Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
PERRAULT SYNDROME	MONDO:0017312	CLPP	Causal	23541340	GWAS catalog	—
		ERAL1	Causal	28449065	Disgenet	Mitochondrial translation elongation Mitochondrial translation termination
		HARS2	Causal	21464306	GWAS catalog	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		HSD17B4	Causal	20673864 23181892 24553428 24602372 26970254 27790638 28263850 28830375	ClinGen, GWAS catalog	Primary bile acid biosynthesis Biosynthesis of unsaturated fatty acids Metabolic pathways +7 more
		LARS2	Causal	23541342 26537577 26657938 26970254 27650058 28000701 28263850 28832386 29205794 30737337 31274036 32399598 32442335 32767731 32842620 36450801	ClinGen, GWAS catalog	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		TWNK	Causal	25355836	GWAS catalog	Spinocerebellar ataxia Transcriptional activation of mitochondrial biogenesis
		SGO2	Unknown	27629923	GWAS catalog	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +3 more
PERRAULT SYNDROME 1	C4551721 233400 MONDO:0009300	CLPP	Causal	—	Disgenet	—
		DAP3	Causal	—	Disgenet	Mitochondrial translation elongation Mitochondrial translation termination
		FBN1	Causal	—	Disgenet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		HSD17B4	Causal	10748062 20673864 26970254 27528516 28830375 32709422 32961396 34234304	ClinVar, Disgenet, GWAS catalog, HPO	Primary bile acid biosynthesis Biosynthesis of unsaturated fatty acids Metabolic pathways +7 more
		PRORP	Causal	—	Disgenet	tRNA processing in the mitochondrion tRNA modification in the mitochondrion rRNA processing in the mitochondrion
		GPN2	Unknown	—	Disgenet	—
		HARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		LARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		MRPL49	Unknown	—	Disgenet	Mitochondrial translation elongation Mitochondrial translation termination
		TWNK	Unknown	—	Disgenet	Spinocerebellar ataxia Transcriptional activation of mitochondrial biogenesis
PERRAULT SYNDROME 2	614926 C3554105 MONDO:0013972	HARS2	Causal	21464306 27650058	ClinGen, ClinVar, Disgenet, HPO	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
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	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		HSD17B4	Unknown	—	Disgenet	Primary bile acid biosynthesis Biosynthesis of unsaturated fatty acids Metabolic pathways +7 more
		LARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		TWNK	Unknown	—	Disgenet	Spinocerebellar ataxia Transcriptional activation of mitochondrial biogenesis
PERRAULT SYNDROME 4	615300 C3809105 MONDO:0014126	LARS2	Causal	23541342 26537577 26657938 26970254 28832386	ClinVar, Disgenet, HPO	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		CLPP	Unknown	—	Disgenet	—
		HARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		HSD17B4	Unknown	—	Disgenet	Primary bile acid biosynthesis Biosynthesis of unsaturated fatty acids Metabolic pathways +7 more
		TWNK	Unknown	—	Disgenet	Spinocerebellar ataxia Transcriptional activation of mitochondrial biogenesis
PERRAULT SYNDROME 5	616138 C4015307 MONDO:0014504	TWNK	Causal	—	ClinVar, Disgenet, HPO	Spinocerebellar ataxia Transcriptional activation of mitochondrial biogenesis
PERRAULT SYNDROME 6	617565 C4479656 MONDO:0033047	ERAL1	Causal	28449065	ClinVar, Disgenet, GWAS catalog, HPO	Mitochondrial translation elongation Mitochondrial translation termination
PERRAULT SYNDROME 7	621101 MONDO:0976232	DAP3	Causal	—	ClinVar, HPO	Mitochondrial translation elongation Mitochondrial translation termination
PERRAULT SYNDROME TYPE 1	642945 C5816798	CLPP	Unknown	26970254	Disgenet, Orphanet	—
		ERAL1	Unknown	26970254	Disgenet, Orphanet	Mitochondrial translation elongation Mitochondrial translation termination
		GGPS1	Unknown	32403198	Disgenet, Orphanet	Terpenoid backbone biosynthesis Metabolic pathways Cholesterol biosynthesis +1 more
		HARS2	Unknown	21464306	Disgenet, Orphanet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		HSD17B4	Unknown	20673864	Disgenet, Orphanet	Primary bile acid biosynthesis Biosynthesis of unsaturated fatty acids Metabolic pathways +7 more
		LARS2	Unknown	23541342	Disgenet, Orphanet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		PRORP	Unknown	34715011	Disgenet, Orphanet	tRNA processing in the mitochondrion tRNA modification in the mitochondrion rRNA processing in the mitochondrion
		RMND1	Unknown	34338890	Disgenet, Orphanet	—
		TWNK	Unknown	25355836	Disgenet, Orphanet	Spinocerebellar ataxia Transcriptional activation of mitochondrial biogenesis
PERRAULT SYNDROME TYPE 2	642976	CLPP	Unknown	23541340	Orphanet	—
		ERAL1	Unknown	26970254	Orphanet	Mitochondrial translation elongation Mitochondrial translation termination
		GGPS1	Unknown	32403198	Orphanet	Terpenoid backbone biosynthesis Metabolic pathways Cholesterol biosynthesis +1 more
		HARS2	Unknown	21464306	Orphanet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		HSD17B4	Unknown	20673864	Orphanet, ClinGen	Primary bile acid biosynthesis Biosynthesis of unsaturated fatty acids Metabolic pathways +7 more
		LARS2	Unknown	23541342	Orphanet, ClinGen	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		PRORP	Unknown	34715011	Orphanet	tRNA processing in the mitochondrion tRNA modification in the mitochondrion rRNA processing in the mitochondrion
		RMND1	Unknown	34338890	Orphanet	—
		TWNK	Unknown	25355836	Orphanet	Spinocerebellar ataxia Transcriptional activation of mitochondrial biogenesis

Perrault syndrome

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