*78G>A	SNV	Uncertain significance	874167		1:220324515-220324515	1:220151173-220151173
27	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2922T>A (p.Gly974=)	SNV	Uncertain significance	874219		1:220340902-220340902	1:220167560-220167560
28	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2340G>C (p.Lys780Asn)	SNV	Uncertain significance	876099		1:220346055-220346055	1:220172713-220172713
29	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2059G>A (p.Glu687Lys)	SNV	Uncertain significance	877054		1:220356213-220356213	1:220182871-220182871
30	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1608C>T (p.Asn536=)	SNV	Uncertain significance	875200		1:220363742-220363742	1:220190400-220190400
31	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1593T>A (p.Ser531Arg)	SNV	Uncertain significance	875201		1:220363757-220363757	1:220190415-220190415
32	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1589G>A (p.Gly530Glu)	SNV	Uncertain significance	875202		1:220363761-220363761	1:220190419-220190419
33	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1580C>G (p.Pro527Arg)	SNV	Uncertain significance	876157		1:220363770-220363770	1:220190428-220190428
34	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1516G>A (p.Gly506Ser)	SNV	Uncertain significance	876158		1:220363834-220363834	1:220190492-220190492
35	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1328T>C (p.Val443Ala)	SNV	Uncertain significance	876299		1:220364569-220364569	1:220191227-220191227
36	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1244G>A (p.Arg415Lys)	SNV	Uncertain significance	876300		1:220366608-220366608	1:220193266-220193266
37	RAB3GAP2	NM_012414.4(RAB3GAP2):c.695G>A (p.Arg232Gln)	SNV	Uncertain significance	875250		1:220379266-220379266	1:220205924-220205924
38	RAB3GAP2	NM_012414.4(RAB3GAP2):c.376G>A (p.Val126Ile)	SNV	Uncertain significance	876344		1:220386239-220386239	1:220212897-220212897
39	RAB3GAP2	NM_012414.4(RAB3GAP2):c.205A>G (p.Thr69Ala)	SNV	Uncertain significance	876345		1:220387297-220387297	1:220213955-220213955
40	RAB3GAP2	NM_012414.4(RAB3GAP2):c.86T>G (p.Ile29Ser)	SNV	Uncertain significance	874387		1:220445594-220445594	1:220272252-220272252
41	RAB3GAP2	NM_012414.4(RAB3GAP2):c.-20T>C	SNV	Uncertain significance	874388		1:220445699-220445699	1:220272357-220272357
42	RAB3GAP2	NM_012414.4(RAB3GAP2):c.-68C>T	SNV	Uncertain significance	875305		1:220445747-220445747	1:220272405-220272405
43	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2981-7C>T	SNV	Uncertain significance	874218		1:220340748-220340748	1:220167406-220167406
44	RAB3GAP2	NM_012414.4(RAB3GAP2):c.960+13T>G	SNV	Uncertain significance	875249		1:220369579-220369579	1:220196237-220196237
45	RAB3GAP2	NM_012414.4(RAB3GAP2):c.613-14T>A	SNV	Uncertain significance	876216		1:220379362-220379362	1:220206020-220206020
46	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val)	SNV	Uncertain significance	436474	rs151225064	1:220364491-220364491	1:220191149-220191149
47	RAB3GAP2	NM_012414.4(RAB3GAP2):c.310T>C (p.Trp104Arg)	SNV	Uncertain significance	463030	rs1553278790	1:220386305-220386305	1:220212963-220212963
48	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile)	SNV	Uncertain significance	463031	rs778851334	1:220326589-220326589	1:220153247-220153247
49	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1511T>C (p.Ile504Thr)	SNV	Uncertain significance	463027	rs1553276414	1:220363839-220363839	1:220190497-220190497
50	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys)	SNV	Uncertain significance	463026	rs188522997	1:220366594-220366594	1:220193252-220193252

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Expression for Warburg Micro Syndrome 2

Search GEO for disease gene expression data for Warburg Micro Syndrome 2.

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Pathways for Warburg Micro Syndrome 2

Pathways related to Warburg Micro Syndrome 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Vesicle-mediated transport ⁶⁵ Show member pathways Membrane Trafficking ⁶⁵	12.97	TBC1D20 TBC1D1 RAB3GAP2 RAB3GAP1 RAB3A RAB18
2	Sertoli-Sertoli Cell Junction Dynamics ⁶³ Show member pathways Epithelial Tight Junctions ⁶³ Germ Cell-Sertoli Cell Junction Dynamics ⁶³	12.56	RAB3D RAB3A RAB2A RAB18 GSK3B
3	Autophagy Pathway ⁶⁶	11.84	RAB3D RAB3A RAB2A RAB18
4	RAB GEFs exchange GTP for GDP on RABs ⁶⁵	11.21	RAB3GAP2 RAB3GAP1 RAB3A RAB18
5	COPI-independent Golgi-to-ER retrograde traffic ⁶⁵	10.78	RAB3GAP2 RAB3GAP1 RAB18
6	RAB geranylgeranylation ⁶⁵	10.74	RAB3D RAB3A RAB2A RAB18

