Hereditary spastic paraplegia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) | C2749936 | ERLIN2 | Causal Pathogenic evidence from ClinVar | 21330303, 23109145, 25977983, 28832565, 29528531 | ClinVar |
| SPASTIC PARAPLEGIA 2, X-LINKED (disorder) | C1839264 | PLP1 | Causal Pathogenic evidence from ClinVar | 7488049, 7522741, 7531827, 8012387, 8780101, 8956049, 9056547, 9489796, 10319897, 11093273, 12601703, 14452137, 15450775, 16287154, 17438221, 24103481, 25655951 | ClinVar |