Hereditary diffuse leukoencephalopathy with spheroids
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Hereditary Diffuse Leukoencephalopathy with Spheroids | C3711381 | CSF1R | Causal Pathogenic evidence from ClinVar | 2470618, 22197934, 23411710, 23649896, 23816250, 24034409, 24094860, 24198292, 24336230, 24357685, 24532199, 25012610, 25311247, 26633545 | ClinVar |
| AARS2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 27749956 | - |