Lethal tight skin contracture syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Lethal tight skin contracture syndrome (disorder) | C0406585 | ZMPSTE24 | Causal Pathogenic evidence from ClinVar | 15843403, 18470519, 19020898 | ClinVar |
| LMNA | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 11799477, 18470519, 19020898, 20186049, 27532257 | - |