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G |
Atf2 |
activating transcription factor 2 |
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ISO |
Neonatal encephalopathy with seizures |
OMIA |
PMID:18074159 PMID:33244473 |
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NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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G |
Tnk2 |
tyrosine kinase, non-receptor, 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy |
ClinVar |
PMID:23686771 PMID:25741868 PMID:26595808 PMID:28492532 |
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NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
|
ISO |
ClinVar Annotator: match by term: Familial neonatal seizures |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Familial neonatal seizures |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Benign familial neonatal seizures |
ClinVar |
PMID:18625963 PMID:19464834 PMID:28492532 |
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
|
ISO |
ClinVar Annotator: match by term: Benign familial neonatal seizures | ClinVar Annotator: match by term: Benign neonatal familial convulsions |
ClinVar |
PMID:18249525 PMID:18625963 PMID:19344764 PMID:19464834 PMID:21703448 PMID:22612257 PMID:23020937 PMID:23146207 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25052858 PMID:25740509 PMID:25741868 PMID:25741905 PMID:26350515 PMID:26467025 PMID:26582918 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29655203 PMID:30348901 PMID:30578330 PMID:31177578 PMID:31238879 PMID:33004838 PMID:34356170 More...
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NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Familial neonatal seizures |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures | ClinVar Annotator: match by term: Benign infantile familial convulsions ClinVar Annotator: match by term: Familial neonatal seizures |
ClinVar |
PMID:6660252 PMID:15048894 PMID:15133511 PMID:16865694 PMID:17021166 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479388 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20371507 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:23935176 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26068938 PMID:26132555 PMID:26993267 PMID:27491411 PMID:27779742 PMID:27781031 PMID:28379373 PMID:28492532 PMID:28709814 PMID:29068549 PMID:29100083 PMID:29215089 PMID:29358611 PMID:29655203 PMID:30381472 PMID:30619928 PMID:31054490 PMID:31302675 PMID:31904120 PMID:32400968 PMID:34782754 PMID:35431799 PMID:37578743 More...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Familial neonatal seizures |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Familial neonatal seizures |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
ClinVar Annotator: match by term: Familial neonatal seizures |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 |
ClinVar |
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NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: KCNQ2-related condition | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 PMID:9425895 PMID:9430594 PMID:9536098 PMID:9872318 PMID:10323247 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14669214 PMID:14985406 PMID:15030501 PMID:15178210 PMID:15249611 PMID:15596769 PMID:16039833 PMID:16199547 PMID:16260777 PMID:16319223 PMID:16686649 PMID:16691402 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17475800 PMID:17576681 PMID:17675531 PMID:17872363 PMID:17993630 PMID:18006581 PMID:18246739 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:19818940 PMID:20119593 PMID:20437616 PMID:21913284 PMID:21937445 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23290024 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23849776 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24375629 PMID:24586341 PMID:24759409 PMID:25046240 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25740509 PMID:25741868 PMID:25741905 PMID:25818041 PMID:25880994 PMID:25959266 PMID:25960349 PMID:25982755 PMID:26007637 PMID:26073431 PMID:26138355 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26993267 PMID:27334371 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27861786 PMID:27864847 PMID:27888506 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28492532 PMID:28602030 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29383681 PMID:29390993 PMID:29429461 PMID:29455050 PMID:29655203 PMID:29726930 PMID:29852413 PMID:29933521 PMID:30109124 PMID:30126342 PMID:30185235 PMID:30440138 PMID:30478917 PMID:31019026 PMID:31152295 PMID:31164858 PMID:31199083 PMID:31418850 PMID:31440733 PMID:31512412 PMID:31780880 PMID:32139178 PMID:32184343 PMID:32362866 PMID:32860008 PMID:32917465 PMID:33659638 PMID:33754465 PMID:34020651 PMID:34055682 PMID:34120799 PMID:34354098 PMID:34395220 PMID:34711204 PMID:35104249 PMID:35468861 PMID:35557555 PMID:36849527 More...
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 |
ClinVar |
PMID:12742592 PMID:15249611 PMID:17129708 PMID:18625963 PMID:19464834 PMID:28492532 PMID:29314763 PMID:31199083 More...
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISO |
DNA:missense mutation:cds:p.G263V (human) DNA:missense mutation:cds:p.W309R (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 |
OMIM CTD ClinVar RGD |
PMID:1859177 PMID:9425900 PMID:9536098 PMID:10852552 PMID:14534157 PMID:16235065 PMID:16883520 PMID:17576681 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18425618 PMID:18625963 PMID:19167866 PMID:19344764 PMID:19464834 PMID:20437616 PMID:21687499 PMID:21703448 PMID:22612257 PMID:23020937 PMID:23146207 PMID:23360469 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25052858 PMID:25278462 PMID:25524373 PMID:25740509 PMID:25741868 PMID:25741905 PMID:26350515 PMID:26467025 PMID:26582918 PMID:27888506 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29655203 PMID:30348901 PMID:30578330 PMID:30782577 PMID:31177578 PMID:31238879 PMID:31785789 PMID:32086284 PMID:33004838 PMID:34356170 PMID:9425900 PMID:10852552 More...
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RGD:9686418, RGD:9686433 |
NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia |
ClinVar |
PMID:24375629 PMID:25741868 |
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1 |
ClinVar |
PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 PMID:9872318 PMID:10482260 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14985406 PMID:15030501 PMID:16039833 PMID:16199547 PMID:16260777 PMID:16319223 PMID:16686649 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17475800 PMID:17576681 PMID:17872363 PMID:17993630 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:20119593 PMID:20437616 PMID:21937445 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23849776 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24375629 PMID:24586341 PMID:24759409 PMID:25046240 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25740509 PMID:25741868 PMID:25741905 PMID:25818041 PMID:25880994 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26073431 PMID:26138355 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26993267 PMID:27334371 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27861786 PMID:27864847 PMID:27888506 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28492532 PMID:28602030 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29383681 PMID:29390993 PMID:29429461 PMID:29455050 PMID:29655203 PMID:29726930 PMID:29852413 PMID:29933521 PMID:30126342 PMID:30185235 PMID:30440138 PMID:30478917 PMID:31019026 PMID:31152295 PMID:31164858 PMID:31199083 PMID:31418850 PMID:31440733 PMID:31512412 PMID:31780880 PMID:32139178 PMID:32184343 PMID:32362866 PMID:32860008 PMID:32917465 PMID:33659638 PMID:33754465 PMID:34020651 PMID:34055682 PMID:34120799 PMID:34354098 PMID:34395220 PMID:34711204 PMID:35104249 PMID:35468861 PMID:35557555 PMID:36849527 More...
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
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ISO |
ClinVar Annotator: match by term: neonatal seizures |
ClinVar |
PMID:16199547 PMID:16491085 PMID:20554659 PMID:21733724 PMID:25741868 PMID:28492532 More...
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NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
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G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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ISO |
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RGD |
PMID:12953268 |
RGD:1358436 |
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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G |
Ccn4 |
cellular communication network factor 4 |
|
ISO |
ClinVar Annotator: match by term: Benign neonatal seizures |
ClinVar |
PMID:28492532 PMID:29383681 PMID:29852413 |
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NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248
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G |
Diaph1 |
diaphanous-related formin 1 |
|
ISO |
ClinVar Annotator: match by term: Neonatal seizure |
ClinVar |
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NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172
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G |
Dnaaf11 |
dynein axonemal assembly factor 11 |
|
ISO |
ClinVar Annotator: match by term: Benign neonatal seizures |
ClinVar |
PMID:28492532 PMID:29383681 PMID:29852413 |
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NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:121200 | OMIM:121201 | OMIM:269720 ClinVar Annotator: match by term: Benign neonatal seizures |
CTD MouseDO ClinVar |
PMID:18625963 PMID:19380078 PMID:19464834 PMID:26910900 PMID:28492532 |
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
|
ISS ISO |
OMIM:121200 | OMIM:121201 | OMIM:269720 ClinVar Annotator: match by term: Benign Neonatal Epilepsy | ClinVar Annotator: match by term: Benign neonatal seizures |
MouseDO ClinVar |
PMID:9425900 PMID:9536098 PMID:14534157 PMID:16199547 PMID:16235065 PMID:16883520 PMID:17576681 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18625963 PMID:19344764 PMID:19464834 PMID:20437616 PMID:21687499 PMID:21703448 PMID:22612257 PMID:23020937 PMID:23146207 PMID:23360469 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25052858 PMID:25278462 PMID:25524373 PMID:25640679 PMID:25740509 PMID:25741868 PMID:25741905 PMID:26350515 PMID:26467025 PMID:26582918 PMID:27888506 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29383681 PMID:29655203 PMID:29778030 PMID:29808309 PMID:29852413 PMID:30348901 PMID:30578330 PMID:30782577 PMID:31177578 PMID:31238879 PMID:31440727 PMID:31785789 PMID:31981491 PMID:32086284 PMID:32613771 PMID:33004838 PMID:33149276 PMID:34356170 More...
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NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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G |
Ndrg1 |
N-myc downstream regulated 1 |
|
ISO |
ClinVar Annotator: match by term: Benign neonatal seizures |
ClinVar |
PMID:28492532 PMID:29383681 PMID:29852413 |
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NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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G |
Phf20l1 |
PHD finger protein 20-like 1 |
|
ISO |
ClinVar Annotator: match by term: Benign neonatal seizures |
ClinVar |
PMID:28492532 PMID:29383681 PMID:29852413 |
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NCBI chr 7:98,330,580...98,396,526
Ensembl chr 7:98,330,580...98,396,526
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: neonatal seizures |
ClinVar |
PMID:14635118 PMID:16919951 PMID:20185557 PMID:21357833 PMID:21550804 PMID:21880868 PMID:25741868 PMID:28471437 PMID:28492532 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Benign Neonatal Epilepsy |
ClinVar |
PMID:20371507 PMID:25741868 PMID:27779742 PMID:28379373 PMID:28492532 PMID:29100083 PMID:30619928 PMID:31904120 PMID:35431799 More...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Sla |
src-like adaptor |
|
ISO |
ClinVar Annotator: match by term: Benign neonatal seizures |
ClinVar |
PMID:28492532 PMID:29383681 PMID:29852413 |
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NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
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G |
Tg |
thyroglobulin |
|
ISO |
ClinVar Annotator: match by term: Benign neonatal seizures |
ClinVar |
PMID:28492532 PMID:29383681 PMID:29852413 |
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NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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G |
Tmem71 |
transmembrane protein 71 |
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ISO |
ClinVar Annotator: match by term: Benign neonatal seizures |
ClinVar |
PMID:28492532 PMID:29383681 PMID:29852413 |
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NCBI chr 7:98,276,975...98,323,161
Ensembl chr 7:98,276,975...98,315,858
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G |
Akap4 |
A-kinase anchoring protein 4 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,435,391...15,445,684
Ensembl chr X:15,435,410...15,445,684
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G |
Araf |
A-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073
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G |
Bmp15 |
bone morphogenetic protein 15 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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G |
Ccdc120 |
coiled-coil domain containing 120 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
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G |
Ccdc22 |
coiled-coil domain containing 22 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
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G |
Ccnb3 |
cyclin B3 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885
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G |
Cdk16 |
cyclin-dependent kinase 16 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:1,492,814...1,504,309
Ensembl chr X:1,492,814...1,504,148
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G |
Cfp |
complement factor properdin |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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G |
Dgkk |
diacylglycerol kinase kappa |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,581,991...15,713,814
Ensembl chr X:15,583,572...15,712,987
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G |
Ebp |
EBP, cholestenol delta-isomerase |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
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G |
Elk1 |
ETS transcription factor ELK1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713
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G |
Eras |
ES cell expressed Ras |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,573,987...14,578,455
Ensembl chr X:14,573,987...14,578,374
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G |
Foxp3 |
forkhead box P3 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Ftsj1 |
FtsJ RNA 2'-O-methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,243,684...14,256,555
Ensembl chr X:14,244,050...14,252,030
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G |
Gata1 |
GATA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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G |
Glod5 |
glyoxalase domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
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|
G |
Gpkow |
G patch domain and KOW motifs |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384
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|
G |
Gripap1 |
GRIP1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,678,896...14,708,747
Ensembl chr X:14,678,898...14,708,679
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|
G |
Hdac6 |
histone deacetylase 6 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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|
G |
Kcnd1 |
potassium voltage-gated channel subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233
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G |
Magix |
MAGI family member, X-linked |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,824,114...14,832,466
Ensembl chr X:14,824,188...14,831,045
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G |
Mir500 |
microRNA 500 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
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G |
Mir532 |
microRNA 532 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
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|
G |
Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062
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|
G |
Otud5 |
OTU deubiquitinase 5 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
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|
G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
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|
G |
Pim2 |
Pim-2 proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
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|
G |
Plp2 |
proteolipid protein 2 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514
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|
G |
Porcn |
porcupine O-acyltransferase |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481
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G |
Ppp1r3f |
protein phosphatase 1, regulatory subunit 3F |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193
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G |
Pqbp1 |
polyglutamine binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
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G |
Praf2 |
PRA1 domain family, member 2 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
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G |
Prickle3 |
prickle planar cell polarity protein 3 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
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G |
Rbm10 |
RNA binding motif protein 10 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
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G |
Rbm3 |
RNA binding motif protein 3 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580
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G |
Shroom4 |
shroom family member 4 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:15,869,065...16,076,850
Ensembl chr X:15,869,065...16,076,869
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G |
Slc35a2 |
solute carrier family 35 member A2 |
|
ISO |
ClinVar Annotator: match by term: CDG IIm | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:25877686 PMID:26350515 PMID:26467025 PMID:28492532 PMID:28771251 PMID:29907092 PMID:30194038 PMID:30653653 PMID:30746764 PMID:30817854 PMID:34161696 PMID:38177409 More...
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NCBI chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678
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G |
Slc38a5 |
solute carrier family 38, member 5 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,213,727...14,222,498
Ensembl chr X:14,213,729...14,222,498
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G |
Spaca5 |
sperm acrosome associated 5 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:918,817...922,000
Ensembl chr X:918,817...922,049
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G |
Ssx1 |
SSX family member 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720
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G |
Suv39h1 |
SUV39H1 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982
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G |
Suv39h1-ps1 |
SUV39H1 histone lysine methyltransferase, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:141,792,589...141,795,257
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G |
Syn1 |
synapsin I |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:1,172,208...1,227,400
Ensembl chr X:1,172,208...1,227,396
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G |
Syp |
synaptophysin |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
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G |
Tbc1d25 |
TBC1 domain family, member 25 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275
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G |
Tfe3 |
transcription factor binding to IGHM enhancer 3 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
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G |
Timm17b |
translocase of inner mitochondrial membrane 17b |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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G |
Uba1 |
ubiquitin-like modifier activating enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636
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G |
Usp11 |
ubiquitin specific peptidase 11 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:1,473,349...1,489,520
Ensembl chr X:1,473,350...1,489,520
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G |
Usp27x |
ubiquitin specific peptidase 27, X-linked |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912
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G |
Uxt |
ubiquitously-expressed, prefoldin-like chaperone |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:1,126,110...1,138,670
Ensembl chr X:1,126,162...1,138,663
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G |
Was |
WASP actin nucleation promoting factor |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
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G |
Wdr13 |
WD repeat domain 13 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,362,484...14,373,727
Ensembl chr X:14,362,860...14,373,727
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G |
Wdr45 |
WD repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
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G |
Zfp157 |
zinc finger protein 157 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698
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G |
Zfp182 |
zinc finger protein 182 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:927,439...1,001,474
Ensembl chr X:899,439...1,000,954
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G |
Znf81 |
zinc finger protein 81 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:1,030,103...1,126,078
Ensembl chr X:1,036,153...1,126,102
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G |
Abca3 |
ATP binding cassette subfamily A member 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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G |
Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:23953072 PMID:25741868 PMID:28492532 |
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NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
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G |
Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:107,906,320...107,968,232
Ensembl chr X:107,885,093...107,942,695
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G |
Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:35638461 |
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NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513
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G |
Arx |
aristaless related homeobox |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome CTD Direct Evidence: marker/mechanism associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human) |
OMIM ClinVar CTD RGD |
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12177367 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12379852 PMID:12640086 PMID:12874418 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15726411 PMID:15850492 PMID:16078051 PMID:16199547 PMID:16235064 PMID:16523516 PMID:16995578 PMID:17331656 PMID:17480217 PMID:17490853 PMID:17576681 PMID:17641262 PMID:17664401 PMID:17668384 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19507262 PMID:19606478 PMID:19738637 PMID:20148114 PMID:20300201 PMID:20506206 PMID:21108397 PMID:21204215 PMID:21204226 PMID:21496008 PMID:22252899 PMID:22922607 PMID:23039062 PMID:23246292 PMID:23757202 PMID:24643514 PMID:24781210 PMID:25741868 PMID:26029707 PMID:26337422 PMID:26467025 PMID:28174645 PMID:28387369 PMID:28492532 PMID:29152528 PMID:29778428 PMID:30108342 PMID:30255221 PMID:31145546 PMID:31324350 PMID:31623504 PMID:31691806 PMID:31791873 PMID:32139178 PMID:32313153 PMID:32383243 PMID:32613771 PMID:33951346 PMID:35121198 PMID:17664401 PMID:19587282 More...
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RGD:11565846, RGD:11565838 |
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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G |
Bricd5 |
BRICHOS domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32820246 PMID:33497533 |
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NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
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G |
Caskin1 |
CASK interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
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G |
Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 More...
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NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Cfap96 |
cilia and flagella associated protein 96 |
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ISO |
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 |
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NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
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G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
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G |
Csnk1e |
casein kinase 1, epsilon |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
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NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794
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G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
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G |
Dnm1 |
dynamin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:30097719 PMID:32909139 PMID:36413998 |
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NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
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G |
E4f1 |
E4F transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974
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G |
Eci1 |
enoyl-CoA delta isomerase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061
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G |
Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
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G |
Gnao1 |
G protein subunit alpha o1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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ISO |
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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G |
Hcn1 |
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24747641 |
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NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774
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G |
Hnrnpu |
heterogeneous nuclear ribonucleoprotein U |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
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NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588
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G |
Itpa |
inosine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:26224535 PMID:28492532 |
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NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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G |
Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 More...
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NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Maf |
MAF bZIP transcription factor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24369382 PMID:24456803 PMID:25411445 PMID:25741868 PMID:26467025 PMID:27854218 PMID:27959697 PMID:28492532 PMID:29358611 PMID:29390993 PMID:30356099 PMID:31130284 PMID:31780880 PMID:31957018 More...
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NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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G |
Mlst8 |
MTOR associated protein, LST8 homolog |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
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G |
Napb |
NSF attachment protein beta |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:33189936 |
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NCBI chr 3:136,132,248...136,179,280
Ensembl chr 3:136,133,428...136,179,345
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G |
Nrxn2 |
neurexin 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
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NCBI chr 1:203,726,420...203,842,301
Ensembl chr 1:203,735,753...203,842,297
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G |
Ntn3 |
netrin 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001
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G |
Pacs2 |
phosphofurin acidic cluster sorting protein 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:25741916 PMID:26626314 PMID:28135719 PMID:28191890 PMID:28492532 PMID:28628100 PMID:28867141 PMID:29656858 PMID:30290155 PMID:30904718 PMID:31036916 PMID:31231135 PMID:32416568 PMID:33243487 PMID:34782754 More...
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NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583
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G |
Pcdh19 |
protocadherin 19 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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G |
Pcyt1b |
phosphate cytidylyltransferase 1B, choline |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
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NCBI chr X:58,378,090...58,471,623
Ensembl chr X:58,378,116...58,468,935
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G |
Pdk3 |
pyruvate dehydrogenase kinase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
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NCBI chr X:58,486,699...58,553,533
Ensembl chr X:58,486,554...58,553,557
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G |
Pgp |
phosphoglycolate phosphatase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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G |
Plcb1 |
phospholipase C beta 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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G |
Pola1 |
DNA polymerase alpha 1, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
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NCBI chr X:58,034,617...58,348,612
Ensembl chr X:58,034,619...58,348,536
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G |
Rab26 |
RAB26, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030
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G |
Reps2 |
RALBP1 associated Eps domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr X:32,049,455...32,322,317
Ensembl chr X:32,049,399...32,317,414
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G |
Rnps1 |
RNA binding protein with serine rich domain 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:11940708 PMID:12083760 PMID:16458823 PMID:17347258 PMID:18804930 PMID:18930999 PMID:20522430 PMID:21248271 PMID:22151702 PMID:23195492 PMID:23808377 PMID:25741868 PMID:26096185 PMID:26467025 PMID:26544041 PMID:28079314 PMID:28387369 PMID:28492532 PMID:29100083 PMID:30619928 PMID:31864146 PMID:32056211 PMID:32090326 PMID:35571373 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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G |
Slc25a12 |
solute carrier family 25 member 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100
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G |
St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
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G |
Synj1 |
synaptojanin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220
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G |
Szt2 |
SZT2 subunit of KICSTOR complex |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms |
ClinVar |
PMID:3402014 PMID:9536098 PMID:10574461 PMID:10741954 PMID:16199547 PMID:16855591 PMID:17576681 PMID:18414213 PMID:20727515 PMID:20797691 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24729539 PMID:24729547 PMID:24848745 PMID:25169651 PMID:25326637 PMID:25401298 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:27669036 PMID:27784474 PMID:28072960 PMID:28252636 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:28726039 PMID:29100083 PMID:29176366 PMID:29358611 PMID:29429257 PMID:29655203 PMID:29671961 PMID:29933521 PMID:30108545 PMID:30139988 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30680869 PMID:30776697 PMID:30866059 PMID:31112829 PMID:31216405 PMID:31257402 PMID:31618474 PMID:31780880 PMID:31922275 PMID:32004315 PMID:32369273 PMID:32581362 PMID:32860223 PMID:33063868 PMID:33229591 PMID:33281559 PMID:33333793 PMID:33619735 PMID:33726816 PMID:33986365 PMID:34020146 PMID:34852372 More...
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NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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G |
Tedc2 |
tubulin epsilon and delta complex 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,246,032...13,251,196
Ensembl chr10:13,246,037...13,251,124
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G |
Traf7 |
TNF receptor associated factor 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
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G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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G |
Ufsp2 |
UFM1-specific peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 |
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NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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Wwox |
WW domain-containing oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms |
ClinVar |
PMID:9536098 PMID:11572989 PMID:11956080 PMID:16199547 PMID:17576681 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24369382 PMID:24456803 PMID:25403906 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25640679 PMID:25741868 PMID:25741916 PMID:26077850 PMID:26467025 PMID:27495153 PMID:27569545 PMID:27717089 PMID:27848944 PMID:27854218 PMID:27884173 PMID:27959697 PMID:28130116 PMID:28492532 PMID:29358611 PMID:29390993 PMID:29675105 PMID:29808465 PMID:29852413 PMID:29905011 PMID:30356099 PMID:30746283 PMID:30853297 PMID:30919572 PMID:31130284 PMID:31216405 PMID:31618474 PMID:31623504 PMID:31780880 PMID:31957018 PMID:35573960 PMID:35701389 More...
