Hermansky-pudlak syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| HERMANSKI-PUDLAK SYNDROME | AP3B1 | Unknown | — | Disgenet | ||
| AP3D1 | Unknown | — | CTD, Disgenet | |||
| BLOC1S3 | Unknown | — | CTD, Disgenet | |||
| BLOC1S5 | Unknown | — | Disgenet | — | ||
| BLOC1S6 | Unknown | — | CTD, Disgenet | |||
| DTNBP1 | Unknown | — | CTD, Disgenet | |||
| HPS1 | Unknown | — | Disgenet | |||
| HPS3 | Unknown | — | CTD, Disgenet | — | ||
| HPS4 | Unknown | — | CTD, Disgenet | |||
| HPS5 | Unknown | — | CTD, Disgenet | — | ||
| HPS6 | Unknown | — | CTD, Disgenet | — | ||
| HERMANSKY PUDLAK SYNDROME 2 | AP3B1 | Unknown | — | CTD | ||
| HERMANSKY-PUDLAK SYNDROME 2 | AP3D1 | Unknown | Disgenet | |||
| HERMANSKY-PUDLAK SYNDROME DUE TO AP3B1 DEFICIENCY | AP3B1 | Unknown | Disgenet, Orphanet | |||
| HERMANSKY-PUDLAK SYNDROME DUE TO BLOC-1 DEFICIENCY | BLOC1S3 | Unknown | Disgenet, Orphanet | |||
| BLOC1S5 | Unknown | Disgenet, Orphanet | — | |||
| BLOC1S6 | Unknown | Disgenet, Orphanet | ||||
| DTNBP1 | Unknown | Disgenet, Orphanet | ||||
| HERMANSKY-PUDLAK SYNDROME DUE TO BLOC-2 DEFICIENCY | HPS3 | Unknown | — | Disgenet, Orphanet | — | |
| HPS5 | Unknown | — | Disgenet, Orphanet | — | ||
| HPS6 | Unknown | — | Disgenet, Orphanet | — | ||
| HERMANSKY-PUDLAK SYNDROME DUE TO BLOC-3 DEFICIENCY | HPS1 | Unknown | — | Disgenet, Orphanet | ||
| HPS4 | Unknown | — | Disgenet, Orphanet | |||
| HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS | HPS4 | Unknown | GWAS catalog | |||
| HERMANSKY-PUDLAK SYNDROME WITHOUT PULMONARY FIBROSIS | HPS3 | Unknown | Disgenet | — | ||
| HPS5 | Unknown | Disgenet | — | |||
| HPS6 | Unknown | Disgenet | — |