Hermansky-pudlak syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| HERMANSKY-PUDLAK SYNDROME | BLOC1S5 | Causal | — | GenCC | — | |
| HERMANSKY-PUDLAK SYNDROME 1 | HPS1 | Causal | ClinGen, ClinVar, Disgenet, HPO | |||
| HERMANSKY-PUDLAK SYNDROME 10 | AP3D1 | Causal | — | ClinGen, ClinVar, Disgenet, GenCC, HPO | ||
| HERMANSKY-PUDLAK SYNDROME 11 | BLOC1S5 | Causal | ClinGen, ClinVar, Disgenet, HPO | — | ||
| HERMANSKY-PUDLAK SYNDROME 2 | AP3B1 | Causal | ClinGen, ClinVar, Disgenet, GWAS catalog, HPO | |||
| HPS3 | Causal | — | Disgenet | — | ||
| HERMANSKY-PUDLAK SYNDROME 3 | HPS3 | Causal | CTD, ClinGen, ClinVar, Disgenet, HPO | — | ||
| HERMANSKY-PUDLAK SYNDROME 4 | HPS4 | Causal | ClinGen, ClinVar, Disgenet, GWAS catalog, HPO | |||
| HERMANSKY-PUDLAK SYNDROME 5 | HPS5 | Causal | ClinGen, ClinVar, Disgenet, HPO | — | ||
| HERMANSKY-PUDLAK SYNDROME 6 | HPS6 | Causal | ClinGen, ClinVar, Disgenet, HPO | — | ||
| HERMANSKY-PUDLAK SYNDROME 7 | DTNBP1 | Causal | CTD, ClinGen, ClinVar, Disgenet, HPO | |||
| HERMANSKY-PUDLAK SYNDROME 8 | BLOC1S3 | Causal | ClinGen, ClinVar, Disgenet, GWAS catalog, HPO | |||
| HERMANSKY-PUDLAK SYNDROME 9 | BLOC1S6 | Causal | CTD, ClinGen, ClinVar, Disgenet, HPO | |||
| HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS | HPS1 | Causal | GWAS catalog |