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NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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Csrnp3 |
cysteine and serine rich nuclear protein 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11326335 PMID:11738931 PMID:12037327 PMID:15028761 PMID:15048894 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17021166 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18479388 PMID:18930999 PMID:19304393 PMID:19400878 PMID:19786696 PMID:20358599 PMID:20371507 PMID:20522430 PMID:20956790 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21439835 PMID:21692795 PMID:21719429 PMID:22029951 PMID:22495306 PMID:22581653 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23360469 PMID:23550958 PMID:23559409 PMID:23662938 PMID:23708187 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:24650168 PMID:24859339 PMID:24876116 PMID:25131622 PMID:25326635 PMID:25326637 PMID:25459969 PMID:25492405 PMID:25533962 PMID:25741868 PMID:25741915 PMID:25772804 PMID:25937001 PMID:26068938 PMID:26132555 PMID:26283219 PMID:26291284 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26680202 PMID:26689363 PMID:26993267 PMID:27159988 PMID:27328862 PMID:27334371 PMID:27353043 PMID:27491411 PMID:27779742 PMID:27781031 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28096396 PMID:28135719 PMID:28150151 PMID:28183995 PMID:28256214 PMID:28379373 PMID:28492532 PMID:28554332 PMID:28628100 PMID:28708303 PMID:28709814 PMID:28947817 PMID:29068549 PMID:29100083 PMID:29186148 PMID:29215089 PMID:29358611 PMID:29389947 PMID:29635106 PMID:29655203 PMID:29691040 PMID:29720203 PMID:29844171 PMID:29852413 PMID:29933521 PMID:30109124 PMID:30165711 PMID:30361185 PMID:30381472 PMID:30415926 PMID:30552426 PMID:30564305 PMID:30619928 PMID:30813884 PMID:30928199 PMID:31031587 PMID:31054490 PMID:31175295 PMID:31302675 PMID:31332282 PMID:31487502 PMID:31558572 PMID:31785789 PMID:31904120 PMID:31924505 PMID:31957018 PMID:31981491 PMID:32090326 PMID:32139178 PMID:32400968 PMID:32488064 PMID:32651551 PMID:32750235 PMID:32845893 PMID:32860008 PMID:32893078 PMID:33000761 PMID:33004838 PMID:33084218 PMID:33278787 PMID:33731876 PMID:33818783 PMID:33851778 PMID:34055682 PMID:34156984 PMID:34469436 PMID:34782754 PMID:34894057 PMID:35431799 PMID:35571021 PMID:35715422 PMID:35887114 PMID:37578743 More...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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Aldh16a1 |
aldehyde dehydrogenase 16 family, member A1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,626,727...95,639,808
Ensembl chr 1:95,613,558...95,640,131
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G |
Ankef1 |
ankyrin repeat and EF-hand domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 |
ClinVar |
PMID:28492532 PMID:32733715 |
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NCBI chr 3:123,847,832...123,883,060
Ensembl chr 3:123,847,817...123,883,059
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G |
Ap2a1 |
adaptor related protein complex 2 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,384,306...95,414,170
Ensembl chr 1:95,384,309...95,414,147
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G |
Bcl2l12 |
Bcl2 like 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,472,272...95,480,991
Ensembl chr 1:95,472,272...95,480,991
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G |
Cd37 |
CD37 molecule |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,719,171...95,724,662
Ensembl chr 1:95,719,190...95,724,648
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G |
Cpt1c |
carnitine palmitoyltransferase 1c |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,442,814...95,457,347
Ensembl chr 1:95,442,817...95,457,342
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G |
Dkkl1 |
dickkopf like acrosomal protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,694,010...95,699,259
Ensembl chr 1:95,694,010...95,699,259
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G |
Fcgrt |
Fc gamma receptor and transporter |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,574,436...95,584,171
Ensembl chr 1:95,567,175...95,584,084
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G |
Flt3lg |
Fms related receptor tyrosine kinase 3 ligand |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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G |
Fuz |
fuzzy planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,379,542...95,384,532
Ensembl chr 1:95,379,587...95,384,530
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G |
Hao1 |
hydroxyacid oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 |
ClinVar |
PMID:28492532 PMID:32733715 |
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NCBI chr 3:121,757,400...121,828,721
Ensembl chr 3:121,771,836...121,828,721
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G |
Hrc |
histidine rich calcium binding protein |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984
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G |
Irf3 |
interferon regulatory factor 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,479,966...95,484,926
Ensembl chr 1:95,479,821...95,484,935
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G |
Jag1 |
jagged canonical Notch ligand 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 |
ClinVar |
PMID:28492532 PMID:32733715 |
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NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Kash5 |
KASH domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,668,918...95,691,353
Ensembl chr 1:95,668,886...95,691,368
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G |
Kcna7 |
potassium voltage-gated channel subfamily A member 7 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,886,073...95,891,565
Ensembl chr 1:95,886,073...95,891,565
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G |
Kcnh5 |
potassium voltage-gated channel subfamily H member 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 |
ClinVar |
PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532 PMID:31440721 PMID:32725632 PMID:34136434 PMID:35874597 PMID:36307226 More...
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NCBI chr 6:93,615,174...93,908,107
Ensembl chr 6:93,624,529...93,908,107
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G |
Lamp5 |
lysosomal-associated membrane protein family, member 5 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 |
ClinVar |
PMID:28492532 PMID:32733715 |
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NCBI chr 3:123,372,462...123,384,973
Ensembl chr 3:123,372,462...123,384,952
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G |
Lhb |
luteinizing hormone subunit beta |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972 Ensembl chr 1:95,900,984...95,901,972
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G |
Lin7b |
lin-7 homolog B, crumbs cell polarity complex component |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,846,888...95,849,628
Ensembl chr 1:95,846,243...95,849,977
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G |
Med25 |
mediator complex subunit 25 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
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G |
Mir150 |
microRNA 150 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
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G |
Mkks |
MKKS centrosomal shuttling protein |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 |
ClinVar |
PMID:28492532 PMID:32733715 |
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NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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G |
Nosip |
nitric oxide synthase interacting protein |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,543,329...95,559,101
Ensembl chr 1:95,543,360...95,558,650
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G |
Ntf4 |
neurotrophin 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,893,560...95,896,391
Ensembl chr 1:95,893,457...95,897,243
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G |
Pak5 |
p21 (RAC1) activated kinase 5 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 |
ClinVar |
PMID:28492532 PMID:32733715 |
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NCBI chr 3:123,395,678...123,703,967
Ensembl chr 3:123,396,497...123,703,930
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G |
Pih1d1 |
PIH1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,639,597...95,645,295
Ensembl chr 1:95,639,592...95,645,290
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G |
Plcb1 |
phospholipase C beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 |
OMIM CTD ClinVar |
PMID:9305844 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20833646 PMID:22690784 PMID:24684524 PMID:24747189 PMID:25741868 PMID:25950944 PMID:26467025 PMID:26818157 PMID:28492532 PMID:31883110 PMID:32733715 More...
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NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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G |
Plcb4 |
phospholipase C, beta 4 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 |
ClinVar |
PMID:28492532 PMID:32733715 |
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NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 |
ClinVar |
PMID:9536098 PMID:10446192 PMID:10446193 PMID:11112660 PMID:11704758 PMID:15136689 PMID:15381417 PMID:15385968 PMID:15749016 PMID:16199547 PMID:17576681 PMID:18005052 PMID:18266750 PMID:18414213 PMID:18678442 PMID:18845387 PMID:20118933 PMID:20852255 PMID:21307862 PMID:21560189 PMID:22055185 PMID:22508754 PMID:23224214 PMID:23708187 PMID:23833122 PMID:24033266 PMID:24938145 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27125728 PMID:27232581 PMID:27890643 PMID:28453785 PMID:28492532 PMID:29056246 PMID:29243230 PMID:29261713 PMID:29498415 PMID:29652299 PMID:29655203 PMID:29720203 PMID:29924869 PMID:30039206 PMID:31041400 PMID:31061747 PMID:31167812 PMID:31436889 PMID:31707899 PMID:32010037 PMID:32056211 PMID:32347949 PMID:32504494 PMID:32980744 PMID:33654647 PMID:34009545 PMID:34040816 PMID:35354845 More...
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NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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G |
Ppfia3 |
PTPRF interacting protein alpha 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,817,110...95,845,950
Ensembl chr 1:95,817,110...95,845,798
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G |
Prmt1 |
protein arginine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,458,853...95,468,176
Ensembl chr 1:95,458,850...95,468,345
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G |
Prr12 |
proline rich 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,510,015...95,534,002
Ensembl chr 1:95,509,931...95,533,652
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G |
Prrg2 |
proline rich and Gla domain 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,534,276...95,543,364
Ensembl chr 1:95,534,290...95,543,425
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G |
Pth2 |
parathyroid hormone 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:95,666,525...95,667,174
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G |
Ptov1 |
PTOV1, extended AT-hook containing adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:95,347,065...95,354,514
Ensembl chr 1:95,347,068...95,353,613
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G |
Rcn3 |
reticulocalbin 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:95,564,503...95,573,762
Ensembl chr 1:95,564,380...95,573,725
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G |
Rpl13a |
ribosomal protein L13A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:95,609,374...95,612,557
Ensembl chr 1:95,609,370...95,620,463
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G |
Rps11 |
ribosomal protein S11 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:95,605,690...95,607,798
Ensembl chr 1:95,605,692...95,607,874
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G |
Rras |
RAS related |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:95,500,582...95,504,362
Ensembl chr 1:95,500,566...95,504,357
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G |
Scaf1 |
SR-related CTD-associated factor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:95,485,448...95,499,389
Ensembl chr 1:95,485,448...95,496,029
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G |
Slc17a7 |
solute carrier family 17 member 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:95,649,709...95,661,591
Ensembl chr 1:95,649,745...95,661,588
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G |
Slc6a16 |
solute carrier family 6, member 16 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:95,721,690...95,750,191
Ensembl chr 1:95,726,140...95,750,266
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G |
Slx4ip |
SLX4 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 |
ClinVar |
PMID:28492532 PMID:32733715 |
|
NCBI chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797
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G |
Snap25 |
synaptosome associated protein 25 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 |
ClinVar |
PMID:28492532 PMID:32733715 |
|
NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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G |
Snrnp70 |
small nuclear ribonucleoprotein U1 subunit 70 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:95,856,038...95,876,434
Ensembl chr 1:95,856,036...95,876,392
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G |
Tead2 |
TEA domain transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:95,702,366...95,719,186
Ensembl chr 1:95,703,005...95,719,186
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G |
Tmx4 |
thioredoxin-related transmembrane protein 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 |
ClinVar |
PMID:28492532 PMID:32733715 |
|
NCBI chr 3:121,856,237...121,899,680
Ensembl chr 3:121,856,261...121,899,641
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G |
Trpm4 |
transient receptor potential cation channel, subfamily M, member 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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G |
Tsks |
testis-specific serine kinase substrate |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:95,414,312...95,441,670
Ensembl chr 1:95,414,157...95,441,662
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G |
Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 |
ClinVar |
PMID:20554659 PMID:25741868 PMID:28492532 |
|
NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
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G |
Lysmd2 |
LysM domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 |
ClinVar |
|
|
NCBI chr 8:76,378,984...76,394,396
Ensembl chr 8:76,379,219...76,394,654
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G |
Scg3 |
secretogranin III |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 |
ClinVar |
|
|
NCBI chr 8:76,399,777...76,442,015
Ensembl chr 8:76,399,777...76,442,015
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12374766 PMID:15525788 PMID:15800189 PMID:17576681 PMID:17881658 PMID:18414213 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:23708187 PMID:23934111 PMID:24194747 PMID:24352161 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25568300 PMID:25666757 PMID:25725044 PMID:25741868 PMID:25785782 PMID:25799905 PMID:25818041 PMID:25849321 PMID:25914188 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235738 PMID:26235739 PMID:26252990 PMID:26297079 PMID:26467025 PMID:26647175 PMID:26677014 PMID:26680202 PMID:26900580 PMID:26993267 PMID:27165006 PMID:27210545 PMID:27375106 PMID:27779742 PMID:27864847 PMID:27875746 PMID:28135719 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28708303 PMID:28735751 PMID:28923014 PMID:28973083 PMID:29100083 PMID:29186148 PMID:29263050 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:30078772 PMID:30171078 PMID:30185235 PMID:30615093 PMID:30951195 PMID:31026061 PMID:31680123 PMID:31780880 PMID:31904124 PMID:32581362 PMID:32845893 PMID:32901917 PMID:32916281 PMID:33201365 PMID:35599849 PMID:35701389 More...
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|
NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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G |
Tmod2 |
tropomodulin 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 |
ClinVar |
|
|
NCBI chr 8:76,316,736...76,366,003
Ensembl chr 8:76,325,667...76,365,720
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G |
Abca2 |
ATP binding cassette subfamily A member 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
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G |
Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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G |
Adamtsl2 |
ADAMTS-like 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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G |
Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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G |
Ajm1 |
apical junction component 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321
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G |
Ak8 |
adenylate kinase 8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,028,895...12,144,468
Ensembl chr 3:12,028,954...12,144,465
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G |
Anapc2 |
anaphase promoting complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
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G |
Arrdc1 |
arrestin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197
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G |
Barhl1 |
BarH-like homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649
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G |
Brd3 |
bromodomain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577
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G |
C8g |
complement C8 gamma chain |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495
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G |
Cacfd1 |
calcium channel flower domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,335,881...10,352,437
Ensembl chr 3:10,335,881...10,343,406
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G |
Cacna1b |
calcium voltage-gated channel subunit alpha1 B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
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G |
Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072
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G |
Card9 |
caspase recruitment domain family, member 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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G |
Ccdc183 |
coiled-coil domain containing 183 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194
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G |
Cel |
carboxyl ester lipase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
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G |
Cfap77 |
cilia and flagella associated protein 77 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,258,453...12,381,319
Ensembl chr 3:12,258,453...12,381,319
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G |
Cimip2a |
ciliary microtubule inner protein 2A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961
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G |
Clic3 |
chloride intracellular channel 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018
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G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Cysrt1 |
cysteine rich tail 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721
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G |
Dbh |
dopamine beta-hydroxylase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
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G |
Ddx31 |
DEAD-box helicase 31 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,172,829...12,238,392
Ensembl chr 3:12,172,836...12,238,873
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G |
Dipk1b |
divergent protein kinase domain 1B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
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G |
Dnlz |
DNL-type zinc finger |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:9,169,793...9,180,551
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G |
Dph7 |
diphthamide biosynthesis 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:7,770,368...7,778,994
Ensembl chr 3:7,770,379...7,778,982
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G |
Dpp7 |
dipeptidylpeptidase 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355
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G |
Edf1 |
endothelial differentiation-related factor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363
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G |
Egfl7 |
EGF-like-domain, multiple 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
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G |
Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
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G |
Entpd8 |
ectonucleoside triphosphate diphosphohydrolase 8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
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G |
Entr1 |
endosome associated trafficking regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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G |
Fam163b |
family with sequence similarity 163, member B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,437,383...10,466,458
Ensembl chr 3:10,437,383...10,466,458
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G |
Fbxw5 |
F-box and WD repeat domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092
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G |
Fcnb |
ficolin B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,393,713...11,402,198
Ensembl chr 3:11,393,739...11,402,151
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G |
Fut7 |
fucosyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
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G |
Gbgt1 |
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,826,131...11,829,745
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G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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G |
Glt6d1 |
glycosyltransferase 6 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335
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G |
Gpsm1 |
G-protein signaling modulator 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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G |
Gtf3c4 |
general transcription factor IIIC subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,154,803...12,172,795
Ensembl chr 3:12,154,805...12,172,725
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G |
Gtf3c5 |
general transcription factor IIIC subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,893,867...11,914,187
Ensembl chr 3:11,893,875...11,914,180
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 | ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy OMIM:614959 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16025100 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18479385 PMID:19264732 PMID:19597493 PMID:19668216 PMID:20301348 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23086396 PMID:23086397 PMID:23386033 PMID:23934111 PMID:24029078 PMID:24120652 PMID:24319675 PMID:24463883 PMID:24591078 PMID:25042079 PMID:25132448 PMID:25326635 PMID:25326637 PMID:25339316 PMID:25482562 PMID:25516202 PMID:25590979 PMID:25640679 PMID:25741868 PMID:25741909 PMID:25741916 PMID:25963545 PMID:25985138 PMID:26105150 PMID:26122718 PMID:26140313 PMID:26269628 PMID:26369628 PMID:26467025 PMID:26597493 PMID:26648591 PMID:26740507 PMID:26784557 PMID:26786403 PMID:26820064 PMID:26993267 PMID:27029629 PMID:27064559 PMID:27081515 PMID:27159321 PMID:27578169 PMID:27652284 PMID:27779742 PMID:27891178 PMID:28081520 PMID:28125082 PMID:28366665 PMID:28488083 PMID:28492532 PMID:28554332 PMID:28973083 PMID:28987752 PMID:29037447 PMID:29100083 PMID:29186148 PMID:29196578 PMID:29196579 PMID:29314583 PMID:29358611 PMID:29390993 PMID:29422393 PMID:30112700 PMID:30182418 PMID:30185235 PMID:30804880 PMID:30868116 PMID:30903923 PMID:31208268 PMID:31388363 PMID:31532594 PMID:31560846 PMID:31618474 PMID:31872048 PMID:31875159 PMID:32086284 PMID:32167590 PMID:32613771 PMID:33650128 PMID:34114611 PMID:35571021 PMID:35982159 PMID:35982160 PMID:36117860 PMID:37177976 More...
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NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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G |
Lcn1 |
lipocalin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577
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G |
Lcn10 |
lipocalin 10 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333
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G |
Lcn12 |
lipocalin 12 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,312,412...8,315,392
Ensembl chr 3:8,305,920...8,323,495
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G |
Lcn6 |
lipocalin 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574
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G |
Lcn8 |
lipocalin 8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918
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G |
Lcn9 |
lipocalin 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200
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G |
Lhx3 |
LIM homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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G |
Lrrc26 |
leucine rich repeat containing 26 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687
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G |
Mamdc4 |
MAM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003
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G |
Man1b1 |
mannosidase, alpha, class 1B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
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G |
Med22 |
mediator complex subunit 22 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,233,754...10,238,836
Ensembl chr 3:10,233,754...10,238,836
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G |
Mir126a |
microRNA 126a |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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G |
Mir126b |
microRNA 126b |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:19264732 PMID:27891178 PMID:28492532 |
|
NCBI chr 3:9,415,087...9,415,159
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G |
Mrpl41 |
mitochondrial ribosomal protein L41 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818
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G |
Mrps2 |
mitochondrial ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:11,801,310...11,806,313
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G |
Mymk |
myomaker, myoblast fusion factor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
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G |
Nacc2 |
NACC family member 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
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G |
Ndor1 |
NADPH dependent diflavin oxidoreductase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860
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G |
Nelfb |
negative elongation factor complex member B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403
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G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Noxa1 |
NADPH oxidase activator 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967
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G |
Npdc1 |
neural proliferation, differentiation and control, 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866
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Nrarp |
Notch-regulated ankyrin repeat protein |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133
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Nsmf |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614
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Obp2a |
odorant binding protein 2A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,505,963...8,509,269
Ensembl chr 3:8,505,990...8,509,269
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Obp2b |
odorant binding protein 2B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,582,074...8,585,258
Ensembl chr 3:8,582,074...8,585,258
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Olfm1 |
olfactomedin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,520,522...11,558,240
Ensembl chr 3:11,520,729...11,558,239
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Paep |
progestagen associated endometrial protein |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430
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G |
Paxx |
PAXX, non-homologous end joining factor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,274,762...8,276,322
Ensembl chr 3:8,274,762...8,276,521
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G |
Phpt1 |
phosphohistidine phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,392,926...8,394,325
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Pierce1 |
piercer of microtubule wall 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,797,031...11,801,568
Ensembl chr 3:11,797,031...11,801,568
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Pmpca |
peptidase, mitochondrial processing subunit alpha |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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Pnpla7 |
patatin-like phospholipase domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497
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Ppp1r26 |
protein phosphatase 1, regulatory subunit 26 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,781,504...11,790,076
Ensembl chr 3:11,781,295...11,790,073
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Ptgds |
prostaglandin D2 synthase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
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G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
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Rabl6 |
RAB, member RAS oncogene family-like 6 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611
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Ralgds |
ral guanine nucleotide dissociation stimulator |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,839,686...11,880,059
Ensembl chr 3:11,839,416...11,880,059
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G |
Rexo4 |
REX4 homolog, 3'-5' exonuclease |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,280,654...10,291,003
Ensembl chr 3:10,280,654...10,290,996
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Rnf208 |
ring finger protein 208 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844
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Rnf224 |
ring finger protein 224 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,050,088...8,052,416
Ensembl chr 3:8,051,475...8,051,945
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Rnu6atac |
RNA, U6atac small nuclear |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:211,550,817...211,550,946
Ensembl chr 2:211,550,817...211,550,946
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G |
Rpl7a |
ribosomal protein L7A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,239,026...10,241,703
Ensembl chr 3:10,239,001...10,241,716
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G |
Rxra |
retinoid X receptor alpha |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
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G |
Sapcd2 |
suppressor APC domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546
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G |
Sardh |
sarcosine dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy |
ClinVar |
PMID:25741868 |
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
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G |
Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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G |
Slc2a6 |
solute carrier family 2 member 6 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,348,395...10,355,208
Ensembl chr 3:10,348,395...10,355,208
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G |
Slc34a3 |
solute carrier family 34 member 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
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G |
Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
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G |
Spaca9 |
sperm acrosome associated 9 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,019,376...12,028,801
Ensembl chr 3:12,019,363...12,029,119
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G |
Ssna1 |
SS nuclear autoantigen 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356
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G |
Stkld1 |
serine/threonine kinase-like domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,261,583...10,280,850
Ensembl chr 3:10,261,828...10,280,566
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G |
Stpg3 |
sperm-tail PG-rich repeat containing 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601
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G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
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G |
Surf2 |
surfeit 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,244,654...10,248,502
Ensembl chr 3:10,244,654...10,250,077
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G |
Surf4 |
surfeit 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,248,360...10,261,537
Ensembl chr 3:10,241,837...10,263,315
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G |
Surf6 |
surfeit 6 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,221,450...10,232,306
Ensembl chr 3:10,221,452...10,232,251
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G |
Tmem141 |
transmembrane protein 141 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491
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Tmem203 |
transmembrane protein 203 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867
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Tmem210 |
transmembrane protein 210 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,100,595...8,101,645
Ensembl chr 3:8,100,590...8,101,643
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G |
Tmem250 |
transmembrane protein 250 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
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G |
Tor4a |
torsin family 4, member A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042
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G |
Tprn |
taperin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642
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G |
Traf2 |
Tnf receptor-associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538
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G |
Tsc1 |
TSC complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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G |
Ttf1 |
transcription termination factor 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,384,626...12,409,257
Ensembl chr 3:12,384,655...12,409,257
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G |
Tubb4b |
tubulin, beta 4B class IVb |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,037,838...8,040,294
Ensembl chr 3:8,037,799...8,040,296
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G |
Uap1l1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443
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G |
Ubac1 |
UBA domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
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G |
Vav2 |
vav guanine nucleotide exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,584,688...10,754,128
Ensembl chr 3:10,584,688...10,754,052
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G |
Wdr5 |
WD repeat domain 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,836,964...10,856,682
Ensembl chr 3:10,837,025...10,856,671
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G |
Zmynd19 |
zinc finger, MYND-type containing 19 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 |
ClinVar |
PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:27891178 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,758,133...7,769,722
Ensembl chr 3:7,758,133...7,767,514
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G |
St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 15 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 15 | ClinVar Annotator: match by term: Epilepsy due to perinatal stroke |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:23252400 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30089820 PMID:31584066 More...
