Perlman syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor | C0796113 | DIS3L2 | Causal Pathogenic evidence from ClinVar | 10508986, 22306653, 23486540, 23613427, 28328139, 29950491 | ClinVar |
| DNMT3B | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 23486536 | - | ||
| Perlman syndrome | 2849 | DIS3L2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |