Axenfeld-rieger syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES | FOXC1 | Causal | — | Disgenet | |
| PITX2 | Causal | — | Disgenet | ||
| AXENFELD-RIEGER SYNDROME | COL4A1 | Unknown | CTD | ||
| FOXC1 | Unknown | Disgenet Orphanet | |||
| PITX2 | Unknown | Disgenet GWAS catalog Orphanet | |||
| PRDM5 | Unknown | Disgenet | |||
| AXENFELD-RIEGER SYNDROME TYPE 1 | PITX2 | Causal | ClinVar GWAS catalog | ||
| AXENFELD-RIEGER SYNDROME TYPE 3 | FOXC1 | Causal | ClinVar GWAS catalog | ||
| AXENFELD-RIEGER SYNDROME, TYPE 1 | FOXC1 | Unknown | CTD | ||
| PAX6 | Unknown | CTD | |||
| PITX2 | Unknown | CTD Disgenet HPO | |||
| PRDM5 | Unknown | — | Disgenet | ||
| AXENFELD-RIEGER SYNDROME, TYPE 3 | FOXC1 | Unknown | — | CTD Disgenet HPO | |
| IFT140 | Unknown | — | Disgenet |