Perrault syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| PERRAULT SYNDROME | SGO2 | Unknown | GWAS catalog | |||
| PERRAULT SYNDROME 1 | GPN2 | Unknown | — | Disgenet | — | |
| HARS2 | Unknown | — | Disgenet | |||
| LARS2 | Unknown | — | Disgenet | |||
| MRPL49 | Unknown | — | Disgenet | |||
| TWNK | Unknown | — | Disgenet | |||
| PERRAULT SYNDROME 3 | HARS2 | Unknown | — | Disgenet | ||
| HSD17B4 | Unknown | — | Disgenet | |||
| LARS2 | Unknown | — | Disgenet | |||
| TWNK | Unknown | — | Disgenet | |||
| PERRAULT SYNDROME 4 | CLPP | Unknown | — | Disgenet | — | |
| HARS2 | Unknown | — | Disgenet | |||
| HSD17B4 | Unknown | — | Disgenet | |||
| TWNK | Unknown | — | Disgenet | |||
| PERRAULT SYNDROME TYPE 1 | CLPP | Unknown | Disgenet, Orphanet | — | ||
| ERAL1 | Unknown | Disgenet, Orphanet | ||||
| GGPS1 | Unknown | Disgenet, Orphanet | ||||
| HARS2 | Unknown | Disgenet, Orphanet | ||||
| HSD17B4 | Unknown | Disgenet, Orphanet | ||||
| LARS2 | Unknown | Disgenet, Orphanet | ||||
| PRORP | Unknown | Disgenet, Orphanet | ||||
| RMND1 | Unknown | Disgenet, Orphanet | — | |||
| TWNK | Unknown | Disgenet, Orphanet | ||||
| PERRAULT SYNDROME TYPE 2 | CLPP | Unknown | Orphanet | — | ||
| ERAL1 | Unknown | Orphanet | ||||
| GGPS1 | Unknown | Orphanet | ||||
| HARS2 | Unknown | Orphanet | ||||
| HSD17B4 | Unknown | Orphanet, ClinGen | ||||
| LARS2 | Unknown | Orphanet, ClinGen | ||||
| PRORP | Unknown | Orphanet | ||||
| RMND1 | Unknown | Orphanet | — | |||
| TWNK | Unknown | Orphanet |