Commissural facial cleft
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| COLOBOMA, OCULAR, AUTOSOMAL DOMINANT | PAX6 | Causal | — | ClinVar | |
| COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | SALL2 | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS | MITF | Causal | CTD ClinVar Disgenet HPO | ||
| COMMISSURAL FACIAL CLEFT | PTCH2 | Unknown | GWAS catalog | ||
| SPECC1L | Unknown | Orphanet |