Achondrogenesis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Achondrogenesis type 2 | 93296, C0220685 | COL2A1 | Causal Pathogenic evidence from ClinVar | 2543071, 2572591, 7741714, 7757081, 7757086, 7829510, 10745044, 10797431, 15054848, 15316962, 17994563, 20513134, 21922596 | ClinVar |
| Achondrogenesis type 1B | 93298 | SLC26A2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Achondrogenesis, type IB (disorder) | C0265274 | SLC26A2 | Causal Pathogenic evidence from ClinVar | 8528239, 8571951, 8931695, 9342225, 10465113, 10482955, 11241838, 11448940, 12525546, 12966518, 15294877, 15316973, 16642506, 18925670, 20219950, 20525296, 20592910, 21077202, 21077204, 21155763, 21922596, 26375458 | ClinVar |
| Achondrogenesis type 1A | 93299, C0265273 | TRIP11 | Causal Pathogenic evidence from ClinVar | 20089971 | ClinVar |