Gene table of HPS5 : HPS5, biogenesis of lysosomal organelles complex 2 subunit 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with HPS5	OMIM link	Number of associated genes	genes
PS203300	HERMANSKY-PUDLAK SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	9	BLOC1S6, HPS5, HPS3, HPS6, AP3B1, DTNBP1, BLOC1S3, HPS1, HPS4

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