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NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
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ISO ISS |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 16 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16 OMIM:615338 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:17576681 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:25169651 PMID:25401298 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:27281533 PMID:27784474 PMID:28292732 PMID:28428906 PMID:28492532 PMID:28726039 PMID:30335140 PMID:30680869 PMID:31112829 PMID:31216405 PMID:31780880 PMID:32004315 PMID:33619735 More...
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NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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G |
Gnao1 |
G protein subunit alpha o1 |
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ISO ISS |
OMIM:615473 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 17 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 17 |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:23993195 PMID:25356970 PMID:25533962 PMID:25590979 PMID:25741868 PMID:25966631 PMID:26060304 PMID:26467025 PMID:26485252 PMID:26633542 PMID:26795593 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:27916449 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28503590 PMID:28628939 PMID:28668776 PMID:28688840 PMID:28747448 PMID:28817111 PMID:29389947 PMID:29761117 PMID:29935962 PMID:29961512 PMID:30642806 PMID:30682224 PMID:31130284 PMID:31406558 PMID:31737037 PMID:31780880 PMID:32581362 PMID:33298085 PMID:34122306 PMID:35509770 PMID:35722775 PMID:35782616 More...
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NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
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G |
Ep300 |
E1A binding protein p300 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
Hyi |
hydroxypyruvate isomerase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 |
ClinVar |
PMID:25741868 |
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NCBI chr 5:131,894,575...131,897,709
Ensembl chr 5:131,894,598...131,897,251
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G |
Szt2 |
SZT2 subunit of KICSTOR complex |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 | ClinVar Annotator: match by term: SZT2-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23932106 PMID:25741868 PMID:25741905 PMID:26467025 PMID:27159321 PMID:27248490 PMID:28491533 PMID:28492532 PMID:28556953 PMID:29100083 PMID:29358611 PMID:29696782 PMID:30359774 PMID:30560016 PMID:30564332 PMID:30755392 PMID:30818181 PMID:32402703 PMID:32723703 PMID:35773235 PMID:36034301 More...
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NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
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G |
Gabra1 |
gamma-aminobutyric acid type A receptor subunit alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 19 |
CTD ClinVar OMIM |
PMID:16718694 PMID:18414213 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27353043 PMID:27521439 PMID:28492532 PMID:28554332 PMID:29389947 PMID:29655203 PMID:32047208 PMID:32238909 More...
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NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
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G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
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G |
Atp6v1a |
ATPase H+ transporting V1 subunit A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:25741868 |
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NCBI chr11:56,561,444...56,614,694
Ensembl chr11:56,560,974...56,614,694
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G |
Bclaf3 |
BCLAF1 and THRAP3 family member 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:35,257,228...35,328,883
Ensembl chr X:35,263,576...35,328,816
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G |
Bend2 |
BEN domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 More...
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NCBI chr X:33,401,122...33,465,427
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
severity |
ISO ISS |
DNA:mutations:cds: ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: CDKL5-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 | ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2 OMIM:300672 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:9536098 PMID:10533068 PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16199547 PMID:16326141 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17304053 PMID:17546640 PMID:17576681 PMID:17993579 PMID:18063413 PMID:18076117 PMID:18266744 PMID:18414213 PMID:18564362 PMID:18790821 PMID:18809835 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19362436 PMID:19396824 PMID:19428276 PMID:19471977 PMID:19564592 PMID:19740913 PMID:19763152 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20307669 PMID:20397747 PMID:20479760 PMID:20493745 PMID:20602487 PMID:20848651 PMID:21160487 PMID:21293276 PMID:21309761 PMID:21318334 PMID:21482751 PMID:21765152 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22264704 PMID:22406018 PMID:22430159 PMID:22670135 PMID:22678952 PMID:22779007 PMID:22812903 PMID:22832775 PMID:22867051 PMID:22872100 PMID:22922712 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23184456 PMID:23236174 PMID:23238081 PMID:23242510 PMID:23262346 PMID:23583054 PMID:23647072 PMID:23708187 PMID:23756444 PMID:23828526 PMID:23934111 PMID:24564546 PMID:24715584 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25640679 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26112015 PMID:26271793 PMID:26467025 PMID:26482601 PMID:26544041 PMID:26993267 PMID:27081548 PMID:27187038 PMID:27265524 PMID:27334371 PMID:27343026 PMID:27391121 PMID:27599155 PMID:27770071 PMID:27779742 PMID:27781031 PMID:27824329 PMID:27848944 PMID:28074849 PMID:28386848 PMID:28492532 PMID:28837158 PMID:29095814 PMID:29100083 PMID:29186148 PMID:29190809 PMID:29264392 PMID:29390993 PMID:29420175 PMID:29444904 PMID:29455050 PMID:29655203 PMID:29852413 PMID:30182498 PMID:30266825 PMID:30460546 PMID:30624022 PMID:30776697 PMID:30898514 PMID:30945278 PMID:30945684 PMID:31031587 PMID:31171384 PMID:31313283 PMID:31487502 PMID:31492455 PMID:31690835 PMID:31780880 PMID:31791873 PMID:33436160 PMID:33538404 PMID:34120799 PMID:34229227 PMID:34490615 PMID:36703223 PMID:22678952 More...
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RGD:12791015 |
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Eif1ax |
eukaryotic translation initiation factor 1A, X-linked |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
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G |
Map3k15 |
mitogen-activated protein kinase kinase kinase 15 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,713,150...34,859,054
Ensembl chr X:34,713,175...34,858,807
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G |
Map7d2 |
MAP7 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:35,372,453...35,488,073
Ensembl chr X:35,372,700...35,488,091
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G |
Nhs |
NHS actin remodeling regulator |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 More...
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NCBI chr X:32,553,300...32,892,961
Ensembl chr X:32,552,026...32,889,992
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G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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G |
Phka2 |
phosphorylase kinase regulatory subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,170,959...34,293,498
Ensembl chr X:34,171,323...34,293,466
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G |
Ppef1 |
protein phosphatase with EF-hand domain 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:33,994,503...34,151,704
Ensembl chr X:34,021,350...34,151,701
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G |
Rai2 |
retinoic acid induced 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 More...
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NCBI chr X:32,948,656...33,011,222
Ensembl chr X:32,948,656...33,011,264
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G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:9536098 PMID:10533068 PMID:15499549 PMID:16813600 PMID:17304053 PMID:17546640 PMID:17576681 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:22872100 PMID:23064044 PMID:23184456 PMID:23756444 PMID:23828526 PMID:25315662 PMID:25640679 PMID:25741868 PMID:26112015 PMID:26467025 PMID:27824329 PMID:28492532 PMID:29264392 PMID:29655203 PMID:30624022 PMID:30945684 PMID:36703223 More...
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NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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G |
Scml1 |
Scm polycomb group protein like 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 More...
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NCBI chr X:32,893,100...32,912,686
Ensembl chr X:32,894,327...32,911,366
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G |
Scml2 |
Scm polycomb group protein like 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 More...
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NCBI chr X:33,523,179...33,677,672
Ensembl chr X:33,524,530...33,652,742
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G |
Sh3kbp1 |
SH3 domain-containing kinase-binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747
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G |
Snap25 |
synaptosome associated protein 25 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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G |
Acsm4 |
acyl-CoA synthetase medium-chain family member 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341
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G |
Aicda |
activation-induced cytidine deaminase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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G |
Apobec1 |
apolipoprotein B mRNA editing enzyme catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
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G |
Atn1 |
atrophin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
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G |
C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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G |
C1rl |
complement C1r subcomponent like |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134
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G |
C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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G |
C3ar1 |
complement C3a receptor 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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G |
Cd163 |
CD163 molecule |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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G |
Cdca3 |
cell division cycle associated 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
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G |
Clec4a1 |
C-type lectin domain family 4, member A1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008
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G |
Clec4a3 |
C-type lectin domain family 4, member A3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817
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G |
Clec4b2 |
C-type lectin domain family 4, member B2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240
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G |
Clec4d |
C-type lectin domain family 4, member D |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848
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G |
Clec4e |
C-type lectin domain family 4, member E |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767
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G |
Clec6a-ps1 |
C-type lectin domain family 6, member A, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605 Ensembl chr 4:156,539,408...156,558,605
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G |
Clstn3 |
calsyntenin 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769
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G |
Dppa3 |
developmental pluripotency-associated 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861 Ensembl chr 5:155,815,296...155,854,861
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G |
Emg1 |
EMG1 N1-specific pseudouridine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
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G |
Eno2 |
enolase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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G |
Fam90a1a |
family with sequence similarity 90 member A1A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr16:70,098,439...70,106,147
Ensembl chr16:70,098,740...70,101,241
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G |
Foxj2 |
forkhead box J2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518
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G |
Gdf3 |
growth differentiation factor 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
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G |
Gnb3 |
G protein subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
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G |
Grcc10 |
gene rich cluster, C10 gene |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,551,276...157,552,924
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G |
Lpcat3 |
lysophosphatidylcholine acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880
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G |
Lrrc23 |
leucine rich repeat containing 23 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860
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G |
Mfap5 |
microfibril associated protein 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458
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G |
Mir141 |
microRNA 141 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
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G |
Mir200c |
microRNA 200c |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,523,679...157,523,747
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G |
Nanog |
Nanog homeobox |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
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G |
Necap1 |
NECAP endocytosis associated 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:24399846 PMID:25558065 PMID:25741868 PMID:28492532 PMID:30525121 PMID:30626896 More...
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NCBI chr 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068
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G |
P3h3 |
prolyl 3-hydroxylase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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G |
Phb2 |
prohibitin 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272
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G |
Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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G |
Rimklb |
ribosomal modification protein rimK-like family member B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,664,392...155,706,888
Ensembl chr 4:155,664,375...155,706,711
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G |
Slc2a3 |
solute carrier family 2 member 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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G |
Spsb2 |
splA/ryanodine receptor domain and SOCS box containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,613,404...157,615,293
Ensembl chr 4:157,613,401...157,615,284
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G |
Tpi1 |
triosephosphate isomerase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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G |
Usp5 |
ubiquitin specific peptidase 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,619,663...157,634,681
Ensembl chr 4:157,619,643...157,634,711
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|
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G |
Alg6 |
ALG6, alpha-1,3-glucosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:114,404,972...114,454,440
Ensembl chr 5:114,405,010...114,454,439
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G |
Angptl3 |
angiopoietin-like 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 |
ClinVar |
PMID:22247256 PMID:24814191 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957
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G |
Atg4c |
autophagy related 4C, cysteine peptidase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:113,867,218...113,935,534
Ensembl chr 5:113,867,092...113,934,830
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G |
Dock7 |
dedicator of cytokinesis 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22247256 PMID:24814191 PMID:25363768 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30807358 PMID:31175295 PMID:31785789 More...
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NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813
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G |
Foxd3 |
forkhead box D3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:114,335,084...114,337,450
Ensembl chr 5:114,335,408...114,336,817
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|
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G |
Hcn1 |
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 24 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 24 |
OMIM CTD ClinVar |
PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 PMID:28488083 PMID:28492532 PMID:30351409 PMID:33822003 More...
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NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774
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G |
4933427D14Rikl |
RIKEN cDNA 4933427D14 gene like |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 |
|
NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
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G |
Acadvl |
acyl-CoA dehydrogenase, very long chain |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 |
|
NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
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G |
Alox12 |
arachidonate 12-lipoxygenase, 12S type |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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G |
Asgr1 |
asialoglycoprotein receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631
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G |
Asgr2 |
asialoglycoprotein receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617
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G |
Bcl6b |
BCL6B, transcription repressor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974
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G |
C10h17orf100 |
similar to human chromosome 17 open reading frame 100 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 |
|
NCBI chr10:56,840,451...56,843,674
Ensembl chr10:56,832,412...56,843,871
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G |
C10h17orf49 |
similar to human chromosome 17 open reading frame 49 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601
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G |
C1qbp |
complement C1q binding protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:55,699,954...55,704,605
Ensembl chr10:55,699,954...55,704,649
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G |
Clec10a |
C-type lectin domain containing 10A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435
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G |
Derl2 |
derlin 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:55,727,764...55,739,442
Ensembl chr10:55,727,643...55,739,518
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G |
Dhx33 |
DEAH-box helicase 33 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:55,708,102...55,724,618
Ensembl chr10:55,705,756...55,724,567
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G |
Dlg4 |
discs large MAGUK scaffold protein 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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G |
Fbxo39 |
F-box protein 39 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906
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G |
Med31 |
mediator complex subunit 31 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 |
|
NCBI chr10:56,836,944...56,840,326
Ensembl chr10:56,836,944...56,840,326
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G |
Mir195 |
microRNA 195 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
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G |
Mis12 |
MIS12 kinetochore complex component |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:55,739,741...55,747,915
Ensembl chr10:55,739,564...55,751,068
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G |
Nlrp1a |
NLR family, pyrin domain containing 1A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
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G |
Nup88 |
nucleoporin 88 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257
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G |
Pimreg |
PICALM interacting mitotic regulator |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 |
|
NCBI chr10:56,669,603...56,674,540
Ensembl chr10:56,669,675...56,674,791
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G |
Pitpnm3 |
PITPNM family member 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 |
|
NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
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G |
Rnasek |
ribonuclease K |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,954,904...54,956,622
Ensembl chr10:54,951,991...54,956,601
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G |
Rpain |
RPA interacting protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:55,692,410...55,699,910
Ensembl chr10:55,692,417...55,699,933
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G |
Slc13a5 |
solute carrier family 13 member 5 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10615133 PMID:15249368 PMID:15347646 PMID:16199547 PMID:17576681 PMID:18414213 PMID:24033266 PMID:24995870 PMID:25741868 PMID:25741909 PMID:26384929 PMID:26467025 PMID:26960556 PMID:27261973 PMID:27600704 PMID:27913086 PMID:28327206 PMID:28492532 PMID:28673551 PMID:30054523 PMID:30525188 PMID:31780880 PMID:32551328 PMID:33040525 PMID:33063863 PMID:33258288 PMID:34233239 PMID:34489640 More...
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|
NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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G |
Slc16a11 |
solute carrier family 16, member 11 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915
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G |
Slc16a13 |
solute carrier family 16, member 13 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788
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G |
Tekt1 |
tektin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572
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G |
Txndc17 |
thioredoxin domain containing 17 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 |
|
NCBI chr10:56,832,749...56,835,721
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G |
Wscd1 |
WSC domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:56,385,858...56,426,442
Ensembl chr10:56,395,874...56,424,677
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G |
Xaf1 |
XIAP associated factor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 |
ClinVar |
PMID:28492532 |
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NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770
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G |
Arfgef2 |
ADP ribosylation factor guanine nucleotide exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856
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G |
Cse1l |
chromosome segregation 1 like |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:155,641,104...155,678,866
Ensembl chr 3:155,641,166...155,678,865
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G |
Ddx27 |
DEAD-box helicase 27 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:155,744,182...155,763,380
Ensembl chr 3:155,744,150...155,763,372
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G |
Kcnb1 |
potassium voltage-gated channel subfamily B member 1 |
exacerbates susceptibility |
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 | ClinVar Annotator: match by term: KCNB1-related disorder CTD Direct Evidence: marker/mechanism DNA:missense mutation:CDS:p.G379R (mouse) DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human) |
OMIM ClinVar CTD RGD |
PMID:3153310 PMID:8698327 PMID:9536098 PMID:17576681 PMID:19029374 PMID:25131622 PMID:25164438 PMID:25741868 PMID:26467025 PMID:26477325 PMID:26503721 PMID:26648591 PMID:27652284 PMID:27928161 PMID:28173649 PMID:28252636 PMID:28492532 PMID:28806457 PMID:29264397 PMID:29322350 PMID:29758562 PMID:30182498 PMID:31512327 PMID:31513310 PMID:31600826 PMID:31780880 PMID:31791873 PMID:32036363 PMID:32581362 PMID:32954514 PMID:33132203 PMID:33951346 PMID:34490615 PMID:35071126 PMID:35982159 PMID:33132203 PMID:28806457 More...
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RGD:126908009, RGD:126908008 |
NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
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G |
Snord12 |
small nucleolar RNA, C/D box 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 |
ClinVar |
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NCBI chr 3:155,794,227...155,794,317
Ensembl chr 3:155,794,227...155,794,317
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G |
Snord12c |
small nucleolar RNA, C/D box 12C |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 |
ClinVar |
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NCBI chr 3:155,792,525...155,792,616
Ensembl chr 3:155,792,525...155,792,616
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G |
Stau1 |
staufen double-stranded RNA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:155,680,000...155,725,969
Ensembl chr 3:155,680,000...155,725,909
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G |
Znfx1 |
zinc finger, NFX1-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:155,764,073...155,791,777
Ensembl chr 3:155,764,980...155,821,242
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 | ClinVar Annotator: match by term: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 PMID:19874789 PMID:20890276 PMID:22986046 PMID:23033978 PMID:23408766 PMID:24272827 PMID:24759409 PMID:24863970 PMID:25326635 PMID:25356899 PMID:25741868 PMID:25741869 PMID:26350515 PMID:26467025 PMID:26633542 PMID:27353043 PMID:27572814 PMID:27616045 PMID:27818011 PMID:27839871 PMID:28191890 PMID:28283559 PMID:28333917 PMID:28377535 PMID:28492532 PMID:28554332 PMID:28708303 PMID:28856709 PMID:28867141 PMID:29681796 PMID:29851452 PMID:30151416 PMID:30217972 PMID:30315573 PMID:30440138 PMID:30564305 PMID:30842224 PMID:31429998 PMID:31623504 PMID:33604570 PMID:34008892 PMID:34160719 PMID:34212862 More...
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NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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G |
Mbd5 |
methyl-CpG binding domain protein 5 |
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ISO |
ClinVar Annotator: match by term: developmental delay with intractable seizures |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156
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G |
Clec3a |
C-type lectin domain family 3, member A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 |
ClinVar |
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NCBI chr19:42,404,628...42,412,008
Ensembl chr19:42,404,628...42,412,008
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G |
Maf |
MAF bZIP transcription factor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 |
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NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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G |
Ncf2 |
neutrophil cytosolic factor 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 |
ClinVar |
PMID:16937026 PMID:23821607 PMID:25741868 PMID:28492532 |
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NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277
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G |
Vat1l |
vesicle amine transport 1-like |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 |
ClinVar |
|
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NCBI chr19:42,194,511...42,363,835
Ensembl chr19:42,194,533...42,363,831
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G |
Wwox |
WW domain-containing oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11572989 PMID:16199547 PMID:17576681 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24456803 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25741868 PMID:25741916 PMID:26467025 PMID:27717089 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28492532 PMID:29358611 PMID:29675105 PMID:29808465 PMID:29852413 PMID:29905011 PMID:30356099 PMID:30746283 PMID:30853297 PMID:30919572 PMID:31216405 PMID:31618474 PMID:31623504 PMID:35573960 More...
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NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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G |
Aars1 |
alanyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 29 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:21494555 PMID:25741868 PMID:25817015 PMID:28492532 PMID:28493438 PMID:29653220 PMID:31791873 PMID:32571458 PMID:33294374 PMID:34446925 More...
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NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
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G |
Slc25a22 |
solute carrier family 25 member 22 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 |
OMIM CTD ClinVar |
PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25033742 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31589614 More...
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NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
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G |
Abcg1 |
ATP binding cassette subfamily G member 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948
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G |
Adarb1 |
adenosine deaminase, RNA-specific, B1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
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G |
Agpat3 |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:25839329 PMID:28492532 |
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NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358
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G |
Aire |
autoimmune regulator |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
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G |
C20h21orf58 |
similar to human chromosome 21 open reading frame 58 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017
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G |
C2cd2 |
C2 calcium-dependent domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739
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G |
Cbs |
cystathionine beta synthase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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G |
Cfap410 |
cilia and flagella associated protein 410 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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G |
Col6a1 |
collagen type VI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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G |
Col6a2 |
collagen type VI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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G |
Cryaa |
crystallin, alpha A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
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G |
Cstb |
cystatin B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:25839329 PMID:28492532 |
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NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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G |
Dnmt3l |
DNA methyltransferase 3 like |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516
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G |
Ftcd |
formimidoyltransferase cyclodeaminase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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G |
Gatd3a |
glutamine amidotransferase class 1 domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:25839329 PMID:28492532 |
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NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885
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G |
Hsf2bp |
heat shock transcription factor 2 binding protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:25839329 PMID:28492532 |
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NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242
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G |
Icoslg |
inducible T-cell co-stimulator ligand |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703
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G |
Itgb2 |
integrin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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G |
Krtap10-1 |
keratin associated protein 10-1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,855,181...10,864,362
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G |
Krtap10-10 |
keratin associated protein 10-10 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,854,951...10,864,402
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G |
Krtap10-2 |
keratin associated protein 10-2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,888,588...10,889,386
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G |
Krtap10-8 |
keratin associated protein 10-8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,871,991...10,872,927
Ensembl chr20:10,871,991...10,872,844
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G |
Krtap10-9 |
keratin associated protein 10-9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526
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G |
Krtap12-1 |
keratin associated protein 12-1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,917,340...10,917,949
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G |
Krtap12-2 |
keratin associated protein 12-2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,904,422...10,904,751
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G |
Krtap12-4 |
keratin associated protein 12-4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
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NCBI chr20:10,910,350...10,910,682
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G |
Lrrc3 |
leucine rich repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067
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G |
Lss |
lanosterol synthase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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G |
Mcm3ap |
minichromosome maintenance complex component 3 associated protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165
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G |
Ndufv3 |
NADH:ubiquinone oxidoreductase subunit V3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074 Ensembl chr13:9,612,431...9,623,074
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G |
Pcbp3 |
poly(rC) binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210
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G |
Pcnt |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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G |
Pde9a |
phosphodiesterase 9A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
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G |
Pfkl |
phosphofructokinase, liver type |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315
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G |
Pknox1 |
PBX/knotted 1 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727
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G |
Pofut2 |
protein O-fucosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743
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G |
Prdm15 |
PR/SET domain 15 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207
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G |
Pttg1ip |
PTTG1 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316
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G |
Pwp2 |
PWP2, small subunit processome component |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:25839329 PMID:28492532 |
|
NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640
|
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G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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G |
Rrp1 |
ribosomal RNA processing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:25839329 PMID:28492532 |
|
NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144
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G |
Rrp1b |
ribosomal RNA processing 1B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:25839329 PMID:28492532 |
|
NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928
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G |
Rsph1 |
radial spoke head component 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:23935176 PMID:25741868 PMID:26648591 PMID:26993267 PMID:27867041 PMID:28379373 PMID:28492532 PMID:32400968 More...
|
|
NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Sik1 |
salt-inducible kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8596935 PMID:9536098 PMID:15511237 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25741905 PMID:25839329 PMID:26467025 PMID:26567857 PMID:27966542 PMID:28492532 PMID:31780880 PMID:36703223 More...
|
|
NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
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G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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|
G |
Slc37a1 |
solute carrier family 37 member 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892
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G |
Slx9 |
SLX9 ribosome biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521
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G |
Spatc1l |
spermatogenesis and centriole associated 1-like |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301
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|
G |
Sumo3 |
small ubiquitin-like modifier 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877 Ensembl chr20:11,007,148...11,020,877
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|
G |
Tff1 |
trefoil factor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
|
|
G |
Tff2 |
trefoil factor 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
|
|
G |
Tff3 |
trefoil factor 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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G |
Tmprss3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
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G |
Trappc10 |
trafficking protein particle complex subunit 10 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:25839329 PMID:28492532 |
|
NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
|
|
G |
Trpm2 |
transient receptor potential cation channel, subfamily M, member 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181
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G |
Tspear |
thrombospondin-type laminin G domain and EAR repeats |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
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G |
U2af1 |
U2 small nuclear RNA auxiliary factor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
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|
G |
Ubash3a |
ubiquitin associated and SH3 domain containing, A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224
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G |
Ube2g2 |
ubiquitin-conjugating enzyme E2G 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447
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G |
Umodl1 |
uromodulin-like 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146
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G |
Wdr4 |
WD repeat domain 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
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G |
Ybey |
ybeY metalloendoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713
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G |
Zbtb21 |
zinc finger and BTB domain containing 21 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 |
ClinVar |
PMID:8596935 PMID:28492532 |
|
NCBI chr11:37,312,337...37,327,040
Ensembl chr11:37,312,378...37,326,996
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G |
Ak1 |
adenylate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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|
NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
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G |
Angptl2 |
angiopoietin-like 2 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,517,185...16,547,024
Ensembl chr 3:16,517,420...16,548,178
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G |
Bbln |
bublin coiled coil protein |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:15,674,577...15,677,322
Ensembl chr 3:15,674,580...15,677,374
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|
G |
Cdk9 |
cyclin-dependent kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
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|
G |
Cfap157 |
cilia and flagella associated protein 157 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:16,066,521...16,073,495
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G |
Ciz1 |
CDKN1A interacting zinc finger protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:8335685 PMID:10608808 PMID:11031245 PMID:11553700 PMID:18469812 PMID:19084268 PMID:20887364 PMID:22722545 PMID:23977156 PMID:25741868 PMID:25741916 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26611353 PMID:26865513 PMID:28492532 PMID:28554332 PMID:28667181 PMID:29264391 PMID:29668686 PMID:34386584 More...
