Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
EPILEPSY, PARTIAL, WITH VARIABLE FOCI	C1858477 MESH:C565785	DEPDC5	Unknown	23542697 23542701	CTD, Disgenet	mTOR signaling pathway Amino acids regulate mTORC1
		NPRL2	Unknown	—	CTD, Disgenet	mTOR signaling pathway Amino acids regulate mTORC1
		NPRL3	Unknown	—	CTD, Disgenet	mTOR signaling pathway Amino acids regulate mTORC1
EPILEPSY, PROGRESSIVE MYOCLONIC 2B	C1850764	NHLRC1	Unknown	—	Disgenet	Ubiquitin mediated proteolysis Glycogen synthesis Myoclonic epilepsy of Lafora
EPILEPSY, PROGRESSIVE MYOCLONIC 3	C2673257	CLN3	Unknown	—	Disgenet	Lysosome
EPILEPSY, PROGRESSIVE MYOCLONIC 3	C2673257	KCTD7	Unknown	—	Disgenet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
EPILEPSY, PROGRESSIVE MYOCLONIC 7	616187	KCNC1	Unknown	—	HPO	Voltage gated Potassium channels
EPILEPSY, PROGRESSIVE MYOCLONIC, 12	C5543069 619191 MONDO:0030936	PRMT7	Unknown	—	Disgenet	RMTs methylate histone arginines
EPILEPSY, PROGRESSIVE MYOCLONIC, 12	C5543069 619191 MONDO:0030936	SLC7A6OS	Unknown	33085104	ClinVar, Disgenet, GWAS catalog, HPO	—
EPILEPSY, PROGRESSIVE MYOCLONIC, 1B	612437 MONDO:0012904	PRICKLE1	Causal	18976727	ClinVar, HPO, Orphanet	Wnt signaling pathway Asymmetric localization of PCP proteins
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS	611726 OMIM:611726	KCTD7	Unknown	—	CTD, HPO	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE	254900 OMIM:254900	SCARB2	Unknown	—	CTD, HPO	Lysosome Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
EPILEPSY, PROGRESSIVE MYOCLONIC, 6	614018	GOSR2	Unknown	—	HPO	SNARE interactions in vesicular transport COPII-mediated vesicle transport XBP1(S) activates chaperone genes +3 more
EPILEPSY, PROGRESSIVE MYOCLONIC, 8	616230	CERS1	Unknown	—	HPO	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
EPILEPSY, PROGRESSIVE MYOCLONIC, 9	616540	LMNB2	Unknown	—	HPO	Apoptosis Cytoskeleton in muscle cells
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 1	308	CSTB	Unknown	20301321 9012407	Orphanet	Neutrophil degranulation
		PRICKLE1	Unknown	18976727	Orphanet	Wnt signaling pathway Asymmetric localization of PCP proteins
		SCARB2	Unknown	19847901	Orphanet	Lysosome Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3	263516 MONDO:0012721	KCTD7	Causal	17455289 22693283 22748208 38231304 30500434 32412666 35921411 30295347	ClinVar, Disgenet, Orphanet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 5	C5190799 402082	PRICKLE2	Causal	21276947 26942291	Disgenet, Orphanet	Wnt signaling pathway
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 5	C5190799 402082	POLG	Unknown	26942291	Disgenet, Orphanet	Base excision repair
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6	280620 C5190805 MONDO:0013526	GOSR2	Causal	21549339 23449775 29855340 31216804	ClinVar, Disgenet, Orphanet	SNARE interactions in vesicular transport COPII-mediated vesicle transport XBP1(S) activates chaperone genes +3 more
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6	280620 C5190805 MONDO:0013526	LRRC37A2	Unknown	—	Disgenet	—
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7	435438 C4015420 MONDO:0014521	KCNC1	Causal	25401298	ClinVar, Disgenet, Orphanet	Voltage gated Potassium channels
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 8	424027 MONDO:0014545 C5190825	CERS1	Causal	23074226 24782409 27618929 30800706 33798445	ClinVar, GWAS catalog, Orphanet, Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 8	424027 MONDO:0014545 C5190825	GDF1	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 9	457265 MONDO:0014685 C4225289	LMNB2	Causal	25954030 33783721 34466237 34489640	ClinVar, Orphanet, Disgenet	Apoptosis Cytoskeleton in muscle cells
PROGRESSIVE MYOCLONIC EPILEPSY WITH DYSTONIA	352596 C4706413 MONDO:0018126	TBC1D24	Unknown	21087195 23343562	Disgenet, Orphanet	TBC/RABGAPs
PROGRESSIVE MYOCLONUS EPILEPSY	MONDO:0020074	C9ORF72	Unknown	—	GenCC	—
		CERS1	Unknown	21625621 23074226 24782409 30800706 33798445	ClinGen, GenCC	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
		GOSR2	Unknown	21549339 23449775 29855340 30363482 30838261 33639315 34167170 37895210	ClinGen, GenCC	SNARE interactions in vesicular transport COPII-mediated vesicle transport XBP1(S) activates chaperone genes +3 more
		KCNC1	Unknown	25401298 28380698 29428275 29894724 32972906 33163565 33735526 34733949 35299674 36034301 9777733	ClinGen, HPO	Voltage gated Potassium channels
		KCTD7	Unknown	17455289 22693283 22748208 25060828 27742667 30295347 30825425 35972048	ClinGen, Disgenet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		NUS1	Unknown	29100083 31656175 32485575 32959737 33111323 33731878 33798445 34532305 35949226 37249665 37470039 38291835 38520610 39772664 39934081	ClinGen, GWAS catalog	Terpenoid backbone biosynthesis Synthesis of Dolichyl-phosphate Defective DHDDS causes retinitis pigmentosa 59
		PRICKLE1	Unknown	12874125 15634728 15642921 16376507 17868671 18976727 21276947 27648459 30345727 30564977 34597683 36582832 37593999	ClinGen, GWAS catalog	Wnt signaling pathway Asymmetric localization of PCP proteins
		SCARB2	Unknown	18022370 18308289 18424452 19847901 19933215 23659519	ClinGen, GWAS catalog	Lysosome Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
		SEMA6B	Unknown	32169168 34017830 34092044 35573939 35604360 36719163 36873942 39419291	ClinGen, Disgenet	Axon guidance
		SERPINI1	Unknown	10517635 11138927 11880376 12103288 15291813 18267959 18591508 18940798 19549782 21435071 25401298 28631894 29249370 32599536	ClinGen, ClinVar	—

Progressive myoclonic epilepsy

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