Rothmund-thomson syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ROTHMUND THOMSON SYNDROME TYPE 1 | ANAPC1 | Unknown | — | Disgenet | |
| ROTHMUND-THOMSON SYNDROME | DNA2 | Causal | — | Disgenet | |
| RECQL4 | Causal | CTD ClinGen Disgenet GWAS catalog | |||
| ALDH18A1 | Unknown | — | Disgenet | ||
| ANAPC1 | Unknown | — | Disgenet | ||
| ATP6V0A2 | Unknown | — | Disgenet | ||
| ATP6V1A | Unknown | — | Disgenet | ||
| ATP6V1E1 | Unknown | — | Disgenet | ||
| CRIPT | Unknown | — | Disgenet | ||
| EFEMP2 | Unknown | — | Disgenet | ||
| ELN | Unknown | — | Disgenet | ||
| FBLN5 | Unknown | — | Disgenet | ||
| PYCR1 | Unknown | — | Disgenet | ||
| ROTHMUND-THOMSON SYNDROME TYPE 1 | ANAPC1 | Causal | CTD ClinGen ClinVar Orphanet | ||
| ROTHMUND-THOMSON SYNDROME TYPE 2 | RECQL4 | Causal | ClinVar GWAS catalog Orphanet | ||
| ROTHMUND-THOMSON SYNDROME TYPE 3 | CRIPT | Causal | GWAS catalog | ||
| ROTHMUND-THOMSON SYNDROME, TYPE 1 | ANAPC1 | Unknown | — | HPO | |
| ROTHMUND-THOMSON SYNDROME, TYPE 2 | RECQL4 | Unknown | — | Disgenet HPO | |
| ROTHMUND-THOMSON SYNDROME, TYPE 3 | CRIPT | Unknown | — | ClinVar Disgenet HPO | |
| ROTHMUND-THOMSON SYNDROME, TYPE 4 | DNA2 | Unknown | — | ClinVar Disgenet HPO |