Gene table of HPS1 : HPS1, biogenesis of lysosomal organelles complex 3 subunit 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with HPS1	OMIM link	Number of associated genes	genes
PS203300	HERMANSKY-PUDLAK SYNDROME	ClinVar, OMIM	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

GO term	GO ID	GO IC
protein dimerization activity	GO:0046983	2.72
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46