Farber disease
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Farber disease | 333 | ASAH1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Farber Lipogranulomatosis | C0268255 | ASAH1 | Causal Pathogenic evidence from ClinVar | 8955159, 10610716, 10993717, 11241842, 12638942, 15331184, 16951918, 20609603, 21893389, 21982811, 22703880, 23707712, 24164096, 24355074, 26945816, 27411168 | ClinVar |
| SOD2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 10428046 | - |