Hereditary hemorrhagic telangiectasia
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| HEREDITARY HEMORRHAGIC TELANGIECTASIA | ACVRL1 | Causal | Disgenet, GenCC, Orphanet | |||
| ENG | Causal | Disgenet, Orphanet | — | |||
| RASA1 | Causal | — | Disgenet | |||
| TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 | ENG | Causal | ClinGen, ClinVar, Disgenet, GWAS catalog, HPO | — | ||
| PSEN1 | Causal | — | Disgenet | |||
| TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 | ACVRL1 | Causal | CTD, ClinGen, ClinVar, HPO | |||
| TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 | GDF2 | Causal | CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO |