Multisystemic smooth muscle dysfunction syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Multisystemic smooth muscle dysfunction syndrome | 404463 | ACTA2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME | C3151201 | ACTA2 | Causal Pathogenic evidence from ClinVar | 17994018, 20734336, 20970362, 22302747, 22752479, 22831780, 22946110, 26888179 | ClinVar |
| COL5A2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 28868310, 29543232 | - | ||
| STAMBPL1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 20734336, 20970362, 22302747, 22752479, 22831780, 22946110 | - |