Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HERMANSKI-PUDLAK SYNDROME	C0079504 MESH:D022861	AP3B1	Unknown	—	Disgenet	Lysosome Golgi Associated Vesicle Biogenesis Signaling by BRAF and RAF fusions
		AP3D1	Unknown	—	CTD, Disgenet	Lysosome
		BLOC1S3	Unknown	—	CTD, Disgenet	Golgi Associated Vesicle Biogenesis
		BLOC1S5	Unknown	—	Disgenet	—
		BLOC1S6	Unknown	—	CTD, Disgenet	Golgi Associated Vesicle Biogenesis
		DTNBP1	Unknown	—	CTD, Disgenet	Golgi Associated Vesicle Biogenesis
		HPS1	Unknown	—	Disgenet	RAB GEFs exchange GTP for GDP on RABs
		HPS3	Unknown	—	CTD, Disgenet	—
		HPS4	Unknown	—	CTD, Disgenet	RAB GEFs exchange GTP for GDP on RABs
		HPS5	Unknown	—	CTD, Disgenet	—
		HPS6	Unknown	—	CTD, Disgenet	—
HERMANSKY PUDLAK SYNDROME 2	MESH:C537709	AP3B1	Unknown	—	CTD	Lysosome Golgi Associated Vesicle Biogenesis Signaling by BRAF and RAF fusions
HERMANSKY-PUDLAK SYNDROME	MONDO:0019312	BLOC1S5	Causal	—	GenCC	—
HERMANSKY-PUDLAK SYNDROME 1	203300 MONDO:0008748	HPS1	Causal	10971344 8896559 9705234 9497254 8274781 21833017 10631210 19398212 16185271 24766090	ClinGen, ClinVar, Disgenet, HPO	RAB GEFs exchange GTP for GDP on RABs
HERMANSKY-PUDLAK SYNDROME 10	617050 C4310746 MONDO:0014885	AP3D1	Causal	—	ClinGen, ClinVar, Disgenet, GenCC, HPO	Lysosome
HERMANSKY-PUDLAK SYNDROME 11	619172 C5436936 MONDO:0030903	BLOC1S5	Causal	11912185 12923531 32565547 34058075 34685610	ClinGen, ClinVar, Disgenet, HPO	—
HERMANSKY-PUDLAK SYNDROME 2	608233 C1842362 MONDO:0011997	AP3B1	Causal	10024875 28585318	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Lysosome Golgi Associated Vesicle Biogenesis Signaling by BRAF and RAF fusions
		HPS3	Causal	—	Disgenet	—
		AP3D1	Unknown	26744459 32086639 30472485 32048120	Disgenet	Lysosome
HERMANSKY-PUDLAK SYNDROME 3	614072 C3888001 MONDO:0013555	HPS3	Causal	11590544 11455388 24766090	CTD, ClinGen, ClinVar, Disgenet, HPO	—
HERMANSKY-PUDLAK SYNDROME 4	614073 C3484357 MONDO:0013556	HPS4	Causal	11836498	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	RAB GEFs exchange GTP for GDP on RABs
HERMANSKY-PUDLAK SYNDROME 5	614074 C3888004 MONDO:0013557	HPS5	Causal	12548288 28296950	ClinGen, ClinVar, Disgenet, HPO	—
HERMANSKY-PUDLAK SYNDROME 6	614075 C3888007 MONDO:0013558	HPS6	Causal	12548288	ClinGen, ClinVar, Disgenet, HPO	—
HERMANSKY-PUDLAK SYNDROME 7	614076 C3279756 MONDO:0013559	DTNBP1	Causal	28259707 23364359 12923531	CTD, ClinGen, ClinVar, Disgenet, HPO	Golgi Associated Vesicle Biogenesis
HERMANSKY-PUDLAK SYNDROME 8	614077 C3888026 MONDO:0013560	BLOC1S3	Causal	15265785 16385460 22709368 29345414	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Golgi Associated Vesicle Biogenesis
HERMANSKY-PUDLAK SYNDROME 9	614171 C3280026 MONDO:0013606	BLOC1S6	Causal	10610180 15102850 22461475 26575419 29054114 32245340 33543539	CTD, ClinGen, ClinVar, Disgenet, HPO	Golgi Associated Vesicle Biogenesis
HERMANSKY-PUDLAK SYNDROME DUE TO AP3B1 DEFICIENCY	664500 C5889871	AP3B1	Unknown	10024875	Disgenet, Orphanet	Lysosome Golgi Associated Vesicle Biogenesis Signaling by BRAF and RAF fusions
HERMANSKY-PUDLAK SYNDROME DUE TO BLOC-1 DEFICIENCY	231531 C5680913	BLOC1S3	Unknown	16420244 20301464 27514596	Disgenet, Orphanet	Golgi Associated Vesicle Biogenesis
		BLOC1S5	Unknown	16420244 20301464 27514596	Disgenet, Orphanet	—
		BLOC1S6	Unknown	16420244 20301464 27514596	Disgenet, Orphanet	Golgi Associated Vesicle Biogenesis
		DTNBP1	Unknown	12923531	Disgenet, Orphanet	Golgi Associated Vesicle Biogenesis
HERMANSKY-PUDLAK SYNDROME DUE TO BLOC-2 DEFICIENCY	231512 C5679833	HPS3	Unknown	—	Disgenet, Orphanet	—
		HPS5	Unknown	—	Disgenet, Orphanet	—
		HPS6	Unknown	—	Disgenet, Orphanet	—
HERMANSKY-PUDLAK SYNDROME DUE TO BLOC-3 DEFICIENCY	231500 C5679834	HPS1	Unknown	—	Disgenet, Orphanet	RAB GEFs exchange GTP for GDP on RABs
HERMANSKY-PUDLAK SYNDROME DUE TO BLOC-3 DEFICIENCY	231500 C5679834	HPS4	Unknown	—	Disgenet, Orphanet	RAB GEFs exchange GTP for GDP on RABs
HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS	MONDO:0016501	HPS1	Causal	neant	GWAS catalog	RAB GEFs exchange GTP for GDP on RABs
HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS	MONDO:0016501	HPS4	Unknown	neant	GWAS catalog	RAB GEFs exchange GTP for GDP on RABs
HERMANSKY-PUDLAK SYNDROME WITHOUT PULMONARY FIBROSIS	MONDO:0016502	HPS3	Unknown	neant	Disgenet	—
		HPS5	Unknown	neant	Disgenet	—
		HPS6	Unknown	neant	Disgenet	—

Hermansky-pudlak syndrome

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