Hemophagocytic lymphohistiocytosis
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | PRF1 | Causal | Orphanet | |||
| STX11 | Causal | Orphanet | ||||
| STXBP2 | Causal | Orphanet | ||||
| UNC13D | Causal | Orphanet | ||||
| FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 2 | PRF1 | Causal | ClinGen, ClinVar, GenCC | |||
| FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 3 | UNC13D | Causal | ClinGen, ClinVar, GenCC | |||
| FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 4 | STX11 | Causal | CTD, ClinGen, ClinVar | |||
| FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 5 | STXBP2 | Causal | — | ClinGen, ClinVar, GenCC | ||
| HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6 | RC3H1 | Causal | ClinVar, HPO | — |