WARBM
MCID: WRB001
MIFTS: 40

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 43 71
Warburg-Sjo-Fledelius Syndrome 12
Micro Syndrome 12
Warbm 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060237
KEGG 36 H00792
MeSH 43 C536681
UMLS 71 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 3 and warburg micro syndrome 2. 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 Vesicle-mediated transport. Affiliated tissues include eye and cortex, and related phenotype is Decreased CXCL12 induced migration.

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

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 71)
# Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 3 34.3 TBC1D20 RAB3GAP2 RAB3GAP1 RAB3A RAB2A RAB18
2 warburg micro syndrome 2 34.3 TBC1D20 RAB3GAP2 RAB3GAP1 RAB3A RAB2A RAB18
3 warburg micro syndrome 1 34.2 ZRANB3 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1 RAB2A
4 warburg micro syndrome 4 33.9 TBC1D20 RAB3GAP2 RAB3GAP1 RAB3A RAB2A RAB1B
5 rab18 deficiency 33.7 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
6 martsolf syndrome 33.1 RAB3GAP2 RAB3GAP1 RAB18
7 microphthalmia 30.5 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 10.4
12 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 10.3 RAB7B RAB7A
13 3-methylglutaconic aciduria, type iii 10.3
14 charcot-marie-tooth disease, dominant intermediate b 10.3 RAB7B RAB7A
15 alacrima, achalasia, and mental retardation syndrome 10.3
16 hypogonadism 10.3
17 hypogonadotropism 10.3
18 hereditary motor and sensory neuropathy, type iic 10.3 RAB7B RAB7A
19 irregular astigmatism 10.2 RAB3GAP1 FNDC3B
20 charcot-marie-tooth disease, type 4j 10.2 RAB7B RAB7A
21 spasticity 10.2
22 pontocerebellar hypoplasia, type 2e 10.2 RAB7B RAB7A
23 charcot-marie-tooth disease, axonal, type 2b 10.1 RAB7B RAB7A
24 choroideremia 10.1 RAB7A RAB3A RAB27A
25 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
26 neuropathy 10.1
27 polymicrogyria 10.1
28 hypotonia 10.1
29 cataract 8, multiple types 10.1 RAB7B RAB7A
30 neuropathy, congenital hypomyelinating, 1, autosomal recessive 10.0 RAB7B RAB7A RAB3GAP1 RAB32
31 atrial standstill 1 10.0
32 cryptorchidism, unilateral or bilateral 10.0
33 ataxia and polyneuropathy, adult-onset 10.0
34 chromosome 1p36 deletion syndrome 10.0
35 ptosis 10.0
36 charcot-marie-tooth disease 10.0
37 male infertility 10.0
38 polyneuropathy 10.0
39 sensory peripheral neuropathy 10.0
40 cutis laxa 10.0
41 hypertrichosis 10.0
42 infertility 10.0
43 peripheral nervous system disease 10.0
44 rubella 10.0
45 toxoplasmosis 10.0
46 hypermobile ehlers-danlos syndrome 10.0
47 cerebral atrophy 10.0
48 hypotrichosis 3 9.9 RAB35 RAB1B
49 charcot-marie-tooth disease, demyelinating, type 1c 9.9 RAB7B RAB7A
50 legionnaire disease 9.6 RAB7B RAB7A RAB35 RAB1B

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

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 43)
# Title Authors PMID Year
1
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
2
Rab18: new insights into the function of an essential protein. 61
30830238 2019
3
[Warburg-Micro syndrome caused by 1q43-q44 deletion: genotypic and phenotypic analysis in a child]. 61
30022763 2018
4
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? 61
29419336 2018
5
RAB18 Deficiency 61
29300443 2018
6
Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters. 61
29675078 2017
7
Neuronal vacuolation and spinocerebellar degeneration associated with altered neurotransmission. 61
28677370 2017
8
TBC1D20 mediates autophagy as a key regulator of autophagosome maturation. 61
27487390 2016
9
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease. 61
27256633 2016
10
Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome. 61
26421802 2016
11
Consanguinity as an Adjunct Diagnostic Tool. 61
26138576 2016
12
RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex. 61
26879639 2016
13
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
14
Warburg micro syndrome in siblings from India. 61
27195044 2016
15
Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy. 61
27764520 2016
16
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
17
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. 61
26063829 2015
18
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. 61
25792360 2015
19
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. 61
25899426 2015
20
ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18. 61
25779931 2015
21
RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION. 61
26852512 2015
22
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. 61
27081543 2015
23
Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice. 61
25476608 2014
24
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1. 61
25332050 2014
25
The association of RAB18 gene polymorphism (rs3765133) with cerebellar volume in healthy adults. 61
24996981 2014
26
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
27
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton. 61
24764192 2014
28
Genetic disorders associated with postnatal microcephaly. 61
24839169 2014
29
Rab18 and a Rab18 GEF complex are required for normal ER structure. 61
24891604 2014
30
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. 61
24239381 2013
31
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 61
23420520 2013
32
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
33
Warburg micro syndrome in two children from a highly inbred Turkish family. 61
22876574 2012
34
Warburg Micro syndrome. 61
22768674 2012
35
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. 61
21473985 2011
36
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. 61
20967465 2011
37
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. 61
20512159 2010
38
Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders. 61
18463892 2008
39
Analysis on the emerging role of Rab3 GTPase-activating protein in Warburg Micro and Martsolf syndrome. 61
18413245 2008
40
Warburg Micro syndrome in a Turkish boy. 61
17351351 2007
41
Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3. 61
16782817 2006
42
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. 61
16532399 2006
43
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 top 50) (show all 208) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val)SNV Conflicting interpretations of pathogenicity 211984 rs201613456 1:220356264-220356264 1:220182922-220182922
2 RAB3GAP1 NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys)SNV Conflicting interpretations of pathogenicity 211978 rs150478342 2:135887597-135887597 2:135130027-135130027
3 RAB3GAP1 NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=)SNV Conflicting interpretations of pathogenicity 130068 rs61748693 2:135920394-135920394 2:135162824-135162824
4 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)SNV Conflicting interpretations of pathogenicity 235683 rs139337049 1:220355619-220355619 1:220182277-220182277
5 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile)SNV Conflicting interpretations of pathogenicity 287195 rs149842844 1:220324983-220324983 1:220151641-220151641
6 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg)SNV Conflicting interpretations of pathogenicity 295643 rs151244742 1:220338086-220338086 1:220164744-220164744
7 RAB3GAP2 NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=)SNV Conflicting interpretations of pathogenicity 295673 rs145667920 1:220445641-220445641 1:220272299-220272299
8 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu)SNV Conflicting interpretations of pathogenicity 295652 rs150643803 1:220356104-220356104 1:220182762-220182762
9 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=)SNV Conflicting interpretations of pathogenicity 295651 rs140146408 1:220355605-220355605 1:220182263-220182263
10 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser)SNV Conflicting interpretations of pathogenicity 295657 rs143286302 1:220363411-220363411 1:220190069-220190069
11 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3867+13C>TSNV Conflicting interpretations of pathogenicity 295640 rs200579008 1:220326514-220326514 1:220153172-220153172
12 RAB3GAP2 NM_012414.4(RAB3GAP2):c.304+12A>GSNV Conflicting interpretations of pathogenicity 295671 rs530311696 1:220387186-220387186 1:220213844-220213844
13 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=)SNV Conflicting interpretations of pathogenicity 295642 rs140377995 1:220330777-220330777 1:220157435-220157435
14 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2807-15G>ASNV Conflicting interpretations of pathogenicity 295645 rs200407685 1:220341032-220341032 1:220167690-220167690
15 RAB3GAP1 NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=)SNV Conflicting interpretations of pathogenicity 331121 rs140929274 2:135870769-135870769 2:135113199-135113199
16 RAB3GAP1 NM_012233.3(RAB3GAP1):c.1307C>T (p.Pro436Leu)SNV Conflicting interpretations of pathogenicity 331127 rs75269203 2:135890535-135890535 2:135132965-135132965
17 RAB18 NM_021252.5(RAB18):c.-20C>TSNV Conflicting interpretations of pathogenicity 299813 rs74127323 10:27793279-27793279 10:27504350-27504350
18 RAB18 NM_021252.5(RAB18):c.*3193C>TSNV Uncertain significance 299868 rs886046978 10:27830173-27830173 10:27541244-27541244
19 RAB18 NM_021252.5(RAB18):c.454G>A (p.Ala152Thr)SNV Uncertain significance 299820 rs886046967 10:27826813-27826813 10:27537884-27537884
20 RAB18 NM_021252.5(RAB18):c.*16A>GSNV Uncertain significance 299821 rs886046968 10:27826996-27826996 10:27538067-27538067
21 RAB18 NM_021252.5(RAB18):c.*402T>CSNV Uncertain significance 299830 rs555933024 10:27827382-27827382 10:27538453-27538453
22 RAB18 NM_021252.5(RAB18):c.*1089C>ASNV Uncertain significance 299840 rs189434439 10:27828069-27828069 10:27539140-27539140
23 RAB18 NM_021252.5(RAB18):c.*1502G>CSNV Uncertain significance 299845 rs767488036 10:27828482-27828482 10:27539553-27539553
24 RAB18 NM_021252.5(RAB18):c.*1680A>TSNV Uncertain significance 299847 rs886046972 10:27828660-27828660 10:27539731-27539731
25 RAB18 NM_021252.5(RAB18):c.*2862T>CSNV Uncertain significance 299861 rs767741672 10:27829842-27829842 10:27540913-27540913
26 RAB18 NM_021252.5(RAB18):c.*3293deldeletion Uncertain significance 299869 rs573606717 10:27830273-27830273 10:27541344-27541344
27 RAB18 NM_021252.5(RAB18):c.*3599dupduplication Uncertain significance 299875 rs779470678 10:27830577-27830578 10:27541648-27541649
28 RAB18 NM_021252.5(RAB18):c.*2943A>GSNV Uncertain significance 299862 rs886046975 10:27829923-27829923 10:27540994-27540994
29 RAB18 NM_021252.5(RAB18):c.*2974C>GSNV Uncertain significance 299863 rs532562164 10:27829954-27829954 10:27541025-27541025
30 RAB18 NM_021252.5(RAB18):c.*3167G>ASNV Uncertain significance 299867 rs546186493 10:27830147-27830147 10:27541218-27541218
31 RAB18 NM_001256410.1(RAB18):c.-79T>ASNV Uncertain significance 299811 rs886046964 10:27793220-27793220 10:27504291-27504291
32 RAB18 NM_021252.5(RAB18):c.36C>A (p.Leu12=)SNV Uncertain significance 299814 rs61757825 10:27793334-27793334 10:27504405-27504405
33 RAB18 NM_021252.5(RAB18):c.298G>C (p.Asp100His)SNV Uncertain significance 299818 rs748274360 10:27822702-27822702 10:27533773-27533773
34 RAB18 NM_021252.5(RAB18):c.*62C>TSNV Uncertain significance 299822 rs886046969 10:27827042-27827042 10:27538113-27538113
35 RAB18 NM_021252.5(RAB18):c.*254A>GSNV Uncertain significance 299825 rs75899834 10:27827234-27827234 10:27538305-27538305
36 RAB18 NM_021252.5(RAB18):c.*557G>ASNV Uncertain significance 299832 rs77758705 10:27827537-27827537 10:27538608-27538608
37 RAB18 NM_021252.5(RAB18):c.*3701_*3704GACT[1]short repeat Uncertain significance 299877 rs759695566 10:27830680-27830683 10:27541751-27541754
38 RAB18 NM_021252.5(RAB18):c.*3927A>GSNV Uncertain significance 299880 rs886046981 10:27830907-27830907 10:27541978-27541978
39 RAB18 NM_001256410.1(RAB18):c.-182G>ASNV Uncertain significance 299808 rs770568854 10:27793117-27793117 10:27504188-27504188
40 RAB18 NM_001256410.1(RAB18):c.-144T>ASNV Uncertain significance 299809 rs780539442 10:27793155-27793155 10:27504226-27504226
41 RAB18 NM_001256410.1(RAB18):c.-83C>ASNV Uncertain significance 299810 rs115326586 10:27793216-27793216 10:27504287-27504287
42 RAB18 NM_021252.5(RAB18):c.-41A>GSNV Uncertain significance 299812 rs770276006 10:27793258-27793258 10:27504329-27504329
43 RAB18 NM_021252.5(RAB18):c.*741A>GSNV Uncertain significance 299833 rs114899806 10:27827721-27827721 10:27538792-27538792
44 RAB18 NM_021252.5(RAB18):c.*3729G>CSNV Uncertain significance 299878 rs530960985 10:27830709-27830709 10:27541780-27541780
45 RAB3GAP1 NM_012233.3(RAB3GAP1):c.*174T>CSNV Uncertain significance 331134 rs886054854 2:135926525-135926525 2:135168955-135168955
46 RAB3GAP1 NM_012233.3(RAB3GAP1):c.*201T>GSNV Uncertain significance 331135 rs78044288 2:135926552-135926552 2:135168982-135168982
47 RAB3GAP1 NM_012233.3(RAB3GAP1):c.*303G>ASNV Uncertain significance 331139 rs72980321 2:135926654-135926654 2:135169084-135169084
48 RAB3GAP1 NM_012233.3(RAB3GAP1):c.*404C>TSNV Uncertain significance 331142 rs149483456 2:135926755-135926755 2:135169185-135169185
49 RAB3GAP1 NM_012233.3(RAB3GAP1):c.*547A>GSNV Uncertain significance 331143 rs886054856 2:135926898-135926898 2:135169328-135169328
50 RAB18 NM_021252.5(RAB18):c.*764A>GSNV Uncertain significance 299836 rs749045175 10:27827744-27827744 10:27538815-27538815

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 RAB3GAP 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 21)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.44 TBC1D20 RABGAP1 RAB7B RAB7A RAB3A RAB35
2 cytosol GO:0005829 10.31 RABGEF1 RABGAP1 RAB7A RAB3GAP2 RAB3GAP1 RAB3A
3 extracellular exosome GO:0070062 10.18 RAB7A RAB3GAP1 RAB35 RAB2A RAB27A RAB21
4 endoplasmic reticulum membrane GO:0005789 10.1 TBC1D20 RAB3GAP2 RAB3GAP1 RAB2A RAB21 RAB1B
5 cytoplasmic vesicle GO:0031410 9.91 RAB7B RAB7A RAB3A RAB35 RAB32 RAB26
6 lysosome GO:0005764 9.9 RAB7B RAB7A RAB3A RAB27A
7 Golgi apparatus GO:0005794 9.9 RAB7B RAB7A RAB3GAP1 RAB32 RAB2A RAB27A
8 endosome membrane GO:0010008 9.86 RAB7A RAB35 RAB23 RAB10
9 trans-Golgi network GO:0005802 9.83 RAB7B RAB32 RAB21 RAB10
10 melanosome GO:0042470 9.81 RAB35 RAB32 RAB2A RAB27A
11 phagocytic vesicle GO:0045335 9.78 RAB7B RAB7A RAB32 RAB23
12 late endosome GO:0005770 9.76 RAB7B RAB7A RAB27A
13 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.72 TBC1D20 RAB2A RAB1B
14 phagocytic vesicle membrane GO:0030670 9.72 RAB7B RAB7A RAB32 RAB23 RAB10
15 endoplasmic reticulum tubular network GO:0071782 9.63 RAB3GAP1 RAB18 RAB10
16 endosome GO:0005768 9.61 RABGEF1 RAB7B RAB7A RAB3A RAB35 RAB27A
17 exocytic vesicle GO:0070382 9.59 RAB27A RAB10
18 melanosome membrane GO:0033162 9.58 RAB7A RAB32 RAB27A
19 phagophore assembly site membrane GO:0034045 9.57 RAB7A RAB1B
20 anchored component of synaptic vesicle membrane GO:0098993 9.54 RAB3A RAB35 RAB26
21 secretory granule membrane GO:0030667 9.1 RAB7A RAB3A RAB27A RAB26 RAB18 RAB10

