Microphthalmia with limb anomalies
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Microphthalmia with limb anomalies | 1106 | SMOC1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Waardenburg Anophthalmia Syndrome | C0599973 | SMOC1 | Causal Pathogenic evidence from ClinVar | 21194678, 21194680, 21750680, 23646827, 28085523 | ClinVar |
| FNBP4 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| PAX3 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 7726174, 8447316, 12949970 | - |