Potocki-lupski syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Potocki-Lupski syndrome | C2931246 | FLCN | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| MPRIP | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| RAI1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 17517686, 20188345 | - |