WARBM
MCID: WRB001
MIFTS: 41

Warburg Micro Syndrome (WARBM)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Warburg Micro Syndrome

MalaCards integrated aliases for Warburg Micro Syndrome:

Name: Warburg Micro Syndrome 12 36 29 6 15
Warburg Sjo Fledelius Syndrome 44 70
Warburg-Sjo-Fledelius Syndrome 12
Micro Syndrome 12
Warbm 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060237
KEGG 36 H00792
MeSH 44 C536681
SNOMED-CT 67 772224009
UMLS 70 C1838625

Summaries for Warburg Micro Syndrome

KEGG : 36 Warburg micro syndrome (WARBM) is a rare, autosomal recessive condition characterized by congenital microcephaly, mental retardation, microcornea, cataracts, hypotonic diplegia and hypothalamic hypogonadism. The neurological manifestations including corpus callosum hypoplasia, cortical dystrophy, and microphthalmia are severe in Warburg micro syndrome.

MalaCards based summary : Warburg Micro Syndrome, also known as warburg sjo fledelius syndrome, is related to warburg micro syndrome 4 and rab18 deficiency. An important gene associated with Warburg Micro Syndrome is RAB3GAP1 (RAB3 GTPase Activating Protein Catalytic Subunit 1), and among its related pathways/superpathways are Metabolism of proteins and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include eye and cortex, and related phenotypes are Decreased CXCL12 induced migration and nervous system

Disease Ontology : 12 A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.

Wikipedia : 73 Warburg Micro syndrome (WARBM), also known as Micro syndrome, is a rare autosomal recessive genetic... more...

Related Diseases for Warburg Micro Syndrome

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 4 33.0 TBC1D20 RAB3GAP2 RAB3GAP1 RAB2A RAB18
2 rab18 deficiency 32.8 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
3 warburg micro syndrome 3 32.8 TBC1D20 RAB3GAP2 RAB3GAP1 RAB3A RAB2A RAB18
4 warburg micro syndrome 2 32.7 TBC1D20 RAB3GAP2 RAB3GAP1 RAB3A RAB2A RAB18
5 warburg micro syndrome 1 32.7 ZRANB3 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1 RAB2A
6 martsolf syndrome 31.7 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1 RAB3A RAB18
7 microphthalmia 30.6 TBC1D20 RAB3GAP2 RAB3GAP1 RAB27A RAB18
8 spastic diplegia 30.5 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
9 microcephaly 10.5
10 cataract 10.5
11 autosomal recessive disease 10.5
12 3-methylglutaconic aciduria, type iii 10.3
13 hypogonadism 10.3
14 alacrima, achalasia, and mental retardation syndrome 10.3
15 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 10.3 RAB7B RAB7A
16 spastic cerebral palsy 10.2 TBC1D20 RAB3GAP2 RAB3GAP1
17 leukodystrophy, hypomyelinating, 12 10.2 RAB7B RAB7A
18 lens disease 10.2 TBC1D20 RAB3GAP2 RAB3GAP1
19 neuropathy 10.2
20 hypotonia 10.2
21 neuropathy, hereditary sensory, type id 10.2 RAB7B RAB7A
22 charcot-marie-tooth disease, axonal, type 2l 10.2 RAB7B RAB7A
23 charcot-marie-tooth disease, dominant intermediate b 10.2 RAB7B RAB7A
24 hereditary motor and sensory neuropathy, type iic 10.2 RAB7B RAB7A
25 charcot-marie-tooth disease, axonal, type 2b 10.1 RAB7B RAB7A
26 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
27 peripheral nervous system disease 10.1
28 polymicrogyria 10.1
29 spasticity 10.1
30 cataract 8, multiple types 10.1 RAB7B RAB7A
31 choroideremia 10.1 RAB7A RAB3A RAB27A
32 charcot-marie-tooth disease, type 4j 10.0 RAB7B RAB7A
33 hypotrichosis 3 10.0 RAB35 RAB1B
34 neuropathy, congenital hypomyelinating, 1, autosomal recessive 10.0 RAB7B RAB7A RAB3GAP1 RAB32
35 atrial standstill 1 10.0
36 nondisjunction 10.0
37 cryptorchidism, unilateral or bilateral 10.0
38 ataxia and polyneuropathy, adult-onset 10.0
39 chromosome 1p36 deletion syndrome 10.0
40 ptosis 10.0
41 charcot-marie-tooth disease 10.0
42 male infertility 10.0
43 polyneuropathy 10.0
44 sensory peripheral neuropathy 10.0
45 cutis laxa 10.0
46 hypertrichosis 10.0
47 infertility 10.0
48 rubella 10.0
49 toxoplasmosis 10.0
50 hypermobile ehlers-danlos syndrome 10.0

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



Diseases related to Warburg Micro Syndrome

Symptoms & Phenotypes for Warburg Micro Syndrome

GenomeRNAi Phenotypes related to Warburg Micro Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased CXCL12 induced migration GR00141-A 8.62 RAB27A RAB3A

MGI Mouse Phenotypes related to Warburg Micro Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.73 RAB10 RAB18 RAB23 RAB27A RAB32 RAB35
2 vision/eye MP:0005391 9.32 RAB10 RAB18 RAB23 RAB27A RAB32 RAB35

Drugs & Therapeutics for Warburg Micro Syndrome

Search Clinical Trials , NIH Clinical Center for Warburg Micro Syndrome

Cochrane evidence based reviews: warburg sjo fledelius syndrome

Genetic Tests for Warburg Micro Syndrome

Genetic tests related to Warburg Micro Syndrome:

# Genetic test Affiliating Genes
1 Warburg Micro Syndrome 29

Anatomical Context for Warburg Micro Syndrome

MalaCards organs/tissues related to Warburg Micro Syndrome:

40
Eye, Cortex

Publications for Warburg Micro Syndrome

Articles related to Warburg Micro Syndrome:

(show all 50)
# Title Authors PMID Year
1
A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report. 61
33466118 2021
2
The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I. 61
32248620 2021
3
[Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene]. 61
33306828 2020
4
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. 61
32376645 2020
5
Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. 61
32162791 2020
6
Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria. 61
32477580 2020
7
Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping. 61
32599602 2020
8
Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B. 61
30721447 2019
9
Rab18: new insights into the function of an essential protein. 61
30830238 2019
10
[Warburg-Micro syndrome caused by 1q43-q44 deletion: genotypic and phenotypic analysis in a child]. 61
30022763 2018
11
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? 61
29419336 2018
12
RAB18 Deficiency 61
29300443 2018
13
Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters. 61
29675078 2017
14
Neuronal vacuolation and spinocerebellar degeneration associated with altered neurotransmission. 61
28677370 2017
15
TBC1D20 mediates autophagy as a key regulator of autophagosome maturation. 61
27487390 2016
16
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease. 61
27256633 2016
17
Consanguinity as an Adjunct Diagnostic Tool. 61
26138576 2016
18
Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome. 61
26421802 2016
19
RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex. 61
26879639 2016
20
A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. 61
26607784 2016
21
Warburg micro syndrome in siblings from India. 61
27195044 2016
22
Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy. 61
27764520 2016
23
A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). 61
26596647 2015
24
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. 61
26063829 2015
25
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. 61
25792360 2015
26
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. 61
25899426 2015
27
ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18. 61
25779931 2015
28
RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION. 61
26852512 2015
29
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. 61
27081543 2015
30
Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice. 61
25476608 2014
31
The association of RAB18 gene polymorphism (rs3765133) with cerebellar volume in healthy adults. 61
24996981 2014
32
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1. 61
25332050 2014
33
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome. 61
25077174 2014
34
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton. 61
24764192 2014
35
Rab18 and a Rab18 GEF complex are required for normal ER structure. 61
24891604 2014
36
Genetic disorders associated with postnatal microcephaly. 61
24839169 2014
37
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. 61
24239381 2013
38
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 61
23420520 2013
39
Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion. 61
23124039 2013
40
Warburg micro syndrome in two children from a highly inbred Turkish family. 61
22876574 2012
41
Warburg Micro syndrome. 61
22768674 2012
42
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. 61
21473985 2011
43
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. 61
20967465 2011
44
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. 61
20512159 2010
45
Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders. 61
18463892 2008
46
Analysis on the emerging role of Rab3 GTPase-activating protein in Warburg Micro and Martsolf syndrome. 61
18413245 2008
47
Warburg Micro syndrome in a Turkish boy. 61
17351351 2007
48
Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3. 61
16782817 2006
49
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. 61
16532399 2006
50
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. 61
15696165 2005

Variations for Warburg Micro Syndrome

ClinVar genetic disease variations for Warburg Micro Syndrome:

6 (show all 41)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAB3GAP2 NM_012414.3(RAB3GAP2):c.*2971_*2974dupAACA Duplication Uncertain significance 295601 rs529035209 GRCh37: 1:220321618-220321619
GRCh38: 1:220148276-220148277
2 RAB3GAP1 NM_012233.3(RAB3GAP1):c.393C>T (p.Ala131=) SNV Uncertain significance 331120 rs779596900 GRCh37: 2:135870751-135870751
GRCh38: 2:135113181-135113181
3 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2416+8_2416+9del Deletion Uncertain significance 295650 rs769425345 GRCh37: 1:220345970-220345971
GRCh38: 1:220172628-220172629
4 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1999-26GTTTT[2] Microsatellite Uncertain significance 295654 rs764326258 GRCh37: 1:220356285-220356289
GRCh38: 1:220182943-220182947
5 RAB3GAP2 NM_012414.4(RAB3GAP2):c.613-24dup Duplication Uncertain significance 295667 rs572027376 GRCh37: 1:220379361-220379362
GRCh38: 1:220206019-220206020
6 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2210G>C SNV Uncertain significance 295616 rs886046012 GRCh37: 1:220322383-220322383
GRCh38: 1:220149041-220149041
7 RAB18 NM_021252.5(RAB18):c.*150C>T SNV Uncertain significance 299824 rs768390542 GRCh37: 10:27827130-27827130
GRCh38: 10:27538201-27538201
8 RAB3GAP1 , ZRANB3 NM_012233.3(RAB3GAP1):c.*283C>T SNV Uncertain significance 331138 rs765003230 GRCh37: 2:135926634-135926634
GRCh38: 2:135169064-135169064
9 RAB18 NM_021252.5(RAB18):c.*16A>G SNV Uncertain significance 299821 rs886046968 GRCh37: 10:27826996-27826996
GRCh38: 10:27538067-27538067
10 RAB18 NM_021252.5(RAB18):c.*3046_*3047dup Duplication Uncertain significance 299864 rs886046976 GRCh37: 10:27830022-27830023
GRCh38: 10:27541093-27541094
11 RAB3GAP1 , ZRANB3 NM_012233.3(RAB3GAP1):c.*1208dup Duplication Uncertain significance 331147 rs200869351 GRCh37: 2:135927544-135927545
GRCh38: 2:135169974-135169975
12 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2512del Deletion Uncertain significance 295609 rs143756119 GRCh37: 1:220322081-220322081
GRCh38: 1:220148739-220148739
13 RAB3GAP1 , ZRANB3 NM_012233.3(RAB3GAP1):c.*985dup Duplication Uncertain significance 331144 rs370069043 GRCh37: 2:135927329-135927330
GRCh38: 2:135169759-135169760
14 RAB3GAP2 NM_012414.3(RAB3GAP2):c.-132G>A SNV Uncertain significance 295678 rs572492875 GRCh37: 1:220445811-220445811
GRCh38: 1:220272469-220272469
15 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*798_*799dup Duplication Uncertain significance 295632 rs35147354 GRCh37: 1:220323793-220323794
GRCh38: 1:220150451-220150452
16 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2392_*2395dup Duplication Uncertain significance 295612 rs552063647 GRCh37: 1:220322197-220322198
GRCh38: 1:220148855-220148856
17 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*1145del Deletion Uncertain significance 295626 rs886046014 GRCh37: 1:220323448-220323448
GRCh38: 1:220150106-220150106
18 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2551_*2552del Deletion Uncertain significance 295605 rs886046008 GRCh37: 1:220322041-220322042
GRCh38: 1:220148699-220148700
19 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*374T>G SNV Uncertain significance 295636 rs765864531 GRCh37: 1:220324219-220324219
GRCh38: 1:220150877-220150877
20 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2090_*2093AAAT[2] Microsatellite Uncertain significance 295618 rs886046013 GRCh37: 1:220322492-220322495
GRCh38: 1:220149150-220149153
21 RAB18 NM_021252.5(RAB18):c.*3701_*3704GACT[1] Microsatellite Uncertain significance 299877 rs759695566 GRCh37: 10:27830680-27830683
GRCh38: 10:27541751-27541754
22 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*799dup Duplication Uncertain significance 295631 rs35147354 GRCh37: 1:220323793-220323794
GRCh38: 1:220150451-220150452
23 RAB3GAP2 NM_012414.4(RAB3GAP2):c.-78C>T SNV Uncertain significance 295675 rs557235116 GRCh37: 1:220445757-220445757
GRCh38: 1:220272415-220272415
24 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3829G>C (p.Glu1277Gln) SNV Uncertain significance 295641 rs886046019 GRCh37: 1:220326565-220326565
GRCh38: 1:220153223-220153223
25 RAB18 NM_021252.5(RAB18):c.*3293del Deletion Uncertain significance 299869 rs573606717 GRCh37: 10:27830273-27830273
GRCh38: 10:27541344-27541344
26 RAB18 NM_021252.5(RAB18):c.*3599dup Duplication Uncertain significance 299875 rs779470678 GRCh37: 10:27830577-27830578
GRCh38: 10:27541648-27541649
27 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*1144del Deletion Uncertain significance 295627 rs11316594 GRCh37: 1:220323449-220323449
GRCh38: 1:220150107-220150107
28 RAB18 NM_021252.5(RAB18):c.*2030G>T SNV Uncertain significance 299852 rs750141100 GRCh37: 10:27829010-27829010
GRCh38: 10:27540081-27540081
29 RAB3GAP2 NM_012414.4(RAB3GAP2):c.613-14del Deletion Uncertain significance 295668 rs572027376 GRCh37: 1:220379362-220379362
GRCh38: 1:220206020-220206020
30 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2338_*2339del Deletion Uncertain significance 295614 rs886046011 GRCh37: 1:220322254-220322255
GRCh38: 1:220148912-220148913
31 RAB3GAP1 , ZRANB3 NM_001172435.1(RAB3GAP1):c.*1941G>T SNV Likely benign 369310 rs2305247 GRCh37: 2:135928292-135928292
GRCh38: 2:135170722-135170722
32 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2512dup Duplication Likely benign 295608 rs143756119 GRCh37: 1:220322080-220322081
GRCh38: 1:220148738-220148739
33 RAB3GAP1 NM_012233.2(RAB3GAP1):c.-53C>G SNV Likely benign 130060 rs78560065 GRCh37: 2:135809825-135809825
GRCh38: 2:135052255-135052255
34 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*1694_*1695insACA Insertion Likely benign 295620 rs143194915 GRCh37: 1:220322898-220322899
GRCh38: 1:220149556-220149557
35 RAB18 NM_021252.5(RAB18):c.260-7dup Duplication Benign 299816 rs142609338 GRCh37: 10:27822656-27822657
GRCh38: 10:27533727-27533728
36 RAB3GAP2 NM_012414.4(RAB3GAP2):c.812-6del Deletion Benign 295665 rs35396665 GRCh37: 1:220369746-220369746
GRCh38: 1:220196404-220196404
37 RAB3GAP1 NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) SNV Benign 130067 rs17261772 GRCh37: 2:135911422-135911422
GRCh38: 2:135153852-135153852
38 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2920_*2922CTT[1] Microsatellite Benign 295602 rs3217443 GRCh37: 1:220321668-220321670
GRCh38: 1:220148326-220148328
39 RAB18 NM_021252.5(RAB18):c.*3803_*3804insT Insertion Benign 299879 rs3832657 GRCh37: 10:27830783-27830784
GRCh38: 10:27541854-27541855
40 RAB3GAP1 , ZRANB3 NM_012233.3(RAB3GAP1):c.*1208del Deletion Benign 331148 rs200869351 GRCh37: 2:135927545-135927545
GRCh38: 2:135169975-135169975
41 RAB3GAP1 , ZRANB3 NM_012233.3(RAB3GAP1):c.*261dup Duplication Benign 331137 rs143703110 GRCh37: 2:135926606-135926607
GRCh38: 2:135169036-135169037

Copy number variations for Warburg Micro Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 136909 2 134800000 136600000 Copy number RAB3GAP1 Warburg Micro syndrome

Expression for Warburg Micro Syndrome

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

Pathways for Warburg Micro Syndrome

GO Terms for Warburg Micro Syndrome

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.49 TBC1D20 RAB7B RAB7A RAB3A RAB39B RAB38
2 cytosol GO:0005829 10.37 RABGAP1 RAB7A RAB3GAP2 RAB3GAP1 RAB3A RAB38
3 extracellular exosome GO:0070062 10.21 RAB7A RAB3GAP1 RAB35 RAB2A RAB27A RAB21
4 endoplasmic reticulum membrane GO:0005789 10.14 TBC1D20 RAB3GAP2 RAB3GAP1 RAB2A RAB21 RAB1B
5 Golgi membrane GO:0000139 10.04 RAB39B RAB2A RAB26 RAB21 RAB1B RAB10
6 endosome GO:0005768 10.02 RAB7B RAB7A RAB3A RAB35 RAB27A RAB26
7 lysosome GO:0005764 9.97 RAB7B RAB7A RAB3A RAB38 RAB27A
8 endosome membrane GO:0010008 9.95 RAB7A RAB35 RAB23 RAB21 RAB10
9 Golgi apparatus GO:0005794 9.93 RAB7B RAB3GAP1 RAB39B RAB38 RAB32 RAB2A
10 trans-Golgi network GO:0005802 9.91 RAB7B RAB38 RAB32 RAB21 RAB10
11 endomembrane system GO:0012505 9.88 RAB38 RAB32 RAB23 RAB21 RAB1B RAB18
12 melanosome GO:0042470 9.85 RAB38 RAB35 RAB32 RAB2A RAB27A
13 phagocytic vesicle GO:0045335 9.83 RAB7B RAB7A RAB38 RAB32 RAB23
14 late endosome GO:0005770 9.79 RAB7B RAB7A RAB27A
15 lipid droplet GO:0005811 9.77 RAB7A RAB3GAP1 RAB18
16 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.77 TBC1D20 RAB2A RAB1B
17 secretory granule membrane GO:0030667 9.73 RAB7A RAB3A RAB27A RAB26 RAB18 RAB10
18 endoplasmic reticulum tubular network GO:0071782 9.7 RAB3GAP1 RAB18 RAB10
19 anchored component of synaptic vesicle membrane GO:0098993 9.65 RAB3A RAB35 RAB26
20 exocytic vesicle GO:0070382 9.62 RAB27A RAB10
21 melanosome membrane GO:0033162 9.62 RAB7A RAB38 RAB32 RAB27A
22 Mitochondria-associated ER Membrane GO:0044233 9.61 RAB38 RAB32
23 early endosome lumen GO:0031905 9.56 RAB38 RAB32
24 phagocytic vesicle membrane GO:0030670 9.43 RAB7B RAB7A RAB38 RAB32 RAB23 RAB10
25 cytoplasmic vesicle GO:0031410 9.36 RAB7B RAB7A RAB3A RAB39B RAB38 RAB35

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.96 RAB7A RAB3A RAB27A RAB18 RAB10
2 positive regulation of GTPase activity GO:0043547 9.93 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1
3 post-translational protein modification GO:0043687 9.93 RAB3A RAB38 RAB2A RAB1B
4 vesicle-mediated transport GO:0016192 9.85 RAB39B RAB38 RAB32 RAB2A RAB27A RAB10
5 mitochondrion organization GO:0007005 9.79 RAB3A RAB38 RAB32
6 regulation of GTPase activity GO:0043087 9.78 RABGAP1 RAB3GAP2 RAB3GAP1
7 autophagosome assembly GO:0000045 9.71 RAB7A RAB23 RAB1B
8 phagosome acidification GO:0090383 9.65 RAB7A RAB38
9 positive regulation of exocytosis GO:0045921 9.65 RAB3A RAB27A
10 melanosome organization GO:0032438 9.64 RAB38 RAB32
11 protein localization to membrane GO:0072657 9.64 RAB38 RAB32
12 regulated exocytosis GO:0045055 9.63 RAB3A RAB26 RAB10
13 synaptic vesicle transport GO:0048489 9.62 RAB3A RAB27A
14 antigen processing and presentation GO:0019882 9.62 RAB35 RAB32 RAB27A RAB10
15 regulation of short-term neuronal synaptic plasticity GO:0048172 9.61 RAB3GAP1 RAB3A
16 lipid droplet organization GO:0034389 9.61 TBC1D20 RAB3GAP1 RAB18
17 intracellular protein transport GO:0006886 9.61 RABGAP1 RAB3GAP2 RAB3A RAB38 RAB32 RAB23
18 virion assembly GO:0019068 9.6 TBC1D20 RAB1B
19 positive regulation of autophagosome assembly GO:2000786 9.59 RAB3GAP2 RAB3GAP1
20 endoplasmic reticulum tubular network organization GO:0071786 9.58 RAB18 RAB10
21 phagosome-lysosome fusion GO:0090385 9.58 RAB7B RAB7A
22 Rab protein signal transduction GO:0032482 9.58 RAB39B RAB35 RAB21
23 endosome to melanosome transport GO:0035646 9.57 RAB38 RAB32
24 regulation of exocytosis GO:0017157 9.56 RAB3A RAB26 RAB21 RAB10
25 phagosome maturation GO:0090382 9.55 RAB7A RAB32
26 positive regulation of regulated secretory pathway GO:1903307 9.52 RAB3A RAB27A
27 melanosome assembly GO:1903232 9.51 RAB38 RAB32
28 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.49 RAB3GAP2 RAB3GAP1
29 positive regulation of protein lipidation GO:1903061 9.48 RAB3GAP2 RAB3GAP1
30 protein transport GO:0015031 9.44 RAB7B RAB7A RAB3A RAB39B RAB38 RAB35
31 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 9.33 RAB3GAP2 RAB3GAP1 RAB10

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.43 ZRANB3 TBC1D20 RABGAP1 RAB7B RAB7A RAB3GAP2
2 nucleotide binding GO:0000166 10.06 ZRANB3 RAB7B RAB7A RAB3A RAB39B RAB38
3 small GTPase binding GO:0031267 9.83 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1
4 GTP binding GO:0005525 9.83 RAB7B RAB7A RAB3A RAB39B RAB38 RAB35
5 GTPase activator activity GO:0005096 9.81 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1
6 GDP binding GO:0019003 9.8 RAB7A RAB35 RAB2A RAB27A RAB21 RAB18
7 myosin V binding GO:0031489 9.62 RAB3A RAB39B RAB27A RAB10
8 GTP-dependent protein binding GO:0030742 9.54 RAB3A RAB38 RAB32
9 GTPase activity GO:0003924 9.5 RAB7B RAB7A RAB3A RAB39B RAB38 RAB35
10 AP-2 adaptor complex binding GO:0035612 9.49 RAB38 RAB32
11 AP-1 adaptor complex binding GO:0035650 9.48 RAB38 RAB32
12 AP-3 adaptor complex binding GO:0035651 9.46 RAB38 RAB32
13 BLOC-2 complex binding GO:0036461 9.4 RAB38 RAB32

Sources for Warburg Micro Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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