RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: progressive myoclonus epilepsy
Accession: DOID:891
browse the term
Definition: A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death. (DO)
Synonyms: exact_synonym: Biotin Responsive Encephalopathy; Biotin-Responsive Encephalopathies; Familial Progressive Myoclonic Epilepsy; May White syndrome; NOD; PME; atypical inclusion body disease; atypical inclusion-body diseases; progressive myoclonic epilepsies; progressive myoclonic epilepsy; progressive myoclonus epilepsies
narrow_synonym: neuronal ceroid-lipofuscinosis, dominant/recessive; neuronal ceroid-lipofuscinosis, recessive; progressive myoclonic epilepsy, X-linked
primary_id: MESH:D020191
alt_id: OMIM:310370
xref: GARD:7140 ; NCI:C7636 ; OMIM:PS254800
For additional species annotation, visit the
Alliance of Genome Resources .
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Adsl
adenylosuccinate lyase
ISO
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive
ClinVar
PMID:10090474 PMID:10888601 PMID:10958654 PMID:18524658 PMID:20127976 PMID:22180458 PMID:25741868 PMID:28492532
NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
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Afg3l2
AFG3 like matrix AAA peptidase subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
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Agpat3
1-acylglycerol-3-phosphate O-acyltransferase 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:28492532
NCBI chr20:11,060,584...11,144,806
Ensembl chr20:11,114,164...11,144,806
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Atn1
atrophin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10814707
NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755 Ensembl chr 9:157,267,901...157,274,755
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Cers1
ceramide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
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Chd2
chromodomain helicase DNA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
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Cln3
CLN3 lysosomal/endosomal transmembrane protein, battenin
ISO
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:25741868 PMID:26467025 PMID:27843123 PMID:28041643 PMID:28492532 PMID:28542676
NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
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Cln5
CLN5, intracellular trafficking protein
ISO
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
ClinVar
PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr15:93,634,815...93,644,146
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Cln6
CLN6, transmembrane ER protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
CTD ClinVar
PMID:25401298
NCBI chr 8:67,733,215...67,748,170
Ensembl chr 8:67,733,215...67,748,172
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Cstb
cystatin B
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
ClinVar
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:15483648 PMID:17003839 PMID:17920138 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:32581362
NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
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Dnajc5
DnaJ heat shock protein family (Hsp40) member C5
ISO
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
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Epm2a
EPM2A glucan phosphatase, laforin
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar Annotator: match by term: Progressive myoclonic epilepsy, X-linked CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 PMID:12019207 PMID:14706656 PMID:14722920 PMID:16021330 PMID:16134145 PMID:16311711 PMID:17010495 PMID:17389303 PMID:17509003 PMID:18029386 PMID:18311786 PMID:18414213 PMID:19403557 PMID:20738377 PMID:21623095 PMID:25246353 PMID:25401298 PMID:25544560 PMID:25741868 PMID:26467025 PMID:26493215 PMID:28492532 PMID:28800070 PMID:28934672 PMID:31493945 , PMID:9771710
RGD:9685621
NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
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Fbxl3
F-box and leucine-rich repeat protein 3
ISO
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
ClinVar
PMID:18414213 PMID:24767253 PMID:25741868 PMID:28492532
NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
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Gatd3a
glutamine amidotransferase like class 1 domain containing 3A
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:28492532
NCBI chr20:11,244,353...11,252,450
Ensembl chr20:11,244,353...11,252,449
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Gosr2
golgi SNAP receptor complex member 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28982678
NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081
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Hsf2bp
heat shock transcription factor 2 binding protein
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:28492532
NCBI chr20:10,757,172...10,844,177
Ensembl chr20:10,757,854...10,844,178
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Kcnc1
potassium voltage-gated channel subfamily C member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
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Kctd7
potassium channel tetramerization domain containing 7
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
NCBI chr12:30,024,080...30,033,357
Ensembl chr12:30,024,081...30,033,357
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Lmnb2
lamin B2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myoclonic epilepsy, progressive
CTD ClinVar
NCBI chr 7:11,657,870...11,676,936
Ensembl chr 7:11,660,934...11,675,472
