Coloboma
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | C4011974 | SALL2 | Causal Pathogenic evidence from ClinVar | 24412933 | ClinVar |
| Coloboma, cleft lip-palate and mental retardation syndrome | C0795902 | YAP1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 24462371 | - |