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|
NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762
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G |
Dnm1 |
dynamin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8335685 PMID:9536098 PMID:10608808 PMID:11031245 PMID:11553700 PMID:16199547 PMID:17576681 PMID:18469812 PMID:19084268 PMID:20428113 PMID:20887364 PMID:22722545 PMID:23781021 PMID:23977156 PMID:25262651 PMID:25533962 PMID:25741868 PMID:25741869 PMID:25741909 PMID:25741916 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26611353 PMID:26865513 PMID:27066543 PMID:27806796 PMID:28135719 PMID:28492532 PMID:28554332 PMID:28667181 PMID:29264391 PMID:29314763 PMID:29397573 PMID:29427836 PMID:29668686 PMID:30097719 PMID:30455886 PMID:31069529 PMID:31920647 PMID:32909139 PMID:33004838 PMID:34172529 PMID:34386584 PMID:36413998 More...
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|
NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
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G |
Dpm2 |
dolichyl-phosphate mannosyltransferase subunit 2, regulatory |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:15,855,952...15,858,867
Ensembl chr 3:15,856,182...15,869,165 Ensembl chr 3:15,856,182...15,869,165
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|
G |
Eeig1 |
estrogen-induced osteoclastogenesis regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:15,822,441...15,854,651
Ensembl chr 3:15,823,144...15,854,643
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|
G |
Eng |
endoglin |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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|
G |
Fpgs |
folylpolyglutamate synthase |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
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|
G |
Garnl3 |
GTPase activating Rap/RanGAP domain-like 3 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,288,718...16,432,308
Ensembl chr 3:16,288,719...16,430,837
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G |
Lcn2 |
lipocalin 2 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Lmx1b |
LIM homeobox transcription factor 1 beta |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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G |
Lrsam1 |
leucine rich repeat and sterile alpha motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
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G |
Naif1 |
nuclear apoptosis inducing factor 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:15,741,239...15,747,672
Ensembl chr 3:15,742,919...15,747,669
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|
G |
Niban2 |
niban apoptosis regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,174,674...16,224,293
Ensembl chr 3:16,174,659...16,224,293
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|
G |
Pip5kl1 |
phosphatidylinositol-4-phosphate 5-kinase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
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|
G |
Ptges2 |
prostaglandin E synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:15,690,501...15,697,688
Ensembl chr 3:15,690,501...15,697,688
|
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G |
Ptrh1 |
peptidyl-tRNA hydrolase 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648
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G |
Ralgps1 |
Ral GEF with PH domain and SH3 binding motif 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,433,323...16,670,276
Ensembl chr 3:16,433,742...16,669,972
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G |
Rpl12 |
ribosomal protein L12 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,264,269...16,266,645
Ensembl chr 3:16,264,251...16,266,642
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G |
Sh2d3c |
SH2 domain containing 3C |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,010,622...16,046,491
Ensembl chr 3:16,010,625...16,046,484
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|
G |
Slc25a25 |
solute carrier family 25 member 25 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216
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G |
Slc2a8 |
solute carrier family 2 member 8 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,274,918...16,284,536
Ensembl chr 3:16,274,925...16,284,464
|
|
G |
St6galnac4 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
|
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G |
St6galnac6 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:15,894,275...15,907,502
Ensembl chr 3:15,885,968...15,907,496
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G |
Stxbp1 |
syntaxin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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|
G |
Tor2a |
torsin family 2, member A |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,048,591...16,053,198
Ensembl chr 3:16,048,549...16,052,634
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Ttc16 |
tetratricopeptide repeat domain 16 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,052,567...16,064,598
Ensembl chr 3:16,048,565...16,064,547
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Zbtb34 |
zinc finger and BTB domain containing 34 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,703,355...16,726,082
Ensembl chr 3:16,703,262...16,726,098
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Zbtb43 |
zinc finger and BTB domain containing 43 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,744,535...16,763,854
Ensembl chr 3:16,744,535...16,763,909
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Zfp35 |
zinc finger protein 35 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr18:15,268,852...15,284,334
Ensembl chr18:15,268,814...15,285,088
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Alx3 |
ALX homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 |
ClinVar |
PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 |
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NCBI chr 2:195,231,197...195,241,609
Ensembl chr 2:195,231,197...195,241,609
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G |
Kcna10 |
potassium voltage-gated channel subfamily A member 10 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 |
ClinVar |
PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 |
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NCBI chr 2:194,786,500...194,798,575
Ensembl chr 2:194,786,500...194,798,575
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Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 | ClinVar Annotator: match by term: KCNA2-Related Disorder | ClinVar Annotator: match by term: KCNA2-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:17634333 PMID:18414213 PMID:20584892 PMID:20696761 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25741916 PMID:25751627 PMID:25950944 PMID:26467025 PMID:26599217 PMID:27062609 PMID:27117551 PMID:27457812 PMID:27543892 PMID:27733563 PMID:28019661 PMID:28032718 PMID:28204960 PMID:28492532 PMID:28806589 PMID:29050392 PMID:29100083 PMID:30182498 PMID:30283815 PMID:31170314 PMID:33232902 PMID:33624935 PMID:33802230 More...
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NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
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Kcnc4 |
potassium voltage-gated channel subfamily C member 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 |
ClinVar |
PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 |
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NCBI chr 2:195,063,967...195,100,244
Ensembl chr 2:195,071,769...195,099,233
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Lamtor5 |
late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 |
ClinVar |
PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 |
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NCBI chr 2:194,900,038...194,905,394
Ensembl chr 2:194,900,038...194,905,395
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Prok1 |
prokineticin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 |
ClinVar |
PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 |
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NCBI chr 2:194,850,539...194,859,343
Ensembl chr 2:194,853,991...194,859,250
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Rbm15 |
RNA binding motif protein 15 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 |
ClinVar |
PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 |
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NCBI chr 2:194,945,974...194,954,498
Ensembl chr 2:194,945,974...194,954,703
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Slc16a4 |
solute carrier family 16, member 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 |
ClinVar |
PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 |
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NCBI chr 2:194,911,075...194,933,162
Ensembl chr 2:194,911,236...194,933,117
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Slc6a17 |
solute carrier family 6 member 17 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 |
ClinVar |
PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 |
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NCBI chr 2:195,107,434...195,155,697
Ensembl chr 2:195,107,438...195,155,697
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Ubl4b |
ubiquitin-like 4B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 |
ClinVar |
PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 |
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NCBI chr 2:195,192,490...195,193,820
Ensembl chr 2:195,191,720...195,193,875
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Abhd16b |
abhydrolase domain containing 16B |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,594,677...168,596,574
Ensembl chr 3:168,594,609...168,619,762
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Adrm1 |
ADRM1 26S proteasome ubiquitin receptor |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,265,435...167,270,197
Ensembl chr 3:167,265,296...167,270,195
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Arfgap1 |
ADP-ribosylation factor GTPase activating protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933
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Arfrp1 |
ADP-ribosylation factor related protein 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914
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Bhlhe23 |
basic helix-loop-helix family, member e23 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,889,009...167,891,223
Ensembl chr 3:167,889,009...167,891,223
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Birc7 |
baculoviral IAP repeat-containing 7 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
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Cables2 |
Cdk5 and Abl enzyme substrate 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,347,527...167,362,274
Ensembl chr 3:167,347,461...167,362,279
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Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27779742 PMID:28492532 PMID:30866059 More...
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NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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Col20a1 |
collagen type XX alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309
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Col9a3 |
collagen type IX alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
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Dido1 |
death inducer-obliterator 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
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Dnajc5 |
DnaJ heat shock protein family (Hsp40) member C5 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
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Eef1a2 |
eukaryotic translation elongation factor 1 alpha 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3066688 PMID:9536098 PMID:14534157 PMID:16199547 PMID:17290276 PMID:17576681 PMID:18414213 PMID:19822871 PMID:20805988 PMID:23033978 PMID:23166088 PMID:23360469 PMID:23647072 PMID:23692823 PMID:24697219 PMID:24811917 PMID:25326326 PMID:25326635 PMID:25741868 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26467025 PMID:26633542 PMID:26682508 PMID:26740508 PMID:26758118 PMID:26795593 PMID:27441201 PMID:27652284 PMID:27779742 PMID:28135719 PMID:28378778 PMID:28492532 PMID:28628100 PMID:28911200 PMID:30109124 PMID:30377530 PMID:30866059 PMID:32160274 PMID:32196822 PMID:32429945 PMID:32725632 PMID:33004838 More...
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NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
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Fndc11 |
fibronectin type III domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617
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Gata5 |
GATA binding protein 5 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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Gid8 |
GID complex subunit 8 homolog |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,826,006...167,836,759
Ensembl chr 3:167,826,060...167,834,814
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Gmeb2 |
glucocorticoid modulatory element binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788
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Helz2 |
helicase with zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27779742 PMID:28492532 PMID:30866059 More...
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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Lama5 |
laminin subunit alpha 5 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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Lime1 |
Lck interacting transmembrane adaptor 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,490,535...168,496,627
Ensembl chr 3:168,490,074...168,493,127
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Mir1b |
microRNA 1b |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,487,117...167,487,201
Ensembl chr 3:167,487,117...167,487,201
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Mir3582 |
microRNA 3582 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr18:1,885,063...1,885,180
Ensembl chr18:1,885,063...1,885,180
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Mrgbp |
MRG domain binding protein |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,697,129...167,700,592
Ensembl chr 3:167,697,185...167,700,592
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Nkain4 |
Sodium/potassium transporting ATPase interacting 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,053,294...168,073,944
Ensembl chr 3:168,053,066...168,073,925
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Ntsr1 |
neurotensin receptor 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,606,215...167,656,371
Ensembl chr 3:167,606,215...167,656,377
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Ogfr |
opioid growth factor receptor |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,703,173...167,709,459
Ensembl chr 3:167,702,695...167,709,473
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G |
Osbpl2 |
oxysterol binding protein-like 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,210,945...167,256,219
Ensembl chr 3:167,210,832...167,256,219
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G |
Ppdpf |
pancreatic progenitor cell differentiation and proliferation factor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27779742 PMID:28492532 PMID:30866059 More...
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NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
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G |
Prpf6 |
pre-mRNA processing factor 6 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,706,952...168,771,191
Ensembl chr 3:168,704,299...168,774,991
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G |
Ptk6 |
protein tyrosine kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664
|
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G |
Rbbp8nl |
RBBP8 N-terminal like |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,364,048...167,378,993
Ensembl chr 3:167,364,048...167,379,092
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G |
Rps21-ps1 |
ribosomal protein S21, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 5:153,387,133...153,387,476
Ensembl chr 5:153,387,176...153,387,427
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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G |
Samd10 |
sterile alpha motif domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,700,280...168,704,427
Ensembl chr 3:168,700,284...168,705,248
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G |
Slc17a9 |
solute carrier family 17 member 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,839,246...167,857,462
Ensembl chr 3:167,839,385...167,855,985
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G |
Slc2a4rg |
SLC2A4 regulator |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,493,975...168,497,616
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Slco4a1 |
solute carrier organic anion transporter family, member 4a1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,559,177...167,578,307
Ensembl chr 3:167,559,316...167,578,305
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Sox18 |
SRY-box transcription factor 18 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
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Srms |
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915
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Stmn3 |
stathmin 3 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056
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Tcfl5 |
transcription factor like 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,734,471...167,754,174
Ensembl chr 3:167,734,473...167,754,282
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Tpd52l2 |
TPD52 like 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,598,449...168,618,201
Ensembl chr 3:168,594,609...168,619,762
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Uckl1 |
uridine-cytidine kinase 1-like 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,674,849...168,687,513
Ensembl chr 3:168,674,849...168,698,091
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G |
Ythdf1 |
YTH N6-methyladenosine RNA binding protein F1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172
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G |
Zbtb46 |
zinc finger and BTB domain containing 46 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
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Zfp512b |
zinc finger protein 512B |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,687,520...168,698,067
Ensembl chr 3:168,687,521...168,698,091
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Zgpat |
zinc finger CCCH-type and G-patch domain containing |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,473,836...168,490,380
Ensembl chr 3:168,473,981...168,490,380
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Slc12a5 |
solute carrier family 12 member 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 34 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24668262 PMID:24928908 PMID:25741868 PMID:26333769 PMID:26528127 PMID:27436767 PMID:27535533 PMID:28492532 PMID:30763027 PMID:31104500 PMID:31618474 More...
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NCBI chr 3:153,696,517...153,735,801
Ensembl chr 3:153,696,517...153,735,765
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Itpa |
inosine triphosphatase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 35 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 35 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12384777 PMID:16199547 PMID:20173735 PMID:20547162 PMID:21274861 PMID:22992668 PMID:25741868 PMID:25741905 PMID:26224535 PMID:26438033 PMID:26441325 PMID:26670100 PMID:28492532 PMID:30542205 PMID:30856165 PMID:32129147 PMID:35098521 More...
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NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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G |
Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22492991 PMID:23033978 PMID:23934111 PMID:24476948 PMID:24781210 PMID:24896178 PMID:25732998 PMID:25741868 PMID:26138355 PMID:26467025 PMID:26482601 PMID:27781031 PMID:28397838 PMID:28492532 PMID:28777499 PMID:28778787 PMID:28887793 PMID:28940310 PMID:32238909 PMID:32681751 PMID:33734437 PMID:35899201 More...
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NCBI chr X:107,906,320...107,968,232
Ensembl chr X:107,885,093...107,942,695
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Capn6 |
calpain 6 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 |
ClinVar |
PMID:28492532 |
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NCBI chr X:107,380,774...107,405,489
Ensembl chr X:107,380,774...107,405,489
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G |
Chrdl1 |
chordin-like 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 |
ClinVar |
PMID:28492532 |
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NCBI chr X:106,889,125...106,992,937
Ensembl chr X:106,889,125...106,992,921
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Dcx |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 |
ClinVar |
PMID:28492532 |
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NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Pak3 |
p21 (RAC1) activated kinase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 |
ClinVar |
PMID:28492532 |
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NCBI chr X:107,116,308...107,374,342
Ensembl chr X:107,260,898...107,368,314
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G |
Abitram |
actin binding transcription modulator |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:71,505,848...71,524,224
Ensembl chr 5:71,505,813...71,511,890
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G |
Ctnnal1 |
catenin alpha-like 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:71,514,340...71,569,431
Ensembl chr 5:71,514,340...71,569,431
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G |
Elp1 |
elongator acetyltransferase complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
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G |
Frrs1l |
ferric-chelate reductase 1-like |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:21147040 PMID:22406018 PMID:25741868 PMID:25741916 PMID:27236917 PMID:27239025 PMID:28492532 PMID:28675162 PMID:30525197 PMID:30692144 PMID:32860008 PMID:32928027 More...
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NCBI chr 5:71,655,911...71,690,132
Ensembl chr 5:71,659,284...71,690,108
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Mir32 |
microRNA 32 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:71,596,083...71,596,152
Ensembl chr 5:71,596,083...71,596,152
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G |
Tmem245 |
transmembrane protein 245 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:71,570,952...71,647,915
Ensembl chr 5:71,514,858...71,647,763
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G |
Arv1 |
ARV1 homolog, fatty acid homeostasis modulator |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ARV1-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 38 |
OMIM CTD ClinVar |
PMID:25558065 PMID:25741868 PMID:27270415 PMID:28492532 PMID:32165008 |
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NCBI chr19:52,692,337...52,704,156
Ensembl chr19:52,692,337...52,704,156
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G |
Slc25a12 |
solute carrier family 25 member 12 |
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ISO ISS |
OMIM:612949 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 | ClinVar Annotator: match by term: Hypomyelination, global cerebral |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:19641205 PMID:24515575 PMID:25741868 PMID:28492532 PMID:31403263 More...
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NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 |
ClinVar |
PMID:25741868 |
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Lrsam1 |
leucine rich repeat and sterile alpha motif containing 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
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G |
Mapk8ip3 |
mitogen-activated protein kinase 8 interacting protein 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273
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G |
Niban2 |
niban apoptosis regulator 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:16,174,674...16,224,293
Ensembl chr 3:16,174,659...16,224,293
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G |
Stxbp1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 | ClinVar Annotator: match by term: STXBP1-associated neurodevelopmental disorder CTD Direct Evidence: marker/mechanism DNA:deletion, missense mutations:exon:multiple DNA:deletions, nonsense mutation, splice-site mutations:exon, intron:multiple |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 PMID:19557857 PMID:20876469 PMID:20887364 PMID:21062273 PMID:21193638 PMID:21204804 PMID:21364700 PMID:21762454 PMID:21770924 PMID:22495311 PMID:22612257 PMID:23409955 PMID:23533165 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23858467 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25284778 PMID:25326390 PMID:25326635 PMID:25356970 PMID:25418441 PMID:25473036 PMID:25497044 PMID:25533962 PMID:25693842 PMID:25714420 PMID:25741868 PMID:25741915 PMID:25758715 PMID:25818041 PMID:25951140 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26648591 PMID:26740508 PMID:26795593 PMID:26865513 PMID:26918652 PMID:26993267 PMID:27069701 PMID:27159321 PMID:27171548 PMID:27184330 PMID:27652284 PMID:27779742 PMID:28133863 PMID:28135719 PMID:28191889 PMID:28387369 PMID:28492532 PMID:28628100 PMID:28947817 PMID:29067685 PMID:29186148 PMID:29264391 PMID:29314583 PMID:29389947 PMID:29538625 PMID:29655203 PMID:29758562 PMID:29760947 PMID:29761117 PMID:29896790 PMID:30174244 PMID:30185235 PMID:30266908 PMID:30488659 PMID:30504930 PMID:30540253 PMID:30842647 PMID:31175295 PMID:31221716 PMID:31255830 PMID:31474318 PMID:31780880 PMID:31855252 PMID:32112430 PMID:32238909 PMID:32371413 PMID:32581362 PMID:32643187 PMID:33004838 PMID:33176815 PMID:33196034 PMID:33272087 PMID:34008892 PMID:34906502 PMID:35002760 PMID:35007884 PMID:35190816 PMID:35655584 PMID:18469812 PMID:20876469 More...
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RGD:12903960, RGD:11068998 |
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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Guf1 |
GTP binding elongation factor GUF1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 40 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 40 |
OMIM CTD ClinVar |
PMID:25741868 PMID:26486472 PMID:28492532 PMID:30945278 |
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NCBI chr14:38,537,953...38,557,331
Ensembl chr14:38,537,953...38,557,331
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G |
Slc1a2 |
solute carrier family 1 member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 41 | ClinVar Annotator: match by term: SLC1A2-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:23107647 PMID:23934111 PMID:24214974 PMID:25741868 PMID:27476654 PMID:28492532 PMID:28777935 PMID:30937933 PMID:31164858 PMID:31618753 PMID:34961934 PMID:36543780 More...
