Rhabdoid tumor predisposition syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Rhabdoid tumor predisposition syndrome | C2985524 | SMARCA4 | Causal Pathogenic evidence from ClinVar | 20137775, 21566516 | ClinVar |
| SMARCB1 | Causal Pathogenic evidence from ClinVar | 10521299 | ClinVar | ||
| Rhabdoid Tumor Predisposition Syndrome 2 | C2750074 | SMARCA4 | Causal Pathogenic evidence from ClinVar | 11163203, 20137775, 23540691, 23775540, 24658001, 24658002, 24658004 | ClinVar |
| RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) | C1836327 | SMARCB1 | Causal Pathogenic evidence from ClinVar | 10521299, 10739763, 11095756, 12016529, 15105654, 16099835, 18647326, 19124645, 19902524, 20848638, 21108436, 21208904, 22426308, 23540691, 23815551, 23929686, 24933152, 26998479 | ClinVar |