Progressive myoclonic epilepsy

Disease Term Disease ID Gene Symbol Classification References Source
EPILEPSY, PARTIAL, WITH VARIABLE FOCI
C1858477MESH:C565785
DEPDC5 Unknown
23542697 23542701
CTD Disgenet
NPRL2 Unknown — CTD Disgenet
NPRL3 Unknown — CTD Disgenet
EPILEPSY, PROGRESSIVE MYOCLONIC 2B
C1850764
NHLRC1 Unknown — Disgenet
EPILEPSY, PROGRESSIVE MYOCLONIC 3
C2673257
CLN3 Unknown — Disgenet
KCTD7 Unknown — Disgenet
EPILEPSY, PROGRESSIVE MYOCLONIC 7
616187
KCNC1 Unknown — HPO
EPILEPSY, PROGRESSIVE MYOCLONIC, 12
C5543069619191MONDO:0030936
PRMT7 Unknown — Disgenet
SLC7A6OS Unknown
33085104
ClinVar Disgenet GWAS catalog HPO
EPILEPSY, PROGRESSIVE MYOCLONIC, 1B
612437MONDO:0012904
PRICKLE1 Causal
18976727
ClinVar HPO Orphanet
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS
611726OMIM:611726
KCTD7 Unknown — CTD HPO
EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE
254900OMIM:254900
SCARB2 Unknown — CTD HPO
EPILEPSY, PROGRESSIVE MYOCLONIC, 6
614018
GOSR2 Unknown — HPO
EPILEPSY, PROGRESSIVE MYOCLONIC, 8
616230
CERS1 Unknown — HPO
EPILEPSY, PROGRESSIVE MYOCLONIC, 9
616540
LMNB2 Unknown — HPO
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 1
308
CSTB Unknown
20301321 9012407
Orphanet
PRICKLE1 Unknown
18976727
Orphanet
SCARB2 Unknown
19847901
Orphanet
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3
263516MONDO:0012721
KCTD7 Causal
17455289 22693283 22748208 38231304 30500434 32412666 35921411 30295347
ClinVar Disgenet Orphanet
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 5
402082C5190799
PRICKLE2 Causal
21276947 26942291
Orphanet
POLG Unknown
26942291
Orphanet
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6
280620C5190805MONDO:0013526
GOSR2 Causal
21549339 23449775 29855340 31216804
ClinVar Disgenet Orphanet
LRRC37A2 Unknown — Disgenet
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7
435438C4015420MONDO:0014521
KCNC1 Causal
25401298
ClinVar Disgenet Orphanet
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 8
424027MONDO:0014545C5190825
CERS1 Causal
23074226 24782409 27618929 30800706 33798445
ClinVar GWAS catalog Orphanet
GDF1 Unknown — Disgenet
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 9
457265MONDO:0014685C4225289
LMNB2 Causal
25954030 33783721 34466237 34489640
ClinVar Orphanet
PROGRESSIVE MYOCLONIC EPILEPSY WITH DYSTONIA
352596C4706413MONDO:0018126
TBC1D24 Unknown
21087195 23343562
Disgenet Orphanet
PROGRESSIVE MYOCLONUS EPILEPSY
MONDO:0020074
C9ORF72 Unknown — GenCC
CERS1 Unknown
21625621 23074226 24782409 30800706 33798445
ClinGen GenCC
GOSR2 Unknown
21549339 23449775 29855340 30363482 30838261 33639315 34167170 37895210
ClinGen GenCC
KCNC1 Unknown
25401298 28380698 29428275 29894724 32972906 33163565 33735526 34733949 35299674 36034301 9777733
ClinGen HPO
KCTD7 Unknown
17455289 22693283 22748208 25060828 27742667 30295347 30825425 35972048
ClinGen Disgenet
NUS1 Unknown
29100083 31656175 32485575 32959737 33111323 33731878 33798445 34532305 35949226 37249665 37470039 38291835 38520610 39772664 39934081
ClinGen GWAS catalog
PRICKLE1 Unknown
12874125 15634728 15642921 16376507 17868671 18976727 21276947 27648459 30345727 30564977 34597683 36582832 37593999
ClinGen GWAS catalog
SCARB2 Unknown
18022370 18308289 18424452 19847901 19933215 23659519
ClinGen GWAS catalog
SEMA6B Unknown
32169168 34017830 34092044 35573939 35604360 36719163 36873942 39419291
ClinGen Disgenet
SERPINI1 Unknown
10517635 11138927 11880376 12103288 15291813 18267959 18591508 18940798 19549782 21435071 25401298 28631894 29249370 32599536
ClinGen ClinVar