Disease table of WARBURG MICRO SYNDROME OMIM ID: PS600118

Gene-disease associations table

Gene	Associated with WARBURG MICRO SYNDROME in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
RAB18	ClinVar, OMIM, HUMSAVAR	HGNC link	10p12.1	1	PS600118
TBC1D20	ClinVar, OMIM	HGNC link	20p13	1	PS600118
RAB3GAP2	ClinVar, OMIM	HGNC link	1q41	2	212720, PS600118
RAB3GAP1	ClinVar, OMIM	HGNC link	2q21.3	1	PS600118

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
RAB3GAP2	RAB3GAP1	Yes	11	GNE, GABPA, VCP, LMAN1, PAXIP1, SIRT2, TSEN34, VAPB, MAP1LC3A, NTRK1, VAPA

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
RAB18	RAB3GAP2	No	-	1	UBC
RAB3GAP2	RAB3GAP1	Yes	binding	0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)

REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)

GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
protein binding (GO:0005515)	0.46	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
GTPase regulator activity (GO:0030695)	4.01	3	TBC1D20, RAB3GAP1, RAB3GAP2
enzyme regulator activity (GO:0030234)	2.85	3	TBC1D20, RAB3GAP1, RAB3GAP2
GTPase activator activity (GO:0005096)	4.11	3	TBC1D20, RAB3GAP1, RAB3GAP2
Rab GTPase binding (GO:0017137)	4.96	3	TBC1D20, RAB3GAP1, RAB3GAP2
enzyme binding (GO:0019899)	2.27	3	TBC1D20, RAB3GAP1, RAB3GAP2
Ras GTPase binding (GO:0017016)	4.2	3	TBC1D20, RAB3GAP1, RAB3GAP2
small GTPase binding (GO:0031267)	4.13	3	TBC1D20, RAB3GAP1, RAB3GAP2
GTPase binding (GO:0051020)	4.05	3	TBC1D20, RAB3GAP1, RAB3GAP2
enzyme activator activity (GO:0008047)	3.56	3	TBC1D20, RAB3GAP1, RAB3GAP2
molecular function regulator (GO:0098772)	2.51	3	TBC1D20, RAB3GAP1, RAB3GAP2
nucleoside-triphosphatase regulator activity (GO:0060589)	3.92	3	TBC1D20, RAB3GAP1, RAB3GAP2
Ras guanyl-nucleotide exchange factor activity (GO:0005088)	4.31	2	RAB3GAP1, RAB3GAP2
guanyl-nucleotide exchange factor activity (GO:0005085)	4.02	2	RAB3GAP1, RAB3GAP2
Rab guanyl-nucleotide exchange factor activity (GO:0017112)	6.34	2	RAB3GAP1, RAB3GAP2