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Mfsd8
major facilitator superfamily domain containing 8
ISO
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
ClinVar
NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
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Neu1
neuraminidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
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Nhlrc1
NHL repeat containing E3 ubiquitin protein ligase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572
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Optn
optineurin
ISO
protein:increased expression:neuron, nucleus
RGD
PMID:12379221 , PMID:22318854
RGD:724387 , RGD:6480499
NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
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Ppt1
palmitoyl-protein thioesterase 1
ISO
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
ClinVar
PMID:9425237 PMID:9664077 PMID:9733046 PMID:10649502 PMID:10679943 PMID:11440996 PMID:11506414 PMID:17261688 PMID:19793312 PMID:21228398 PMID:21990111 PMID:23539563 PMID:23772246 PMID:24082928 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
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Prdm8
PR/SET domain 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:13,052,776...13,073,583
Ensembl chr14:13,054,771...13,058,172
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Prickle2
prickle planar cell polarity protein 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar Annotator: match by term: Progressive myoclonic epilepsy, X-linked
ClinVar
PMID:21276947 PMID:23711981 PMID:25741868 PMID:26467025 PMID:26942291 PMID:26942292 PMID:28166811 PMID:28492532 PMID:29358611
NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176
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Prnp
prion protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
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Pwp2
PWP2, small subunit processome component
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:28492532
NCBI chr20:11,228,892...11,243,204
Ensembl chr20:11,228,844...11,243,205
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Rrp1
ribosomal RNA processing 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:28492532
NCBI chr20:10,982,016...10,993,260
Ensembl chr20:10,981,998...10,993,280
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Rrp1b
ribosomal RNA processing 1B
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:28492532
NCBI chr20:10,844,234...10,869,830
Ensembl chr20:10,844,266...10,869,821
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Sacs
sacsin molecular chaperone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
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Scarb2
scavenger receptor class B, member 2
ISO ISS
ClinVar Annotator: match by term: Progressive myoclonic epilepsy OMIM:254900 | OMIM:310370 | OMIM:611726 | OMIM:612437 | OMIM:614018
ClinVar MouseDO
PMID:9536098 PMID:17576681 PMID:18308289 PMID:19847901 PMID:21670406 PMID:23515316 PMID:23659519 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28222800 PMID:28492532 PMID:29261713 PMID:29358611
NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963
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Serpini1
serpin family I member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
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Sik1
salt-inducible kinase 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:28492532
NCBI chr20:10,670,747...10,680,279
Ensembl chr20:10,668,411...10,680,283
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Slc7a6os
solute carrier family 7, member 6 opposite strand
ISO
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive
ClinVar
PMID:25741868 PMID:33085104
NCBI chr19:38,180,859...38,189,523
Ensembl chr19:38,180,861...38,189,523
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St3gal3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ISO
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
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Tbc1d24
TBC1 domain family, member 24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25401298
NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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Tpp1
tripeptidyl peptidase 1
ISO
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
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Trappc10
trafficking protein particle complex subunit 10
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar
PMID:28492532
NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
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Tsc1
TSC complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17484760
NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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Atn1
atrophin 1
ISO
OMIM
NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755 Ensembl chr 9:157,267,901...157,274,755
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Epm2a
EPM2A glucan phosphatase, laforin
ISO
ClinVar Annotator: match by term: Lafora disease ClinVar Annotator: match by OMIM:254780
OMIM ClinVar
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 PMID:11739371 PMID:12019207 PMID:14706656 PMID:14722920 PMID:16021330 PMID:16134145 PMID:17010495 PMID:17389303 PMID:21623095 PMID:25246353 PMID:25544560 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
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Nhlrc1
NHL repeat containing E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Lafora disease ClinVar Annotator: match by OMIM:254780
OMIM ClinVar
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 PMID:16134145 PMID:16190947 PMID:16311711 PMID:16529633 PMID:16950819 PMID:17952067 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:18414213 PMID:19322595 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22047982 PMID:22815132 PMID:23806086 PMID:25270369 PMID:25667860 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28556688 PMID:29431110 PMID:29588937 PMID:29899791 PMID:30701169 PMID:31227012 PMID:31758957 PMID:31858178
NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Mt-nd5
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
ISO
ClinVar Annotator: match by term: Myoclonus with epilepsy with ragged red fibers
ClinVar
PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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Nhlrc1
NHL repeat containing E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 2b
ClinVar
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16134145 PMID:16311711 PMID:16529633 PMID:16950819 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22815132 PMID:25270369 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28556688 PMID:29431110 PMID:31227012 PMID:31758957 PMID:31858178
NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572
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Prdm8
PR/SET domain 8
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10
OMIM ClinVar
PMID:22961547 PMID:25741868 PMID:28492532
NCBI chr14:13,052,776...13,073,583
Ensembl chr14:13,054,771...13,058,172
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Sema6b
semaphorin 6B
ISO
ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 11
OMIM ClinVar
PMID:32169168
NCBI chr 9:10,934,273...10,951,252
Ensembl chr 9:10,941,613...10,951,252
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Slc7a6os
solute carrier family 7, member 6 opposite strand
ISO
ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 12
OMIM ClinVar
PMID:25741868 PMID:33085104
NCBI chr19:38,180,859...38,189,523
Ensembl chr19:38,180,861...38,189,523
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Cstb
cystatin B
ISO
OMIM
NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
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Prickle1
prickle planar cell polarity protein 1
ISO
ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia ClinVar Annotator: match by OMIM:612437
ClinVar OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 PMID:21276947 PMID:21901791 PMID:24689077 PMID:25741868 PMID:26378787 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29790814 PMID:30564977 PMID:31035234 PMID:32214227
NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
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Tbc1d24
TBC1 domain family, member 24
ISO
ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia
ClinVar
PMID:25741868
NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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Cln3
CLN3 lysosomal/endosomal transmembrane protein, battenin
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
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Kctd7
potassium channel tetramerization domain containing 7
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 3 ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions ClinVar Annotator: match by OMIM:611726
OMIM ClinVar
PMID:2274208 PMID:9536098 PMID:17455289 PMID:17576681 PMID:18414213 PMID:22606975 PMID:22693283 PMID:22748208 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26795593 PMID:27742667 PMID:28492532 PMID:29056246 PMID:29655203 PMID:30295347 PMID:30500434 PMID:31216804 PMID:32581362
NCBI chr12:30,024,080...30,033,357
Ensembl chr12:30,024,081...30,033,357
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Scarb2
scavenger receptor class B, member 2
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure ClinVar Annotator: match by OMIM:254900 ClinVar Annotator: match by null
OMIM ClinVar
PMID:9536098 PMID:15364701 PMID:17576681 PMID:18308289 PMID:18424452 PMID:19454373 PMID:19597094 PMID:19847901 PMID:21670406 PMID:21796727 PMID:22032306 PMID:22767442 PMID:23225201 PMID:23515316 PMID:23659519 PMID:24339182 PMID:24485911 PMID:24620919 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28492532 PMID:29261713 PMID:29358611
NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963
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Gosr2
golgi SNAP receptor complex member 2
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 6
OMIM ClinVar
PMID:16199547 PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28982678
NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081
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Csrp3
cysteine and glycine rich protein 3
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
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Gtf2h1
general transcription factor IIH subunit 1
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:102,849,618...102,877,939
Ensembl chr 1:102,849,889...102,877,944
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Hps5
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430
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Igsf22
immunoglobulin superfamily member 22
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:103,178,310...103,195,425
G
Kcnc1
potassium voltage-gated channel subfamily C member 1
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25401298 PMID:25741868 PMID:26467025 PMID:27629860 PMID:28145425 PMID:28166811 PMID:28380698 PMID:28492532 PMID:31353855 PMID:31353862
NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
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Ldha
lactate dehydrogenase A
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:102,900,288...102,909,713
Ensembl chr 1:102,900,286...102,909,707
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Ldhc
lactate dehydrogenase C
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:102,914,875...102,931,843
Ensembl chr 1:102,915,191...102,931,839
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Mrgprx1
MAS related GPR family member X1
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:104,023,700...104,049,356
Ensembl chr 1:104,023,738...104,024,682
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Mrgprx2
MAS related GPR family member X2
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:103,743,746...103,760,945
Ensembl chr 1:103,741,503...103,760,913
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Mrgprx3
MAS related GPR family member X3
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:103,298,172...103,323,476
Ensembl chr 1:103,298,174...103,323,476
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Mrgprx4
MAS related GPR family member X4
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:103,378,242...103,388,240
Ensembl chr 1:103,379,325...103,380,338
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Myod1
myogenic differentiation 1
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
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Otog
otogelin
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:102,258,124...102,327,201
Ensembl chr 1:102,258,124...102,327,201
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Ptpn5
protein tyrosine phosphatase, non-receptor type 5
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:103,197,918...103,258,309
Ensembl chr 1:103,197,915...103,256,823
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Saa4
serum amyloid A4
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:102,776,079...102,780,381
Ensembl chr 1:102,776,082...102,849,430
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Saal1
serum amyloid A-like 1
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:102,738,691...102,743,571
G
Sergef
secretion regulating guanine nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:102,461,327...102,664,978
Ensembl chr 1:102,461,329...102,664,951
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Spty2d1
SPT2 chromatin protein domain containing 1
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:103,115,280...103,129,438
Ensembl chr 1:103,115,216...103,128,743
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Tmem86a
transmembrane protein 86A
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:103,173,032...103,177,382
Ensembl chr 1:103,172,987...103,177,417
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Tph1
tryptophan hydroxylase 1
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:102,669,868...102,699,442
Ensembl chr 1:102,669,868...102,699,442
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Tsg101
tumor susceptibility 101
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:102,941,151...102,971,017
Ensembl chr 1:102,941,231...102,970,950
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Uevld
UEV and lactate/malate dehyrogenase domains
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:102,982,833...103,014,472
Ensembl chr 1:102,982,123...103,014,388
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Ush1c
USH1 protein network component harmonin
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
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Zdhhc13
zinc finger DHHC-type palmitoyltransferase 13
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7
ClinVar
PMID:28492532
NCBI chr 1:104,106,211...104,145,045
Ensembl chr 1:104,106,245...104,145,044
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Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by OMIM:616230 ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 8
ClinVar OMIM
PMID:14648004 PMID:17924340 PMID:19243074 PMID:20413652 PMID:24782409 PMID:25741868 PMID:28492532 PMID:28991257 PMID:30800706
NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
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Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 8
ClinVar
PMID:14648004 PMID:17924340 PMID:19243074 PMID:20413652 PMID:24782409 PMID:25741868 PMID:28492532 PMID:28991257 PMID:30800706
NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
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Lmnb2
lamin B2
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 9
ClinVar OMIM
PMID:9536098 PMID:16826530 PMID:17576681 PMID:22995991 PMID:25741868 PMID:25954030 PMID:26467025 PMID:27535533 PMID:28492532
NCBI chr 7:11,657,870...11,676,936
Ensembl chr 7:11,660,934...11,675,472
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Asah1
N-acylsphingosine amidohydrolase 1
ISO
ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy ClinVar Annotator: match by term: Jankovic Rivera syndrome ClinVar Annotator: match by OMIM:159950
OMIM ClinVar
PMID:22703880 PMID:24164096 PMID:24355074 PMID:25326635 PMID:25578555 PMID:25741868 PMID:25847462 PMID:26526000 PMID:28492532 PMID:29169047 PMID:29358611
NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
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Cstb
cystatin B
ISO
ClinVar Annotator: match by OMIM:254800 ClinVar Annotator: match by term: Unverricht-Lundborg syndrome CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:7543407 PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:11814737 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22154554 PMID:22936898 PMID:23205931 PMID:25288807 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:32581362
NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
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