Niemann-pick disease
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL | SMPD1 | Causal | — | Disgenet | ||
| NIEMANN-PICK DISEASE, TYPE A | SMPD1 | Causal | — | CTD, ClinVar, Disgenet, HPO | ||
| NIEMANN-PICK DISEASE, TYPE B | SMPD1 | Causal | — | CTD, ClinVar, Disgenet, HPO | ||
| NIEMANN-PICK DISEASE, TYPE C | NPC1 | Causal | CTD, Disgenet | |||
| NPC2 | Causal | — | Disgenet | |||
| NIEMANN-PICK DISEASE, TYPE C1 | NPC1 | Causal | ClinGen, ClinVar, Disgenet, GenCC, HPO | |||
| NPC2 | Causal | — | Disgenet | |||
| SMPD1 | Causal | — | Disgenet | |||
| NIEMANN-PICK DISEASE, TYPE C2 | NPC1 | Causal | — | Disgenet | ||
| NPC2 | Causal | CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO |