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 ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Micro Syndrome 2 ⁵⁷ ¹² ⁷²

Warbm2 ⁵⁷ ¹² ⁷²

Warburg Micro Syndrome, Type 2 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

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® ⁵⁷ 614225

OMIM Phenotypic Series ⁵⁷ PS600118

MeSH ⁴⁴ D000015

ICD10 ³² Q87.0

MedGen ⁴¹ C3280214

UMLS ⁷⁰ C3280214

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Summaries for Warburg Micro Syndrome 2

UniProtKB/Swiss-Prot : ⁷² 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 lens disease. 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 eye and 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:

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	spastic cerebral palsy	10.0	TBC1D20 RAB3GAP2 RAB3GAP1
2	lens disease	9.9	TBC1D20 RAB3GAP2 RAB3GAP1
3	rab18 deficiency	9.9	TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
4	spastic diplegia	9.9	TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
5	warburg micro syndrome 4	9.7	TBC1D20 RAB3GAP2 RAB3GAP1 RAB2A RAB18
6	microphthalmia	9.6	TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
7	griscelli syndrome	9.5	RAB3A RAB18 AGFG1
8	warburg micro syndrome	9.4	ZNF718 TBC1D20 RAB3GAP2 RAB3GAP1 RAB3A RAB2A
9	martsolf syndrome	9.3	TBC1D20 RAB3GAP2 RAB3GAP1 RAB3D RAB3A RAB18
10	warburg micro syndrome 1	9.0	ZNF718 ZNF595 TBC1D20 RAB3GAP2 RAB3GAP1 RAB3D
11	warburg micro syndrome 3	7.4	ZNF718 ZNF595 TBC1D20 TBC1D1 STK38L RAB3GAP2

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®:

⁵⁷ (Updated 20-May-2021)

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 (Updated 20-May-2021)

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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

