Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
PERRAULT SYNDROME	MONDO:0017312	CLPP	Causal	23541340	GWAS catalog
		ERAL1	Causal	28449065	Disgenet
		HARS2	Causal	21464306	GWAS catalog
		HSD17B4	Causal	20673864 23181892 24553428 24602372 26970254 27790638 28263850 28830375	ClinGen GWAS catalog
		LARS2	Causal	23541342 26537577 26657938 26970254 27650058 28000701 28263850 28832386 29205794 30737337 31274036 32399598 32442335 32767731 32842620 36450801	ClinGen GWAS catalog
		TWNK	Causal	25355836	GWAS catalog
		SGO2	Unknown	27629923	GWAS catalog
PERRAULT SYNDROME 1	C4551721 233400 MONDO:0009300	CLPP	Causal	—	Disgenet
		DAP3	Causal	—	Disgenet
		FBN1	Causal	—	Disgenet
		HSD17B4	Causal	10748062 20673864 26970254 27528516 28830375 32709422 32961396 34234304	ClinVar Disgenet GWAS catalog HPO
		PRORP	Causal	—	Disgenet
		GPN2	Unknown	—	Disgenet
		HARS2	Unknown	—	Disgenet
		LARS2	Unknown	—	Disgenet
		MRPL49	Unknown	—	Disgenet
		TWNK	Unknown	—	Disgenet
PERRAULT SYNDROME 2	614926 C3554105 MONDO:0013972	HARS2	Causal	21464306 27650058	ClinGen ClinVar Disgenet HPO
PERRAULT SYNDROME 3	614129 C3808414 MONDO:0013588 OMIM:614129	CLPP	Causal	23541340 23851121 25956234 26970254 27087618 27650058 27899912 28604674	CTD ClinGen ClinVar Disgenet GWAS catalog HPO
		HARS2	Unknown	—	Disgenet
		HSD17B4	Unknown	—	Disgenet
		LARS2	Unknown	—	Disgenet
		TWNK	Unknown	—	Disgenet
PERRAULT SYNDROME 4	615300 C3809105 MONDO:0014126	LARS2	Causal	23541342 26537577 26657938 26970254 28832386	ClinVar Disgenet HPO
		CLPP	Unknown	—	Disgenet
		HARS2	Unknown	—	Disgenet
		HSD17B4	Unknown	—	Disgenet
		TWNK	Unknown	—	Disgenet
PERRAULT SYNDROME 5	616138 C4015307 MONDO:0014504	TWNK	Causal	—	ClinVar Disgenet HPO
PERRAULT SYNDROME 6	617565 C4479656 MONDO:0033047	ERAL1	Causal	28449065	ClinVar Disgenet GWAS catalog HPO
PERRAULT SYNDROME 7	621101 MONDO:0976232	DAP3	Causal	—	ClinVar HPO
PERRAULT SYNDROME TYPE 1	642945 C5816798	CLPP	Unknown	26970254	Disgenet Orphanet
		ERAL1	Unknown	26970254	Disgenet Orphanet
		GGPS1	Unknown	32403198	Disgenet Orphanet
		HARS2	Unknown	21464306	Disgenet Orphanet
		HSD17B4	Unknown	20673864	Disgenet Orphanet
		LARS2	Unknown	23541342	Disgenet Orphanet
		PRORP	Unknown	34715011	Disgenet Orphanet
		RMND1	Unknown	34338890	Disgenet Orphanet
		TWNK	Unknown	25355836	Disgenet Orphanet
PERRAULT SYNDROME TYPE 2	642976	CLPP	Unknown	23541340	Orphanet
		ERAL1	Unknown	26970254	Orphanet
		GGPS1	Unknown	32403198	Orphanet
		HARS2	Unknown	21464306	Orphanet
		HSD17B4	Unknown	20673864	Orphanet
		LARS2	Unknown	23541342	Orphanet
		PRORP	Unknown	34715011	Orphanet
		RMND1	Unknown	34338890	Orphanet
		TWNK	Unknown	25355836	Orphanet

Perrault syndrome