Bietti crystalline dystrophy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | C1859486 | ABCA4 | Causal Pathogenic evidence from ClinVar | 30718709 | ClinVar |
| CYP4V2 | Causal Pathogenic evidence from ClinVar | 15042513, 15860296, 15937078, 17962476, 19508456, 21565171, 22693542, 22772592, 23661369, 23793346, 24739949, 25356976, 25593508, 25611614, 25629076, 26085992, 26865810, 26971461, 28051075 | ClinVar | ||
| KLKB1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| Bietti crystalline dystrophy | 41751 | CYP4V2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |