Log in to bookmark this disease

Bookmark This Disease

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
All14 Causal9 Unknown12