Hereditary hemorrhagic telangiectasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| HEREDITARY HEMORRHAGIC TELANGIECTASIA | ACVRL1 | Causal | Disgenet GenCC Orphanet | ||
| ENG | Causal | Disgenet Orphanet | |||
| RASA1 | Causal | — | Disgenet | ||
| CCNH | Unknown | — | Disgenet | ||
| GDF2 | Unknown | Disgenet Orphanet | |||
| SMAD4 | Unknown | Disgenet GWAS catalog Orphanet | |||
| HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION | ACVRL1 | Unknown | — | Disgenet | |
| ENG | Unknown | — | Disgenet | ||
| TELANGIECTASIA, HEREDITARY HEMORRHAGIC | ACVRL1 | Unknown | CTD | ||
| ENG | Unknown | CTD | |||
| GDF2 | Unknown | CTD | |||
| TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 | ENG | Causal | ClinGen ClinVar Disgenet GWAS catalog HPO | ||
| PSEN1 | Causal | — | Disgenet | ||
| GDF2 | Unknown | Disgenet HPO | |||
| RASA1 | Unknown | — | Disgenet | ||
| SMAD4 | Unknown | — | 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 |