Langer-giedion syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Langer-Giedion Syndrome | C0023003 | TRPS1 | Causal Pathogenic evidence from ClinVar | 11708946 | ClinVar |
| EXT1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 7550340 | - | ||
| MAPK10 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 23329067 | - |