| Gene | Associated with JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|---|---|---|---|---|
| SMAD4 | ClinVar, OMIM, HUMSAVAR | HGNC link | 18q21.2 | 4 | 260350, 174900, 139210, 175050 |