WARBM1
MCID: WRB002
MIFTS: 44

Warburg Micro Syndrome 1 (WARBM1)

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

Aliases & Classifications for Warburg Micro Syndrome 1

MalaCards integrated aliases for Warburg Micro Syndrome 1:

Name: Warburg Micro Syndrome 1 58 12 76 30 13 6 15
Micro Syndrome 58 77 54 76
Warbm1 58 12 76
Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy and Hypogenitalism 54
Warburg Sjo Fledelius Syndrome 74
Warburg Micro Syndrome, Type 1 41
Warburg Micro Syndrome 54
Micro Syndrome 1 12
Warbm 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
warburg micro syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Warburg Micro Syndrome 1

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2510Disease definitionMicro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenitalcataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.EpidemiologySince its initial description, 26 cases of Micro syndrome have been reported in the literature.Clinical descriptionWith exception of the ophthalmologic features, the clinical and dysmorphic findings are either unapparent or subtle in the early postnatal period.EtiologyMutations in RAB3GAP, a gene showing linkage to a region of homozygosity at 2q21.3, have been identified in some families. The RAB3GAP gene encodes a member of the Rab3 protein family, which is involved in regulated exocytosis of neurotransmitters and hormones. It has been suggested that the hypogenitalism is hypothalamic in origin, and that the ocular and neurodevelopmental defects result from abnormal neurotransmitter vesicular transport and exocytosis.Diagnostic methodsOcular findings are the most reliable diagnostic signs of Micro syndrome, especially during infancy. Pathognomonic ophthalmologic findings include microphthalmia, microcornea, cataract, atonic pupils, mild optic atrophy, and severe cortical vision impairment.Differential diagnosisMicro syndrome should be considered in any infant with congenital cataract.Management and treatmentThere is no specific treatment for Micro syndrome and the management is symptomatic. The conventional approach used for congenital cataract should be recommended.Visit the Orphanet disease page for more resources.

MalaCards based summary : Warburg Micro Syndrome 1, also known as micro syndrome, is related to warburg micro syndrome 4 and warburg micro syndrome 2. An important gene associated with Warburg Micro Syndrome 1 is RAB3GAP1 (RAB3 GTPase Activating Protein Catalytic Subunit 1), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Affiliated tissues include eye, kidney and cortex, and related phenotypes are high palate and muscular hypotonia

Disease Ontology : 12 A Warburg micro syndrome that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21.

OMIM : 58 Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). (600118)

UniProtKB/Swiss-Prot : 76 Warburg micro syndrome 1: 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.

Wikipedia : 77 Micro syndrome is a rare autosomal recessive genetic disorder characterized by microcephaly,... more...

Related Diseases for Warburg Micro Syndrome 1

Graphical network of the top 20 diseases related to Warburg Micro Syndrome 1:



Diseases related to Warburg Micro Syndrome 1

Symptoms & Phenotypes for Warburg Micro Syndrome 1

Human phenotypes related to Warburg Micro Syndrome 1:

