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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 |
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NCBI chr11:71,348,726...71,388,520
Ensembl chr11:71,348,717...71,387,992
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G |
Prrt2 |
proline-rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 2 ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:9579893 PMID:11179027 PMID:12953268 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22623405 PMID:22744660 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22895590 PMID:22985072 PMID:23077016 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23299620 PMID:23343561 PMID:23532549 PMID:23535490 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24609974 PMID:24661410 PMID:24755245 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25595153 PMID:25667652 PMID:25741868 PMID:25915028 PMID:26384010 PMID:26446061 PMID:26467025 PMID:26544041 PMID:26561923 PMID:26598493 PMID:26598494 PMID:26621826 PMID:26717662 PMID:26876767 PMID:26993267 PMID:27123484 PMID:28074849 PMID:28492532 PMID:29334453 PMID:30980674 |
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NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
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G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
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NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3 DNA: missense mutation: exon 16 : p.N1001K |
OMIM ClinVar |
PMID:3508699 PMID:6660252 PMID:11326335 PMID:11371648 PMID:11738931 PMID:12243921 PMID:12610651 PMID:15048894 PMID:15301839 PMID:15316014 PMID:16884893 PMID:17021166 PMID:18414213 PMID:18479388 PMID:19702560 PMID:19786696 PMID:20371507 PMID:20956790 PMID:21416599 PMID:21692795 PMID:21893419 PMID:22029951 PMID:22495306 PMID:22581653 PMID:22591750 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23360469 PMID:23550958 PMID:23758435 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:24650168 PMID:24848745 PMID:25326635 PMID:25326637 PMID:25348405 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26068938 PMID:26350204 PMID:26467025 PMID:26637798 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27153334 PMID:27159988 PMID:27290639 PMID:27328862 PMID:27779742 PMID:27781031 PMID:27824329 PMID:27854218 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28554332 PMID:28628100 PMID:28708303 PMID:28867142 PMID:29100083 PMID:29186148 PMID:29215089 PMID:29358611 PMID:29625812 PMID:29655203 PMID:30564305 PMID:30619928 PMID:32860008, PMID:16417554 |
RGD:13207596 |
NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:21416599 PMID:21692795 PMID:21893419 PMID:23016767 PMID:23184456 PMID:26068938 PMID:27153334 PMID:28492532 |
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NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISO |
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 |
ClinVar |
PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 |
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NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 5 |
ClinVar OMIM |
PMID:18414213 PMID:25741868 PMID:26677014 PMID:27210545 PMID:28492532 |
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NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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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 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISO |
ClinVar Annotator: match by term: Benign familial neonatal seizures |
ClinVar |
PMID:14534157 PMID:16235065 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18625963 PMID:19344764 PMID:21687499 PMID:21703448 PMID:23020937 PMID:23146207 PMID:23360469 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25052858 PMID:25278462 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29383681 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 |
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NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures ClinVar Annotator: match by term: Benign familial infantile convulsions |
ClinVar |
PMID:11738931 PMID:15048894 PMID:18414213 PMID:18479388 PMID:19702560 PMID:20956790 PMID:22029951 PMID:22581653 PMID:22591750 PMID:23550958 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27328862 PMID:27781031 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28628100 PMID:28708303 PMID:29186148 PMID:32860008 |
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NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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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 1 ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia ClinVar Annotator: match by OMIM:121200 |
OMIM ClinVar |
PMID:3360469 PMID:7980108 PMID:9425895 PMID:9430594 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:16260777 PMID:16319223 PMID:16686649 PMID:16691402 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17475800 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:21913284 PMID:21937445 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23290024 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24375629 PMID:24586341 PMID:25046240 PMID:25262651 PMID:25326635 PMID:25740509 PMID:25741868 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:28133863 PMID:28139826 PMID:28399683 PMID:28492532 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29390993 PMID:29429461 PMID:29655203 PMID:29933521 PMID:30126342 PMID:30185235 PMID:31152295 PMID:31199083 PMID:32860008 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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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 2 |
ClinVar |
PMID:12742592 PMID:15249611 PMID:17129708 PMID:28492532 PMID:29314763 PMID:31199083 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures ClinVar Annotator: match by term: Benign familial neonatal seizures 2 DNA:missense mutation:cds:p.W309R (human) DNA:missense mutation:cds:p.G263V (human) ClinVar Annotator: match by OMIM:121201 |
OMIM ClinVar |
PMID:1859177 PMID:9425900 PMID:10852552 PMID:14534157 PMID:16235065 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18625963 PMID:19344764 PMID:21687499 PMID:21703448 PMID:23020937 PMID:23146207 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879, PMID:10852552, PMID:9425900 |
RGD:9686433, RGD:9686418 |
NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia |
ClinVar |
PMID:24375629 PMID:25741868 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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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 Neonatal Epilepsy 1 |
ClinVar |
PMID:16916607 PMID:22275249 PMID:22926866 PMID:23621294 PMID:23692823 PMID:25741868 PMID:25959266 PMID:26544041 PMID:27535030 PMID:27602407 PMID:27779742 PMID:28492532 PMID:30185235 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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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:16491085 PMID:20554659 PMID:21733724 PMID:25741868 PMID:28492532 |
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NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
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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 chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19380078 PMID:26910900 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISO ISS |
ClinVar Annotator: match by term: Benign Neonatal Epilepsy ClinVar Annotator: match by term: Benign familial neonatal seizures OMIM:121200 | OMIM:121201 | OMIM:269720 |
ClinVar MouseDO |
PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:21703448 PMID:23596459 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: neonatal seizures |
ClinVar |
PMID:14635118 PMID:16919951 PMID:20185557 PMID:21357833 PMID:21550804 PMID:21880868 PMID:25741868 PMID:28492532 |
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NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile |
ClinVar |
PMID:11738931 PMID:15048894 PMID:18414213 PMID:18479388 PMID:19702560 PMID:20956790 PMID:22029951 PMID:22581653 PMID:22591750 PMID:23550958 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27328862 PMID:27781031 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28628100 PMID:28708303 PMID:29186148 PMID:32860008 |
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NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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G |
Ccdc120 |
coiled-coil domain containing 120 |
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ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,610,230...15,616,727
Ensembl chr X:15,598,652...15,617,665
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G |
Eras |
ES cell expressed Ras |
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ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,318,215...15,322,601
Ensembl chr X:15,419,028...15,423,414 Ensembl chr X:15,419,028...15,423,414
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G |
Gata1 |
GATA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,273,937...15,281,759
Ensembl chr X:15,378,789...15,382,066
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G |
Glod5 |
glyoxalase domain containing 5 |
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ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,225,645...15,240,458
Ensembl chr X:15,225,645...15,240,329
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G |
Gripap1 |
GRIP1 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,523,929...15,553,702
Ensembl chr X:15,523,929...15,553,720
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G |
Hdac6 |
histone deacetylase 6 |
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ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,295,372...15,316,673
Ensembl chr X:15,295,473...15,316,671
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G |
Kcnd1 |
potassium voltage-gated channel subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,506,724...15,520,712
Ensembl chr X:15,506,724...15,520,712
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G |
Otud5 |
OTU deubiquitinase 5 |
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ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,471,212...15,504,372
Ensembl chr X:15,471,211...15,504,165
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G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
|
ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,324,263...15,327,705
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G |
Pim2 |
Pim-2 proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,462,621...15,467,890
Ensembl chr X:15,462,016...15,467,875
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G |
Pqbp1 |
polyglutamine binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,448,570...15,453,130
Ensembl chr X:15,348,138...15,453,130
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G |
Praf2 |
PRA1 domain family, member 2 |
|
ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,618,324...15,620,992
Ensembl chr X:15,618,991...15,620,841
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G |
Slc35a2 |
solute carrier family 35 member A2 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar Annotator: match by OMIM:300896 |
OMIM ClinVar |
PMID:23561849 PMID:24115232 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28492532 PMID:28771251 PMID:29907092 PMID:30817854 |
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NCBI chr X:15,453,184...15,461,990
Ensembl chr X:15,453,186...15,461,713
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G |
Suv39h1 |
suppressor of variegation 3-9 homolog 1 |
|
ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:146,532,002...146,533,538
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G |
Tfe3 |
transcription factor binding to IGHM enhancer 3 |
|
ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,574,579...15,587,826
Ensembl chr X:15,575,934...15,587,419
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G |
Timm17b |
translocase of inner mitochondrial membrane 17b |
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ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,441,369...15,448,452
Ensembl chr X:15,441,651...15,448,403
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G |
Was |
WASP actin nucleation promoting factor |
|
ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,155,246...15,164,099
Ensembl chr X:15,155,230...15,164,105
