Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
PELIZAEUS MERZBACHER LIKE DISEASE	C4274084	MAL	Unknown	—	Disgenet
PELIZAEUS MERZBACHER LIKE DISEASE DUE TO AIMP1 MUTATION	C5396702	AIMP1	Unknown	—	Disgenet
PELIZAEUS-MERZBACHER DISEASE	C0205711 312080 MESH:D020371	GJC2	Causal	—	Disgenet
		PLP1	Causal	18571143	CTD ClinVar Disgenet HPO
		RAB9B	Unknown	—	Disgenet
PELIZAEUS-MERZBACHER DISEASE IN FEMALE CARRIER	C5438815	PLP1	Unknown	—	Disgenet
PELIZAEUS-MERZBACHER DISEASE IN FEMALE CARRIERS	280229 MONDO:0017224	PLP1	Unknown	20301361	CTD Orphanet
PELIZAEUS-MERZBACHER DISEASE NULL SYNDROME	C5439441	PLP1	Unknown	—	Disgenet
PELIZAEUS-MERZBACHER DISEASE TYPE II	C5679776	PLP1	Unknown	—	Disgenet
PELIZAEUS-MERZBACHER DISEASE, ATYPICAL	C0751915	PLP1	Causal	—	Disgenet
PELIZAEUS-MERZBACHER DISEASE, ATYPICAL	C0751915	RAB9B	Unknown	—	Disgenet
PELIZAEUS-MERZBACHER DISEASE, CLASSIC FORM	280219 C0751916 MONDO:0017222	PLP1	Unknown	20301361	Disgenet Orphanet
PELIZAEUS-MERZBACHER DISEASE, CONNATAL FORM	280210 MONDO:0017221	PLP1	Unknown	20301361	GWAS catalog Orphanet
PELIZAEUS-MERZBACHER DISEASE, TRANSITIONAL FORM	280224 MONDO:0017223	PLP1	Unknown	20301361	Disgenet Orphanet
PELIZAEUS-MERZBACHER-LIKE DISEASE	280270	MAL	Unknown	35217805	Orphanet
PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION	280293	AIMP1	Unknown	21092922	Orphanet
PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO GJC2 MUTATION	280282	GJC2	Unknown	22669416 24374284	Orphanet
PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION	280288	HSPD1	Unknown	18571143	Orphanet
PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 2	C1850053	AIMP1	Unknown	—	Disgenet
PELIZEAUS-MERZBACHER SPECTRUM DISORDER	MONDO:0010714	PLP1	Unknown	—	ClinGen GenCC

Pelizaeus-merzbacher disease