33 (show top 50) (show all 58)
# Description HPO Frequency HPO Source Accession
1 high palate 33 hallmark (90%) HP:0000218
2 muscular hypotonia 33 hallmark (90%) HP:0001252
3 spasticity 33 hallmark (90%) HP:0001257
4 cataract 33 hallmark (90%) HP:0000518
5 global developmental delay 33 hallmark (90%) HP:0001263
6 wide nasal bridge 33 hallmark (90%) HP:0000431
7 joint stiffness 33 hallmark (90%) HP:0001387
8 short nose 33 hallmark (90%) HP:0003196
9 microcephaly 33 hallmark (90%) HP:0000252
10 anteverted nares 33 hallmark (90%) HP:0000463
11 optic atrophy 33 hallmark (90%) HP:0000648
12 short stature 33 hallmark (90%) HP:0004322
13 delayed puberty 33 hallmark (90%) HP:0000823
14 intellectual disability, severe 33 hallmark (90%) HP:0010864
15 cryptorchidism 33 hallmark (90%) HP:0000028
16 short philtrum 33 hallmark (90%) HP:0000322
17 microphthalmia 33 hallmark (90%) HP:0000568
18 microcornea 33 hallmark (90%) HP:0000482
19 pachygyria 33 hallmark (90%) HP:0001302
20 aplasia/hypoplasia of the corpus callosum 33 hallmark (90%) HP:0007370
21 cerebral visual impairment 33 hallmark (90%) HP:0100704
22 scoliosis 33 frequent (33%) HP:0002650
23 kyphosis 33 frequent (33%) HP:0002808
24 macrotia 33 frequent (33%) HP:0000400
25 abnormality of retinal pigmentation 33 frequent (33%) HP:0007703
26 abnormality of visual evoked potentials 33 frequent (33%) HP:0000649
27 micrognathia 33 frequent (33%) HP:0000347
28 generalized hirsutism 33 frequent (33%) HP:0002230
29 intrauterine growth retardation 33 frequent (33%) HP:0001511
30 cerebral cortical atrophy 33 frequent (33%) HP:0002120
31 low-set, posteriorly rotated ears 33 frequent (33%) HP:0000368
32 hypoplasia of penis 33 frequent (33%) HP:0008736
33 clitoral hypoplasia 33 frequent (33%) HP:0000060
34 hypoplastic labia minora 33 frequent (33%) HP:0000064
35 seizures 33 occasional (7.5%) HP:0001250
36 peripheral neuropathy 33 occasional (7.5%) HP:0009830
37 joint hypermobility 33 occasional (7.5%) HP:0001382
38 hydronephrosis 33 occasional (7.5%) HP:0000126
39 abnormal localization of kidney 33 occasional (7.5%) HP:0100542
40 cerebellar vermis hypoplasia 33 occasional (7.5%) HP:0001320
41 retinal coloboma 33 occasional (7.5%) HP:0000480
42 overlapping toe 33 occasional (7.5%) HP:0001845
43 agenesis of corpus callosum 33 HP:0001274
44 ptosis 33 HP:0000508
45 intellectual disability 33 HP:0001249
46 hyperreflexia 33 HP:0001347
47 failure to thrive 33 HP:0001508
48 osteoporosis 33 HP:0000939
49 kyphoscoliosis 33 HP:0002751
50 cerebellar hypoplasia 33 HP:0001321

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
optic atrophy
microphthalmia
microcornea
congenital cataract
more
Head And Neck Head:
microcephaly

Skeletal:
osteoporosis

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
facial hypertrichosis

Genitourinary External Genitalia Male:
hypogenitalism

Skeletal Limbs:
joint hypermobility (rare)

Skeletal Feet:
deformities of metatarsal bones (rare)
overlapping toes (rare)

Neurologic Central Nervous System:
hyperreflexia
cerebellar hypoplasia
hypoplasia of the corpus callosum
cerebral atrophy
spastic diplegia
more
Growth Height:
short stature

Head And Neck Face:
micrognathia

Skeletal Spine:
kyphoscoliosis

Head And Neck Ears:
large ears

Growth Other:
postnatal failure to thrive

Skeletal Hands:
joint hypermobility (rare)

Clinical features from OMIM:

600118

Drugs & Therapeutics for Warburg Micro Syndrome 1

Search Clinical Trials , NIH Clinical Center for Warburg Micro Syndrome 1

Genetic Tests for Warburg Micro Syndrome 1

Genetic tests related to Warburg Micro Syndrome 1:

# Genetic test Affiliating Genes
1 Warburg Micro Syndrome 1 30 RAB3GAP1

Anatomical Context for Warburg Micro Syndrome 1

MalaCards organs/tissues related to Warburg Micro Syndrome 1:

42
Eye, Kidney, Cortex

Publications for Warburg Micro Syndrome 1

Articles related to Warburg Micro Syndrome 1:

(show all 34)
# Title Authors 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. ( 30721447 )
2019
2
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? ( 29419336 )
2018
3
Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters. ( 29675078 )
2017
4
Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy. ( 27764520 )
2016
5
Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome. ( 26421802 )
2016
6
RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex. ( 26879639 )
2016
7
Warburg micro syndrome in siblings from India. ( 27195044 )
2016
8
A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). ( 26596647 )
2015
9
ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18. ( 25779931 )
2015
10
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. ( 25899426 )
2015
11
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. ( 26063829 )
2015
12
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. ( 27081543 )
2015
13
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. ( 25077174 )
2014
14
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton. ( 24764192 )
2014
15
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1. ( 25332050 )
2014
16
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. ( 24239381 )
2013
17
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. ( 23420520 )
2013
18
Warburg Micro syndrome. ( 22768674 )
2012
19
Warburg micro syndrome in two children from a highly inbred Turkish family. ( 22876574 )
2012
20
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. ( 20967465 )
2011
21
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. ( 21473985 )
2011
22
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. ( 20512159 )
2010
23
Warburg Micro syndrome in a Turkish boy. ( 17351351 )
2007
24
Phenotypic variability in Micro syndrome: report of new cases. ( 18286824 )
2007
25
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. ( 15696165 )
2005
26
Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. ( 15216542 )
2004
27
MICRO syndrome: an entity distinct from COFS syndrome. ( 15216543 )
2004
28
Autopsy case of multiple anomalies with hypoplastic cerebrum, eyes, and endocrine organs, mimicking Micro syndrome. ( 12661939 )
2003
29
Micro syndrome in Muslim Pakistan children. ( 11237903 )
2001
30
Polymicrogyria and motor neuropathy in Micro syndrome. ( 11071150 )
2000
31
Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? ( 10465117 )
1999
32
A second family with Micro syndrome. ( 10532171 )
1999
33
X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome. ( 8958326 )
1996
34
Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome. ( 8249951 )
1993

Variations for Warburg Micro Syndrome 1

ClinVar genetic disease variations for Warburg Micro Syndrome 1:

