Knobloch syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Knobloch syndrome | 1571, C1849409 | COL18A1 | Causal Pathogenic evidence from ClinVar | 15714516, 21862674 | ClinVar |
| Knobloch Syndrome, Type I | C4551775 | COL18A1 | Causal Pathogenic evidence from ClinVar | 10942434, 22399687, 25456301, 28950998 | ClinVar |
| SLC19A1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 25456301 | - |