Myofibromatosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Infantile myofibromatosis | 2591, C0432284 | NOTCH3 | Causal Pathogenic evidence from ClinVar | 23731542 | ClinVar |
| PDGFRB | Causal Pathogenic evidence from ClinVar | 23731537, 23731542, 28334876 | ClinVar | ||
| Myofibromatosis | C0206648 | NOTCH3 | Causal Pathogenic evidence from ClinVar | 23731542 | ClinVar |
| PDGFRB | Causal Pathogenic evidence from ClinVar | 23731537 | ClinVar | ||
| MYOFIBROMATOSIS, INFANTILE, 2 | C3809084 | NOTCH3 | Causal Pathogenic evidence from ClinVar | 23731542 | ClinVar |
| MYOFIBROMATOSIS, INFANTILE, 1 | C4551572 | PDGFRB | Causal Pathogenic evidence from ClinVar | 23731537, 23731542, 26279204, 26455322, 28183292 | ClinVar |