6 (show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2801delC (p.Pro934Leufs) deletion Pathogenic rs730882182 GRCh37 Chromosome 2, 135926206: 135926206
2 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2801delC (p.Pro934Leufs) deletion Pathogenic rs730882182 GRCh38 Chromosome 2, 135168636: 135168636
3 RAB3GAP1 NM_012233.2(RAB3GAP1): c.649-2A> G single nucleotide variant Pathogenic rs730882183 GRCh37 Chromosome 2, 135878387: 135878387
4 RAB3GAP1 NM_012233.2(RAB3GAP1): c.649-2A> G single nucleotide variant Pathogenic rs730882183 GRCh38 Chromosome 2, 135120817: 135120817
5 RAB3GAP1 NM_012233.2(RAB3GAP1): c.748+1G> A single nucleotide variant Pathogenic rs587776651 GRCh37 Chromosome 2, 135878489: 135878489
6 RAB3GAP1 NM_012233.2(RAB3GAP1): c.748+1G> A single nucleotide variant Pathogenic rs587776651 GRCh38 Chromosome 2, 135120919: 135120919
7 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2011C> T (p.Arg671Ter) single nucleotide variant Pathogenic rs137853052 GRCh37 Chromosome 2, 135908026: 135908026
8 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2011C> T (p.Arg671Ter) single nucleotide variant Pathogenic rs137853052 GRCh38 Chromosome 2, 135150456: 135150456
9 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.1734G> A (p.Trp578Ter) single nucleotide variant Pathogenic rs137853053 GRCh37 Chromosome 2, 135893313: 135893313
10 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.1734G> A (p.Trp578Ter) single nucleotide variant Pathogenic rs137853053 GRCh38 Chromosome 2, 135135743: 135135743
11 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.1410C> A (p.Tyr470Ter) single nucleotide variant Pathogenic rs267606996 GRCh37 Chromosome 2, 135891514: 135891514
12 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.1410C> A (p.Tyr470Ter) single nucleotide variant Pathogenic rs267606996 GRCh38 Chromosome 2, 135133944: 135133944
13 RAB3GAP1 NM_012233.2(RAB3GAP1): c.264_270delAAAGGATinsTTATTA (p.Lys89Tyrfs) indel Pathogenic rs730882184 GRCh37 Chromosome 2, 135848681: 135848687
14 RAB3GAP1 NM_012233.2(RAB3GAP1): c.264_270delAAAGGATinsTTATTA (p.Lys89Tyrfs) indel Pathogenic rs730882184 GRCh38 Chromosome 2, 135091111: 135091117
15 RAB3GAP1 NM_012233.2(RAB3GAP1): c.899+1G> A single nucleotide variant Pathogenic rs587777152 GRCh37 Chromosome 2, 135883820: 135883820
16 RAB3GAP1 NM_012233.2(RAB3GAP1): c.899+1G> A single nucleotide variant Pathogenic rs587777152 GRCh38 Chromosome 2, 135126250: 135126250
17 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2037_2055dup (p.Phe686Alafs) duplication Pathogenic rs587777153 GRCh37 Chromosome 2, 135908052: 135908070
18 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2037_2055dup (p.Phe686Alafs) duplication Pathogenic rs587777153 GRCh38 Chromosome 2, 135150482: 135150500
19 RAB3GAP1 NM_012233.2(RAB3GAP1): c.52A> C (p.Thr18Pro) single nucleotide variant Pathogenic rs587777154 GRCh37 Chromosome 2, 135810033: 135810033
20 RAB3GAP1 NM_012233.2(RAB3GAP1): c.52A> C (p.Thr18Pro) single nucleotide variant Pathogenic rs587777154 GRCh38 Chromosome 2, 135052463: 135052463
21 RAB3GAP1 NM_012233.2(RAB3GAP1): c.71A> T (p.Glu24Val) single nucleotide variant Pathogenic rs587777155 GRCh37 Chromosome 2, 135810052: 135810052
22 RAB3GAP1 NM_012233.2(RAB3GAP1): c.71A> T (p.Glu24Val) single nucleotide variant Pathogenic rs587777155 GRCh38 Chromosome 2, 135052482: 135052482
23 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1793A> G (p.Asn598Ser) single nucleotide variant Benign rs10445686 GRCh37 Chromosome 2, 135893372: 135893372
24 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1793A> G (p.Asn598Ser) single nucleotide variant Benign rs10445686 GRCh38 Chromosome 2, 135135802: 135135802
25 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2265T> C (p.Phe755=) single nucleotide variant Benign rs17261772 GRCh37 Chromosome 2, 135911422: 135911422
26 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2265T> C (p.Phe755=) single nucleotide variant Benign rs17261772 GRCh38 Chromosome 2, 135153852: 135153852
27 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2642T> G (p.Leu881Ter) single nucleotide variant Pathogenic rs797045905 GRCh37 Chromosome 2, 135922199: 135922199
28 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2642T> G (p.Leu881Ter) single nucleotide variant Pathogenic rs797045905 GRCh38 Chromosome 2, 135164629: 135164629
29 RAB3GAP1 NM_012233.2(RAB3GAP1): c.630_631insC (p.Ile211Hisfs) insertion Pathogenic rs1064794536 GRCh37 Chromosome 2, 135872933: 135872934
30 RAB3GAP1 NM_012233.2(RAB3GAP1): c.630_631insC (p.Ile211Hisfs) insertion Pathogenic rs1064794536 GRCh38 Chromosome 2, 135115363: 135115364
31 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.429_430insT (p.Lys144Terfs) insertion Pathogenic rs1553444644 GRCh38 Chromosome 2, 135113217: 135113218
32 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.429_430insT (p.Lys144Terfs) insertion Pathogenic rs1553444644 GRCh37 Chromosome 2, 135870787: 135870788
33 RAB3GAP1 NM_012233.2(RAB3GAP1): c.560G> C (p.Arg187Pro) single nucleotide variant Pathogenic rs1553444935 GRCh38 Chromosome 2, 135115293: 135115293
34 RAB3GAP1 NM_012233.2(RAB3GAP1): c.560G> C (p.Arg187Pro) single nucleotide variant Pathogenic rs1553444935 GRCh37 Chromosome 2, 135872863: 135872863
35 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1039C> T (p.Arg347Ter) single nucleotide variant Pathogenic rs532964185 GRCh38 Chromosome 2, 135130060: 135130060
36 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1039C> T (p.Arg347Ter) single nucleotide variant Pathogenic rs532964185 GRCh37 Chromosome 2, 135887630: 135887630
37 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2865_2866insTTCT (p.Pro956PhefsTer15) insertion Pathogenic rs1553450718 GRCh38 Chromosome 2, 135168700: 135168701
38 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2865_2866insTTCT (p.Pro956PhefsTer15) insertion Pathogenic rs1553450718 GRCh37 Chromosome 2, 135926270: 135926271
39 RAB3GAP1 NM_012233.2(RAB3GAP1): c.469G> T (p.Gly157Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 135870827: 135870827
40 RAB3GAP1 NM_012233.2(RAB3GAP1): c.469G> T (p.Gly157Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 135113257: 135113257
41 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1310C> G (p.Ser437Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 135890538: 135890538
42 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1310C> G (p.Ser437Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 135132968: 135132968
43 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1237-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 2, 135890463: 135890463
44 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1237-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 2, 135132893: 135132893
45 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2491G> T (p.Glu831Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 135162986: 135162986
46 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2491G> T (p.Glu831Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 135920556: 135920556

Expression for Warburg Micro Syndrome 1

Search GEO for disease gene expression data for Warburg Micro Syndrome 1.

Pathways for Warburg Micro Syndrome 1

GO Terms for Warburg Micro Syndrome 1

Cellular components related to Warburg Micro Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.26 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
2 endoplasmic reticulum tubular network GO:0071782 8.62 RAB18 RAB3GAP1

Biological processes related to Warburg Micro Syndrome 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.73 RAB18 RAB3GAP2 RABGAP1 TBC1D1
2 positive regulation of GTPase activity GO:0043547 9.67 RAB3GAP1 RAB3GAP2 RABGAP1 TBC1D20
3 regulation of GTPase activity GO:0043087 9.58 RAB3GAP1 RAB3GAP2 RABGAP1
4 activation of GTPase activity GO:0090630 9.49 RABGAP1 TBC1D1
5 camera-type eye development GO:0043010 9.48 RAB3GAP1 TBC1D20
6 positive regulation of autophagosome assembly GO:2000786 9.46 RAB3GAP1 RAB3GAP2
7 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.32 RAB3GAP1 RAB3GAP2
8 positive regulation of protein lipidation GO:1903061 9.26 RAB3GAP1 RAB3GAP2
9 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 9.16 RAB3GAP1 RAB3GAP2
10 regulation of cilium assembly GO:1902017 9.13 RABGAP1 TBC1D1 TBC1D20
11 lipid droplet organization GO:0034389 8.8 RAB18 RAB3GAP1 TBC1D20

Molecular functions related to Warburg Micro Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 9.35 RAB3GAP1 RAB3GAP2 RABGAP1 TBC1D1 TBC1D20
2 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.16 RAB3GAP1 RAB3GAP2
3 Rab GTPase binding GO:0017137 9.02 RAB3GAP1 RAB3GAP2 RABGAP1 TBC1D1 TBC1D20

Sources for Warburg Micro Syndrome 1

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
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35 ICD10 via Orphanet
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45 MeSH
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50 NCI
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