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G |
Wdr45 |
WD repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
ClinVar |
PMID:28492532 |
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NCBI chr X:15,621,249...15,627,159
Ensembl chr X:15,621,209...15,627,235
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G |
Gad1 |
glutamate decarboxylase 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 |
OMIM ClinVar |
PMID:32282878 |
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NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
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G |
Gabrg2 |
gamma-aminobutyric acid type A receptor subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Dravet syndrome |
ClinVar |
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NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Dravet syndrome ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar OMIM |
PMID:1868258 PMID:1893099 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:16458823 PMID:16505326 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17000989 PMID:17054684 PMID:17054685 PMID:17166794 PMID:17347258 PMID:17561957 PMID:17903680 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18680191 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19359143 PMID:19522081 PMID:19563458 PMID:19585586 PMID:19589774 PMID:19673951 PMID:19782004 PMID:19809937 PMID:20100831 PMID:20110217 PMID:20301494 PMID:20431604 PMID:20452746 PMID:20491869 PMID:20522430 PMID:20550552 PMID:20562086 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:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23934111 PMID:24066114 PMID:24136861 PMID:24168886 PMID:24328833 PMID:24679980 PMID:24776920 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25669891 PMID:25741868 PMID:25741869 PMID:25818041 PMID:25885068 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26467025 PMID:26544041 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27113213 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27781031 PMID:27864847 PMID:28079314 PMID:28102150 PMID:28148630 PMID:28192756 PMID:28202706 PMID:28492532 PMID:28544625 PMID:28708303 PMID:29100083 PMID:29141279 PMID:29358611 PMID:29460957 PMID:29760947 PMID:29852413 PMID:30146492 PMID:30311386 PMID:30321769 PMID:30525188 PMID:30619928 PMID:30659983 PMID:31102827 PMID:31791873 PMID:32238909 PMID:32488064 PMID:32581362 |
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NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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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:21698661 PMID:23895530 PMID:25250524 PMID:25741868 PMID:26467025 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 |
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NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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G |
Snx27 |
sorting nexin 27 |
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ISO |
ClinVar Annotator: match by term: Dravet syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 2:195,738,613...195,821,608
Ensembl chr 2:195,738,619...195,821,608
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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:28492532 PMID:29215089 |
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NCBI chr 3:176,985,900...176,987,797
Ensembl chr 3:176,985,900...176,987,796
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Ak1 |
adenylate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,652,143...11,659,135
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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:28492532 PMID:29215089 |
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NCBI chr 3:176,857,667...176,865,105
Ensembl chr 3:176,859,151...176,865,103
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Arhgef15 |
Rho guanine nucleotide exchange factor 15 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23647072 PMID:25741868 PMID:28492532 |
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NCBI chr10:55,532,097...55,545,675
Ensembl chr10:55,532,077...55,544,429
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Arx |
aristaless related homeobox |
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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:62,363,757...62,376,139
Ensembl chr X:62,363,757...62,376,143
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Cacna2d2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18487195 PMID:23339110 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 |
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NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
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Cdhr5 |
cadherin-related family member 5 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,255,118...214,263,848
Ensembl chr 1:214,255,110...214,263,581
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Cdk9 |
cyclin-dependent kinase 9 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,742,269...11,747,117
Ensembl chr 3:11,742,266...11,747,113
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Cend1 |
cell cycle exit and neuronal differentiation 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,407,072...214,410,069
Ensembl chr 1:214,408,100...214,408,549
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Cercam |
cerebral endothelial cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:8,421,116...8,444,743
Ensembl chr 3:8,430,829...8,444,851
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Cfap157 |
cilia and flagella associated protein 157 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,813,575...11,820,549
Ensembl chr 3:11,813,575...11,820,549
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Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
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Ciz1 |
CDKN1A interacting zinc finger protein 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
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Coq4 |
coenzyme Q4 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:8,349,386...8,357,719
Ensembl chr 3:8,349,185...8,357,871
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Csrnp3 |
cysteine and serine rich nuclear protein 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 |
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NCBI chr 3:51,883,559...52,120,290
Ensembl chr 3:51,883,559...52,120,290
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Cyb561d2 |
cytochrome b561 family, member D2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 8:116,295,328...116,297,879
Ensembl chr 8:116,295,329...116,297,858
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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 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
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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:28492532 PMID:29215089 |
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NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
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Dnm1 |
dynamin 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
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Dpm2 |
dolichyl-phosphate mannosyltransferase subunit 2, regulatory |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,587,941...11,590,528
Ensembl chr 3:11,587,941...11,590,528
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Drd4 |
dopamine receptor D4 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
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Eef1a2 |
eukaryotic translation elongation factor 1 alpha 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
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Eng |
endoglin |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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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 1:214,327,992...214,353,466
Ensembl chr 1:214,328,071...214,353,461
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Fam102a |
family with sequence similarity 102, member A |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,554,084...11,586,315
Ensembl chr 3:11,554,457...11,586,303
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Fndc11 |
fibronectin type III domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:176,721,100...176,724,736
Ensembl chr 3:176,721,827...176,725,837
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Fpgs |
folylpolyglutamate synthase |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,717,667...11,729,694
Ensembl chr 3:11,717,667...11,723,327
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Gabra2 |
gamma-aminobutyric acid type A receptor subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:29422393 |
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NCBI chr14:39,662,411...39,801,082
Ensembl chr14:39,661,968...39,798,302
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 |
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NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412
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Gatd1 |
glutamine amidotransferase like class 1 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 1:214,389,006...214,394,451
Ensembl chr 1:214,389,255...214,394,411
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Gle1 |
GLE1 RNA export mediator |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
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Gmeb2 |
glucocorticoid modulatory element binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:176,756,006...176,791,960
Ensembl chr 3:176,753,860...176,791,960
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Gnao1 |
G protein subunit alpha o1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:26467025 PMID:26485252 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28688840 PMID:28747448 PMID:28817111 PMID:29390993 PMID:32581362 |
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NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
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Golga2 |
golgin A2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,317,328...11,337,569
Ensembl chr 3:11,317,183...11,336,458
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Got2 |
glutamic-oxaloacetic transaminase 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:31422819 |
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NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
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Hcn1 |
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:20437590 PMID:22131395 PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 PMID:28488083 PMID:28492532 |
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NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
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Helz2 |
helicase with zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:176,730,024...176,744,382
Ensembl chr 3:176,731,769...176,744,377
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Hras |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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Irf7 |
interferon regulatory factor 7 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,249,388...214,252,909
Ensembl chr 1:214,248,837...214,252,456
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G |
Kcnb1 |
potassium voltage-gated channel subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and 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:32581362 |
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NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
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G |
Kcnh5 |
potassium voltage-gated channel subfamily H member 5 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532 |
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NCBI chr 6:97,872,831...98,157,087
Ensembl chr 6:97,872,831...98,157,087
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Ohtahara syndrome ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:3360469 PMID:9425895 PMID:9872318 PMID:10482260 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12742592 PMID:12754513 PMID:14534157 PMID:14985406 PMID:15596469 PMID:16039833 PMID:16597729 PMID:16916607 PMID:17475800 PMID:17872363 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:19822871 PMID:20119593 PMID:21685056 PMID:21937445 PMID:22013194 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 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:24811917 PMID:24904429 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25590979 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25951140 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26073431 PMID:26138355 PMID:26148514 PMID:26446091 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26758118 PMID:26993267 PMID:27334371 PMID:27466704 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27781031 PMID:27861786 PMID:27864847 PMID:27888506 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28420012 PMID:28492532 PMID:28602030 PMID:28687180 PMID:28717674 PMID:28867141 PMID:28926830 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29314763 PMID:29390993 PMID:29429461 PMID:29644095 PMID:29655203 PMID:29720203 PMID:29933521 PMID:30109124 PMID:30126342 PMID:30174244 PMID:30185235 PMID:30478917 PMID:31152295 PMID:31199083 PMID:32488064 PMID:32581362 PMID:32860008 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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G |
Lcn2 |
lipocalin 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
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G |
Lime1 |
Lck interacting transmembrane adaptor 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:28492532 PMID:29215089 |
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NCBI chr 3:176,881,881...176,888,230
Ensembl chr 3:176,882,027...176,884,350
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G |
Lmntd2 |
lamin tail domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:214,197,126...214,202,828
Ensembl chr 1:214,196,430...214,202,853
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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 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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G |
Mir210 |
microRNA 210 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,208,355...214,208,464
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|
G |
Mir2964 |
microRNA 2964 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:8,407,427...8,407,526
Ensembl chr 3:8,407,427...8,407,526
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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:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,476,330...11,482,629
Ensembl chr 3:11,476,883...11,481,744
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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:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:8,449,733...8,495,764
Ensembl chr 3:8,450,275...8,496,008
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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 1:214,215,673...214,248,906
Ensembl chr 1:214,215,992...214,248,901
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G |
Pigp |
phosphatidylinositol glycan anchor biosynthesis, class P |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28334793 PMID:31139695 PMID:32042915 |
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NCBI chr11:34,592,128...34,598,253
Ensembl chr11:34,592,121...34,598,275
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|
G |
Pip5kl1 |
phosphatidylinositol-4-phosphate 5-kinase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,592,156...11,597,513
Ensembl chr 3:11,593,655...11,597,410
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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:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
|
NCBI chr 3:176,690,507...176,692,272
Ensembl chr 3:176,691,329...176,692,271
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|
G |
Ptges2 |
prostaglandin E synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,424,195...11,431,379
Ensembl chr 3:11,424,099...11,431,402
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G |
Ptk6 |
protein tyrosine kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:176,698,305...176,706,896
Ensembl chr 3:176,698,305...176,706,896
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G |
Ptrh1 |
peptidyl-tRNA hydrolase 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,811,303...11,817,007
Ensembl chr 3:11,811,962...11,825,640
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G |
Rassf7 |
Ras association domain family member 7 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,202,722...214,205,799
Ensembl chr 1:214,203,861...214,205,782
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G |
RGD1561113 |
similar to Hypothetical UPF0184 protein C9orf16 homolog |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,408,076...11,410,907
Ensembl chr 3:11,408,348...11,410,732
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
|
NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Ohtahara syndrome ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:1868258 PMID:1893099 PMID:9126059 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12535936 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15277629 PMID:15508916 PMID:15694566 PMID:16075041 PMID:16210358 PMID:16458823 PMID:16541393 PMID:16713913 PMID:16713920 PMID:16865694 PMID:17054684 PMID:17054685 PMID:17129991 PMID:17166794 PMID:17347258 PMID:17537961 PMID:17561957 PMID:17679682 PMID:17903680 PMID:18021921 PMID:18056581 PMID:18076640 PMID:18330841 PMID:18413471 PMID:18414213 PMID:18479393 PMID:18554359 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19303743 PMID:19359143 PMID:19400878 PMID:19522081 PMID:19563349 PMID:19585586 PMID:19589774 PMID:19763161 PMID:19782004 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20738378 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21416599 PMID:21425109 PMID:21692795 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21844054 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:23016767 PMID:23086956 PMID:23103419 PMID:23184456 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23934111 PMID:24097157 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24337656 PMID:24472396 PMID:24502503 PMID:24623842 PMID:24656210 PMID:24679980 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25524840 PMID:25576396 PMID:25669891 PMID:25741868 PMID:25818041 PMID:25885068 PMID:26068938 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26252084 PMID:26339958 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27029629 PMID:27066544 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27652284 PMID:27781031 PMID:27864847 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28492532 PMID:28544625 PMID:28708303 PMID:28794249 PMID:28842445 PMID:28951233 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29142202 PMID:29186148 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29760947 PMID:29852413 PMID:30146492 PMID:30182498 PMID:30321769 PMID:30525188 PMID:30558019 PMID:30619928 PMID:30659983 PMID:30977726 PMID:31001185 PMID:31009440 PMID:31791873 PMID:32238909 PMID:32581362 |
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NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 |
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NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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|
G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 |
|
NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
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|
G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
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 |
MouseDO ClinVar |
PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25568300 PMID:25741868 PMID:25785782 PMID:25849321 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235739 PMID:26297079 PMID:26467025 PMID:26647175 PMID:26900580 PMID:26993267 PMID:27210545 PMID:27779742 PMID:27781031 PMID:27864847 PMID:27875746 PMID:27900360 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28702509 PMID:28735751 PMID:28923014 PMID:29100083 PMID:29121005 PMID:29186148 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:30109124 PMID:30171078 PMID:30615093 |
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NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28202706 PMID:28492532 |
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NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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G |
Sct |
secretin |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,264,865...214,277,437
Ensembl chr 1:214,264,754...214,265,668
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G |
Sh2d3c |
SH2 domain containing 3C |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,756,427...11,793,547
Ensembl chr 3:11,756,384...11,793,593
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G |
Slc25a22 |
solute carrier family 25 member 22 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28255779 PMID:28492532 |
|
NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
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G |
Slc25a25 |
solute carrier family 25 member 25 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,442,396...11,476,186
Ensembl chr 3:11,442,397...11,452,529
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G |
Slc27a4 |
solute carrier family 27 member 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
|
|
G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18414213 PMID:18469812 PMID:22258530 PMID:25224718 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26704558 PMID:26865513 PMID:28199897 PMID:28492532 PMID:29264391 PMID:29358611 PMID:29655203 |
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NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
|
|
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:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
|
NCBI chr 3:176,709,742...176,716,146
Ensembl chr 3:176,709,743...176,716,146
|
|
G |
St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18414213 PMID:23252400 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
|
|
G |
St6galnac4 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,607,103...11,619,595
Ensembl chr 3:11,607,225...11,619,593
|
|
G |
St6galnac6 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,620,050...11,641,460
Ensembl chr 3:11,629,556...11,641,466
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|
G |
Stmn3 |
stathmin 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
|
NCBI chr 3:176,808,016...176,816,108
Ensembl chr 3:176,808,017...176,816,162
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|
G |
Stxbp1 |
syntaxin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18414213 PMID:18469812 PMID:19557857 PMID:20876469 PMID:20887364 PMID:21762454 PMID:21770924 PMID:22211739 PMID:22495311 PMID:22722545 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25556537 PMID:25693842 PMID:25714420 PMID:25741868 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26648591 PMID:26795593 PMID:26865513 PMID:26918652 PMID:26993267 PMID:27069701 PMID:27171548 PMID:27184330 PMID:27779742 PMID:28133863 PMID:28387360 PMID:28387369 PMID:28492532 PMID:28628100 PMID:28947817 PMID:29186148 PMID:29264391 PMID:29314583 PMID:29896790 PMID:30109124 PMID:31255830 PMID:31474318 PMID:32238909 PMID:32581362 |
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NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
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G |
Swi5 |
SWI5 homologous recombination repair protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,307,981...11,317,049
Ensembl chr 3:11,307,981...11,317,049
|
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G |
Taldo1 |
transaldolase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
|
|
G |
Tmem80 |
transmembrane protein 80 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:214,317,300...214,326,293
Ensembl chr 1:214,317,682...214,326,294
|
|
G |
Tor2a |
torsin family 2, member A |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,794,731...11,800,261
Ensembl chr 3:11,795,629...11,799,693
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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:28492532 PMID:29215089 |
|
NCBI chr 3:176,989,333...177,009,425
Ensembl chr 3:176,989,672...177,008,419
|
|
G |
Trub2 |
TruB pseudouridine synthase family member 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:8,338,479...8,348,746
Ensembl chr 3:8,338,484...8,348,746
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G |
Ttc16 |
tetratricopeptide repeat domain 16 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,799,788...11,811,600
