Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Mainzer-Saldino Disease | C1849437 | IFT140 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 22503633, 23418020, 24009529, 26216056, 28288023, 28724397 | - |
| IFT172 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 24140113 | - |