Eye, 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 ⁵⁷	Handley MT...Aligianis IA	23420520	2013
2	A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. ⁶ ⁵⁷	Borck G...Kubisch C	20967465	2011
3	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 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RAB3GAP2	RAB3 GTPase Activating Non-Catalytic Protein Subunit 2	Protein Coding	1053.67	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23420520
2	TBC1D20	TBC1 Domain Family Member 20	Protein Coding	8.38	DISEASES inferred ¹⁵
3	RAB3GAP1	RAB3 GTPase Activating Protein Catalytic Subunit 1	Protein Coding	8.14	DISEASES inferred ¹⁵
4	RAB18	RAB18, Member RAS Oncogene Family	Protein Coding	8.06	DISEASES inferred ¹⁵
5	RAB2A	RAB2A, Member RAS Oncogene Family	Protein Coding	6.26	DISEASES inferred ¹⁵
6	ZNF718	Zinc Finger Protein 718	Protein Coding	6.25	DISEASES inferred ¹⁵
7	TBC1D1	TBC1 Domain Family Member 1	Protein Coding	6.08	DISEASES inferred ¹⁵
8	ZNF595	Zinc Finger Protein 595	Protein Coding	5.82	DISEASES inferred ¹⁵
9	RAB3A	RAB3A, Member RAS Oncogene Family	Protein Coding	5.36	DISEASES inferred ¹⁵
10	HACD1	3-Hydroxyacyl-CoA Dehydratase 1	Protein Coding	5.28	DISEASES inferred ¹⁵
11	STK38L	Serine/Threonine Kinase 38 Like	Protein Coding	5.15	DISEASES inferred ¹⁵
12	RAB3D	RAB3D, Member RAS Oncogene Family	Protein Coding	4.93	DISEASES inferred ¹⁵
13	AGFG1	ArfGAP With FG Repeats 1	Protein Coding	4	DISEASES inferred ¹⁵
14	PRNP	Prion Protein	Protein Coding	3.32	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 187)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter)	SNV	Pathogenic	100788	rs587777168	GRCh37: 1:220364463-220364463 GRCh38: 1:220191121-220191121
2	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter)	SNV	Pathogenic	100789	rs587777169	GRCh37: 1:220327318-220327318 GRCh38: 1:220153976-220153976
3	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter)	SNV	Pathogenic	100790	rs587777170	GRCh37: 1:220340637-220340637 GRCh38: 1:220167295-220167295
4	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs)	Duplication	Pathogenic	436479	rs1553275687	GRCh37: 1:220356064-220356065 GRCh38: 1:220182722-220182723
5	RAB3GAP2	NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del)	Deletion	Pathogenic	30782	rs1553278569	GRCh37: 1:220384146-220384154 GRCh38: 1:220210804-220210812
6	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)	SNV	Pathogenic	100787	rs587777167	GRCh37: 1:220364621-220364621 GRCh38: 1:220191279-220191279
7	RAB3GAP2	NM_012414.4(RAB3GAP2):c.713-2A>G	SNV	Likely pathogenic	208607	rs797045103	GRCh37: 1:220375718-220375718 GRCh38: 1:220202376-220202376
8	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)	SNV	Conflicting interpretations of pathogenicity	235683	rs139337049	GRCh37: 1:220355619-220355619 GRCh38: 1:220182277-220182277
9	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile)	SNV	Uncertain significance	463031	rs778851334	GRCh37: 1:220326589-220326589 GRCh38: 1:220153247-220153247
10	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val)	SNV	Uncertain significance	295644	rs144779240	GRCh37: 1:220338117-220338117 GRCh38: 1:220164775-220164775
11	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1511T>C (p.Ile504Thr)	SNV	Uncertain significance	463027	rs1553276414	GRCh37: 1:220363839-220363839 GRCh38: 1:220190497-220190497
12	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys)	SNV	Uncertain significance	463026	rs188522997	GRCh37: 1:220366594-220366594 GRCh38: 1:220193252-220193252
13	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*108T>A	SNV	Uncertain significance	295637	rs886046016	GRCh37: 1:220324485-220324485 GRCh38: 1:220151143-220151143
14	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1131-4T>C	SNV	Uncertain significance	295663	rs752780415	GRCh37: 1:220366725-220366725 GRCh38: 1:220193383-220193383
15	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*2518A>G	SNV	Uncertain significance	295607	rs528100310	GRCh37: 1:220322075-220322075 GRCh38: 1:220148733-220148733
16	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1069G>A (p.Glu357Lys)	SNV	Uncertain significance	295664	rs779972563	GRCh37: 1:220368481-220368481 GRCh38: 1:220195139-220195139
17	RAB3GAP2	NM_012414.4(RAB3GAP2):c.46G>A (p.Ala16Thr)	SNV	Uncertain significance	295672	rs201514595	GRCh37: 1:220445634-220445634 GRCh38: 1:220272292-220272292
18	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*1143A>G	SNV	Uncertain significance	295628	rs865932881	GRCh37: 1:220323450-220323450 GRCh38: 1:220150108-220150108
19	RAB3GAP2	NM_012414.4(RAB3GAP2):c.-87A>G	SNV	Uncertain significance	295677	rs576041163	GRCh37: 1:220445766-220445766 GRCh38: 1:220272424-220272424
20	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3978G>T (p.Glu1326Asp)	SNV	Uncertain significance	295638	rs886046017	GRCh37: 1:220324996-220324996 GRCh38: 1:220151654-220151654
21	RAB3GAP2	NM_012414.4(RAB3GAP2):c.-48A>G	SNV	Uncertain significance	295674	rs767297724	GRCh37: 1:220445727-220445727 GRCh38: 1:220272385-220272385
22	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3867+13C>T	SNV	Uncertain significance	295640	rs200579008	GRCh37: 1:220326514-220326514 GRCh38: 1:220153172-220153172
23	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*2450G>T	SNV	Uncertain significance	295611	rs568052992	GRCh37: 1:220322143-220322143 GRCh38: 1:220148801-220148801
24	RAB3GAP2	NM_012414.4(RAB3GAP2):c.383A>C (p.Glu128Ala)	SNV	Uncertain significance	295670	rs886046024	GRCh37: 1:220386232-220386232 GRCh38: 1:220212890-220212890
25	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*1335C>T	SNV	Uncertain significance	295624	rs747221160	GRCh37: 1:220323258-220323258 GRCh38: 1:220149916-220149916
26	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val)	SNV	Uncertain significance	295644	rs144779240	GRCh37: 1:220338117-220338117 GRCh38: 1:220164775-220164775
27	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1600A>G (p.Thr534Ala)	SNV	Uncertain significance	295658	rs886046021	GRCh37: 1:220363750-220363750 GRCh38: 1:220190408-220190408
28	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1277G>A (p.Arg426His)	SNV	Uncertain significance	295660	rs769450409	GRCh37: 1:220364620-220364620 GRCh38: 1:220191278-220191278
29	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2454C>G (p.Ser818=)	SNV	Uncertain significance	295649	rs886046020	GRCh37: 1:220345354-220345354 GRCh38: 1:220172012-220172012
30	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*2347T>C	SNV	Uncertain significance	295613	rs886046010	GRCh37: 1:220322246-220322246 GRCh38: 1:220148904-220148904
31	RAB3GAP2	NM_012414.4(RAB3GAP2):c.-86T>C	SNV	Uncertain significance	295676	rs535968000	GRCh37: 1:220445765-220445765 GRCh38: 1:220272423-220272423
32	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=)	SNV	Uncertain significance	295647	rs368216093	GRCh37: 1:220345270-220345270 GRCh38: 1:220171928-220171928
33	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1159G>A (p.Gly387Ser)	SNV	Uncertain significance	295662	rs886046023	GRCh37: 1:220366693-220366693 GRCh38: 1:220193351-220193351
34	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=)	SNV	Uncertain significance	295642	rs140377995	GRCh37: 1:220330777-220330777 GRCh38: 1:220157435-220157435
35	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)	SNV	Uncertain significance	235683	rs139337049	GRCh37: 1:220355619-220355619 GRCh38: 1:220182277-220182277
36	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*537G>C	SNV	Uncertain significance	295634	rs886046015	GRCh37: 1:220324056-220324056 GRCh38: 1:220150714-220150714
37	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu)	SNV	Uncertain significance	295652	rs150643803	GRCh37: 1:220356104-220356104 GRCh38: 1:220182762-220182762
38	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*2643T>C	SNV	Uncertain significance	295604	rs886046007	GRCh37: 1:220321950-220321950 GRCh38: 1:220148608-220148608
39	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1419A>G (p.Gly473=)	SNV	Uncertain significance	295659	rs886046022	GRCh37: 1:220364478-220364478 GRCh38: 1:220191136-220191136
40	RAB3GAP2	NM_012414.4(RAB3GAP2):c.3868-8A>G	SNV	Uncertain significance	295639	rs886046018	GRCh37: 1:220325114-220325114 GRCh38: 1:220151772-220151772
41	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro)	SNV	Uncertain significance	295655	rs147587414	GRCh37: 1:220357416-220357416 GRCh38: 1:220184074-220184074
42	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2771G>A (p.Arg924Lys)	SNV	Uncertain significance	295646	rs758604254	GRCh37: 1:220344269-220344269 GRCh38: 1:220170927-220170927
43	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*2102C>A	SNV	Uncertain significance	295617	rs149913096	GRCh37: 1:220322491-220322491 GRCh38: 1:220149149-220149149
44	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2527G>A (p.Val843Ile)	SNV	Uncertain significance	295648	rs753147106	GRCh37: 1:220345281-220345281 GRCh38: 1:220171939-220171939
45	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2027A>G (p.Glu676Gly)	SNV	Uncertain significance	295653	rs774771619	GRCh37: 1:220356245-220356245 GRCh38: 1:220182903-220182903
46	RAB3GAP2	NM_012414.4(RAB3GAP2):c.612+15T>C	SNV	Uncertain significance	295669	rs777576498	GRCh37: 1:220383715-220383715 GRCh38: 1:220210373-220210373
47	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*1453T>G	SNV	Uncertain significance	295623	rs146743192	GRCh37: 1:220323140-220323140 GRCh38: 1:220149798-220149798
48	RAB3GAP2	NM_012414.4(RAB3GAP2):c.1891G>A (p.Gly631Arg)	SNV	Uncertain significance	295656	rs761157075	GRCh37: 1:220357485-220357485 GRCh38: 1:220184143-220184143
49	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*1470G>A	SNV	Uncertain significance	295622	rs555263194	GRCh37: 1:220323123-220323123 GRCh38: 1:220149781-220149781
50	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*2769G>T	SNV	Uncertain significance	295603	rs886046006	GRCh37: 1:220321824-220321824 GRCh38: 1:220148482-220148482

Sources

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	12.91	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	12.46	RAB3D RAB3A RAB2A RAB18
3	Autophagy Pathway ⁶⁶	11.91	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	cytosol	GO:0005829	9.81	TBC1D1 STK38L RAB3GAP2 RAB3GAP1 RAB3A RAB2A
2	terminal bouton	GO:0043195	9.26	RAB3A PRNP
3	endoplasmic reticulum membrane	GO:0005789	9.1	TBC1D20 RAB3GAP2 RAB3GAP1 RAB2A RAB18 HACD1
4	endoplasmic reticulum tubular network	GO:0071782	8.96	RAB3GAP1 RAB18

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein transport	GO:0015031	9.83	RAB3D RAB3A RAB2A RAB18
2	positive regulation of GTPase activity	GO:0043547	9.55	TBC1D20 TBC1D1 RAB3GAP2 RAB3GAP1 AGFG1
3	protein secretion	GO:0009306	9.54	RAB3D RAB3A
4	regulation of cilium assembly	GO:1902017	9.51	TBC1D20 TBC1D1
5	regulation of exocytosis	GO:0017157	9.49	RAB3D RAB3A
6	vesicle docking involved in exocytosis	GO:0006904	9.48	RAB3D RAB3A
7	regulation of short-term neuronal synaptic plasticity	GO:0048172	9.46	RAB3GAP1 RAB3A
8	positive regulation of autophagosome assembly	GO:2000786	9.43	RAB3GAP2 RAB3GAP1
9	positive regulation of regulated secretory pathway	GO:1903307	9.4	RAB3D RAB3A
10	positive regulation of endoplasmic reticulum tubular network organization	GO:1903373	9.37	RAB3GAP2 RAB3GAP1
11	intracellular protein transport	GO:0006886	9.35	TBC1D1 RAB3GAP2 RAB3D RAB3A RAB18
12	positive regulation of protein lipidation	GO:1903061	9.32	RAB3GAP2 RAB3GAP1
13	establishment of protein localization to endoplasmic reticulum membrane	GO:0097051	9.26	RAB3GAP2 RAB3GAP1
14	lipid droplet organization	GO:0034389	8.8	TBC1D20 RAB3GAP1 RAB18

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

#	Name	GO ID	Score	Top Affiliating Genes
1	GTP binding	GO:0005525	9.62	RAB3D RAB3A RAB2A RAB18
2	GTPase activity	GO:0003924	9.46	RAB3D RAB3A RAB2A RAB18
3	GTP-dependent protein binding	GO:0030742	9.37	RAB3D RAB3A
4	myosin V binding	GO:0031489	9.26	RAB3D RAB3A
5	small GTPase binding	GO:0031267	9.26	TBC1D20 TBC1D1 RAB3GAP2 RAB3GAP1
6	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 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 20-May-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

Warburg Micro Syndrome 2 (WARBM2)

Aliases & Classifications for Warburg Micro Syndrome 2

MalaCards integrated aliases for Warburg Micro Syndrome 2:

Characteristics:

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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

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Symptoms via clinical synopsis from OMIM®:

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