Holt-oram syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Holt-Oram syndrome | 392, C0265264 | TBX5 | Causal Pathogenic evidence from ClinVar | 8730285, 8988164, 8988165, 10077612, 10842287, 11431700, 11555635, 12499378, 12818525, 15735645, 19648116, 20450920, 20519243, 21897873, 26938784, 29755943 | ClinVar |
| SALL4 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 30067223 | - | ||
| TGFB2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 22772368, 22772371, 23102774, 25644172, 26854089 | - |