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
GTPase regulator activity (GO:0030695)	-	4.01	0.0	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
enzyme regulator activity (GO:0030234)	-	2.85	0.023	TBC1D20, RAB3GAP1, RAB3GAP2
GTPase activator activity (GO:0005096)	-	4.11	0.001	TBC1D20, RAB3GAP1, RAB3GAP2
Rab GTPase binding (GO:0017137)	-	4.96	0.0	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
small GTPase binding (GO:0031267)	-	4.13	0.0	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
GTPase binding (GO:0051020)	-	4.05	0.0	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
enzyme activator activity (GO:0008047)	-	3.56	0.002	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
Ras GTPase binding (GO:0017016)	-	4.2	0.0	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
nucleoside-triphosphatase regulator activity (GO:0060589)	-	3.92	0.001	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
localization (GO:0051179)	1.4	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
establishment of localization (GO:0051234)	1.48	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
biological regulation (GO:0065007)	0.39	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
regulation of biological process (GO:0050789)	0.45	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
regulation of cellular process (GO:0050794)	0.5	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
regulation of organelle organization (GO:0033043)	2.72	3	TBC1D20, RAB3GAP1, RAB3GAP2
regulation of cellular component organization (GO:0051128)	2.01	3	TBC1D20, RAB3GAP1, RAB3GAP2
regulation of GTPase activity (GO:0043087)	3.21	3	TBC1D20, RAB3GAP1, RAB3GAP2
single-organism process (GO:0044699)	0.48	3	TBC1D20, RAB18, RAB3GAP1
positive regulation of GTPase activity (GO:0043547)	3.28	3	TBC1D20, RAB3GAP1, RAB3GAP2
positive regulation of hydrolase activity (GO:0051345)	2.91	3	TBC1D20, RAB3GAP1, RAB3GAP2
cellular component organization or biogenesis (GO:0071840)	1.22	3	TBC1D20, RAB18, RAB3GAP1
cellular component organization (GO:0016043)	1.24	3	TBC1D20, RAB18, RAB3GAP1
animal organ development (GO:0048513)	2.53	3	TBC1D20, RAB18, RAB3GAP1
positive regulation of catalytic activity (GO:0043085)	2.4	3	TBC1D20, RAB3GAP1, RAB3GAP2
transport (GO:0006810)	1.51	3	TBC1D20, RAB18, RAB3GAP2
positive regulation of biological process (GO:0048518)	1.2	3	TBC1D20, RAB3GAP1, RAB3GAP2
regulation of molecular function (GO:0065009)	1.78	3	TBC1D20, RAB3GAP1, RAB3GAP2
regulation of organelle assembly (GO:1902115)	4.7	3	TBC1D20, RAB3GAP1, RAB3GAP2
developmental process (GO:0032502)	1.36	3	TBC1D20, RAB18, RAB3GAP1
organelle organization (GO:0006996)	2.02	3	TBC1D20, RAB18, RAB3GAP1
cellular process (GO:0009987)	0.26	3	TBC1D20, RAB18, RAB3GAP1
positive regulation of molecular function (GO:0044093)	2.23	3	TBC1D20, RAB3GAP1, RAB3GAP2
regulation of catalytic activity (GO:0050790)	1.97	3	TBC1D20, RAB3GAP1, RAB3GAP2
establishment of protein localization (GO:0045184)	2.53	3	RAB18, RAB3GAP1, RAB3GAP2
eye development (GO:0001654)	5.07	3	TBC1D20, RAB18, RAB3GAP1
regulation of hydrolase activity (GO:0051336)	2.53	3	TBC1D20, RAB3GAP1, RAB3GAP2
single-organism developmental process (GO:0044767)	1.49	3	TBC1D20, RAB18, RAB3GAP1
lipid particle organization (GO:0034389)	7.09	3	TBC1D20, RAB18, RAB3GAP1
sensory organ development (GO:0007423)	4.82	3	TBC1D20, RAB18, RAB3GAP1
anatomical structure development (GO:0048856)	1.58	3	TBC1D20, RAB18, RAB3GAP1
regulation of cellular component biogenesis (GO:0044087)	3.08	3	TBC1D20, RAB3GAP1, RAB3GAP2
positive regulation of cellular process (GO:0048522)	1.3	3	TBC1D20, RAB3GAP1, RAB3GAP2
positive regulation of protein lipidation (GO:1903061)	8.63	2	RAB3GAP1, RAB3GAP2
protein localization (GO:0008104)	2.36	2	RAB18, RAB3GAP2
positive regulation of metabolic process (GO:0009893)	1.74	2	RAB3GAP1, RAB3GAP2
regulation of metabolic process (GO:0019222)	1.02	2	RAB3GAP1, RAB3GAP2
positive regulation of biosynthetic process (GO:0009891)	2.29	2	RAB3GAP1, RAB3GAP2
regulation of transport (GO:0051049)	2.24	2	TBC1D20, RAB3GAP1
positive regulation of cellular metabolic process (GO:0031325)	1.81	2	RAB3GAP1, RAB3GAP2
regulation of cellular metabolic process (GO:0031323)	1.07	2	RAB3GAP1, RAB3GAP2
establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)	8.63	2	RAB3GAP1, RAB3GAP2
positive regulation of macroautophagy (GO:0016239)	6.07	2	RAB3GAP1, RAB3GAP2
anatomical structure morphogenesis (GO:0009653)	2.53	2	TBC1D20, RAB3GAP1
regulation of lipoprotein metabolic process (GO:0050746)	7.02	2	RAB3GAP1, RAB3GAP2
regulation of primary metabolic process (GO:0080090)	1.08	2	RAB3GAP1, RAB3GAP2
positive regulation of macromolecule metabolic process (GO:0010604)	1.81	2	RAB3GAP1, RAB3GAP2
positive regulation of organelle assembly (GO:1902117)	5.8	2	RAB3GAP1, RAB3GAP2
positive regulation of cellular biosynthetic process (GO:0031328)	2.3	2	RAB3GAP1, RAB3GAP2
regulation of protein metabolic process (GO:0051246)	1.93	2	RAB3GAP1, RAB3GAP2
positive regulation of protein metabolic process (GO:0051247)	2.43	2	RAB3GAP1, RAB3GAP2
positive regulation of autophagy (GO:0010508)	5.41	2	RAB3GAP1, RAB3GAP2
positive regulation of cellular protein metabolic process (GO:0032270)	2.49	2	RAB3GAP1, RAB3GAP2
positive regulation of vacuole organization (GO:0044090)	7.24	2	RAB3GAP1, RAB3GAP2
organic substance transport (GO:0071702)	2.15	2	RAB18, RAB3GAP2
regulation of biological quality (GO:0065008)	1.68	2	TBC1D20, RAB3GAP1
regulation of autophagy (GO:0010506)	4.21	2	RAB3GAP1, RAB3GAP2
regulation of macroautophagy (GO:0016241)	4.98	2	RAB3GAP1, RAB3GAP2
positive regulation of cellular component organization (GO:0051130)	2.68	2	RAB3GAP1, RAB3GAP2
regulation of protein lipidation (GO:1903059)	8.34	2	RAB3GAP1, RAB3GAP2
establishment of protein localization to endoplasmic reticulum (GO:0072599)	5.08	2	RAB3GAP1, RAB3GAP2
positive regulation of transport (GO:0051050)	2.9	2	TBC1D20, RAB3GAP1
regulation of macromolecule metabolic process (GO:0060255)	1.08	2	RAB3GAP1, RAB3GAP2
establishment of protein localization to organelle (GO:0072594)	3.92	2	RAB3GAP1, RAB3GAP2
regulation of protein modification process (GO:0031399)	2.32	2	RAB3GAP1, RAB3GAP2
regulation of biosynthetic process (GO:0009889)	1.37	2	RAB3GAP1, RAB3GAP2
regulation of cellular localization (GO:0060341)	3.03	2	TBC1D20, RAB3GAP1
regulation of vesicle-mediated transport (GO:0060627)	3.63	2	TBC1D20, RAB3GAP1
regulation of cellular biosynthetic process (GO:0031326)	1.38	2	RAB3GAP1, RAB3GAP2
protein transport (GO:0015031)	2.62	2	RAB18, RAB3GAP2
regulation of cellular protein metabolic process (GO:0032268)	1.99	2	RAB3GAP1, RAB3GAP2
positive regulation of autophagosome assembly (GO:2000786)	7.53	2	RAB3GAP1, RAB3GAP2
regulation of autophagosome assembly (GO:2000785)	6.2	2	RAB3GAP1, RAB3GAP2
establishment of localization in cell (GO:0051649)	2.47	2	TBC1D20, RAB3GAP2
regulation of cellular macromolecule biosynthetic process (GO:2000112)	1.46	2	RAB3GAP1, RAB3GAP2
regulation of localization (GO:0032879)	1.94	2	TBC1D20, RAB3GAP1
cellular localization (GO:0051641)	2.32	2	TBC1D20, RAB3GAP2
macromolecule localization (GO:0033036)	2.34	2	RAB18, RAB3GAP2
positive regulation of lipoprotein metabolic process (GO:0050747)	8.34	2	RAB3GAP1, RAB3GAP2
brain development (GO:0007420)	4.24	2	RAB18, RAB3GAP1
intracellular transport (GO:0046907)	2.67	2	TBC1D20, RAB3GAP2
establishment of protein localization to membrane (GO:0090150)	4.14	2	RAB3GAP1, RAB3GAP2
positive regulation of protein modification process (GO:0031401)	2.7	2	RAB3GAP1, RAB3GAP2
positive regulation of organelle organization (GO:0010638)	3.38	2	RAB3GAP1, RAB3GAP2
positive regulation of macromolecule biosynthetic process (GO:0010557)	2.39	2	RAB3GAP1, RAB3GAP2
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	2	RAB3GAP1, RAB3GAP2
positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)	9.04	2	RAB3GAP1, RAB3GAP2
regulation of endoplasmic reticulum tubular network organization (GO:1903371)	8.63	2	RAB3GAP1, RAB3GAP2
camera-type eye development (GO:0043010)	5.36	2	TBC1D20, RAB3GAP1
regulation of vacuole organization (GO:0044088)	6.02	2	RAB3GAP1, RAB3GAP2
positive regulation of cellular component biogenesis (GO:0044089)	3.71	2	RAB3GAP1, RAB3GAP2

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
regulation of GTPase activity (GO:0043087)	-	3.21	0.021	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
positive regulation of nucleotide metabolic process (GO:0045981)	NEW	4.85	0.033	TBC1D20, RAB3GAP1
positive regulation of GTPase activity (GO:0043547)	-	3.28	0.017	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
positive regulation of nucleotide catabolic process (GO:0030813)	NEW	9.04	0.004	TBC1D20, RAB3GAP1
regulation of nucleotide catabolic process (GO:0030811)	NEW	8.34	0.027	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
positive regulation of nucleoside metabolic process (GO:0045979)	NEW	6.55	0.003	TBC1D20, RAB3GAP1
positive regulation of purine nucleotide catabolic process (GO:0033123)	NEW	9.04	0.004	TBC1D20, RAB3GAP1
regulation of purine nucleotide catabolic process (GO:0033121)	NEW	8.34	0.01	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
lipid particle organization (GO:0034389)	-	7.09	0.0	TBC1D20, RAB18, RAB3GAP1
eye development (GO:0001654)	-	5.07	0.022	RAB18, RAB3GAP1
regulation of nucleoside metabolic process (GO:0009118)	NEW	5.82	0.01	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
regulation of purine nucleotide metabolic process (GO:1900542)	NEW	4.41	0.048	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
positive regulation of purine nucleotide metabolic process (GO:1900544)	NEW	4.85	0.033	TBC1D20, RAB3GAP1
sensory organ development (GO:0007423)	-	4.82	0.037	RAB18, RAB3GAP1
establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)	-	8.63	0.0	RAB3GAP1, RAB3GAP2
positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)	-	9.04	0.0	RAB3GAP1, RAB3GAP2
regulation of nucleotide metabolic process (GO:0006140)	NEW	4.38	0.023	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
regulation of endoplasmic reticulum tubular network organization (GO:1903371)	-	8.63	0.0	RAB3GAP1, RAB3GAP2

GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
membrane (GO:0016020)	0.68	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
cell part (GO:0044464)	0.11	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
endoplasmic reticulum membrane (GO:0005789)	2.95	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
intracellular organelle part (GO:0044446)	0.81	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
endoplasmic reticulum part (GO:0044432)	2.73	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
cytoplasmic part (GO:0044444)	0.82	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
intracellular part (GO:0044424)	0.28	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
membrane part (GO:0044425)	0.95	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
organelle part (GO:0044422)	0.79	4	TBC1D20, RAB18, RAB3GAP1, RAB3GAP2
membrane-bounded organelle (GO:0043227)	0.47	3	TBC1D20, RAB18, RAB3GAP1
organelle (GO:0043226)	0.4	3	TBC1D20, RAB18, RAB3GAP1
cytoplasm (GO:0005737)	1.01	2	RAB3GAP1, RAB3GAP2
protein complex (GO:0043234)	1.51	2	RAB3GAP1, RAB3GAP2
organelle subcompartment (GO:0031984)	4.55	2	RAB18, RAB3GAP1
extracellular organelle (GO:0043230)	1.89	2	RAB18, RAB3GAP1
extracellular exosome (GO:0070062)	1.89	2	RAB18, RAB3GAP1
extracellular region part (GO:0044421)	1.57	2	RAB18, RAB3GAP1
endoplasmic reticulum subcompartment (GO:0098827)	7.03	2	RAB18, RAB3GAP1
membrane-bounded vesicle (GO:0031988)	1.71	2	RAB18, RAB3GAP1
intracellular organelle (GO:0043229)	0.51	2	TBC1D20, RAB3GAP1
plasma membrane (GO:0005886)	1.39	2	RAB18, RAB3GAP2
macromolecular complex (GO:0032991)	1.35	2	RAB3GAP1, RAB3GAP2
extracellular vesicle (GO:1903561)	1.89	2	RAB18, RAB3GAP1
vesicle (GO:0031982)	1.64	2	RAB18, RAB3GAP1
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	TBC1D20, RAB3GAP1
endoplasmic reticulum tubular network (GO:0071782)	7.32	2	RAB18, RAB3GAP1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
endoplasmic reticulum part (GO:0044432)	-	2.73	0.023	TBC1D20, RAB18, RAB3GAP1
endoplasmic reticulum tubular network (GO:0071782)	-	7.32	0.0	RAB18, RAB3GAP1