Gene table of VPS53 : VPS53, GARP complex subunit

Gene-disease associations table

Disease ID	Disease name	Source of annotation with VPS53	OMIM link	Number of associated genes	genes
PS607596	PONTOCEREBELLAR HYPOPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	13	AMPD2, EXOSC3, CLP1, SEPSECS, TSEN34, TSEN2, PCLO, VPS53, TSEN54, KCNT1, RARS2, VRK1, CHMP1A

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46