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NCBI chr 3:89,005,129...89,135,469
Ensembl chr 3:89,005,129...89,126,498
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8898206 PMID:9329229 PMID:9488686 PMID:9536098 PMID:9915947 PMID:10024348 PMID:10371528 PMID:10408532 PMID:10408533 PMID:10455105 PMID:10987655 PMID:11409427 PMID:11439943 PMID:11814735 PMID:11971066 PMID:12056940 PMID:12420090 PMID:12756131 PMID:14718690 PMID:15136697 PMID:15173248 PMID:15240985 PMID:15452324 PMID:15743764 PMID:15795222 PMID:16043807 PMID:16199547 PMID:16325861 PMID:16508934 PMID:16787562 PMID:17292920 PMID:17576681 PMID:17588611 PMID:18279427 PMID:18313928 PMID:18354422 PMID:18437043 PMID:18513263 PMID:18581134 PMID:18597946 PMID:18606230 PMID:19486177 PMID:19520699 PMID:19811514 PMID:20080591 PMID:20097664 PMID:20129625 PMID:20156848 PMID:20301562 PMID:20301674 PMID:20396531 PMID:20682717 PMID:20837964 PMID:21183743 PMID:21734179 PMID:22000314 PMID:22190617 PMID:22249839 PMID:22784462 PMID:22969264 PMID:23103419 PMID:23183922 PMID:23831250 PMID:23934111 PMID:24033266 PMID:24091540 PMID:24108129 PMID:24270521 PMID:24486772 PMID:24498617 PMID:24996492 PMID:25266619 PMID:25274239 PMID:25326635 PMID:25356970 PMID:25481746 PMID:25596066 PMID:25735478 PMID:25741868 PMID:25758715 PMID:25851414 PMID:26423924 PMID:26467025 PMID:26716990 PMID:26814174 PMID:26912519 PMID:27066515 PMID:27165006 PMID:27250579 PMID:27400454 PMID:27476654 PMID:27959697 PMID:28007337 PMID:28169007 PMID:28252636 PMID:28444220 PMID:28455667 PMID:28492532 PMID:28540055 PMID:28566750 PMID:28742085 PMID:28856914 PMID:29056246 PMID:29100083 PMID:29186148 PMID:29276004 PMID:29486580 PMID:29713557 PMID:29758562 PMID:29852413 PMID:29908077 PMID:29915382 PMID:29926469 PMID:29997391 PMID:30011838 PMID:30063100 PMID:30142438 PMID:30167989 PMID:30283815 PMID:30852237 PMID:31015257 PMID:31115040 PMID:31139143 PMID:31440721 PMID:31447099 PMID:31468518 PMID:31487502 PMID:31506931 PMID:31618753 PMID:31692161 PMID:31719132 PMID:31824404 PMID:32116539 PMID:32170034 PMID:32238909 PMID:32581362 PMID:32860008 PMID:32901917 PMID:32910250 PMID:33098801 PMID:33144682 PMID:33163565 PMID:33278787 PMID:33349592 PMID:33425808 PMID:33790770 PMID:34102571 PMID:34356170 PMID:34531397 PMID:35217970 PMID:35401678 PMID:35600082 PMID:35837781 PMID:36530930 PMID:97053792 More...
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43 |
CTD OMIM ClinVar |
PMID:11742254 PMID:12189488 PMID:18514161 PMID:19935738 PMID:20550555 PMID:23934111 PMID:25726841 PMID:25741868 PMID:25741909 PMID:26467025 PMID:26645412 PMID:26845707 PMID:26950270 PMID:26993267 PMID:27476654 PMID:27622563 PMID:28053010 PMID:28492532 PMID:33287870 PMID:33585817 PMID:34782754 More...
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NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
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Acad11 |
acyl-CoA dehydrogenase family, member 11 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560
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G |
Uba5 |
ubiquitin-like modifier activating enzyme 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 | ClinVar Annotator: match by term: UBA5-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 PMID:29663568 PMID:32371413 PMID:33811063 PMID:33853163 More...
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NCBI chr 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894
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G |
Gabrb1 |
gamma-aminobutyric acid type A receptor subunit beta1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 45 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 45 |
OMIM CTD ClinVar |
PMID:23934111 PMID:25741868 PMID:26950270 PMID:27273810 PMID:28492532 PMID:31618474 More...
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NCBI chr14:36,068,725...36,548,946
Ensembl chr14:36,080,393...36,548,948
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G |
Grin2d |
glutamate ionotropic receptor NMDA type subunit 2D |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 46 | ClinVar Annotator: match by term: GRIN2D-related condition |
OMIM CTD ClinVar |
PMID:15970596 PMID:25741868 PMID:27616483 PMID:28492532 PMID:30280376 PMID:31504254 PMID:32860008 PMID:33057194 More...
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NCBI chr 1:96,306,871...96,346,994
Ensembl chr 1:96,308,365...96,344,793
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G |
Fgf12 |
fibroblast growth factor 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 47 | ClinVar Annotator: match by term: FGF12-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 PMID:28506426 PMID:28554332 PMID:29652076 PMID:29699863 PMID:31292943 PMID:32645220 PMID:34020858 More...
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NCBI chr11:71,997,151...72,564,757
Ensembl chr11:71,997,099...72,562,607
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Ap3b2 |
adaptor related protein complex 3 subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48 |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27431290 PMID:27889060 PMID:28492532 More...
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NCBI chr 1:135,412,580...135,445,191
Ensembl chr 1:135,412,580...135,445,191
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Dennd5a |
DENN domain containing 5A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 49 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16199547 PMID:25741868 PMID:27431290 PMID:27866705 PMID:28492532 |
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NCBI chr 1:163,928,183...163,994,207
Ensembl chr 1:163,928,183...163,994,316
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Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 5 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11911890 PMID:17576681 PMID:18414213 PMID:20228407 PMID:20493457 PMID:22258530 PMID:25224718 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28199897 PMID:28492532 PMID:29050398 PMID:29358611 PMID:29655203 PMID:30548380 PMID:31332438 PMID:31474318 PMID:31515523 PMID:32811770 PMID:32963807 PMID:34590414 PMID:34653234 PMID:35150594 PMID:36331550 More...
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NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 50 |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25678555 PMID:25741868 PMID:28007989 PMID:28492532 PMID:32117025 PMID:32461667 PMID:32820246 PMID:33497533 More...
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NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
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Mdh2 |
malate dehydrogenase 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51 | ClinVar Annotator: match by term: MDH2-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27989324 PMID:28492532 PMID:30008476 PMID:34712577 PMID:34718610 PMID:36420423 More...
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NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271
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Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 |
ClinVar |
PMID:11439943 PMID:18437043 PMID:19344873 PMID:25741868 PMID:28492532 PMID:29165669 PMID:30063100 PMID:32170034 More...
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Scn1b |
sodium voltage-gated channel beta subunit 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 PMID:11263970 PMID:11866477 PMID:12011299 PMID:12486163 PMID:14504340 PMID:14690046 PMID:15710580 PMID:15857929 PMID:16199547 PMID:16205844 PMID:17020904 PMID:17604911 PMID:17629415 PMID:17928445 PMID:18464934 PMID:18941776 PMID:19710327 PMID:19808477 PMID:20437590 PMID:20628201 PMID:21703448 PMID:21994374 PMID:22155597 PMID:22155598 PMID:22284586 PMID:22292491 PMID:22425777 PMID:22840528 PMID:23148524 PMID:23182416 PMID:23414114 PMID:23465283 PMID:23527921 PMID:23584539 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24065921 PMID:24567321 PMID:24605816 PMID:24623842 PMID:24747835 PMID:25253298 PMID:25421039 PMID:25741868 PMID:25741909 PMID:25741913 PMID:25827112 PMID:26467025 PMID:26498160 PMID:27216889 PMID:27277800 PMID:27435932 PMID:27896052 PMID:28218389 PMID:28331474 PMID:28341588 PMID:28492532 PMID:28681755 PMID:28717674 PMID:28837624 PMID:29056246 PMID:29655203 PMID:29758173 PMID:30660056 PMID:31069529 PMID:31709768 PMID:31980526 PMID:32192759 PMID:32369273 PMID:32466254 PMID:32931854 PMID:36288729 More...
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NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
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Synj1 |
synaptojanin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 53 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 53 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:23804563 PMID:23804577 PMID:24609975 PMID:24816432 PMID:25741868 PMID:26046367 PMID:26467025 PMID:27393345 PMID:27435091 PMID:27869329 PMID:28421333 PMID:28492532 PMID:29163333 PMID:32214227 More...
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NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220
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Adss2 |
adenylosuccinate synthase 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
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Ahctf1 |
AT hook containing transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:91,481,936...91,536,391
Ensembl chr13:91,481,936...91,536,391
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Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Catspere |
catsper channel auxiliary subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:89,799,669...89,954,723
Ensembl chr13:89,819,244...89,950,979
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Cep170 |
centrosomal protein 170 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226
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Cnst |
consortin, connexin sorting protein |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:91,296,740...91,373,531
Ensembl chr13:91,296,142...91,373,531
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Cox20 |
cytochrome c oxidase assembly factor COX20 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:90,065,900...90,075,386
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Desi2 |
desumoylating isopeptidase 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:89,961,767...90,011,255
Ensembl chr13:89,961,934...90,016,416
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Efcab2 |
EF-hand calcium binding domain 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:90,152,002...90,237,918
Ensembl chr13:90,152,185...90,238,218
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Exo1 |
exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:87,809,725...87,834,654
Ensembl chr13:87,809,810...87,834,654
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Hnrnpu |
heterogeneous nuclear ribonucleoprotein U |
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ISO ISS |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 54 OMIM:617391 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22678713 PMID:23708187 PMID:23934111 PMID:25356899 PMID:25356970 PMID:25741868 PMID:26467025 PMID:27652284 PMID:28283832 PMID:28492532 PMID:28815871 PMID:28944577 PMID:29170628 PMID:29758562 PMID:30866059 PMID:32319732 PMID:32488064 PMID:33874999 PMID:35138025 PMID:35571021 More...
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NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588
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Kif26b |
kinesin family member 26B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:90,282,821...90,689,058
Ensembl chr13:90,283,404...90,682,811
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Lypd8 |
Ly6/Plaur domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:42,561,834...42,572,684
Ensembl chr10:42,561,816...42,572,683
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Nipbl |
NIPBL, cohesin loading factor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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Nlrp3 |
NLR family, pyrin domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Olr1433 |
olfactory receptor 1433 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:43,042,427...43,046,293
Ensembl chr10:43,037,857...43,046,701
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Or11l3 |
olfactory receptor family 11 subfamily L member 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:43,007,633...43,008,604
Ensembl chr10:43,004,087...43,013,122
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Or13g1 |
olfactory receptor family 13 subfamily G member 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:139,864,790...139,865,713
Ensembl chr 1:139,863,413...139,873,029
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Or14c39b |
olfactory receptor family 14 subfamily C member 39B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:140,329,678...140,330,607
Ensembl chr 1:140,329,678...140,330,607
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Or14p1 |
olfactory receptor family 14 subfamily P member 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr17:47,738...48,685
Ensembl chr17:47,738...48,685
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Or2ak5f |
olfactory receptor family 2 subfamily AK member 5F |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:43,269,046...43,269,960
Ensembl chr10:43,289,142...43,290,062
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Or2b11 |
olfactory receptor family 2 subfamily B member 11 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:44,358,397...44,359,353
Ensembl chr10:44,357,668...44,362,937
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Or2g25 |
olfactory receptor family 2 subfamily G member 25 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr20:810,880...811,833
Ensembl chr20:807,707...815,510
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Or2l13 |
olfactory receptor family 2 subfamily L member 13 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr11:81,400,197...81,401,135
Ensembl chr11:81,399,173...81,404,284
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Or2l5 |
olfactory receptor family 2 subfamily L member 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr11:81,375,886...81,376,824
Ensembl chr11:81,368,820...81,382,532
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Or2m12 |
olfactory receptor family 2 subfamily M member 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr11:81,486,978...81,487,919
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Or2t1 |
olfactory receptor family 2 subfamily T member 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr15:10,960,562...10,961,515
Ensembl chr15:10,954,685...10,966,743
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Or2t26 |
olfactory receptor family 2 subfamily T member 26 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:33,446,540...33,447,493
Ensembl chr10:33,439,638...33,448,773
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Or2t29 |
olfactory receptor family 2 subfamily T member 29 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:42,907,259...42,908,197
Ensembl chr10:42,907,259...42,908,197
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Or2t35 |
olfactory receptor family 2 subfamily T member 35 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr15:10,863,347...10,864,315
Ensembl chr15:10,859,208...10,870,161
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Or2t44 |
olfactory receptor family 2 subfamily T member 44 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:43,503,630...43,504,622
Ensembl chr10:43,499,669...43,507,890
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Or2t44b |
olfactory receptor family 2 subfamily T member 44B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:43,436,818...43,437,807
Ensembl chr10:43,436,818...43,437,807
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Or2t47 |
olfactory receptor family 2 subfamily T member 47 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:42,917,545...42,918,492
Ensembl chr10:42,917,075...42,921,574
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Or2t47d |
olfactory receptor family 2 subfamily T member 47D |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:42,883,114...42,884,076
Ensembl chr10:42,880,571...42,886,921
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Or2t6 |
olfactory receptor family 2 subfamily T member 6 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr15:11,063,192...11,064,139
Ensembl chr15:11,052,916...11,068,695
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Or2y13 |
olfactory receptor family 2 subfamily Y member 13 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:33,788,832...33,789,767
Ensembl chr10:33,784,923...33,791,043
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Or2y1h |
olfactory receptor family 2 subfamily Y member 1H |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:33,609,511...33,610,446
Ensembl chr10:33,604,013...33,612,206
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G |
Or6f1 |
olfactory receptor family 6 subfamily F member 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:139,888,779...139,889,705
Ensembl chr 1:139,887,387...139,902,727
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G |
Pld5 |
phospholipase D family, member 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
|
NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
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G |
Sccpdh |
saccharopine dehydrogenase (putative) |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
|
NCBI chr13:91,400,120...91,421,875
Ensembl chr13:91,400,190...91,422,222
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G |
Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
|
NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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G |
Sh3bp5l |
SH3 binding domain protein 5 like |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:42,512,437...42,529,564
Ensembl chr10:42,512,552...42,530,221
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G |
Smyd3 |
SET and MYND domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:90,709,263...91,266,209
Ensembl chr13:90,709,270...91,266,253
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G |
Spmip3 |
sperm microtubule inner protein 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817
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G |
Tfb2m |
transcription factor B2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:91,278,889...91,296,709
Ensembl chr13:91,278,898...91,296,657
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G |
Trim58 |
tripartite motif-containing 58 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:43,022,933...43,038,984
Ensembl chr10:43,022,996...43,034,476
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G |
Vom1r100 |
vomeronasal 1 receptor 100 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:122,468,150...122,471,495
Ensembl chr 4:122,462,283...122,473,701
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G |
Zbtb18 |
zinc finger and BTB domain containing 18 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862
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G |
Zfp496 |
zinc finger protein 496 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:44,268,923...44,287,795
Ensembl chr10:44,268,928...44,287,651
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G |
Zfp672 |
zinc finger protein 672 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:42,496,558...42,512,134
Ensembl chr10:42,495,476...42,504,852
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G |
Zfp692 |
zinc finger protein 692 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr10:42,484,576...42,496,573
Ensembl chr10:42,488,588...42,496,018
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G |
Zfp870 |
zinc finger protein 870 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:11,990,146...12,003,813
Ensembl chr 7:11,990,148...12,003,813
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G |
Pigp |
phosphatidylinositol glycan anchor biosynthesis, class P |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 55 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55 |
OMIM ClinVar |
PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915 |
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NCBI chr11:33,682,943...33,689,111
Ensembl chr11:33,682,948...33,689,321
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G |
Ywhag |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 56 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 |
OMIM ClinVar |
PMID:23934111 PMID:25741868 PMID:28492532 PMID:28777935 PMID:31926053 PMID:33590706 PMID:33619735 PMID:33767733 PMID:34294877 PMID:34413451 PMID:36243722 More...
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NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827
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G |
Kcnt2 |
potassium sodium-activated channel subfamily T member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 57 |
OMIM ClinVar |
PMID:24166878 PMID:25741868 PMID:26724206 PMID:29069600 PMID:29314763 PMID:29740868 PMID:32038177 PMID:32773162 More...
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NCBI chr13:51,664,129...52,059,209
Ensembl chr13:51,664,686...52,056,987
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G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29100083 |
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NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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G |
Gabbr2 |
gamma-aminobutyric acid type B receptor subunit 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 59 |
ClinVar OMIM |
PMID:25262651 PMID:25741868 PMID:28492532 PMID:28856709 PMID:29100083 PMID:29369404 PMID:32860008 PMID:34008892 More...
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NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104
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G |
Cnpy3 |
canopy FGF signaling regulator 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 60 |
OMIM ClinVar |
PMID:25741868 PMID:25741895 PMID:29394991 |
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NCBI chr 9:14,233,478...14,247,847
Ensembl chr 9:14,233,428...14,247,831
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G |
Adam22 |
ADAM metallopeptidase domain 22 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 61 |
OMIM ClinVar |
PMID:25741868 PMID:27066583 PMID:28492532 PMID:30237576 |
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NCBI chr 4:25,716,055...25,970,932
Ensembl chr 4:25,715,990...25,964,962
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 62 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 62 | ClinVar Annotator: match by term: SCN3A-related neurodevelopmental disorder |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28235671 PMID:28492532 PMID:29466837 PMID:29740860 PMID:30146301 PMID:30542205 PMID:30904718 PMID:32515017 PMID:34081427 More...
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NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Cplx1 |
complexin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 63 |
OMIM ClinVar |
PMID:25741868 PMID:26539891 PMID:28422131 PMID:28492532 |
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NCBI chr14:1,184,677...1,216,392
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G |
Rhobtb2 |
Rho-related BTB domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64 | ClinVar Annotator: match by term: RHOBTB2-related condition |
OMIM ClinVar |
PMID:18298893 PMID:18835386 PMID:25741868 PMID:25741916 PMID:26740508 PMID:28492532 PMID:28518168 PMID:28856709 PMID:29276004 PMID:29768694 PMID:31780880 PMID:32337345 PMID:32461654 PMID:32581362 PMID:33504645 PMID:33619735 More...
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NCBI chr15:44,868,251...44,888,436
Ensembl chr15:44,870,376...44,888,651
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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G |
Cyfip2 |
cytoplasmic FMR1 interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 65 |
OMIM ClinVar |
PMID:21107423 PMID:25741868 PMID:25741869 PMID:25741870 PMID:26582918 PMID:28492532 PMID:29534297 PMID:29667327 PMID:30664714 PMID:33149277 More...
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NCBI chr10:30,621,318...30,741,113
Ensembl chr10:30,621,318...30,741,113
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G |
Brf1 |
BRF1, RNA polymerase III transcription initiation factor subunit |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32725632 |
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NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
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G |
Pacs2 |
phosphofurin acidic cluster sorting protein 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 | ClinVar Annotator: match by term: PACS2-related condition |
OMIM ClinVar |
PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:25741916 PMID:26626314 PMID:28135719 PMID:28191890 PMID:28492532 PMID:28628100 PMID:28867141 PMID:29656858 PMID:30290155 PMID:30904718 PMID:31036916 PMID:31231135 PMID:32416568 PMID:32725632 PMID:33243487 PMID:34782754 More...
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NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583
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G |
Cux2 |
cut-like homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 |
OMIM ClinVar |
PMID:20404132 PMID:23020937 PMID:25741868 PMID:28492532 PMID:28628100 PMID:29630738 PMID:29795476 More...
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NCBI chr12:34,507,723...34,707,581
Ensembl chr12:34,520,959...34,705,806
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G |
Sh2b3 |
SH2B adaptor protein 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 |
ClinVar |
PMID:20404132 PMID:25741868 |
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NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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G |
Trak1 |
trafficking kinesin protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 68 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 |
OMIM ClinVar |
PMID:25741868 PMID:28364549 PMID:28492532 PMID:28940097 PMID:29846532 |
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NCBI chr 8:120,984,445...121,139,357
Ensembl chr 8:120,984,431...121,139,367
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G |
Cacna1e |
calcium voltage-gated channel subunit alpha1 E |
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ISO |
ClinVar Annotator: match by term: CACNA1E-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 69 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 |
OMIM ClinVar |
PMID:16199547 PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 PMID:30343943 PMID:32695065 PMID:33776624 PMID:34702355 PMID:34906502 PMID:35937981 More...
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NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO ISS |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 7 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7 | ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy OMIM:613720 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2847176 PMID:3360469 PMID:9425895 PMID:9430594 PMID:9536098 PMID:9872318 PMID:11572947 PMID:11690625 PMID:12742592 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14985406 PMID:15030501 PMID:15249611 PMID:16039833 PMID:16199547 PMID:16260777 PMID:16691402 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17435769 PMID:17475800 PMID:17576681 PMID:17872363 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19453707 PMID:20119593 PMID:20437616 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23291709 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24586341 PMID:24759409 PMID:24848745 PMID:25052858 PMID:25092550 PMID:25262651 PMID:25326635 PMID:25326637 PMID:25473036 PMID:25566516 PMID:25590979 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25959266 PMID:25960349 PMID:25982755 PMID:26007637 PMID:26070303 PMID:26138355 PMID:26446091 PMID:26467025 PMID:26544041 PMID:26594844 PMID:26704558 PMID:26993267 PMID:27334371 PMID:27479843 PMID:27535030 PMID:27602407 PMID:27734276 PMID:27779742 PMID:27781029 PMID:27861786 PMID:27864847 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28492532 PMID:28503627 PMID:28602030 PMID:28628100 PMID:28631195 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29190809 PMID:29263209 PMID:29314763 PMID:29383681 PMID:29390993 PMID:29455050 PMID:29588952 PMID:29644095 PMID:29655203 PMID:29726930 PMID:29760947 PMID:29852413 PMID:30109124 PMID:30174244 PMID:30182498 PMID:30185235 PMID:30440138 PMID:30478917 PMID:30515704 PMID:30552426 PMID:30776697 PMID:31069529 PMID:31105003 PMID:31152295 PMID:31164858 PMID:31199083 PMID:31418850 PMID:31440733 PMID:31512412 PMID:31552204 PMID:31564432 PMID:31780880 PMID:31832524 PMID:32139178 PMID:32179837 PMID:32184343 PMID:32362866 PMID:32488064 PMID:32573669 PMID:32581362 PMID:32585800 PMID:32712949 PMID:32770121 PMID:32860008 PMID:32917465 PMID:32942014 PMID:33333793 PMID:33659638 PMID:33754465 PMID:33860439 PMID:34055682 PMID:34120799 PMID:34354098 PMID:34395220 PMID:34711204 PMID:35104249 PMID:35377796 PMID:35468861 PMID:35557555 PMID:35770094 PMID:35906921 PMID:36849527 More...
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Phactr1 |
phosphatase and actin regulator 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 |
OMIM ClinVar |
PMID:23033978 PMID:25741868 PMID:30256902 PMID:33463715 |
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NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
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G |
Tbc1d7 |
TBC1 domain family, member 7 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 |
ClinVar |
PMID:23033978 PMID:25741868 PMID:30256902 PMID:33463715 |
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NCBI chr17:21,530,709...21,548,556
Ensembl chr17:21,531,016...21,548,553
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G |
Gls |
glutaminase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 |
OMIM ClinVar |
PMID:25741868 PMID:30575854 |
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NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
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G |
Neurod2 |
neuronal differentiation 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 72 |
OMIM ClinVar |
PMID:25741868 PMID:30323019 |
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NCBI chr10:83,323,801...83,327,986
Ensembl chr10:83,324,442...83,327,986
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G |
Rnf13 |
ring finger protein 13 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 73 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30595371 |
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NCBI chr 2:141,927,887...142,061,801
Ensembl chr 2:141,927,909...142,061,801
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G |
Gabrg2 |
gamma-aminobutyric acid type A receptor subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 74 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74 |
OMIM ClinVar |
PMID:22539854 PMID:22750526 PMID:23708187 PMID:24407264 PMID:25726841 PMID:25730860 PMID:25741868 PMID:26467025 PMID:27730413 PMID:27864268 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 PMID:29778030 PMID:31216405 PMID:31785789 PMID:32371413 More...
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NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346
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G |
Pars2 |
prolyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 75 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 |
OMIM ClinVar |
PMID:22237560 PMID:25629079 PMID:25705216 PMID:25741868 PMID:25741915 PMID:27290639 PMID:27348859 PMID:28077841 PMID:28492532 PMID:29410512 PMID:29915213 PMID:30237576 PMID:31130284 PMID:31487502 PMID:32071833 PMID:32514400 PMID:32533790 More...