Ensembl chr 3:11,799,612...11,810,901
|
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 |
|
NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
|
|
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 |
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NCBI chr 8:112,578,607...112,594,192
Ensembl chr 8:112,578,590...112,594,261
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|
G |
Urm1 |
ubiquitin related modifier 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:8,389,024...8,405,868
Ensembl chr 3:8,389,024...8,405,868
|
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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:28492532 PMID:29215089 |
|
NCBI chr 3:176,888,502...176,959,009
Ensembl chr 3:176,890,806...176,958,880
|
|
G |
Zgpat |
zinc finger CCCH-type and G-patch domain containing |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:176,865,078...176,881,603
Ensembl chr 3:176,865,156...176,881,549
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Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr X:115,561,329...115,589,792
Ensembl chr X:115,561,332...115,619,505
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G |
Arx |
aristaless related homeobox |
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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 associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human) ClinVar Annotator: match by OMIM:308350 ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12177367 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12640086 PMID:12874418 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:16523516 PMID:17331656 PMID:17480217 PMID:17641262 PMID:17668384 PMID:18414213 PMID:18462864 PMID:19507262 PMID:19606478 PMID:19738637 PMID:20148114 PMID:20300201 PMID:20384723 PMID:20506206 PMID:21108397 PMID:21204215 PMID:21204226 PMID:21426321 PMID:21496008 PMID:22922607 PMID:23039062 PMID:23246292 PMID:23757202 PMID:24643514 PMID:24781210 PMID:25741868 PMID:26029707 PMID:26337422 PMID:26467025 PMID:28492532 PMID:29152528 PMID:30255221 PMID:32313153, PMID:17664401, PMID:19587282 |
RGD:11565846, RGD:11565838 |
NCBI chr X:62,363,757...62,376,139
Ensembl chr X:62,363,757...62,376,143
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
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Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 |
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NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
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G |
Csnk1e |
casein kinase 1, epsilon |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
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NCBI chr 7:120,651,976...120,675,559
Ensembl chr 7:120,651,881...120,672,359
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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: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
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G |
Gnao1 |
G protein subunit alpha o1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
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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 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
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G |
Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 |
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NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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G |
Maf |
MAF bZIP transcription factor |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29390993 |
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NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
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G |
Napb |
NSF attachment protein beta |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
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NCBI chr 3:143,017,571...143,063,904
Ensembl chr 3:143,020,454...143,063,983
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G |
Nrxn2 |
neurexin 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
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NCBI chr 1:221,792,191...221,908,047
Ensembl chr 1:221,792,221...221,908,049
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G |
Plcb1 |
phospholipase C beta 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
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G |
Pola1 |
DNA polymerase alpha 1, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:62,382,604...62,698,830
Ensembl chr X:62,382,608...62,698,830
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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 |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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G |
Slc35a2 |
solute carrier family 35 member A2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr X:15,453,184...15,461,990
Ensembl chr X:15,453,186...15,461,713
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G |
St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
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G |
Synj1 |
synaptojanin 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
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G |
Szt2 |
SZT2 subunit of KICSTOR complex |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:10574461 PMID:16855591 PMID:18414213 PMID:20727515 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24848745 PMID:25169651 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:28072960 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:29100083 PMID:29358611 PMID:29671961 PMID:30108545 PMID:30180405 PMID:30311386 PMID:30335140 PMID:31112829 PMID:31257402 |
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NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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G |
Wwox |
WW domain-containing oxidoreductase |
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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:11572989 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24456803 PMID:25403906 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25741868 PMID:26467025 PMID:27495153 PMID:27569545 PMID:27717089 PMID:27884173 PMID:28492532 PMID:29358611 PMID:29390993 PMID:29675105 PMID:29852413 PMID:29905011 |
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NCBI chr19:46,761,353...47,695,247
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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 11 ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 ClinVar Annotator: match by OMIM:613721 |
OMIM ClinVar |
PMID:11326335 PMID:11738931 PMID:15028761 PMID:15048894 PMID:17021166 PMID:18414213 PMID:18479388 PMID:19702560 PMID:19786696 PMID:20956790 PMID:22029951 PMID:22581653 PMID:22591750 PMID:23360469 PMID:23550958 PMID:23708187 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:25131622 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26291284 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27328862 PMID:27781031 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28554332 PMID:28628100 PMID:28708303 PMID:29186148 PMID:29215089 PMID:29389947 PMID:29844171 PMID:30165711 PMID:32488064 PMID:32860008 |
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NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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G |
Plcb1 |
phospholipase C beta 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 ClinVar Annotator: match by OMIM:613722 |
OMIM ClinVar |
PMID:9305844 PMID:18414213 PMID:20833646 PMID:22690784 PMID:24684524 PMID:24747189 PMID:25741868 PMID:25950944 PMID:26467025 PMID:26818157 PMID:28492532 |
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NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 |
ClinVar |
PMID:10446192 PMID:11112660 PMID:15381417 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:23708187 PMID:24033266 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27232581 PMID:28492532 PMID:29056246 PMID:29261713 PMID:29498415 PMID:29655203 PMID:29720203 PMID:29924869 PMID:30039206 PMID:31061747 |
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NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
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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 13 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13 ClinVar Annotator: match by OMIM:614558 |
OMIM ClinVar |
PMID:12374766 PMID:15525788 PMID:15800189 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:25725044 PMID:25741868 PMID:25785782 PMID:25799905 PMID:25818041 PMID:25849321 PMID:25914188 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235738 PMID:26235739 PMID:26297079 PMID:26467025 PMID:26647175 PMID:26680202 PMID:26900580 PMID:26993267 PMID:27210545 PMID:27779742 PMID:27864847 PMID:27875746 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28708303 PMID:28735751 PMID:28923014 PMID:29100083 PMID:29186148 PMID:29588952 PMID:29720203 PMID:30171078 PMID:30615093 PMID:32581362 |
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NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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G |
Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,373,971...3,434,027
Ensembl chr 3:3,373,971...3,434,027
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G |
Card9 |
caspase recruitment domain family, member 9 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
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G |
Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,796,480...3,798,467
Ensembl chr 3:3,796,480...3,798,239
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G |
Entr1 |
endosome associated trafficking regulator 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,827,498...3,834,219
Ensembl chr 3:3,827,498...3,834,210
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G |
Gpsm1 |
G-protein signaling modulator 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,767,394...3,794,360
Ensembl chr 3:3,767,394...3,794,359
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 ClinVar Annotator: match by OMIM:614959 |
OMIM ClinVar |
PMID:18414213 PMID:18479385 PMID:23086396 PMID:23086397 PMID:24029078 PMID:24120652 PMID:24319675 PMID:24463883 PMID:24591078 PMID:25042079 PMID:25326635 PMID:25326637 PMID:25339316 PMID:25482562 PMID:25590979 PMID:25741868 PMID:25985138 PMID:26105150 PMID:26122718 PMID:26140313 PMID:26269628 PMID:26369628 PMID:26467025 PMID:26597493 PMID:26648591 PMID:26740507 PMID:26786403 PMID:26993267 PMID:27029629 PMID:27064559 PMID:27081515 PMID:27159321 PMID:27652284 PMID:27779742 PMID:28366665 PMID:28492532 PMID:28554332 PMID:28973083 PMID:28987752 PMID:29100083 PMID:29186148 PMID:29196579 PMID:29314583 PMID:29358611 PMID:29390993 PMID:29422393 PMID:30182418 PMID:30868116 |
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NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
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G |
Lhx3 |
LIM homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
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G |
Nacc2 |
NACC family member 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,508,084...3,574,787
Ensembl chr 3:3,510,041...3,574,787
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,834,262...3,842,061
Ensembl chr 3:3,834,078...3,842,078
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G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,662,324...3,691,972
Ensembl chr 3:3,662,324...3,691,972
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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 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,856,218...3,890,785
Ensembl chr 3:3,856,218...3,890,758
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G |
Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,808,596...3,827,425
Ensembl chr 3:3,809,407...3,824,284
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G |
Tmem250 |
transmembrane protein 250 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,590,783...3,594,475
Ensembl chr 3:3,590,783...3,594,475
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G |
Ubac1 |
UBA domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,453,396...3,476,242
Ensembl chr 3:3,453,401...3,476,215
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G |
St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 15 ClinVar Annotator: match by term: Epilepsy due to perinatal stroke |
OMIM ClinVar |
PMID:23252400 PMID:25741868 PMID:28492532 PMID:30089820 |
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NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16 |
OMIM ClinVar |
PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:25169651 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26371875 PMID:27281533 PMID:28292732 PMID:28428906 PMID:28492532 |
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NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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G |
Gnao1 |
G protein subunit alpha o1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 17 ClinVar Annotator: match by OMIM:615473 |
OMIM ClinVar |
PMID:18414213 PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28688840 PMID:28747448 PMID:29961512 PMID:32581362 |
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NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
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G |
Szt2 |
SZT2 subunit of KICSTOR complex |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18 ClinVar Annotator: match by OMIM:615476 |
OMIM ClinVar |
PMID:23932106 PMID:25741868 PMID:28492532 PMID:29358611 PMID:30564332 PMID:30818181 |
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NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
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G |
Gabra1 |
gamma-aminobutyric acid type A receptor subunit alpha 1 |
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ISO |
ClinVar Annotator: match by OMIM:615744 ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 19 |
ClinVar OMIM |
PMID:18414213 PMID:24623842 PMID:25741868 PMID:26918889 PMID:27353043 PMID:27521439 PMID:28492532 PMID:29389947 PMID:32238909 |
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NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
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G |
Bend2 |
BEN domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:35,151,376...35,200,501
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
severity |
ISO |
ClinVar Annotator: match by OMIM:300672 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2 DNA:mutations:cds: |
ClinVar OMIM |
PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16326141 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17993579 PMID:18063413 PMID:18076117 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:19780792 PMID:19793311 PMID:19807736 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: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:23828526 PMID:23934111 PMID:24564546 PMID:24715584 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26467025 PMID:26482601 PMID:27081548 PMID:27187038 PMID:27848944 PMID:28492532 PMID:28837158 PMID:29190809 PMID:29264392 PMID:29390993 PMID:29420175 PMID:29444904 PMID:29655203 PMID:30776697 PMID:31042466 PMID:31791873, PMID:22678952 |
RGD:12791015 |
NCBI chr X:35,536,396...35,773,204
Ensembl chr X:35,599,258...35,771,711
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G |
Nhs |
NHS actin remodeling regulator |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:34,312,102...34,675,912
Ensembl chr X:34,623,405...34,673,742
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G |
Rai2 |
retinoic acid induced 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:34,731,891...34,794,589
Ensembl chr X:34,731,891...34,794,589
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2 |
ClinVar |
PMID:15499549 PMID:16813600 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:23184456 PMID:23242510 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29264392 PMID:29655203 |
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NCBI chr X:35,749,957...35,777,243
Ensembl chr X:35,749,957...35,777,243
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G |
Scml1 |
Scm polycomb group protein like 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:34,676,728...34,694,251
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G |
Scml2 |
Scm polycomb group protein like 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:35,305,235...35,431,271
Ensembl chr X:35,305,236...35,431,164
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G |
C3ar1 |
complement C3a receptor 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
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G |
Clec4b2 |
C-type lectin domain family 4, member B2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:156,107,720...156,131,226
Ensembl chr 4:156,107,620...156,131,583
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G |
Dppa3 |
developmental pluripotency-associated 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,437,675...155,441,059
Ensembl chr 3:111,298,713...111,299,189 Ensembl chr 4:111,298,713...111,299,189
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G |
Foxj2 |
forkhead box J2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,653,446...155,679,815
Ensembl chr 4:155,653,718...155,679,793
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G |
Gdf3 |
growth differentiation factor 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
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G |
Nanog |
Nanog homeobox |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,531,906...155,539,268
Ensembl chr 4:155,531,906...155,539,268
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G |
Necap1 |
NECAP endocytosis associated 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 |
OMIM ClinVar |
PMID:24399846 PMID:25558065 PMID:25741868 PMID:28492532 PMID:30525121 PMID:30626896 |
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NCBI chr 4:155,709,712...155,724,801
Ensembl chr 4:155,709,613...155,724,790
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G |
Slc2a3 |
solute carrier family 2 member 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
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G |
Dock7 |
dedicator of cytokinesis 7 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 23 ClinVar Annotator: match by OMIM:615859 |
OMIM ClinVar |
PMID:24814191 PMID:25363768 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 5:117,595,194...117,780,844
Ensembl chr 5:117,596,136...117,780,777
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G |
Hcn1 |
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 24 |
ClinVar OMIM |
PMID:24747641 PMID:25741868 PMID:28492532 PMID:30351409 |
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NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
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G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 |
ClinVar |
PMID:28492532 |
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NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
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G |
LOC100912483 |
uncharacterized LOC100912483 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 |
ClinVar |
PMID:28492532 |
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NCBI chr10:58,784,444...58,787,713
Ensembl chr10:58,784,660...58,785,043
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G |
Med31 |
mediator complex subunit 31 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 |
ClinVar |
PMID:28492532 |
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NCBI chr10:58,780,987...58,784,369
Ensembl chr10:58,780,597...58,784,374
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G |
Pimreg |
PICALM interacting mitotic regulator |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 |
ClinVar |
PMID:28492532 |
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NCBI chr10:58,613,588...58,618,524
Ensembl chr10:58,613,674...58,618,514
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G |
Pitpnm3 |
PITPNM family member 3 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 |
ClinVar |
PMID:28492532 |
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NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
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G |
RGD1304728 |
similar to 4933427D14Rik protein |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 |
ClinVar |
PMID:28492532 |
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NCBI chr10:58,726,721...58,776,718
Ensembl chr10:58,729,306...58,771,908
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G |
Slc13a5 |
solute carrier family 13 member 5 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 |
ClinVar OMIM |
PMID:18414213 PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:26467025 PMID:26960556 PMID:27261973 PMID:27600704 PMID:27913086 PMID:28492532 PMID:28673551 PMID:30054523 |
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NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
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G |
Txndc17 |
thioredoxin domain containing 17 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25 |
ClinVar |
PMID:28492532 |
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NCBI chr10:58,776,792...58,779,764
Ensembl chr10:58,776,792...58,779,764
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G |
Arfgef2 |
ADP ribosylation factor guanine nucleotide exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,570,435...163,656,612
Ensembl chr 3:163,570,532...163,656,626
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G |
Cse1l |
chromosome segregation 1 like |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,664,074...163,702,074
Ensembl chr 3:163,664,136...163,702,060
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G |
Ddx27 |
DEAD-box helicase 27 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,767,236...163,786,408
Ensembl chr 3:163,767,173...163,786,445
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G |
Kcnb1 |
potassium voltage-gated channel subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 ClinVar Annotator: match by term: KCNB1-related disorder |
ClinVar OMIM |
PMID:8698327 PMID:25131622 PMID:25164438 PMID:25741868 PMID:26467025 PMID:26477325 PMID:26648591 PMID:27652284 PMID:28252636 PMID:28492532 PMID:28806457 PMID:29264397 PMID:31791873 PMID:32581362 |
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NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
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G |
Stau1 |
staufen double-stranded RNA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,703,204...163,748,996
Ensembl chr 3:163,703,204...163,748,996
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G |
Znfx1 |
zinc finger, NFX1-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:163,787,101...163,847,671
Ensembl chr 3:163,787,101...163,847,671
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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: Epileptic encephalopathy, early infantile, 27 |
OMIM ClinVar |
PMID:18414213 PMID:23408766 PMID:24272827 PMID:24759409 PMID:25326635 PMID:25356899 PMID:25741868 PMID:26350515 PMID:26467025 PMID:27572814 PMID:27818011 PMID:27839871 PMID:28191890 PMID:28377535 PMID:28492532 PMID:28554332 PMID:28708303 PMID:28856709 PMID:30217972 |
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NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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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:28492532 |
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NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
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G |
Ncf2 |
neutrophil cytosolic factor 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 |
ClinVar |
PMID:16937026 PMID:23821607 PMID:25741868 PMID:28492532 |
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NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
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G |
Wwox |
WW domain-containing oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 |
ClinVar OMIM |
PMID:24456803 PMID:25411445 PMID:25558065 PMID:25741868 PMID:27717089 PMID:28492532 PMID:29358611 PMID:29808465 PMID:29852413 PMID:30853297 |
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NCBI chr19:46,761,353...47,695,247
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G |
Aars1 |
alanyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 29 |
OMIM ClinVar |
PMID:25741868 PMID:25817015 PMID:28492532 PMID:28493438 PMID:29653220 |
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NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
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G |
Slc25a22 |
