Hereditary hemorrhagic telangiectasia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Hereditary hemorrhagic telangiectasia | C0039445, 774 | ACVRL1 | 20135064 |
| ENG | 20414677, 23722869, 22991266, 20135064, 16705692, 15375013, 9245986, 15879500, 19508727, 10545596, 20224041, 25312062, 16542389, 25970827, 15517393, 23919827, 12015308, 15712270, 15521985, 18607909, 15115879, 12673790, 9554745, 16690726, 20824275, 15024723, 22022569, 15712271, 17384219, 12920067, 15849752, 20656886, 24001356, 22385575, 15880681, 19767588, 10348742, 11440987, 19270816, 21158752, 15907823, 24196379, 20364125, 15702480, 18498373, 22192717, 10625079, 7894484, 15266205, 26699722, 11793473, 16752392, 20501893, 30763665, 17786384, 9366572, 25080347, 8162075, 10749981, 21967607 | ||
| GDF2 | 23972370, 26801773 | ||
| SMAD4 | 15754356 |