Rothmund-thomson syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| ROTHMUND-THOMSON SYNDROME | DNA2 | Causal | — | Disgenet | ||
| RECQL4 | Causal | CTD, ClinGen, Disgenet, GWAS catalog | — | |||
| 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 | — |