Gene table of HPS6 : HPS6, biogenesis of lysosomal organelles complex 2 subunit 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with HPS6	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
GTP-dependent protein binding	GO:0030742	6.91
Rab GTPase binding	GO:0017137	4.96
enzyme binding	GO:0019899	2.27
Ras GTPase binding	GO:0017016	4.2
small GTPase binding	GO:0031267	4.13
GTPase binding	GO:0051020	4.05
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46