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NCBI chr 5:121,433,993...121,439,158
Ensembl chr 5:121,434,096...121,439,154
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G |
Actl6b |
actin-like 6B |
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ISO |
ClinVar Annotator: match by term: ACTL6B-related BAFopathy | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 76 |
OMIM ClinVar |
PMID:25741868 PMID:25741905 PMID:25741914 PMID:26539891 PMID:28492532 PMID:30237576 PMID:30656450 PMID:31031012 PMID:34008892 More...
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NCBI chr12:19,124,887...19,141,419
Ensembl chr12:19,124,916...19,141,376
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, EPILEPTIC ENCEPHALOPATHY, CEREBRAL ATROPHY, AND ABNORMAL MYELINATION |
ClinVar |
PMID:12566275 PMID:16199547 PMID:17347258 PMID:18930999 PMID:20522430 PMID:22071555 PMID:22409937 PMID:23934111 PMID:25741868 PMID:28148630 PMID:28492532 PMID:29190809 PMID:32581362 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Gabra2 |
gamma-aminobutyric acid type A receptor subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78 | ClinVar Annotator: match by term: GABRA2-related condition |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:29422393 PMID:29758562 PMID:29961870 PMID:31032849 More...
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NCBI chr14:37,097,251...37,230,030
Ensembl chr14:37,097,279...37,228,944
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G |
Gabra5 |
gamma-aminobutyric acid type A receptor subunit alpha 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 79 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29961870 PMID:31056671 PMID:31513310 |
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NCBI chr 1:108,268,728...108,381,670
Ensembl chr 1:108,268,776...108,380,917
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G |
Amer1 |
APC membrane recruitment protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440
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G |
Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:15215304 PMID:16199547 PMID:16616186 PMID:17576681 PMID:17893116 PMID:18414213 PMID:18615734 PMID:21633362 PMID:21731583 PMID:22612257 PMID:23033978 PMID:25568878 PMID:25678704 PMID:25741868 PMID:26467025 PMID:26834553 PMID:27238888 PMID:28492532 PMID:28589176 PMID:28620718 PMID:28708303 PMID:29130122 PMID:30914922 PMID:31054490 PMID:31069529 PMID:32005694 PMID:32593896 PMID:32860008 PMID:32939676 PMID:33504798 PMID:33860439 PMID:35638461 More...
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NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513
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G |
Asb12 |
ankyrin repeat and SOCS box-containing 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr X:60,328,325...60,478,031
Ensembl chr X:60,328,328...60,415,619
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G |
Zc4h2 |
zinc finger C4H2-type containing |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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G |
Ccpg1 |
cell cycle progression 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31256876 |
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NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430
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G |
Pigb |
phosphatidylinositol glycan anchor biosynthesis, class B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 20 |
OMIM ClinVar |
PMID:16199547 PMID:17343268 PMID:25326635 PMID:25741868 PMID:28492532 PMID:31256876 PMID:32123317 PMID:34400385 More...
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NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679
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G |
Dmxl2 |
Dmx-like 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30237576 PMID:31688942 More...
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NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161
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G |
Got2 |
glutamic-oxaloacetic transaminase 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 82 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31422819 |
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NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
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G |
Depdc5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
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G |
Ugp2 |
UDP-glucose pyrophosphorylase 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31820119 |
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NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830
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G |
Ugdh |
UDP-glucose 6-dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 84 |
OMIM ClinVar |
PMID:25741868 PMID:32001716 PMID:32860008 |
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NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
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Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 85, with or without midline brain defects | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS |
OMIM ClinVar |
PMID:17273969 PMID:19701948 PMID:25741868 PMID:25741916 PMID:26358754 PMID:26386245 PMID:26752331 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:30158690 PMID:31334757 More...
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NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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Dalrd3 |
DALR anticodon binding domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 86 |
OMIM ClinVar |
PMID:25741868 PMID:32427860 |
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NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568
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Amd1 |
adenosylmethionine decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 87 |
ClinVar |
PMID:25741868 PMID:32330417 PMID:33134521 PMID:33495529 PMID:33568421 |
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NCBI chr20:43,695,783...43,711,476
Ensembl chr20:43,697,237...43,711,476
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Cdk19 |
cyclin-dependent kinase 19 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 87 |
OMIM ClinVar |
PMID:25741868 PMID:32330417 PMID:33134521 PMID:33495529 PMID:33568421 |
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NCBI chr20:43,770,409...43,910,629
Ensembl chr20:43,770,409...43,910,628
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Mdh1 |
malate dehydrogenase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 88 |
ClinVar OMIM |
PMID:31538237 |
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NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925
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Wdpcp |
WD repeat containing planar cell polarity effector |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 88 |
ClinVar |
PMID:31538237 |
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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Gad1 |
glutamate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 89 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32282878 PMID:32705143 PMID:33146701 |
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NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
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Fgf13 |
fibroblast growth factor 13 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 90 |
OMIM ClinVar |
PMID:25741868 PMID:33245860 PMID:34871784 |
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NCBI chr X:137,276,498...137,800,056
Ensembl chr X:137,276,511...137,800,391
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Brat1 |
BRCA1-associated ATM activator 1 |
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ISO |
ClinVar Annotator: match by term: Dravet syndrome |
ClinVar |
PMID:22279524 PMID:25500575 PMID:25741868 PMID:28492532 PMID:29390993 |
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NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
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Cgn |
cingulin |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,308,389...182,335,747
Ensembl chr 2:182,308,714...182,334,645
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Gabrg2 |
gamma-aminobutyric acid type A receptor subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
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NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346
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Lysmd1 |
LysM domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,704,921...182,714,466
Ensembl chr 2:182,704,916...182,710,412
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Pi4kb |
phosphatidylinositol 4-kinase beta |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,540,377...182,572,684
Ensembl chr 2:182,540,567...182,588,488
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Pip5k1a |
phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,628,299...182,671,584
Ensembl chr 2:182,628,300...182,671,598
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Pogz |
pogo transposable element derived with ZNF domain |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
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Psmb4 |
proteasome 20S subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
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Psmd4 |
proteasome 26S subunit ubiquitin receptor, non-ATPase 4 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,598,934...182,608,250
Ensembl chr 2:182,598,934...182,608,194
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Rfx5 |
regulatory factor X5 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717
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Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO ISS |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy 6 | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy OMIM:607208 |
OMIM ClinVar MouseDO |
PMID:1893009 PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15263074 PMID:15277629 PMID:15508916 PMID:16199547 PMID:16210358 PMID:16458823 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17000989 PMID:17054684 PMID:17054685 PMID:17166794 PMID:17347258 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17903680 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18566737 PMID:18680191 PMID:18755274 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19350499 PMID:19359143 PMID:19522081 PMID:19563349 PMID:19563458 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19782004 PMID:19809937 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20301494 PMID:20431604 PMID:20452746 PMID:20491869 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21425109 PMID:21555645 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21753172 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:22944210 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23773995 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:24066114 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24328833 PMID:24412860 PMID:24502503 PMID:24656210 PMID:24679980 PMID:24776920 PMID:25206388 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25525159 PMID:25590135 PMID:25669891 PMID:25741868 PMID:25741869 PMID:25741909 PMID:25754450 PMID:25818041 PMID:25885068 PMID:25986186 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26394714 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27652284 PMID:27781031 PMID:27864847 PMID:27959697 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28186331 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28544625 PMID:28554332 PMID:28664031 PMID:28708303 PMID:28794249 PMID:28837158 PMID:28864458 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29142202 PMID:29186148 PMID:29190809 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29745119 PMID:29760947 PMID:29852413 PMID:29930392 PMID:29933521 PMID:29948376 PMID:29981888 PMID:30034362 PMID:30142967 PMID:30146492 PMID:30182498 PMID:30185235 PMID:30311386 PMID:30321769 PMID:30368457 PMID:30525188 PMID:30526861 PMID:30577886 PMID:30619928 PMID:30659983 PMID:30735520 PMID:30868114 PMID:30921204 PMID:30945278 PMID:31001185 PMID:31009440 PMID:31019026 PMID:31031587 PMID:31069529 PMID:31102827 PMID:31139143 PMID:31164858 PMID:31439038 PMID:31487502 PMID:31618474 PMID:31755124 PMID:31765958 PMID:31780880 PMID:31791873 PMID:31864146 PMID:31875159 PMID:32056211 PMID:32090326 PMID:32238909 PMID:32461654 PMID:32488064 PMID:32538476 PMID:32573669 PMID:32581362 PMID:32593896 PMID:32613771 PMID:32702657 PMID:32845893 PMID:33067208 PMID:33084218 PMID:33278787 PMID:33411788 PMID:33674996 PMID:34015165 PMID:34107977 PMID:34163418 PMID:34268891 PMID:34338318 PMID:34379890 PMID:34489640 PMID:34539730 PMID:35074891 PMID:35087721 PMID:35571373 PMID:35627257 PMID:35663268 PMID:35886038 PMID:36158059 PMID:36229510 PMID:36684540 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Scn1b |
sodium voltage-gated channel beta subunit 1 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
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Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 PMID:25250524 PMID:25741868 PMID:25993546 PMID:26264438 PMID:26467025 PMID:26675522 PMID:26920677 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 PMID:29911575 PMID:30316835 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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Selenbp1 |
selenium binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,494,004...182,504,594
Ensembl chr 2:182,493,978...182,504,594
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Snx27 |
sorting nexin 27 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894286 PMID:28492532 PMID:31957018 More...
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NCBI chr 2:182,135,904...182,218,906
Ensembl chr 2:182,135,905...182,218,906
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Tmod4 |
tropomodulin 4 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,695,709...182,700,540
Ensembl chr 2:182,695,709...182,700,540
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Tnfaip8l2 |
TNF alpha induced protein 8 like 2 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,710,433...182,726,724
Ensembl chr 2:182,709,378...182,726,760
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Tuft1 |
tuftelin 1 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192
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Vps72 |
vacuolar protein sorting 72 homolog |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,678,594...182,690,185
Ensembl chr 2:182,678,609...182,690,182
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Zfp687 |
zinc finger protein 687 |
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ISO |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647
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Abhd16b |
abhydrolase domain containing 16B |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,594,677...168,596,574
Ensembl chr 3:168,594,609...168,619,762
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Adgrg1 |
adhesion G protein-coupled receptor G1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
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Adgrg3 |
adhesion G protein-coupled receptor G3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,972,425...10,001,118
Ensembl chr19:9,972,430...10,001,123
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Adgrg5 |
adhesion G protein-coupled receptor G5 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,074,787...10,098,640
Ensembl chr19:10,079,375...10,097,214
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G |
Adrm1 |
ADRM1 26S proteasome ubiquitin receptor |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,265,435...167,270,197
Ensembl chr 3:167,265,296...167,270,195
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G |
Ak1 |
adenylate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
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G |
Akr1a1 |
aldo-keto reductase family 1 member A1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,092,945...130,130,277
Ensembl chr 5:130,092,732...130,113,674
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G |
Amfr |
autocrine motility factor receptor |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247
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Amigo3 |
adhesion molecule with Ig like domain 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555
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G |
Angptl2 |
angiopoietin-like 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,517,185...16,547,024
Ensembl chr 3:16,517,420...16,548,178
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G |
Ano9 |
anoctamin 9 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,208,863...196,230,381
Ensembl chr 1:196,197,341...196,229,900
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G |
Ap2a2 |
adaptor related protein complex 2 subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,652,315...196,725,609
Ensembl chr 1:196,652,337...196,725,603
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G |
Apeh |
acylaminoacyl-peptide hydrolase |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr 8:108,773,791...108,782,903
Ensembl chr 8:108,773,794...108,782,933
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G |
Arfgap1 |
ADP-ribosylation factor GTPase activating protein 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933
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G |
Arfrp1 |
ADP-ribosylation factor related protein 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914
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G |
Arhgef15 |
Rho guanine nucleotide exchange factor 15 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:25741868 PMID:28492532 More...
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NCBI chr10:53,650,521...53,663,269
Ensembl chr10:53,650,553...53,663,913
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G |
Arl2bp |
ADP-ribosylation factor like GTPase 2 binding protein |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
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G |
Armh1 |
armadillo-like helical domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,680,955...130,722,062
Ensembl chr 5:130,682,485...130,722,062
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G |
Art1 |
ADP-ribosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,478,096...156,487,172
Ensembl chr 1:156,482,621...156,487,172
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G |
Art5 |
ADP-ribosyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,473,362...156,483,324
Ensembl chr 1:156,473,362...156,483,324
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G |
Artn |
artemin |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 |
|
NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
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G |
Arx |
aristaless related homeobox |
|
ISS |
OMIM:300088 | OMIM:300607 | OMIM:300672 | OMIM:308350 | OMIM:609304 | OMIM:612164 | OMIM:613402 | OMIM:613477 | OMIM:613720 | OMIM:613721 | OMIM:613722 | OMIM:614558 | OMIM:614959 | OMIM:615006 | OMIM:615338 | OMIM:615473 | OMIM:615476 |
MouseDO |
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|
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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G |
Ascl2 |
achaete-scute family bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,148,999...198,151,406
Ensembl chr 1:198,148,999...198,151,406
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G |
Atp6v0b |
ATPase H+ transporting V0 subunit B |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 |
|
NCBI chr 5:131,423,384...131,424,900
Ensembl chr 5:131,423,387...131,426,401
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G |
B4galnt4 |
beta-1,4-N-acetyl-galactosaminyl transferase 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,171,394...196,182,294
Ensembl chr 1:196,171,394...196,182,294
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G |
B4galt2 |
beta-1,4-galactosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 |
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NCBI chr 5:131,412,541...131,422,573
Ensembl chr 5:131,412,541...131,421,013
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G |
Bbln |
bublin coiled coil protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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NCBI chr 3:15,674,577...15,677,322
Ensembl chr 3:15,674,580...15,677,374
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G |
Bbs2 |
Bardet-Biedl syndrome 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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G |
Best4 |
bestrophin 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,622,194...130,629,045
Ensembl chr 5:130,623,438...130,627,099
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G |
Bhlhe23 |
basic helix-loop-helix family, member e23 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,889,009...167,891,223
Ensembl chr 3:167,889,009...167,891,223
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G |
Birc7 |
baculoviral IAP repeat-containing 7 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
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G |
Brsk2 |
BR serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,035,505...197,088,624
Ensembl chr 1:197,035,633...197,088,092
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G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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G |
Bsn |
bassoon (presynaptic cytomatrix protein) |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,784,849...108,875,819
Ensembl chr 8:108,788,542...108,875,819
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|
G |
Btbd19 |
BTB domain containing 19 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,596,966...130,605,403
Ensembl chr 5:130,597,684...130,604,335
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G |
C8h3orf18 |
similar to human chromosome 3 open reading frame 18 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,012,638...108,022,050
Ensembl chr 8:108,012,638...108,022,461
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|
G |
Cables2 |
Cdk5 and Abl enzyme substrate 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,347,527...167,362,274
Ensembl chr 3:167,347,461...167,362,279
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G |
Cacna1e |
calcium voltage-gated channel subunit alpha1 E |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:17660294 PMID:23934111 PMID:25741868 PMID:26680202 PMID:28135719 PMID:28492532 PMID:30343943 PMID:31785789 PMID:32695065 PMID:33776624 PMID:35937981 More...
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NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
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G |
Cacna2d2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 PMID:31785789 PMID:33798445 More...
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|
NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
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G |
Camkv |
CaM kinase-like vesicle-associated |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169
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G |
Cars1 |
cysteinyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,753,689...198,796,016
Ensembl chr 1:198,753,691...198,795,941
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G |
Ccdc102a |
coiled-coil domain containing 102A |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,102,543...10,118,657
Ensembl chr19:10,103,361...10,118,657
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G |
Ccdc113 |
coiled-coil domain containing 113 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:9,497,000...9,516,917
Ensembl chr19:9,496,886...9,516,923
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G |
Ccdc17 |
coiled-coil domain containing 17 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,051,158...130,056,676
Ensembl chr 5:130,045,938...130,056,673
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G |
Ccdc24 |
coiled-coil domain containing 24 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 |
|
NCBI chr 5:131,398,766...131,412,395
Ensembl chr 5:131,408,143...131,412,029
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|
G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl22 |
C-C motif chemokine ligand 22 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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G |
Cd151 |
CD151 molecule (Raph blood group) |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753
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G |
Cd81 |
Cd81 molecule |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
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|
G |
Cdhr4 |
cadherin-related family member 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,682,594...108,690,358
Ensembl chr 8:108,682,613...108,690,367
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|
G |
Cdhr5 |
cadherin-related family member 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543
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|
G |
Cdk9 |
cyclin-dependent kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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|
NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
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G |
Cdkn1c |
cyclin-dependent kinase inhibitor 1C |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
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G |
Cend1 |
cell cycle exit and neuronal differentiation 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302
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|
G |
Cercam |
cerebral endothelial cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 |
|
NCBI chr 3:13,118,150...13,155,960
Ensembl chr 3:13,142,107...13,155,956
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G |
Cfap157 |
cilia and flagella associated protein 157 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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|
NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:16,066,521...16,073,495
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G |
Cfap20 |
cilia and flagella associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:9,608,867...9,622,558
Ensembl chr19:9,608,859...9,622,558
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|
G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
|
|
NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
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G |
Chid1 |
chitinase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,594,357...196,629,700
Ensembl chr 1:196,587,509...196,629,606
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G |
Chrna10 |
cholinergic receptor nicotinic alpha 10 subunit |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,487,279...156,494,277
Ensembl chr 1:156,487,279...156,491,476
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|
G |
Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9425895 PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27054081 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 PMID:31418850 More...
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|
NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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|
G |
Ciapin1 |
cytokine induced apoptosis inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,179,963...10,195,511
Ensembl chr19:10,180,100...10,195,503
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|
G |
Cish |
cytokine inducible SH2-containing protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:107,972,306...107,977,254
Ensembl chr 8:107,972,306...107,977,250
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G |
Ciz1 |
CDKN1A interacting zinc finger protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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|
NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762
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|
G |
Cngb1 |
cyclic nucleotide gated channel subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173
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G |
Cnot1 |
CCR4-NOT transcription complex, subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574
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|
G |
Col20a1 |
collagen type XX alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309
|
|
G |
Col9a3 |
collagen type IX alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
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|
G |
Coq4 |
coenzyme Q4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 |
|
NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799
|
|
G |
Coq9 |
coenzyme Q9 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
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|
G |
Cpne2 |
copine 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,434,277...10,472,146
Ensembl chr19:10,434,277...10,471,820
|
|
G |
Cracr2b |
calcium release activated channel regulator 2B |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,558,407...196,563,961
Ensembl chr 1:196,558,588...196,563,771
|
|
G |
Csnk2a2 |
casein kinase 2 alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080
|
|
G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25995458 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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|
NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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|
G |
Ctsd |
cathepsin D |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
|
|
G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
|
|
G |
Cyb561d2 |
cytochrome b561 family, member D2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 PMID:31785789 More...
|
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NCBI chr 8:108,213,201...108,215,778
Ensembl chr 8:108,213,205...108,215,759
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G |
Dag1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Deaf1 |
DEAF1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
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G |
Dido1 |
death inducer-obliterator 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
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G |
Dmap1 |
DNA methyltransferase 1-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:131,143,726...131,151,760
Ensembl chr 5:131,143,729...131,151,742
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G |
Dnajc5 |
DnaJ heat shock protein family (Hsp40) member C5 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
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G |
Dnm1 |
dynamin 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
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G |
Dok4 |
docking protein 4 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,146,520...10,157,187
Ensembl chr19:10,146,474...10,158,203
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G |
Dph2 |
diphthamide biosynthesis 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 |
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NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
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G |
Dpm2 |
dolichyl-phosphate mannosyltransferase subunit 2, regulatory |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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NCBI chr 3:15,855,952...15,858,867
Ensembl chr 3:15,856,182...15,869,165 Ensembl chr 3:15,856,182...15,869,165
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G |
Drc7 |
dynein regulatory complex subunit 7 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,943,452...9,961,266
Ensembl chr19:9,943,456...9,961,163
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G |
Drd4 |
dopamine receptor D4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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G |
Dusp8 |
dual specificity phosphatase 8 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:197,167,392...197,184,285
Ensembl chr 1:197,169,422...197,182,921
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G |
Dync2i2 |
dynein 2 intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:22722545 PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 PMID:31332438 PMID:33206935 PMID:33578420 More...
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NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121
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G |
Dynlt4 |
dynein light chain Tctex-type 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,605,437...130,607,224
Ensembl chr 5:130,605,399...130,607,666
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G |
Eef1a2 |
eukaryotic translation elongation factor 1 alpha 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27441201 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
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G |
Eeig1 |
estrogen-induced osteoclastogenesis regulator 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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NCBI chr 3:15,822,441...15,854,651
Ensembl chr 3:15,823,144...15,854,643
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G |
Eif2b3 |
eukaryotic translation initiation factor 2B subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:130,492,220...130,563,332
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G |
Eng |
endoglin |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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G |
Eps8l2 |
EPS8-like 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541
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G |
Eri3 |
ERI1 exoribonuclease family member 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:131,016,146...131,143,347
Ensembl chr 5:131,016,126...131,143,329
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G |
Fgf10 |
fibroblast growth factor 10 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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G |
Fndc11 |
fibronectin type III domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617
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G |
Fpgs |
folylpolyglutamate synthase |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
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G |
Gabra2 |
gamma-aminobutyric acid type A receptor subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:29422393 |
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NCBI chr14:37,097,251...37,230,030
Ensembl chr14:37,097,279...37,228,944
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25995458 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Garnl3 |
GTPase activating Rap/RanGAP domain-like 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,288,718...16,432,308
Ensembl chr 3:16,288,719...16,430,837
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G |
Gata5 |
GATA binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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G |
Gatd1 |
glutamine amidotransferase class 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551
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G |
Gid8 |
GID complex subunit 8 homolog |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,826,006...167,836,759
Ensembl chr 3:167,826,060...167,834,814
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G |
Gins3 |
GINS complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,420,085...9,428,621
Ensembl chr19:9,420,086...9,428,687
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G |
Gle1 |
GLE1 RNA export mediator |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 |
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NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
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G |
Gmeb2 |
glucocorticoid modulatory element binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788
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G |
Gmppb |
GDP-mannose pyrophosphorylase B |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286
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G |
Gnai2 |
G protein subunit alpha i2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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G |
Gnao1 |
G protein subunit alpha o1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy |
ClinVar |
PMID:8521505 PMID:9108480 PMID:9536098 PMID:10419452 PMID:10615050 PMID:11285252 PMID:16199547 PMID:17576681 PMID:18434540 PMID:20177705 PMID:20668451 PMID:23993195 PMID:24608809 PMID:24982418 PMID:25356970 PMID:25363768 PMID:25533962 PMID:25590979 PMID:25640679 PMID:25741868 PMID:25944380 PMID:25966631 PMID:26060304 PMID:26467025 PMID:26485252 PMID:26518167 PMID:26595808 PMID:26633542 PMID:26795593 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:27916449 PMID:28135719 PMID:28191890 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28628939 PMID:28668776 PMID:28688840 PMID:28714951 PMID:28747448 PMID:28817111 PMID:29389947 PMID:29390993 PMID:29761117 PMID:29935962 PMID:30642806 PMID:30682224 PMID:30866059 PMID:31130284 PMID:31394400 PMID:31406558 PMID:31737037 PMID:31780880 PMID:32581362 PMID:32898863 PMID:33298085 PMID:34122306 PMID:35509770 PMID:35722775 PMID:35782616 More...