solute carrier family 25 member 22 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
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G |
Agpat3 |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,060,584...11,144,806
Ensembl chr20:11,114,164...11,144,806
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G |
Cstb |
cystatin B |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
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G |
Gatd3a |
glutamine amidotransferase like class 1 domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,244,353...11,252,450
Ensembl chr20:11,244,353...11,252,449
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G |
Hsf2bp |
heat shock transcription factor 2 binding protein |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,757,172...10,844,177
Ensembl chr20:10,757,854...10,844,178
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G |
Pwp2 |
PWP2, small subunit processome component |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,228,892...11,243,204
Ensembl chr20:11,228,844...11,243,205
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G |
Rrp1 |
ribosomal RNA processing 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,982,016...10,993,260
Ensembl chr20:10,981,998...10,993,280
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G |
Rrp1b |
ribosomal RNA processing 1B |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,844,234...10,869,830
Ensembl chr20:10,844,266...10,869,821
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G |
Sik1 |
salt-inducible kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 |
ClinVar OMIM |
PMID:25741868 PMID:25839329 PMID:26467025 PMID:28492532 PMID:30315573 |
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NCBI chr20:10,670,747...10,680,279
Ensembl chr20:10,668,411...10,680,283
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G |
Trappc10 |
trafficking protein particle complex 10 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
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G |
Ciz1 |
CDKN1A interacting zinc finger protein 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
ClinVar |
PMID:8335685 PMID:10608808 PMID:11031245 PMID:11553700 PMID:19084268 PMID:23977156 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28667181 PMID:29668686 |
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NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
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G |
Dnm1 |
dynamin 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 |
OMIM ClinVar |
PMID:8335685 PMID:10608808 PMID:11031245 PMID:11553700 PMID:19084268 PMID:23781021 PMID:23977156 PMID:25262651 PMID:25533962 PMID:25741868 PMID:25741869 PMID:26467025 PMID:26611353 PMID:27476654 PMID:27806796 PMID:28492532 PMID:28667181 PMID:29314763 PMID:29427836 PMID:29668686 |
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NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
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G |
Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 |
OMIM ClinVar |
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:18414213 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:25950944 PMID:26467025 PMID:26599217 PMID:27062609 PMID:27457812 PMID:27543892 PMID:27733563 PMID:28032718 PMID:28204960 PMID:28492532 |
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NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
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G |
Eef1a2 |
eukaryotic translation elongation factor 1 alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar Annotator: match by term: EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy |
OMIM ClinVar |
PMID:3066688 PMID:18414213 PMID:23033978 PMID:23647072 PMID:24697219 PMID:25326326 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26633542 PMID:26682508 PMID:26795593 PMID:27441201 PMID:28135719 PMID:28378778 PMID:28492532 PMID:28911200 |
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NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:27441201 PMID:28492532 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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G |
Ppdpf |
pancreatic progenitor cell differentiation and proliferation factor |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:176,690,507...176,692,272
Ensembl chr 3:176,691,329...176,692,271
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G |
Slc12a5 |
solute carrier family 12 member 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34 |
OMIM ClinVar |
PMID:24668262 PMID:24928908 PMID:25741868 PMID:26333769 PMID:27436767 PMID:27535533 PMID:28492532 PMID:30763027 |
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NCBI chr 3:161,433,303...161,465,078
Ensembl chr 3:161,425,988...161,462,879
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Itpa |
inosine triphosphatase |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 35 |
OMIM ClinVar |
PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165 |
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NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
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Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
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ISO |
ClinVar Annotator: match by term: CDG Is ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is ClinVar Annotator: match by OMIM:300884 |
OMIM ClinVar |
PMID:22492991 PMID:23033978 PMID:23934111 PMID:24476948 PMID:24781210 PMID:24896178 PMID:25732998 PMID:25741868 PMID:26138355 PMID:26467025 PMID:26482601 PMID:28492532 PMID:28940310 PMID:32238909 PMID:32681751 |
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NCBI chr X:115,561,329...115,589,792
Ensembl chr X:115,561,332...115,619,505
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Dcx |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 |
ClinVar |
PMID:28492532 |
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NCBI chr X:115,098,675...115,175,515
Ensembl chr X:115,098,675...115,175,299
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Frrs1l |
ferric-chelate reductase 1-like |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 |
ClinVar OMIM |
PMID:21147040 PMID:25741868 PMID:27236917 PMID:27239025 PMID:28492532 PMID:30525197 PMID:30692144 PMID:32860008 |
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NCBI chr 5:73,997,958...74,029,381
Ensembl chr 5:74,000,227...74,029,238
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Arv1 |
ARV1 homolog, fatty acid homeostasis modulator |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 38 |
ClinVar OMIM |
PMID:25558065 PMID:25741868 PMID:27270415 PMID:32165008 |
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NCBI chr19:57,484,720...57,496,539
Ensembl chr19:57,484,634...57,496,695
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Slc25a12 |
solute carrier family 25 member 12 |
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ISO |
ClinVar Annotator: match by term: Hypomyelination, global cerebral ClinVar Annotator: match by OMIM:612949 |
OMIM ClinVar |
PMID:19641205 PMID:24515575 PMID:24973975 PMID:25741868 PMID:28492532 |
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NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 |
ClinVar |
PMID:25741868 |
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NCBI chr X:35,536,396...35,773,204
Ensembl chr X:35,599,258...35,771,711
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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: Early infantile epileptic encephalopathy 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
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G |
Niban2 |
niban apoptosis regulator 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:11,921,715...11,971,327
Ensembl chr 3:11,921,715...11,971,327
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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 DNA:deletion, missense mutations:exon:multiple DNA:deletions, nonsense mutation, splice-site mutations:exon, intron:multiple ClinVar Annotator: match by OMIM:612164 |
OMIM ClinVar |
PMID:18414213 PMID:18469812 PMID:19557857 PMID:20887364 PMID:21762454 PMID:21770924 PMID:22495311 PMID:22612257 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23858467 PMID:23934111 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25284778 PMID:25326635 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25693842 PMID:25714420 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26740508 PMID:26795593 PMID:26865513 PMID:26993267 PMID:27069701 PMID:27184330 PMID:27779742 PMID:28133863 PMID:28492532 PMID:29264391 PMID:29389947 PMID:31255830 PMID:31474318 PMID:32238909, PMID:18469812, PMID:20876469 |
RGD:12903960, RGD:11068998 |
NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
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Guf1 |
GTP binding elongation factor GUF1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 40 |
ClinVar OMIM |
PMID:26486472 |
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NCBI chr14:62,609,484...62,628,862
Ensembl chr14:62,609,484...62,628,862
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G |
Slc1a2 |
solute carrier family 1 member 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 41 |
ClinVar OMIM |
PMID:23107647 PMID:23934111 PMID:24214974 PMID:25741868 PMID:27476654 PMID:28777935 |
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NCBI chr 3:92,518,679...92,665,731
Ensembl chr 3:92,640,752...92,665,644
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 |
ClinVar OMIM |
PMID:8898206 PMID:9329229 PMID:10408532 PMID:16043807 PMID:16325861 PMID:16787562 PMID:17292920 PMID:17588611 PMID:18354422 PMID:18644040 PMID:19811514 PMID:20080591 PMID:20097664 PMID:20156848 PMID:20301674 PMID:21183743 PMID:21703448 PMID:21734179 PMID:22249839 PMID:22784462 PMID:23183922 PMID:23397224 PMID:23831250 PMID:23869231 PMID:23934111 PMID:24033266 PMID:24108129 PMID:24486772 PMID:24996492 PMID:25326635 PMID:25356970 PMID:25481746 PMID:25596066 PMID:25741868 PMID:25758715 PMID:25851414 PMID:26467025 PMID:26716990 PMID:26814174 PMID:27066515 PMID:27476654 PMID:28007337 PMID:28455667 PMID:28492532 PMID:28540055 PMID:28742085 PMID:29056246 PMID:29100083 PMID:30011838 PMID:30167989 PMID:30283815 PMID:31468518 PMID:31487502 PMID:32238909 PMID:32860008 PMID:97053792 |
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NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
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G |
Dpyd |
dihydropyrimidine dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
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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: Epileptic encephalopathy, early infantile, 43 |
ClinVar OMIM |
PMID:23934111 PMID:25741868 PMID:28492532 |
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NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
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G |
Uba5 |
ubiquitin-like modifier activating enzyme 5 |
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ISO |
ClinVar Annotator: match by OMIM:617132 ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 44 |
ClinVar OMIM |
PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 |
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NCBI chr 8:112,578,607...112,594,192
Ensembl chr 8:112,578,590...112,594,261
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G |
Gabrb1 |
gamma-aminobutyric acid type A receptor subunit beta1 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 45 |
ClinVar OMIM |
PMID:23934111 PMID:25741868 PMID:26950270 PMID:27273810 PMID:31618474 |
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NCBI chr14:38,631,192...39,112,598
Ensembl chr14:38,643,385...39,112,600
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G |
Grin2d |
glutamate ionotropic receptor NMDA type subunit 2D |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 46 |
ClinVar OMIM |
PMID:25741868 PMID:27616483 PMID:30280376 PMID:32860008 |
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NCBI chr 1:101,819,068...101,859,146
Ensembl chr 1:101,820,461...101,856,881
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G |
Fgf12 |
fibroblast growth factor 12 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 47 |
ClinVar OMIM |
PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 |
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NCBI chr11:75,606,360...76,171,078
Ensembl chr11:75,905,443...76,168,989
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G |
Ap3b2 |
adaptor related protein complex 3 subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 48 |
ClinVar OMIM |
PMID:18414213 PMID:25741868 PMID:27431290 PMID:27889060 |
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NCBI chr 1:143,284,041...143,315,846
Ensembl chr 1:143,283,996...143,315,633
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G |
Dennd5a |
DENN domain containing 5A |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49 ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 49 |
ClinVar OMIM |
PMID:25741868 PMID:27431290 PMID:27866705 |
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NCBI chr 1:174,524,047...174,588,553
Ensembl chr 1:174,524,047...174,588,529
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G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 5 ClinVar Annotator: match by OMIM:613477 |
OMIM ClinVar |
PMID:18414213 PMID:20493457 PMID:22258530 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28492532 PMID:29358611 PMID:31474318 PMID:32963807 |
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NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 50 ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1z |
OMIM ClinVar |
PMID:25678555 PMID:25741868 PMID:28007989 PMID:28492532 |
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NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
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G |
Mdh2 |
malate dehydrogenase 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 51 |
ClinVar OMIM |
PMID:25741868 PMID:27989324 |
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NCBI chr12:23,941,451...23,954,406
Ensembl chr12:23,941,448...23,954,431
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G |
Scn1b |
sodium voltage-gated channel beta subunit 1 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 |
ClinVar OMIM |
PMID:19710327 PMID:21994374 PMID:22155597 PMID:22155598 PMID:22284586 PMID:22840528 PMID:23148524 PMID:23414114 PMID:23465283 PMID:23861362 PMID:24033266 PMID:25253298 PMID:25741868 PMID:26498160 PMID:27435932 PMID:27896052 PMID:28218389 PMID:28341588 PMID:28492532 PMID:28837624 PMID:29758173 |
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NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
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G |
Synj1 |
synaptojanin 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 53 |
OMIM ClinVar |
PMID:25741868 PMID:27435091 PMID:28492532 PMID:32214227 |
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NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
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G |
Hnrnpu |
heterogeneous nuclear ribonucleoprotein U |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 54 |
ClinVar OMIM |
PMID:25356899 PMID:25741868 PMID:26467025 PMID:27652284 PMID:28492532 PMID:28815871 PMID:28944577 PMID:29170628 PMID:32488064 |
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NCBI chr13:96,222,093...96,238,845
Ensembl chr13:96,225,912...96,238,572
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G |
Pigp |
phosphatidylinositol glycan anchor biosynthesis, class P |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55 |
ClinVar OMIM |
PMID:28334793 PMID:31139695 PMID:32042915 |
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NCBI chr11:34,592,128...34,598,253
Ensembl chr11:34,592,121...34,598,275
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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: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 |
ClinVar OMIM |
PMID:23934111 PMID:25741868 PMID:28777935 |
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NCBI chr12:23,789,547...23,817,884
Ensembl chr12:23,789,638...23,817,883
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G |
Kcnt2 |
potassium sodium-activated channel subfamily T member 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57 ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57 |
ClinVar OMIM |
PMID:24166878 PMID:25741868 PMID:26724206 PMID:29069600 PMID:29314763 PMID:29740868 PMID:32038177 PMID:32773162 |
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NCBI chr13:57,130,855...57,520,263
Ensembl chr13:57,131,395...57,521,836
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G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 |
OMIM ClinVar |
PMID:25741868 PMID:29100083 |
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NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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G |
Gabbr2 |
gamma-aminobutyric acid type B receptor subunit 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 59 |
ClinVar OMIM |
PMID:25262651 PMID:25741868 PMID:28492532 PMID:28856709 PMID:29100083 PMID:32860008 |
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NCBI chr 5:62,276,100...62,621,737
Ensembl chr 5:62,276,100...62,621,737
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G |
Cnpy3 |
canopy FGF signaling regulator 3 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60 |
ClinVar OMIM |
PMID:25741868 PMID:29394991 |
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NCBI chr 9:16,543,715...16,558,441
Ensembl chr 9:16,543,688...16,558,456
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G |
Adam22 |
ADAM metallopeptidase domain 22 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 61 |
ClinVar OMIM |
PMID:27066583 |
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NCBI chr 4:22,864,485...23,002,969
Ensembl chr 4:22,859,622...22,996,645
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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 62 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29466837 PMID:29740860 |
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NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
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G |
Cplx1 |
complexin 1 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 |
ClinVar OMIM |
PMID:25741868 PMID:26539891 PMID:28422131 |
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NCBI chr14:2,194,895...2,226,610
Ensembl chr14:2,194,933...2,226,598
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G |
Cyfip2 |
cytoplasmic FMR1 interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 |
ClinVar OMIM |
PMID:21107423 PMID:25741868 PMID:25741869 PMID:25741870 PMID:26582918 PMID:29534297 PMID:30664714 |
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NCBI chr10:31,278,746...31,419,235
Ensembl chr10:31,278,746...31,419,235
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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 |
OMIM ClinVar |
PMID:25741868 PMID:28628100 PMID:28867141 PMID:29656858 |
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NCBI chr 6:137,824,136...137,889,144
Ensembl chr 6:137,824,213...137,887,418
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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 7 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7 ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome ClinVar Annotator: match by OMIM:613720 |
OMIM ClinVar |
PMID:9425895 PMID:9430594 PMID:11572947 PMID:12742592 PMID:12754513 PMID:12847176 PMID:15030501 PMID:15249611 PMID:16039833 PMID:16260777 PMID:16916607 PMID:16966552 PMID:17475800 PMID:17872363 PMID:18353052 PMID:18414213 PMID:19453707 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:24759409 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:25982755 PMID:26007637 PMID:26138355 PMID:26446091 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26993267 PMID:27334371 PMID:27479843 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27864847 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28492532 PMID:28503627 PMID:28602030 PMID:28687180 PMID:28867141 PMID:28973083 PMID:29190809 PMID:29314763 PMID:29390993 PMID:29644095 PMID:29655203 PMID:30109124 PMID:30174244 PMID:30185235 PMID:31105003 PMID:31199083 PMID:32488064 PMID:32581362 PMID:32585800 PMID:32860008 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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G |
Nexmif |
neurite extension and migration factor |
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ISO |
ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome |
ClinVar |
PMID:25741868 PMID:27358180 PMID:28492532 PMID:29693785 |
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NCBI chr X:74,943,440...75,053,559
Ensembl chr X:74,945,082...74,968,405
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G |
Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 8 ClinVar Annotator: match by OMIM:300607 |
OMIM ClinVar |
PMID:15215304 PMID:17893116 PMID:18414213 PMID:18615734 PMID:21633362 PMID:21731583 PMID:23033978 PMID:25678704 PMID:25741868 PMID:26467025 PMID:26834553 PMID:28492532 PMID:28589176 PMID:28708303 PMID:32860008 |
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NCBI chr X:64,249,576...64,428,444
Ensembl chr X:64,248,278...64,428,592
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G |
Got2 |
glutamic-oxaloacetic transaminase 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 |
OMIM ClinVar |
PMID:25741868 PMID:31422819 |
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NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
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Pcdh19 |
protocadherin 19 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME ClinVar Annotator: match by OMIM:300088 |
OMIM ClinVar |
PMID:2267240 PMID:5116697 PMID:18234694 PMID:18414213 PMID:18469813 PMID:19214208 PMID:19377476 PMID:19752159 PMID:20713952 PMID:21053371 PMID:21480887 PMID:21519002 PMID:21777234 PMID:22050978 PMID:22267240 PMID:22504056 PMID:22848613 PMID:22946748 PMID:22949144 PMID:23066759 PMID:23334464 PMID:23712037 PMID:23808377 PMID:25326635 PMID:25499160 PMID:25741868 PMID:26467025 PMID:26544041 PMID:26765483 PMID:26954813 PMID:26993267 PMID:27143072 PMID:27179713 PMID:27527380 PMID:27787195 PMID:28492532 PMID:28669061 PMID:28837158 PMID:29056246 PMID:29358611 PMID:29377098 PMID:29655203 PMID:29933145 PMID:29933521 PMID:30287595 PMID:30530412 PMID:30828795 PMID:31319225 |
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NCBI chr X:104,387,346...104,493,914
Ensembl chr X:104,391,607...104,493,757
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Srpx2 |
sushi-repeat-containing protein, X-linked 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 |
ClinVar |
PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 |
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NCBI chr X:104,734,035...104,760,658
Ensembl chr X:104,734,082...104,760,547
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Tnmd |
tenomodulin |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 |
ClinVar |
PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 |
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NCBI chr X:104,684,676...104,700,173
Ensembl chr X:104,684,676...104,700,173
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Tspan6 |
tetraspanin 6 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 |
ClinVar |
PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 |
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NCBI chr X:104,719,930...104,729,606
Ensembl chr X:104,719,940...104,726,816
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Rhobtb2 |
Rho-related BTB domain containing 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 |
ClinVar OMIM |
PMID:18298893 PMID:18835386 PMID:25741868 PMID:26740508 PMID:28492532 PMID:29276004 PMID:29768694 PMID:32581362 |
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NCBI chr15:51,465,148...51,485,562
Ensembl chr15:51,465,148...51,485,692
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Cux2 |
cut-like homeobox 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 |
OMIM ClinVar |
PMID:20404132 PMID:23020937 PMID:25741868 PMID:28628100 PMID:29630738 PMID:29795476 |
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NCBI chr12:40,016,774...40,221,067
Ensembl chr12:40,018,937...40,219,291
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Sh2b3 |
SH2B adaptor protein 3 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 |
ClinVar |
PMID:20404132 |
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NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
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Trak1 |
trafficking kinesin protein 1 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 |
ClinVar OMIM |