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.96 RAB7A RAB3A RAB27A RAB18 RAB10
2 protein transport GO:0015031 9.93 RABGEF1 RAB7B RAB7A RAB3A RAB35 RAB2A
3 positive regulation of GTPase activity GO:0043547 9.91 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1
4 vesicle-mediated transport GO:0016192 9.9 RAB32 RAB2A RAB27A RAB10
5 Rab protein signal transduction GO:0032482 9.77 RAB7B RAB7A RAB3A RAB35 RAB32 RAB2A
6 regulation of GTPase activity GO:0043087 9.76 RABGAP1 RAB3GAP2 RAB3GAP1
7 autophagosome assembly GO:0000045 9.69 RAB7A RAB23 RAB1B
8 antigen processing and presentation GO:0019882 9.67 RAB35 RAB32 RAB27A RAB10
9 positive regulation of exocytosis GO:0045921 9.62 RAB3A RAB27A
10 regulation of exocytosis GO:0017157 9.62 RAB3A RAB26 RAB21 RAB10
11 synaptic vesicle transport GO:0048489 9.61 RAB3A RAB27A
12 regulated exocytosis GO:0045055 9.61 RAB3A RAB26 RAB10
13 regulation of short-term neuronal synaptic plasticity GO:0048172 9.59 RAB3GAP1 RAB3A
14 virion assembly GO:0019068 9.58 TBC1D20 RAB1B
15 lipid droplet organization GO:0034389 9.58 TBC1D20 RAB3GAP1 RAB18
16 positive regulation of autophagosome assembly GO:2000786 9.57 RAB3GAP2 RAB3GAP1
17 phagosome maturation GO:0090382 9.55 RAB7A RAB32
18 endoplasmic reticulum tubular network organization GO:0071786 9.54 RAB18 RAB10
19 phagosome-lysosome fusion GO:0090385 9.52 RAB7B RAB7A
20 intracellular protein transport GO:0006886 9.5 RABGAP1 RAB7B RAB7A RAB3GAP2 RAB3A RAB35
21 positive regulation of regulated secretory pathway GO:1903307 9.49 RAB3A RAB27A
22 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.48 RAB3GAP2 RAB3GAP1
23 positive regulation of protein lipidation GO:1903061 9.46 RAB3GAP2 RAB3GAP1
24 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 9.43 RAB3GAP2 RAB3GAP1 RAB10

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.38 ZRANB3 TBC1D20 RABGEF1 RABGAP1 RAB7A RAB3GAP2
2 nucleotide binding GO:0000166 9.8 RAB7A RAB2A RAB26 RAB23 RAB21 RAB1B
3 GTP binding GO:0005525 9.77 RAB7B RAB7A RAB3A RAB35 RAB32 RAB2A
4 GTPase activator activity GO:0005096 9.76 TBC1D20 RABGAP1 RAB3GAP2 RAB3GAP1
5 Rab GTPase binding GO:0017137 9.72 TBC1D20 RABGEF1 RABGAP1 RAB3GAP2 RAB3GAP1
6 GDP binding GO:0019003 9.7 RAB7A RAB35 RAB2A RAB27A RAB21 RAB18
7 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.61 RABGEF1 RAB3GAP2 RAB3GAP1
8 myosin V binding GO:0031489 9.54 RAB3A RAB27A RAB10
9 GTP-dependent protein binding GO:0030742 9.48 RAB3A RAB32
10 GTPase activity GO:0003924 9.44 RAB7B RAB7A RAB3A RAB35 RAB32 RAB2A

Sources for Warburg Micro Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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