Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY | C1857316 | TREM2 | Causal Pathogenic evidence from ClinVar | 12080485, 12925681, 15883308, 18546367 | ClinVar |
| TYROBP | Causal Pathogenic evidence from ClinVar | 10888890, 12370476 | ClinVar | ||
| POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 | C4721893 | TREM2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| TYROBP | Causal Pathogenic evidence from ClinVar | 24357685 | ClinVar | ||
| POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 | C4748657 | TREM2 | Causal Pathogenic evidence from ClinVar | 12080485, 12754369, 12925681, 15883308, 23399524, 24357685, 25615530, 26891767, 27995897, 28768830, 29142083 | ClinVar |