PMID:25741868 PMID:28364549 PMID:28940097 PMID:29846532 |
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NCBI chr 8:129,946,596...130,106,382
Ensembl chr 8:130,009,573...130,106,382
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Cacna1e |
calcium voltage-gated channel subunit alpha1 E |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 |
ClinVar OMIM |
PMID:17660294 PMID:23934111 PMID:25741868 PMID:30343943 |
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NCBI chr13:71,899,445...72,534,992
Ensembl chr13:71,906,702...72,367,980
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Phactr1 |
phosphatase and actin regulator 1 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 |
ClinVar OMIM |
PMID:23033978 PMID:25741868 PMID:30256902 |
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NCBI chr17:23,245,423...23,761,207
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Tbc1d7 |
TBC1 domain family, member 7 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 |
ClinVar |
PMID:23033978 PMID:30256902 |
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NCBI chr17:23,774,793...23,792,389
Ensembl chr17:23,775,220...23,792,353
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Gls |
glutaminase |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71 |
OMIM ClinVar |
PMID:25741868 PMID:30575854 |
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NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872
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Neurod2 |
neuronal differentiation 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72 |
OMIM ClinVar |
PMID:30323019 |
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NCBI chr10:86,280,865...86,282,681
Ensembl chr10:86,280,892...86,282,693
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Rnf13 |
ring finger protein 13 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 73 |
OMIM ClinVar |
PMID:30595371 |
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NCBI chr 2:147,853,423...147,948,277
Ensembl chr 2:147,853,423...148,039,132
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Gabrg2 |
gamma-aminobutyric acid type A receptor subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74 |
OMIM ClinVar |
PMID:23708187 PMID:25726841 PMID:25730860 PMID:25741868 PMID:27864268 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 |
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NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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Pars2 |
prolyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 |
OMIM ClinVar |
PMID:22237560 PMID:25629079 PMID:25705216 PMID:25741868 PMID:27290639 PMID:28077841 PMID:29410512 PMID:29915213 PMID:30237576 PMID:32165824 |
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NCBI chr 5:126,254,090...126,259,204
Ensembl chr 5:126,254,142...126,259,200
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Actl6b |
actin-like 6B |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 |
ClinVar OMIM |
PMID:25741868 PMID:26539891 PMID:30237576 PMID:30656450 PMID:31031012 |
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NCBI chr12:22,194,595...22,211,107
Ensembl chr12:22,194,618...22,211,080
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Pigq |
phosphatidylinositol glycan anchor biosynthesis, class Q |
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ISO |
ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77 |
OMIM ClinVar |
PMID:24463883 PMID:25558065 PMID:25741868 PMID:27513193 PMID:28492532 PMID:31148362 |
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NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
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Gabra2 |
gamma-aminobutyric acid type A receptor subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78 |
OMIM ClinVar |
PMID:25741868 PMID:29422393 PMID:29961870 PMID:31032849 |
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NCBI chr14:39,662,411...39,801,082
Ensembl chr14:39,661,968...39,798,302
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Gabra5 |
gamma-aminobutyric acid type A receptor subunit alpha 5 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79 |
OMIM ClinVar |
PMID:29961870 PMID:31056671 |
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NCBI chr 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451
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Ccpg1 |
cell cycle progression 1 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 |
ClinVar |
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NCBI chr 8:79,660,634...79,692,044
Ensembl chr 8:79,660,657...79,692,039
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Pigb |
phosphatidylinositol glycan anchor biosynthesis, class B |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 |
OMIM ClinVar |
PMID:17343268 PMID:25326635 PMID:25741868 PMID:31256876 |
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NCBI chr 8:79,691,407...79,715,284
Ensembl chr 8:79,691,407...79,715,284
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Pigbos1 |
PIGB opposite strand 1 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 |
ClinVar |
PMID:17343268 PMID:31256876 |
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NCBI chr 8:79,715,337...79,719,706
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Dmxl2 |
Dmx-like 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81 |
ClinVar OMIM |
PMID:30237576 PMID:31688942 |
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NCBI chr 8:58,932,575...59,077,788
Ensembl chr 8:58,932,580...59,077,690
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Ugp2 |
UDP-glucose pyrophosphorylase 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83 |
ClinVar OMIM |
PMID:31820119 |
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NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539
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Ugdh |
UDP-glucose 6-dehydrogenase |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84 |
OMIM ClinVar |
PMID:25741868 PMID:32001716 PMID:32860008 |
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NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
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Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS |
OMIM ClinVar |
PMID:25741868 PMID:26358754 PMID:26386245 PMID:26752331 PMID:28166369 PMID:30158690 PMID:31334757 |
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NCBI chr X:21,710,976...21,755,708
Ensembl chr X:21,711,019...21,755,525
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Dalrd3 |
DALR anticodon binding domain containing 3 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86 |
OMIM ClinVar |
PMID:32427860 |
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NCBI chr 8:117,355,943...117,358,819
Ensembl chr 8:117,355,943...117,358,818
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Amd1 |
adenosylmethionine decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87 |
ClinVar |
PMID:25741868 PMID:32330417 |
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NCBI chr20:45,384,000...45,399,694
Ensembl chr20:45,384,000...45,399,694
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Cdk19 |
cyclin-dependent kinase 19 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87 |
OMIM ClinVar |
PMID:25741868 PMID:32330417 |
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NCBI chr20:45,458,499...45,598,799
Ensembl chr20:45,458,558...45,598,798
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Mdh1 |
malate dehydrogenase 1 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88 |
ClinVar OMIM |
PMID:31538237 |
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NCBI chr14:106,378,349...106,393,642
Ensembl chr14:106,378,942...106,393,670
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Jmjd1c |
jumonji domain containing 1C |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:22495311 PMID:26181491 PMID:28492532 |
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NCBI chr20:22,751,743...22,914,080
Ensembl chr20:22,751,743...22,882,672
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Kcnd2 |
potassium voltage-gated channel subfamily D member 2 |
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ISO |
ClinVar Annotator: match by term: Early myoclonic encephalopathy |
ClinVar |
PMID:24501278 PMID:28492532 PMID:29581270 |
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NCBI chr 4:48,309,283...48,816,804
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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 |
PMID:10521305 PMID:10742094 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:12086636 PMID:12610651 PMID:12821740 PMID:14702334 PMID:14738421 PMID:16541393 PMID:17054684 PMID:17347258 PMID:17561957 PMID:18021921 PMID:18056581 PMID:18413471 PMID:18414213 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19359143 PMID:19522081 PMID:19589774 PMID:19782004 PMID:20431604 PMID:20522430 PMID:20729507 PMID:20879882 PMID:21396429 PMID:21713554 PMID:21906962 PMID:22150645 PMID:22550089 PMID:22612257 PMID:22780858 PMID:23195492 PMID:23398611 PMID:23884151 PMID:24066114 PMID:24136861 PMID:24168886 PMID:25741868 PMID:26096185 PMID:26467025 PMID:26544041 PMID:26845707 PMID:26990884 PMID:27236449 PMID:27864847 PMID:28192756 PMID:28492532 PMID:29100083 PMID:29358611 PMID:30311386 |
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NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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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:24596948 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28492532 |
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NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
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Tbc1d24 |
TBC1 domain family, member 24 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile |
ClinVar |
PMID:24033266 PMID:25741868 PMID:25769375 PMID:26371875 PMID:27281533 PMID:28292732 PMID:28428906 PMID:28492532 |
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NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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Mvp |
major vault protein |
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ISO |
ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial |
ClinVar |
PMID:25741868 |
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NCBI chr 1:198,420,813...198,448,612
Ensembl chr 1:198,420,806...198,450,047
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Prrt2 |
proline-rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22623405 PMID:22744660 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22985072 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23299620 PMID:23343561 PMID:23352743 PMID:23532549 PMID:23535490 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24465263 PMID:24609974 PMID:24661410 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25595153 PMID:25667652 PMID:25741868 PMID:25915028 PMID:26384010 PMID:26446061 PMID:26467025 PMID:26544041 PMID:26561923 PMID:26598493 PMID:26598494 PMID:26621826 PMID:26717662 PMID:26876767 PMID:26993267 PMID:27123484 PMID:27173777 PMID:28074849 PMID:28492532 PMID:29334453 |
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NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
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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 ClinVar Annotator: match by OMIM:613402 |
OMIM ClinVar |
PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:23708187 PMID:24033266 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27232581 PMID:28492532 PMID:29261713 PMID:29655203 PMID:29720203 PMID:30039206 |
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NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
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G |
Piga |
phosphatidylinositol glycan anchor biosynthesis, class A |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar Annotator: match by OMIM:300868 |
OMIM ClinVar |
PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 PMID:10087994 PMID:15307104 PMID:22305531 PMID:24259184 PMID:24259288 PMID:24357517 PMID:24706016 PMID:24759409 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26545172 PMID:28441409 PMID:28492532 PMID:29310717 PMID:29656098 |
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NCBI chr X:31,786,823...31,799,751
Ensembl chr X:31,786,194...31,799,560
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