Disease table of ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS OMIM ID: PS208085

Gene-disease associations table

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Gene	Associated with ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
VIPAS39	ClinVar, OMIM	HGNC link	14q24.3	1	PS208085
VPS33B	ClinVar, OMIM, HUMSAVAR	HGNC link	15q26.1	1	PS208085

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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

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
VPS33B	VIPAS39	Yes	5	VPS16, VPS18, VPS41, VPS11, YWHAB

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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
VPS33B	VIPAS39	Yes	binding	0

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

Interactions from CORUM

Interactions from CENSUS

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
VPS33B	VIPAS39	Yes	0

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

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 (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
protein binding (GO:0005515)	0.46	2	VPS33B, VIPAS39
binding (GO:0005488)	0.18	2	VPS33B, VIPAS39

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
autophagosome maturation (GO:0097352)	6.64	2	VPS33B, VIPAS39
vacuole fusion (GO:0097576)	6.51	2	VPS33B, VIPAS39
endosome to lysosome transport (GO:0008333)	5.99	2	VPS33B, VIPAS39
lysosomal transport (GO:0007041)	5.51	2	VPS33B, VIPAS39
organelle fusion (GO:0048284)	4.86	2	VPS33B, VIPAS39
vacuole organization (GO:0007033)	4.67	2	VPS33B, VIPAS39
endosomal transport (GO:0016197)	4.28	2	VPS33B, VIPAS39
vacuolar transport (GO:0007034)	4.18	2	VPS33B, VIPAS39
single-organism organelle organization (GO:1902589)	2.68	2	VPS33B, VIPAS39
intracellular transport (GO:0046907)	2.67	2	VPS33B, VIPAS39

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
endosome to lysosome transport (GO:0008333)	-	5.99	0.003	VPS33B, VIPAS39
lysosomal transport (GO:0007041)	-	5.51	0.009	VPS33B, VIPAS39
vacuolar transport (GO:0007034)	-	4.18	0.009	VPS33B, VIPAS39

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
HOPS complex (GO:0030897)	7.16	2	VPS33B, VIPAS39
(GO:0099023)	5.72	2	VPS33B, VIPAS39
recycling endosome (GO:0055037)	5.11	2	VPS33B, VIPAS39
late endosome (GO:0005770)	4.85	2	VPS33B, VIPAS39
early endosome (GO:0005769)	4.34	2	VPS33B, VIPAS39
endosome (GO:0005768)	3.25	2	VPS33B, VIPAS39
cytoplasmic, membrane-bounded vesicle (GO:0016023)	3.12	2	VPS33B, VIPAS39
vacuole (GO:0005773)	2.92	2	VPS33B, VIPAS39
cytoplasmic vesicle (GO:0031410)	2.87	2	VPS33B, VIPAS39
intracellular vesicle (GO:0097708)	2.86	2	VPS33B, VIPAS39

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
late endosome (GO:0005770)	-	4.85	0.001	VPS33B, VIPAS39
endosome (GO:0005768)	-	3.25	0.016	VPS33B, VIPAS39
cytoplasmic membrane-bounded vesicle (GO:0016023)	-	3.12	0.037	VPS33B, VIPAS39
cytoplasmic vesicle (GO:0031410)	-	2.87	0.049	VPS33B, VIPAS39

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