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NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
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G |
Gnat1 |
G protein subunit alpha transducin 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
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G |
Golga2 |
golgin A2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 |
|
NCBI chr 3:15,583,862...15,604,279
Ensembl chr 3:15,584,039...15,604,279
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G |
Got2 |
glutamic-oxaloacetic transaminase 2 |
|
ISO ISS |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar MouseDO |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:25741868 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 PMID:31422819 More...
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NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
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G |
Gpbp1l1 |
GC-rich promoter binding protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,009,768...130,050,636
Ensembl chr 5:130,023,137...130,050,459
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G |
H19 |
H19 imprinted maternally expressed transcript |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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G |
Hcn1 |
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:17931874 PMID:20437590 PMID:22131395 PMID:24747641 PMID:25640679 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 PMID:27541642 PMID:28166811 PMID:28488083 PMID:28492532 PMID:29056246 PMID:29186148 PMID:29933521 PMID:30351409 PMID:30776697 PMID:30986657 PMID:31069529 PMID:34055682 PMID:34621433 PMID:34712263 PMID:35845605 More...
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|
NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774
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G |
Hectd3 |
HECT domain E3 ubiquitin protein ligase 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,469,840...130,479,802
Ensembl chr 5:130,469,840...130,478,561
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G |
Helz2 |
helicase with zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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|
NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159
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G |
Hemk1 |
HemK methyltransferase family member 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:107,999,658...108,010,732
Ensembl chr 8:107,999,644...108,010,256
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G |
Herpud1 |
homocysteine inducible ER protein with ubiquitin like domain 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,598,411...10,609,002
Ensembl chr19:10,598,417...10,618,424
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G |
Hpdl |
4-hydroxyphenylpyruvate dioxygenase-like |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233
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G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Hyal1 |
hyaluronidase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210
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G |
Hyal2 |
hyaluronidase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,241,895...108,246,853
Ensembl chr 8:108,243,133...108,246,850
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G |
Hyal3 |
hyaluronidase 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647
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G |
Ifitm1 |
interferon induced transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169
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G |
Ifitm10 |
interferon induced transmembrane protein 10 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,507,501...197,524,180
Ensembl chr 1:197,507,503...197,525,151
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G |
Ifitm2 |
interferon induced transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,051,539...196,052,719
Ensembl chr 1:196,051,537...196,052,741
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G |
Ifitm3 |
interferon induced transmembrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,111,026...196,112,135
Ensembl chr 1:196,111,043...196,112,203
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G |
Ifitm5 |
interferon induced transmembrane protein 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232
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G |
Ifrd2 |
interferon-related developmental regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194
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G |
Igf2 |
insulin-like growth factor 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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G |
Inka1 |
inka box actin regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,674,263...108,675,953
Ensembl chr 8:108,674,263...108,675,953
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G |
Ins1 |
insulin 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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G |
Ins2 |
insulin 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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G |
Ip6k1 |
inositol hexakisphosphate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,693,068...108,737,278
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G |
Ipo13 |
importin 13 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 |
|
NCBI chr 5:131,433,770...131,454,044
Ensembl chr 5:131,433,776...131,454,043
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G |
Ipp |
intracisternal A particle-promoted polypeptide |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:129,962,528...130,001,237
Ensembl chr 5:129,962,643...130,001,242
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G |
Irf7 |
interferon regulatory factor 7 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
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G |
Itpa |
inosine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:26224535 |
|
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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G |
Katnb1 |
katanin regulatory subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
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NCBI chr19:9,921,216...9,940,853
Ensembl chr19:9,921,219...9,940,650
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G |
Kcnb1 |
potassium voltage-gated channel subfamily B member 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy |
ClinVar |
PMID:25741868 PMID:26477325 PMID:28252636 PMID:28492532 PMID:28806457 PMID:29264397 PMID:29758562 PMID:31512327 PMID:31513310 PMID:31600826 PMID:32581362 PMID:32954514 PMID:33951346 More...
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NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
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G |
Kcnc2 |
potassium voltage-gated channel subfamily C member 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
|
|
NCBI chr 7:47,700,035...47,883,979
Ensembl chr 7:47,700,288...47,883,968
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G |
Kcnh5 |
potassium voltage-gated channel subfamily H member 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:24133262 PMID:25741868 PMID:28166811 PMID:28492532 PMID:31440721 PMID:32725632 PMID:35874597 PMID:36307226 More...
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NCBI chr 6:93,615,174...93,908,107
Ensembl chr 6:93,624,529...93,908,107
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G |
Kcnq1 |
potassium voltage-gated channel subfamily Q member 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy |
ClinVar |
PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 PMID:9872318 PMID:10363917 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12742592 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14985406 PMID:15030501 PMID:15596469 PMID:15596769 PMID:16039833 PMID:16199547 PMID:16260777 PMID:16319223 PMID:16597729 PMID:16686649 PMID:16691402 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17290276 PMID:17475800 PMID:17576681 PMID:17675531 PMID:17872363 PMID:17993630 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:18625963 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19464834 PMID:19559753 PMID:19822871 PMID:20119593 PMID:20437616 PMID:20805988 PMID:21685056 PMID:21937445 PMID:22013194 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23166088 PMID:23271449 PMID:23360469 PMID:23440208 PMID:23453664 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23797855 PMID:23849776 PMID:23934111 PMID:23959892 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24586341 PMID:24759409 PMID:24811917 PMID:24848745 PMID:24904429 PMID:25046240 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25590979 PMID:25607374 PMID:25640679 PMID:25740509 PMID:25741868 PMID:25741905 PMID:25818041 PMID:25880994 PMID:25921748 PMID:25951140 PMID:25959266 PMID:25960349 PMID:25982755 PMID:26007637 PMID:26030193 PMID:26070303 PMID:26073431 PMID:26138355 PMID:26148514 PMID:26446091 PMID:26467025 PMID:26469389 PMID:26544041 PMID:26704558 PMID:26758118 PMID:26795593 PMID:26993267 PMID:27030113 PMID:27054081 PMID:27334371 PMID:27441201 PMID:27466704 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27781031 PMID:27861786 PMID:27864847 PMID:27888506 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28420012 PMID:28492532 PMID:28503627 PMID:28602030 PMID:28628100 PMID:28631195 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28837158 PMID:28867141 PMID:28926830 PMID:28940419 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29286351 PMID:29314763 PMID:29358611 PMID:29383681 PMID:29390993 PMID:29429461 PMID:29455050 PMID:29588952 PMID:29644095 PMID:29655203 PMID:29694806 PMID:29720203 PMID:29726930 PMID:29760947 PMID:29852413 PMID:29933521 PMID:30109124 PMID:30126342 PMID:30174244 PMID:30182498 PMID:30185235 PMID:30440138 PMID:30459225 PMID:30478917 PMID:30552426 PMID:30776697 PMID:30866059 PMID:30945278 PMID:30977854 PMID:31019026 PMID:31069529 PMID:31152295 PMID:31164858 PMID:31199083 PMID:31295832 PMID:31302675 PMID:31418850 PMID:31440733 PMID:31512412 PMID:31552204 PMID:31564432 PMID:31780880 PMID:31832524 PMID:31957018 PMID:32139178 PMID:32165824 PMID:32179837 PMID:32184343 PMID:32362866 PMID:32488064 PMID:32573669 PMID:32581362 PMID:32613771 PMID:32712949 PMID:32770121 PMID:32860008 PMID:32917465 PMID:32942014 PMID:33333793 PMID:33659638 PMID:33754465 PMID:33860439 PMID:33897753 PMID:33935161 PMID:34020651 PMID:34055682 PMID:34120799 PMID:34136434 PMID:34354098 PMID:34395220 PMID:34489640 PMID:34711204 PMID:35104249 PMID:35377796 PMID:35468861 PMID:35557555 PMID:35701389 PMID:35770094 PMID:35906921 PMID:36539902 PMID:36849527 More...
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kif2c |
kinesin family member 2C |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,637,347...130,662,680
Ensembl chr 5:130,637,347...130,662,637
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G |
Kifc3 |
kinesin family member C3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,825,114...9,920,371
Ensembl chr19:9,886,693...9,920,451
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G |
Klf17 |
KLF transcription factor 17 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:131,293,068...131,315,878
Ensembl chr 5:131,307,476...131,315,084
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G |
Krtap5-1 |
keratin associated protein 5-1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,278,886...197,279,893
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G |
Lama5 |
laminin subunit alpha 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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G |
Lcn2 |
lipocalin 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Lime1 |
Lck interacting transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,490,535...168,496,627
Ensembl chr 3:168,490,074...168,493,127
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G |
Lmntd2 |
lamin tail domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156
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G |
Lmx1b |
LIM homeobox transcription factor 1 beta |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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G |
Lrsam1 |
leucine rich repeat and sterile alpha motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
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G |
Lsmem2 |
leucine-rich single-pass membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115
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G |
Lsp1 |
lymphocyte-specific protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416
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G |
Mapkapk3 |
MAPK activated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:107,929,754...107,963,638
Ensembl chr 8:107,929,762...107,963,568
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G |
Mast2 |
microtubule associated serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:129,776,293...129,915,502
Ensembl chr 5:129,775,676...129,915,606
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G |
Mast3 |
microtubule associated serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:34185323 |
|
NCBI chr16:18,636,764...18,663,852
Ensembl chr16:18,636,787...18,663,852
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G |
Mir138-2 |
microRNA 138-2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,674,193...10,674,274
Ensembl chr19:10,674,193...10,674,274
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G |
Mir1b |
microRNA 1b |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,487,117...167,487,201
Ensembl chr 3:167,487,117...167,487,201
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G |
Mir210 |
microRNA 210 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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G |
Mir2964 |
microRNA 2964 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 |
|
NCBI chr 3:13,118,623...13,118,722
Ensembl chr 3:13,118,623...13,118,722
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G |
Mir3582 |
microRNA 3582 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr18:1,885,063...1,885,180
Ensembl chr18:1,885,063...1,885,180
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G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
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G |
Mmp15 |
matrix metallopeptidase 15 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,663,449...9,684,943
Ensembl chr19:9,663,449...9,684,943
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G |
Mob2 |
MOB kinase activator 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,092,991...197,149,978
Ensembl chr 1:197,092,994...197,149,933
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G |
Mon1a |
MON1 homolog A, secretory trafficking associated |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156
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G |
Mrgbp |
MRG domain binding protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,697,129...167,700,592
Ensembl chr 3:167,697,185...167,700,592
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G |
Mrgpre |
MAS related GPR family member E |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,963,786...198,969,862
Ensembl chr 1:198,963,787...198,969,521
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G |
Mrgprg |
MAS related GPR family member G |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,947,648...198,951,556
Ensembl chr 1:198,947,229...198,951,517
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G |
Mrpl23 |
mitochondrial ribosomal protein L23 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222
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G |
Mrps30 |
mitochondrial ribosomal protein S30 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:50,456,253...50,463,128
Ensembl chr 2:50,456,255...50,463,105
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G |
Mst1 |
macrophage stimulating 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416
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G |
Mst1r |
macrophage stimulating 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
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G |
Mt1 |
metallothionein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049
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G |
Mt1-ps3 |
metallothionein 1, pseudogene 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr17:74,786,652...74,787,040
Ensembl chr17:74,786,654...74,787,135
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G |
Mt2A |
metallothionein 2A |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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G |
Mt3 |
metallothionein 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
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G |
Mt4 |
metallothionein 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,863,813...10,865,909
Ensembl chr19:10,863,813...10,865,909
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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G |
Muc6 |
mucin 6, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
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G |
Mutyh |
mutY DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146
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G |
Naa80 |
N(alpha)-acetyltransferase 80, NatH catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563
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G |
Naif1 |
nuclear apoptosis inducing factor 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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|
NCBI chr 3:15,741,239...15,747,672
Ensembl chr 3:15,742,919...15,747,669
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|
G |
Nap1l4 |
nucleosome assembly protein 1-like 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,709,697...198,746,093
Ensembl chr 1:198,709,701...198,746,020
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G |
Nasp |
nuclear autoantigenic sperm protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,057,363...130,083,003
Ensembl chr 5:130,057,363...130,082,928
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G |
Ndrg4 |
NDRG family member 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914
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G |
Niban2 |
niban apoptosis regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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|
NCBI chr 3:16,174,674...16,224,293
Ensembl chr 3:16,174,659...16,224,293
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G |
Nkain4 |
Sodium/potassium transporting ATPase interacting 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,053,294...168,073,944
Ensembl chr 3:168,053,066...168,073,925
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|
G |
Nlrc5 |
NLR family, CARD domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121
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|
G |
Nprl2 |
NPR2-like, GATOR1 complex subunit |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 PMID:30410802 |
|
NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:108,215,814...108,218,996
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|
G |
Ntsr1 |
neurotensin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,606,215...167,656,371
Ensembl chr 3:167,606,215...167,656,377
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|
G |
Nudt21 |
nudix hydrolase 21 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,974,800...10,993,841
Ensembl chr19:10,974,241...10,991,682
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G |
Nup93 |
nucleoporin 93 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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|
G |
Nup98 |
nucleoporin 98 and 96 precursor |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
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|
G |
Odf2 |
outer dense fiber of sperm tails 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 |
|
NCBI chr 3:13,160,981...13,207,223
Ensembl chr 3:13,161,494...13,206,985
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G |
Ogfod1 |
2-oxoglutarate and iron-dependent oxygenase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,945,031...10,974,602
Ensembl chr19:10,946,018...10,975,119
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G |
Ogfr |
opioid growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,703,173...167,709,459
Ensembl chr 3:167,702,695...167,709,473
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G |
Osbpl2 |
oxysterol binding protein-like 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,210,945...167,256,219
Ensembl chr 3:167,210,832...167,256,219
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G |
Osbpl5 |
oxysterol binding protein-like 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,862,071...198,916,469
Ensembl chr 1:198,862,055...198,916,469
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|
G |
Pgap2 |
post-GPI attachment to proteins 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114
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G |
Phlda2 |
pleckstrin homology-like domain, family A, member 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,696,897...198,699,292
Ensembl chr 1:198,696,897...198,697,836
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|
G |
Phrf1 |
PHD and ring finger domains 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
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|
G |
Pidd1 |
p53-induced death domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
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|
G |
Pigp |
phosphatidylinositol glycan anchor biosynthesis, class P |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915 |
|
NCBI chr11:33,682,943...33,689,111
Ensembl chr11:33,682,948...33,689,321
|
|
G |
Pik3r3 |
phosphoinositide-3-kinase regulatory subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:129,700,925...129,772,591
Ensembl chr 5:129,701,229...129,772,583
|
|
G |
Pip5kl1 |
phosphatidylinositol-4-phosphate 5-kinase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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|
NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
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|
G |
Pkp3 |
plakophilin 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,187,914...196,198,843
Ensembl chr 1:196,187,835...196,198,844
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|
G |
Plk3 |
polo-like kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,607,142...130,612,317
Ensembl chr 5:130,607,142...130,612,317
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|
G |
Pllp |
plasmolipin |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,315,104...10,335,892
Ensembl chr19:10,315,104...10,335,892
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|
G |
Pnpla2 |
patatin-like phospholipase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
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G |
Polr2c |
RNA polymerase II subunit C |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,158,153...10,164,935
Ensembl chr19:10,157,823...10,164,945
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|
G |
Polr2l |
RNA polymerase II, I and III subunit L |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,570,051...196,572,060
|
|
G |
Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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|
G |
Ppdpf |
pancreatic progenitor cell differentiation and proliferation factor |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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|
NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
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|
G |
Prdx1 |
peroxiredoxin 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856
|
|
G |
Prpf6 |
pre-mRNA processing factor 6 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,706,952...168,771,191
Ensembl chr 3:168,704,299...168,774,991
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|
G |
Prss54 |
serine protease 54 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:9,479,995...9,496,838
Ensembl chr19:9,479,995...9,496,835
|
|
G |
Psme3ip1 |
proteasome activator subunit 3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,401,400...10,430,059
Ensembl chr19:10,401,532...10,429,987
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|
G |
Ptch2 |
patched 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
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|
G |
Ptdss2 |
phosphatidylserine synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,241,439...196,267,632
Ensembl chr 1:196,241,494...196,267,685
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|
G |
Ptges2 |
prostaglandin E synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
|
|
NCBI chr 3:15,690,501...15,697,688
Ensembl chr 3:15,690,501...15,697,688
|
|
G |
Ptk6 |
protein tyrosine kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664
|
|
G |
Ptrh1 |
peptidyl-tRNA hydrolase 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
|
|
NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648
|
|
G |
Ralgps1 |
Ral GEF with PH domain and SH3 binding motif 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,433,323...16,670,276
Ensembl chr 3:16,433,742...16,669,972
|
|
G |
Rassf1 |
Ras association domain family member 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
|
|
G |
Rassf7 |
Ras association domain family member 7 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770
|
|
G |
Rbbp8nl |
RBBP8 N-terminal like |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,364,048...167,378,993
Ensembl chr 3:167,364,048...167,379,092
|
|
G |
Rbm5 |
RNA binding motif protein 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430
|
|
G |
Rbm6 |
RNA binding motif protein 6 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771
|
|
G |
Rhog |
ras homolog family member G |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,618,713...156,630,710
Ensembl chr 1:156,615,349...156,631,257
|
|
G |
Rnf123 |
ring finger protein 123 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675
|
|
G |
Rnf220 |
ring finger protein 220 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,739,173...130,961,386
Ensembl chr 5:130,739,183...130,961,418
|
|
G |
Rnh1 |
ribonuclease/angiogenin inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,269,293...196,281,763
Ensembl chr 1:196,269,293...196,281,910
|
|
G |
Rpl12 |
ribosomal protein L12 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,264,269...16,266,645
Ensembl chr 3:16,264,251...16,266,642
|
|
G |
Rplp2 |
ribosomal protein lateral stalk subunit P2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
|
|
G |
Rps21-ps1 |
ribosomal protein S21, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 5:153,387,133...153,387,476
Ensembl chr 5:153,387,176...153,387,427
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G |
Rps8 |
ribosomal protein S8 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,630,362...130,632,932
Ensembl chr 5:130,629,716...130,633,268
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G |
Rspry1 |
ring finger and SPRY domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,352,449...10,403,015
Ensembl chr19:10,353,821...10,401,102
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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G |
Samd10 |
sterile alpha motif domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,700,280...168,704,427
Ensembl chr 3:168,700,284...168,705,248
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy |
ClinVar |
PMID:1868258 PMID:1893099 PMID:9126059 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11524484 PMID:11567038 PMID:11756608 PMID:11823106 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12535936 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12773292 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15133511 PMID:15263074 PMID:15277629 PMID:15508916 PMID:15694566 PMID:15805193 PMID:15880351 PMID:16075041 PMID:16199547 PMID:16210358 PMID:16359470 PMID:16380441 PMID:16458823 PMID:16525050 PMID:16541393 PMID:16713913 PMID:16713920 PMID:16865694 PMID:17001291 PMID:17054684 PMID:17054685 PMID:17129991 PMID:17166794 PMID:17347258 PMID:17436242 PMID:17470132 PMID:17507202 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17679682 PMID:17903680 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18251839 PMID:18327258 PMID:18330841 PMID:18413471 PMID:18414213 PMID:18479393 PMID:18554359 PMID:18566737 PMID:18621678 PMID:18632234 PMID:18755274 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19220312 PMID:19236456 PMID:19289736 PMID:19303743 PMID:19304393 PMID:19332696 PMID:19339291 PMID:19350499 PMID:19359143 PMID:19400878 PMID:19464195 PMID:19522081 PMID:19563349 PMID:19563458 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19763152 PMID:19763161 PMID:19782004 PMID:19783390 PMID:19809937 PMID:19949041 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20301562 PMID:20307669 PMID:20358599 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20619928 PMID:20729507 PMID:20738378 PMID:20879882 PMID:21068128 PMID:21248271 PMID:21258341 PMID:21371021 PMID:21396429 PMID:21416599 PMID:21425109 PMID:21426328 PMID:21488303 PMID:21555645 PMID:21692795 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21775168 PMID:21844054 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22028529 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22188362 PMID:22292851 PMID:22406018 PMID:22409937 PMID:22495306 PMID:22525008 PMID:22550089 PMID:22591328 PMID:22612257 PMID:22780858 PMID:22781031 PMID:22848613 PMID:22944210 PMID:22992668 PMID:23016767 PMID:23020937 PMID:23032131 PMID:23086956 PMID:23103419 PMID:23184456 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23485646 PMID:23527921 PMID:23559409 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:23945787 PMID:24066114 PMID:24097157 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24337656 PMID:24412860 PMID:24472396 PMID:24502503 PMID:24623842 PMID:24650168 PMID:24656210 PMID:24679980 PMID:24848745 PMID:24876116 PMID:25108116 PMID:25206388 PMID:25243660 PMID:25253744 PMID:25326635 PMID:25348405 PMID:25356970 PMID:25378155 PMID:25401298 PMID:25439579 PMID:25459968 PMID:25459969 PMID:25492405 PMID:25524840 PMID:25525159 PMID:25569746 PMID:25576396 PMID:25590135 PMID:25640679 PMID:25669891 PMID:25741868 PMID:25754450 PMID:25795284 PMID:25818041 PMID:25885068 PMID:25986186 PMID:25995458 PMID:26068938 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26236192 PMID:26252084 PMID:26311622 PMID:26314341 PMID:26339958 PMID:26394714 PMID:26467025 PMID:26544041 PMID:26555147 PMID:26633542 PMID:26680202 PMID:26699486 PMID:26716362 PMID:26763045 PMID:26795593 PMID:26845707 PMID:26863999 PMID:26934580 PMID:26990884 PMID:26993267 PMID:27029629 PMID:27066544 PMID:27113213 PMID:27155821 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27458797 PMID:27465585 PMID:27491411 PMID:27541642 PMID:27582020 PMID:27652284 PMID:27734276 PMID:27781031 PMID:27864847 PMID:27959697 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28166811 PMID:28186331 PMID:28192756 PMID:28202706 PMID:28356460 PMID:28379373 PMID:28387369 PMID:28469861 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28518218 PMID:28525652 PMID:28544625 PMID:28554332 PMID:28664031 PMID:28708303 PMID:28735751 PMID:28794249 PMID:28837158 PMID:28842445 PMID:28864458 PMID:28951233 PMID:29056246 PMID:29068549 PMID:29095814 PMID:29100083 PMID:29141279 PMID:29141311 PMID:29142202 PMID:29145747 PMID:29186148 PMID:29188601 PMID:29190809 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29455050 PMID:29460957 PMID:29573403 PMID:29655203 PMID:29720203 PMID:29739726 PMID:29745119 PMID:29760947 PMID:29778030 PMID:29852413 PMID:29930392 PMID:29933521 PMID:29948376 PMID:29981888 PMID:29986598 PMID:30011152 PMID:30034362 PMID:30146492 PMID:30182498 PMID:30182801 PMID:30185235 PMID:30258939 PMID:30321769 PMID:30368457 PMID:30498473 PMID:30525188 PMID:30526861 PMID:30558019 PMID:30564305 PMID:30577886 PMID:30619928 PMID:30659983 PMID:30660939 PMID:30795902 PMID:30805006 PMID:30868114 PMID:30921204 PMID:30945278 PMID:30977726 PMID:31001185 PMID:31009440 PMID:31019026 PMID:31031587 PMID:31054490 PMID:31069529 PMID:31139143 PMID:31164858 PMID:31175295 PMID:31273778 PMID:31302675 PMID:31439038 PMID:31440721 PMID:31487502 PMID:31618474 PMID:31618753 PMID:31677916 PMID:31720899 PMID:31730442 PMID:31755124 PMID:31765958 PMID:31780880 PMID:31782251 PMID:31791873 PMID:31864146 PMID:31875159 PMID:31880072 PMID:32031527 PMID:32056211 PMID:32090326 PMID:32139178 PMID:32238909 PMID:32276107 PMID:32461654 PMID:32538476 PMID:32573669 PMID:32581296 PMID:32581362 PMID:32593896 PMID:32613771 PMID:32702657 PMID:32845893 PMID:33067208 PMID:33084218 PMID:33108073 PMID:33278787 PMID:33391346 PMID:33411788 PMID:33674996 PMID:33895391 PMID:34015165 PMID:34055682 PMID:34106054 PMID:34107977 PMID:34163418 PMID:34268891 PMID:34338318 PMID:34379890 PMID:34489640 PMID:34539730 PMID:34645491 PMID:34712263 PMID:34938262 PMID:35072530 PMID:35074891 PMID:35087721 PMID:35231114 PMID:35571373 PMID:35627257 PMID:35663268 PMID:36158059 PMID:36229510 PMID:36636894 PMID:36684540 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:15048894 PMID:15133511 PMID:16865694 PMID:17021166 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479388 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20371507 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:23935176 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25741868 PMID:25995458 PMID:26068938 PMID:26993267 PMID:27491411 PMID:27779742 PMID:27781031 PMID:28379373 PMID:28492532 PMID:28709814 PMID:29068549 PMID:29100083 PMID:29655203 PMID:30381472 PMID:30619928 PMID:31054490 PMID:31302675 PMID:31904120 PMID:32400968 PMID:34782754 PMID:35431799 PMID:37578743 More...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25741868 PMID:25995458 PMID:26068938 PMID:27491411 PMID:28235671 PMID:28379373 PMID:28492532 PMID:29068549 PMID:29466837 PMID:29740860 PMID:30146301 PMID:30904718 PMID:32515017 PMID:34081427 More...