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GO Terms for Warburg Micro Syndrome 2

Cellular components related to Warburg Micro Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	postsynapse	GO:0098794	9.43	RAB3GAP1 PRNP GSK3B
2	endomembrane system	GO:0012505	9.26	RAB3D RAB3A RAB2A RAB18
3	endoplasmic reticulum membrane	GO:0005789	9.17	TYRO3 TBC1D20 RAB3GAP2 RAB3GAP1 RAB2A RAB18
4	endoplasmic reticulum tubular network	GO:0071782	9.16	RAB3GAP1 RAB18

Biological processes related to Warburg Micro Syndrome 2 according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of GTPase activity	GO:0043547	9.72	TBC1D20 RAB3GAP2 RAB3GAP1 GSK3B AGFG1
2	vesicle docking involved in exocytosis	GO:0006904	9.52	RAB3D RAB3A
3	negative regulation of calcineurin-NFAT signaling cascade	GO:0070885	9.51	PRNP GSK3B
4	acrosome assembly	GO:0001675	9.49	TBC1D20 AGFG1
5	regulation of short-term neuronal synaptic plasticity	GO:0048172	9.48	RAB3GAP1 RAB3A
6	positive regulation of autophagosome assembly	GO:2000786	9.46	RAB3GAP2 RAB3GAP1
7	positive regulation of regulated secretory pathway	GO:1903307	9.43	RAB3D RAB3A
8	positive regulation of endoplasmic reticulum tubular network organization	GO:1903373	9.4	RAB3GAP2 RAB3GAP1
9	positive regulation of protein lipidation	GO:1903061	9.37	RAB3GAP2 RAB3GAP1
10	lipid droplet organization	GO:0034389	9.33	TBC1D20 RAB3GAP1 RAB18
11	establishment of protein localization to endoplasmic reticulum membrane	GO:0097051	9.26	RAB3GAP2 RAB3GAP1
12	Rab protein signal transduction	GO:0032482	9.26	RAB3D RAB3A RAB2A RAB18
13	intracellular protein transport	GO:0006886	9.1	TBC1D1 RAB3GAP2 RAB3D RAB3A RAB2A RAB18

Molecular functions related to Warburg Micro Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleotide binding	GO:0000166	9.87	TYRO3 STK38L RAB3D RAB3A RAB2A RAB18
2	GTP binding	GO:0005525	9.67	RAB3D RAB3A RAB2A RAB18
3	GTPase activity	GO:0003924	9.46	RAB3D RAB3A RAB2A RAB18
4	Rab guanyl-nucleotide exchange factor activity	GO:0017112	9.43	RAB3GAP2 RAB3GAP1
5	GTP-dependent protein binding	GO:0030742	9.4	RAB3D RAB3A
6	myosin V binding	GO:0031489	9.26	RAB3D RAB3A
7	Rab GTPase binding	GO:0017137	9.26	TBC1D20 TBC1D1 RAB3GAP2 RAB3GAP1
8	GTPase activator activity	GO:0005096	9.02	TBC1D20 TBC1D1 RAB3GAP2 RAB3GAP1 AGFG1

Sources

Sources for Warburg Micro Syndrome 2

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 GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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 MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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 TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Warburg Micro Syndrome 2 (WARBM2)

Aliases & Classifications for Warburg Micro Syndrome 2

MalaCards integrated aliases for Warburg Micro Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Warburg Micro Syndrome 2

Related Diseases for Warburg Micro Syndrome 2

Diseases in the Warburg Micro Syndrome family:

Diseases related to Warburg Micro Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Warburg Micro Syndrome 2:

Symptoms & Phenotypes for Warburg Micro Syndrome 2

Human phenotypes related to Warburg Micro Syndrome 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Warburg Micro Syndrome 2:

Drugs & Therapeutics for Warburg Micro Syndrome 2

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Genetic tests related to Warburg Micro Syndrome 2:

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Genes related to Warburg Micro Syndrome 2 (1 elite genes):

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Pathways related to Warburg Micro Syndrome 2 according to GeneCards Suite gene sharing:

GO Terms for Warburg Micro Syndrome 2

Cellular components related to Warburg Micro Syndrome 2 according to GeneCards Suite gene sharing:

Biological processes related to Warburg Micro Syndrome 2 according to GeneCards Suite gene sharing:

Molecular functions related to Warburg Micro Syndrome 2 according to GeneCards Suite gene sharing:

Sources for Warburg Micro Syndrome 2