Rothmund-thomson syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Rothmund-Thomson syndrome type 1 | 221008 | ANAPC1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Rothmund-Thomson syndrome | C0032339 | RECQL4 | Causal Pathogenic evidence from ClinVar | 9934984, 10319867, 10678659, 11471165, 12734318, 12838562, 12915449, 15703196, 16630167, 17250521, 18616953, 19291770, 19567405, 20503338 | ClinVar |
| Rothmund-Thomson syndrome type 2 | 221016 | RECQL4 | Causal Pathogenic evidence from ClinVar | - | ClinVar |