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NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISS ISO |
OMIM:300088 | OMIM:300607 | OMIM:300672 | OMIM:308350 | OMIM:609304 | OMIM:612164 | OMIM:613402 | OMIM:613477 | OMIM:613720 | OMIM:613721 | OMIM:613722 | OMIM:614558 | OMIM:614959 | OMIM:615006 | OMIM:615338 | OMIM:615473 | OMIM:615476 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy |
MouseDO ClinVar |
PMID:9536098 PMID:12374766 PMID:15525788 PMID:15800189 PMID:16199547 PMID:17576681 PMID:17881658 PMID:18414213 PMID:19254928 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:24194747 PMID:24352161 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25568300 PMID:25666757 PMID:25725044 PMID:25741868 PMID:25785782 PMID:25799905 PMID:25818041 PMID:25849321 PMID:25914188 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235739 PMID:26252990 PMID:26297079 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26647175 PMID:26677014 PMID:26900580 PMID:26993267 PMID:27165006 PMID:27210545 PMID:27375106 PMID:27659738 PMID:27779742 PMID:27781031 PMID:27864847 PMID:27875746 PMID:27900360 PMID:28135719 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28702509 PMID:28735751 PMID:28923014 PMID:28973083 PMID:29056246 PMID:29100083 PMID:29121005 PMID:29186148 PMID:29263050 PMID:29356177 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:29852413 PMID:29933521 PMID:30078772 PMID:30109124 PMID:30171078 PMID:30185235 PMID:30314295 PMID:30615093 PMID:30951195 PMID:30968951 PMID:31026061 PMID:31054490 PMID:31069529 PMID:31402610 PMID:31487502 PMID:31618753 PMID:31625145 PMID:31675620 PMID:31887642 PMID:31904124 PMID:32040247 PMID:32090326 PMID:32651551 PMID:32725632 PMID:32901917 PMID:32916281 PMID:32920374 PMID:33004838 PMID:33201365 PMID:33827760 PMID:33851778 PMID:34120799 PMID:34431999 PMID:35188110 PMID:35701389 More...
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NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25995458 PMID:26068938 PMID:27491411 PMID:28202706 PMID:28379373 PMID:28492532 PMID:29068549 PMID:30795902 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Sct |
secretin |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658
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G |
Sema3b |
semaphorin 3B |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919
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G |
Sema3f |
semaphorin 3F |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083
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G |
Setd6 |
SET domain containing 6, protein lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,343,309...9,350,477
Ensembl chr19:9,347,458...9,350,453
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G |
Sh2d3c |
SH2 domain containing 3C |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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NCBI chr 3:16,010,622...16,046,491
Ensembl chr 3:16,010,625...16,046,484
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G |
Sigirr |
single Ig and TIR domain containing |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,195,363...196,208,692
Ensembl chr 1:196,199,462...196,202,269
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G |
Slc12a3 |
solute carrier family 12 member 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
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G |
Slc17a9 |
solute carrier family 17 member 9 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,839,246...167,857,462
Ensembl chr 3:167,839,385...167,855,985
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G |
Slc22a18 |
solute carrier family 22, member 18 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975
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G |
Slc25a22 |
solute carrier family 25 member 22 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:15592994 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19780765 PMID:25033742 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28255779 PMID:28454995 PMID:28492532 PMID:29924869 PMID:31589614 More...
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NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
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G |
Slc25a25 |
solute carrier family 25 member 25 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216
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G |
Slc27a4 |
solute carrier family 27 member 4 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 |
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NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
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G |
Slc2a4rg |
SLC2A4 regulator |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,493,975...168,497,616
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G |
Slc2a8 |
solute carrier family 2 member 8 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,274,918...16,284,536
Ensembl chr 3:16,274,925...16,284,464
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G |
Slc38a3 |
solute carrier family 38, member 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
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G |
Slc38a7 |
solute carrier family 38, member 7 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,209,203...9,225,472
Ensembl chr19:9,209,257...9,225,454
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G |
Slc6a9 |
solute carrier family 6 member 9 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 |
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NCBI chr 5:131,374,562...131,408,733
Ensembl chr 5:131,374,542...131,408,728
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G |
Slco4a1 |
solute carrier organic anion transporter family, member 4a1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,559,177...167,578,307
Ensembl chr 3:167,559,316...167,578,305
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G |
Snap25 |
synaptosome associated protein 25 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25381298 PMID:25741868 PMID:28492532 PMID:33147442 PMID:33299146 |
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NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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G |
Sox18 |
SRY-box transcription factor 18 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
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G |
Spmip8 |
sperm microtubule inner protein 8 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,713,281...9,722,257
Ensembl chr19:9,712,641...9,722,257
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G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20228407 PMID:22258530 PMID:22368301 PMID:22722545 PMID:24183449 PMID:24183451 PMID:25224718 PMID:25640679 PMID:25658047 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26704558 PMID:28166811 PMID:28199897 PMID:28379358 PMID:28492532 PMID:29050398 PMID:29358611 PMID:29655203 PMID:31069529 PMID:31332438 PMID:31452935 PMID:31515523 PMID:31785789 PMID:32811770 PMID:33206935 PMID:33578420 PMID:34489640 PMID:34556655 PMID:34590414 PMID:34653234 PMID:35150594 PMID:36331550 More...
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NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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G |
Srms |
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915
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G |
St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23252400 PMID:25640679 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31584066 More...
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NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
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G |
St6galnac4 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
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G |
St6galnac6 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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NCBI chr 3:15,894,275...15,907,502
Ensembl chr 3:15,885,968...15,907,496
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G |
Stim1 |
stromal interaction molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
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G |
Stmn3 |
stathmin 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056
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G |
Stxbp1 |
syntaxin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 PMID:19557857 PMID:20603329 PMID:20876469 PMID:20887364 PMID:21062273 PMID:21193638 PMID:21204804 PMID:21364700 PMID:21762454 PMID:21770924 PMID:21900502 PMID:22211739 PMID:22368301 PMID:22495311 PMID:22612257 PMID:22722545 PMID:23020937 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23858467 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25326390 PMID:25326635 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25533962 PMID:25556537 PMID:25640679 PMID:25658047 PMID:25693842 PMID:25714420 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26648591 PMID:26795593 PMID:26865513 PMID:26918652 PMID:26993267 PMID:27069701 PMID:27159321 PMID:27171548 PMID:27184330 PMID:27652284 PMID:27779742 PMID:27798625 PMID:27854218 PMID:28133863 PMID:28135719 PMID:28387360 PMID:28387369 PMID:28492532 PMID:28628100 PMID:28771251 PMID:28947817 PMID:29056246 PMID:29067685 PMID:29186148 PMID:29264391 PMID:29314583 PMID:29538625 PMID:29655203 PMID:29760947 PMID:29761117 PMID:29896790 PMID:30109124 PMID:30174244 PMID:30185235 PMID:30266908 PMID:30397338 PMID:30488659 PMID:30504930 PMID:30540253 PMID:30842647 PMID:30945278 PMID:31175295 PMID:31221716 PMID:31255830 PMID:31332438 PMID:31474318 PMID:31780880 PMID:32005694 PMID:32112430 PMID:32238909 PMID:32371413 PMID:32521962 PMID:32581362 PMID:32643187 PMID:32960281 PMID:33176815 PMID:33196034 PMID:33206935 PMID:33272087 PMID:34247411 PMID:34445196 PMID:34489640 PMID:34490615 PMID:35007884 PMID:35655584 More...
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NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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G |
Swi5 |
SWI5 homologous recombination repair protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 |
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NCBI chr 3:15,574,687...15,583,760
Ensembl chr 3:15,564,715...15,583,805
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G |
Syt8 |
synaptotagmin 8 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:197,588,126...197,593,598
Ensembl chr 1:197,590,149...197,593,504
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G |
Taldo1 |
transaldolase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
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G |
Tcfl5 |
transcription factor like 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,734,471...167,754,174
Ensembl chr 3:167,734,473...167,754,282
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G |
Tesk2 |
testis associated actin remodelling kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,178,715...130,270,594
Ensembl chr 5:130,185,033...130,271,292
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G |
Th |
tyrosine hydroxylase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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G |
Tmem115 |
transmembrane protein 115 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 PMID:30410802 |
|
NCBI chr 8:108,207,463...108,212,327
Ensembl chr 8:108,207,654...108,212,298
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G |
Tmem53 |
transmembrane protein 53 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,721,780...130,737,692
Ensembl chr 5:130,721,659...130,737,692
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G |
Tmem69 |
transmembrane protein 69 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,004,888...130,008,466
Ensembl chr 5:130,004,901...130,010,655
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G |
Tmem80 |
transmembrane protein 80 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367 Ensembl chr 1:196,436,003...196,444,367
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G |
Tnk2 |
tyrosine kinase, non-receptor, 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009
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G |
Tnni2 |
troponin I2, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
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G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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G |
Toe1 |
target of EGR1, exonuclease |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,270,484...130,274,050
Ensembl chr 5:130,262,319...130,274,050
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G |
Tollip |
toll interacting protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625
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G |
Tor2a |
torsin family 2, member A |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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NCBI chr 3:16,048,591...16,053,198
Ensembl chr 3:16,048,549...16,052,634
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G |
Tpd52l2 |
TPD52 like 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,598,449...168,618,201
Ensembl chr 3:168,594,609...168,619,762
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G |
Traip |
TRAF-interacting protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
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G |
Trpm5 |
transient receptor potential cation channel, subfamily M, member 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,254,956...198,277,824
Ensembl chr 1:198,255,723...198,277,654
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G |
Trub2 |
TruB pseudouridine synthase family member 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 |
|
NCBI chr 3:13,049,220...13,059,836
Ensembl chr 3:13,033,745...13,059,930
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G |
Tspan1 |
tetraspanin 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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G |
Tspan32 |
tetraspanin 32 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,190,128...198,204,447
Ensembl chr 1:198,190,164...198,204,445
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G |
Tspan4 |
tetraspanin 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,571,307...196,593,842
Ensembl chr 1:196,572,228...196,617,448
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G |
Tssc4 |
tumor suppressing subtransferable candidate 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,251,986...198,254,810
Ensembl chr 1:198,235,487...198,254,980
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G |
Ttc16 |
tetratricopeptide repeat domain 16 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 More...
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NCBI chr 3:16,052,567...16,064,598
Ensembl chr 3:16,048,565...16,064,547
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14738421 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23195492 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25995458 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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G |
Tusc2 |
tumor suppressor 2, mitochondrial calcium regulator |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,236,838...108,240,056
Ensembl chr 8:108,236,838...108,240,056
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G |
Uba5 |
ubiquitin-like modifier activating enzyme 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 PMID:33811063 More...
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|
NCBI chr 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894
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G |
Uba7 |
ubiquitin-like modifier activating enzyme 7 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,665,289...108,674,097
Ensembl chr 8:108,665,292...108,674,099
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G |
Uckl1 |
uridine-cytidine kinase 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,674,849...168,687,513
Ensembl chr 3:168,674,849...168,698,091
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G |
Urm1 |
ubiquitin related modifier 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 |
|
NCBI chr 3:13,100,340...13,117,064
Ensembl chr 3:13,092,200...13,117,642 Ensembl chr 3:13,092,200...13,117,642
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G |
Urod |
uroporphyrinogen decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
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G |
Usb1 |
U6 snRNA biogenesis phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:9,689,313...9,702,306
Ensembl chr19:9,689,316...9,702,302
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G |
Ythdf1 |
YTH N6-methyladenosine RNA binding protein F1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172
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G |
Zbtb34 |
zinc finger and BTB domain containing 34 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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|
NCBI chr 3:16,703,355...16,726,082
Ensembl chr 3:16,703,262...16,726,098
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G |
Zbtb43 |
zinc finger and BTB domain containing 43 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 3:16,744,535...16,763,854
Ensembl chr 3:16,744,535...16,763,909
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G |
Zbtb46 |
zinc finger and BTB domain containing 46 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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|
NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
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G |
Zfp319 |
zinc finger protein 319 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:9,702,827...9,706,806
Ensembl chr19:9,702,144...9,713,198
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G |
Zfp35 |
zinc finger protein 35 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr18:15,268,852...15,284,334
Ensembl chr18:15,268,814...15,285,088
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|
G |
Zfp512b |
zinc finger protein 512B |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,687,520...168,698,067
Ensembl chr 3:168,687,521...168,698,091
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G |
Zgpat |
zinc finger CCCH-type and G-patch domain containing |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,473,836...168,490,380
Ensembl chr 3:168,473,981...168,490,380
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G |
Zmynd10 |
zinc finger, MYND-type containing 10 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 PMID:30410802 |
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NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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G |
Zswim5 |
zinc finger, SWIM-type containing 5 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,346,733...130,463,791
Ensembl chr 5:130,343,034...130,463,784
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G |
Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 More...
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NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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G |
Dicer1 |
dicer 1 ribonuclease III |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:25022261 PMID:25326637 PMID:25741868 |
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NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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G |
Diras1 |
DIRAS family GTPase 1 |
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ISO |
Epilepsy, generalized myoclonic, with photosensitivity |
OMIA |
PMID:28223533 PMID:29194766 |
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NCBI chr 7:8,687,964...8,692,828
Ensembl chr 7:8,687,942...8,693,831
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G |
Egr2 |
early growth response 2 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
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G |
Jmjd1c |
jumonji domain containing 1C |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22495311 PMID:25741868 PMID:26181491 PMID:28166811 PMID:28492532 PMID:31785789 PMID:31954878 More...
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NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122
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G |
Kcnd2 |
potassium voltage-gated channel subfamily D member 2 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19171772 PMID:24501278 PMID:25214526 PMID:25640679 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29581270 PMID:30571183 PMID:34245260 PMID:35510384 PMID:35897654 More...
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NCBI chr 4:49,775,812...50,277,746
Ensembl chr 4:49,776,246...50,277,728
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G |
Nrbf2 |
nuclear receptor binding factor 2 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr20:21,308,555...21,326,881
Ensembl chr20:21,308,576...21,326,818
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15263074 PMID:15277629 PMID:15508916 PMID:16199547 PMID:16210358 PMID:16458823 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17054684 PMID:17054685 PMID:17166794 PMID:17347258 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17903680 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18566737 PMID:18755274 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19350499 PMID:19359143 PMID:19522081 PMID:19563349 PMID:19563458 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19782004 PMID:19809937 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21425109 PMID:21555645 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:22944210 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:24066114 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24328833 PMID:24412860 PMID:24502503 PMID:24656210 PMID:24679980 PMID:24776920 PMID:25206388 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25525159 PMID:25590135 PMID:25669891 PMID:25741868 PMID:25754450 PMID:25818041 PMID:25885068 PMID:25986186 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27652284 PMID:27781031 PMID:27864847 PMID:27959697 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28186331 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28544625 PMID:28554332 PMID:28664031 PMID:28708303 PMID:28794249 PMID:28837158 PMID:28864458 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29142202 PMID:29186148 PMID:29190809 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29745119 PMID:29760947 PMID:29852413 PMID:29930392 PMID:29933521 PMID:29948376 PMID:29981888 PMID:30034362 PMID:30146492 PMID:30182498 PMID:30185235 PMID:30311386 PMID:30321769 PMID:30368457 PMID:30525188 PMID:30526861 PMID:30577886 PMID:30619928 PMID:30659983 PMID:30868114 PMID:30921204 PMID:30945278 PMID:31001185 PMID:31009440 PMID:31019026 PMID:31031587 PMID:31069529 PMID:31164858 PMID:31487502 PMID:31618474 PMID:31755124 PMID:31765958 PMID:31780880 PMID:31791873 PMID:31864146 PMID:31875159 PMID:32056211 PMID:32090326 PMID:32238909 PMID:32461654 PMID:32538476 PMID:32573669 PMID:32581362 PMID:32593896 PMID:32613771 PMID:32702657 PMID:32845893 PMID:33067208 PMID:33084218 PMID:33278787 PMID:33411788 PMID:33674996 PMID:34015165 PMID:34107977 PMID:34163418 PMID:34268891 PMID:34338318 PMID:34379890 PMID:34489640 PMID:34539730 PMID:35074891 PMID:35087721 PMID:35571373 PMID:35627257 PMID:35663268 PMID:36158059 PMID:36684540 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 PMID:25250524 PMID:25741868 PMID:25993546 PMID:26264438 PMID:26467025 PMID:26675522 PMID:26920677 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 PMID:29911575 PMID:30316835 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Slc25a22 |
solute carrier family 25 member 22 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:15592994 PMID:18414213 PMID:19780765 PMID:25033742 PMID:25741868 PMID:26467025 PMID:27843123 PMID:27864847 PMID:28454995 PMID:28492532 PMID:29924869 More...
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NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
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G |
Snx27 |
sorting nexin 27 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:182,135,904...182,218,906
Ensembl chr 2:182,135,905...182,218,906
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:18414213 PMID:22277662 PMID:24033266 PMID:24291220 PMID:24848745 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28726039 PMID:29358611 PMID:30311386 PMID:31216405 PMID:32004315 PMID:33619735 More...
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NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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G |
Tspan12 |
tetraspanin 12 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246
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G |
Tuba1a |
tubulin, alpha 1A |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30744660 PMID:31833200 |
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NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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G |
Nusap1 |
nucleolar and spindle associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 3:106,603,273...106,633,428
Ensembl chr 3:106,603,289...106,633,624
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 PMID:17576681 PMID:18005052 PMID:18266750 PMID:18414213 PMID:18678442 PMID:18845387 PMID:20118933 PMID:21307862 PMID:21560189 PMID:22508754 PMID:23224214 PMID:23708187 PMID:23833122 PMID:24033266 PMID:24938145 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27125728 PMID:27232581 PMID:27890643 PMID:28492532 PMID:29261713 PMID:29652299 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31061747 PMID:31167812 PMID:31436889 PMID:31707899 PMID:32010037 PMID:32056211 PMID:32347949 PMID:32504494 PMID:32980744 PMID:33654647 PMID:34009545 PMID:34040816 PMID:35354845 More...
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NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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G |
Ace2 |
angiotensin converting enzyme 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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G |
Ap1s2 |
adaptor related protein complex 1 subunit sigma 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262
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G |
Asb11 |
ankyrin repeat and SOCS box containing 11 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,014,485...30,037,808
Ensembl chr X:29,992,416...30,037,807
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G |
Asb9 |
ankyrin repeat and SOCS box-containing 9 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:29,956,576...30,001,436
Ensembl chr X:29,956,576...30,001,105
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G |
Bmx |
BMX non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,227,251...30,290,015
Ensembl chr X:30,227,251...30,289,993
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G |
Car5b |
carbonic anhydrase 5B |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,474,697...30,534,797
Ensembl chr X:30,474,784...30,533,837
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G |
Cltrn |
collectrin, amino acid transport regulator |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,361,967...30,395,264
Ensembl chr X:30,361,967...30,395,349
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G |
Fancb |
FA complementation group B |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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G |
Mospd2 |
motile sperm domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:29,420,485...29,472,099
Ensembl chr X:29,420,586...29,462,398
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G |
Piga |
phosphatidylinositol glycan anchor biosynthesis, class A |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 PMID:9536098 PMID:10087994 PMID:15307104 PMID:17576681 PMID:19377476 PMID:22305531 PMID:24259184 PMID:24259288 PMID:24357517 PMID:24706016 PMID:24759409 PMID:25326635 PMID:25590979 PMID:25741868 PMID:26467025 PMID:26545172 PMID:27353043 PMID:28133863 PMID:28441409 PMID:28492532 PMID:29159939 PMID:29310717 PMID:29314583 PMID:29656098 PMID:31164858 PMID:31175295 PMID:31618474 PMID:31704190 PMID:31957018 PMID:32176464 PMID:32220244 PMID:32452540 PMID:32694024 PMID:33333793 PMID:33763700 PMID:34355501 PMID:34782754 More...
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NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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G |
Pir |
pirin |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218
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G |
Vegfd |
vascular endothelial growth factor D |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295
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G |
Zrsr2 |
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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G |
Pigq |
phosphatidylinositol glycan anchor biosynthesis, class Q |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 |
OMIM ClinVar |
PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31148362 PMID:32588908 PMID:32746448 More...
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NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
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