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G |
CHRNA2 |
cholinergic receptor nicotinic alpha 2 subunit |
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IAGP EXP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 PMID:19383498 PMID:21703448 PMID:24950454 PMID:25741868 PMID:25770198 PMID:26467025 PMID:28492532 More...
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NCBI chr 8:27,459,756...27,479,261
Ensembl chr 8:27,459,756...27,479,883
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G |
JMJD1C |
jumonji domain containing 1C |
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IAGP |
ClinVar Annotator: match by term: Benign familial infantile epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
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G |
SCN2A |
sodium voltage-gated channel alpha subunit 2 |
|
IAGP |
ClinVar Annotator: match by term: Benign familial infantile seizures ClinVar Annotator: match by term: Benign familial infantile convulsions syndrome ClinVar Annotator: match by term: Benign familial infantile epilepsy ClinVar Annotator: match by term: Benign infantile familial convulsions |
ClinVar |
PMID:11326335 PMID:15048894 PMID:17021166 PMID:18479388 PMID:23360469 PMID:25741868 PMID:26132555 PMID:27781031 PMID:28379373 PMID:28492532 PMID:29215089 PMID:37578743 More...
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NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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G |
SCN2A |
sodium voltage-gated channel alpha subunit 2 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 1 |
ClinVar |
PMID:26132555 PMID:37578743 |
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NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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G |
MVP-DT |
MVP divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 2 ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2 |
ClinVar |
PMID:2131349 PMID:9579893 PMID:11179027 PMID:11346027 PMID:12953268 PMID:18414213 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22464846 PMID:22623405 PMID:22744660 PMID:22752065 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22895590 PMID:22902309 PMID:23077016 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23190448 PMID:23299620 PMID:23352743 PMID:23363396 PMID:23496026 PMID:23529024 PMID:23566103 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24594579 PMID:24609974 PMID:24755245 PMID:24828792 PMID:24886244 PMID:24928127 PMID:25167861 PMID:25449067 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:26446061 PMID:26467025 PMID:26561923 PMID:26598493 PMID:26598494 PMID:26935445 PMID:26936445 PMID:27172900 PMID:27624551 PMID:28074849 PMID:28492532 PMID:28906077 PMID:29167286 PMID:29215089 PMID:29334453 PMID:30198221 PMID:30386286 PMID:30392205 PMID:30980674 PMID:31124310 PMID:31130284 PMID:31722684 PMID:32346475 PMID:32392383 PMID:33661484 PMID:34298454 PMID:34298581 PMID:34782754 More...
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NCBI chr16:29,808,644...29,820,367
Ensembl chr16:29,808,636...29,821,252
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G |
PRRT2 |
proline rich transmembrane protein 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 2 ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:2131349 PMID:9579893 PMID:11179027 PMID:11346027 PMID:12953268 PMID:18414213 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22464846 PMID:22623405 PMID:22744660 PMID:22752065 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22895590 PMID:22902309 PMID:23077016 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23190448 PMID:23299620 PMID:23352743 PMID:23363396 PMID:23496026 PMID:23529024 PMID:23566103 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24594579 PMID:24609974 PMID:24755245 PMID:24828792 PMID:24886244 PMID:24928127 PMID:25167861 PMID:25449067 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:26446061 PMID:26467025 PMID:26561923 PMID:26598493 PMID:26598494 PMID:26935445 PMID:26936445 PMID:27172900 PMID:27624551 PMID:28074849 PMID:28492532 PMID:28906077 PMID:29167286 PMID:29215089 PMID:29334453 PMID:30198221 PMID:30386286 PMID:30392205 PMID:30980674 PMID:31124310 PMID:31130284 PMID:31722684 PMID:32346475 PMID:32392383 PMID:33661484 PMID:34298454 PMID:34298581 PMID:34782754 More...
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NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892
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G |
ATP1A2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
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NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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G |
CSRNP3 |
cysteine and serine rich nuclear protein 3 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 2:165,469,698...165,689,407
Ensembl chr 2:165,469,647...165,689,407
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G |
GALNT3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,794,659
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G |
LOC100506124 |
uncharacterized LOC100506124 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23662938 PMID:26068938 PMID:28379373 PMID:28492532 More...
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NCBI chr 2:165,857,475...165,871,941
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G |
LOC120977013 |
Sharpr-MPRA regulatory region 13511 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:23662938 PMID:26068938 PMID:28379373 PMID:28492532 More...
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NCBI chr 2:165,293,739...165,294,033
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G |
LOC126806396 |
BRD4-independent group 4 enhancer GRCh37_chr2:166317128-166318327 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23662938 PMID:26068938 PMID:28379373 PMID:28492532 More...
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NCBI chr 2:165,460,618...165,461,817
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G |
LOC129388938 |
MPRA-validated peak3912 silencer |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23662938 PMID:26068938 PMID:28379373 PMID:28492532 More...
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NCBI chr 2:165,574,005...165,574,205
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G |
LOC129935043 |
ATAC-STARR-seq lymphoblastoid silent region 12066 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:23662938 PMID:26068938 PMID:28379373 PMID:28492532 More...
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G |
LOC129935044 |
ATAC-STARR-seq lymphoblastoid active region 16726 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23662938 PMID:26068938 PMID:28379373 PMID:28492532 More...
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G |
LOC129935045 |
ATAC-STARR-seq lymphoblastoid active region 16727 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23662938 PMID:26068938 PMID:28379373 PMID:28492532 More...
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G |
LOC129935046 |
ATAC-STARR-seq lymphoblastoid active region 16728 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23662938 PMID:26068938 PMID:28379373 PMID:28492532 More...
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G |
LOC129935047 |
ATAC-STARR-seq lymphoblastoid active region 16729 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23662938 PMID:26068938 PMID:28379373 PMID:28492532 More...
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G |
SCN1A |
sodium voltage-gated channel alpha subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
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G |
SCN1A-AS1 |
SCN1A and SCN9A antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23662938 PMID:26068938 PMID:28379373 PMID:28492532 More...
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NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
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G |
SCN1A-AS1 |
SCN1A and SCN9A antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23662938 PMID:26068938 PMID:28379373 PMID:28492532 More...
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NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771
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G |
SCN2A |
sodium voltage-gated channel alpha subunit 2 |
|
IAGP EXP |
DNA: missense mutation: exon 16 : p.N1001K ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:2635020 PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 PMID:11371648 PMID:11738931 PMID:12243921 PMID:12610651 PMID:15048894 PMID:15133511 PMID:15301839 PMID:15316014 PMID:16122630 PMID:16199547 PMID:16865694 PMID:16884893 PMID:17021166 PMID:17347258 PMID:17386050 PMID:17467289 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18379388 PMID:18414213 PMID:18479388 PMID:18930999 PMID:19304393 PMID:19400878 PMID:19702560 PMID:19783390 PMID:19786696 PMID:20358599 PMID:20371507 PMID:20522430 PMID:20869590 PMID:20956790 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:21893419 PMID:22029951 PMID:22495306 PMID:22581653 PMID:22591750 PMID:22677033 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23195492 PMID:23360469 PMID:23550958 PMID:23559409 PMID:23662938 PMID:23708187 PMID:23758435 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:24650168 PMID:24659627 PMID:24848745 PMID:24876116 PMID:25131622 PMID:25156649 PMID:25232683 PMID:25326635 PMID:25326637 PMID:25459969 PMID:25473036 PMID:25492405 PMID:25533962 PMID:25640679 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25849321 PMID:25937001 PMID:25969726 PMID:25982755 PMID:26068938 PMID:26132555 PMID:26283219 PMID:26291284 PMID:26311622 PMID:26350204 PMID:26467025 PMID:26555645 PMID:26633542 PMID:26637798 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27153334 PMID:27159988 PMID:27290639 PMID:27328862 PMID:27334371 PMID:27353043 PMID:27491411 PMID:27652284 PMID:27734276 PMID:27779742 PMID:27781028 PMID:27781031 PMID:27824329 PMID:27864847 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28133863 PMID:28135719 PMID:28150151 PMID:28166811 PMID:28191889 PMID:28254201 PMID:28256214 PMID:28263302 PMID:28379373 PMID:28492532 PMID:28518218 PMID:28554332 PMID:28628100 PMID:28708303 PMID:28709814 PMID:28735751 PMID:28817111 PMID:28837158 PMID:28867142 PMID:28947817 PMID:29056246 PMID:29068549 PMID:29100083 PMID:29186148 PMID:29215089 PMID:29314583 PMID:29358611 PMID:29429461 PMID:29625812 PMID:29635106 PMID:29655203 PMID:29691040 PMID:29720203 PMID:29760947 PMID:29844171 PMID:29852413 PMID:29933521 PMID:30109124 PMID:30185235 PMID:30314295 PMID:30361185 PMID:30381472 PMID:30415926 PMID:30552426 PMID:30564305 PMID:30619928 PMID:30776697 PMID:30859550 PMID:30928199 PMID:31054490 PMID:31144778 PMID:31175295 PMID:31302675 PMID:31332282 PMID:31487502 PMID:31526516 PMID:31558572 PMID:31904120 PMID:31957018 PMID:31995133 PMID:32090326 PMID:32139178 PMID:32400968 PMID:32488064 PMID:32603808 PMID:32613771 PMID:32651551 PMID:32695065 PMID:32725632 PMID:32750235 PMID:32845893 PMID:32860008 PMID:33000761 PMID:33004838 PMID:33084218 PMID:33240318 PMID:33258288 PMID:33278787 PMID:33394222 PMID:33779092 PMID:33818783 PMID:34015165 PMID:34055682 PMID:34469436 PMID:34568804 PMID:34782754 PMID:34894057 PMID:35348308 PMID:35431799 PMID:35571021 PMID:35701389 PMID:35715422 PMID:36480001 PMID:37578743 PMID:16417554 More...
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RGD:13207596 |
NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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G |
SCN3A |
sodium voltage-gated channel alpha subunit 3 |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:21893419 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27153334 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
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G |
SCN9A |
sodium voltage-gated channel alpha subunit 9 |
|
IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
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G |
TTC21B |
tetratricopeptide repeat domain 21B |
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IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
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G |
TTC21B-AS1 |
TTC21B antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23662938 PMID:26068938 PMID:28379373 PMID:28492532 More...
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NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891
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G |
KCNQ3 |
potassium voltage-gated channel subfamily Q member 3 |
|
IAGP |
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 |
ClinVar |
PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26582918 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 PMID:34356170 More...
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NCBI chr 8:132,120,861...132,481,095
Ensembl chr 8:132,120,861...132,481,095
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G |
LOC114803470 |
SCN8A eExon liver enhancer |
|
IAGP |
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:51,662,737...51,663,319
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G |
SCN8A |
sodium voltage-gated channel alpha subunit 8 |
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IAGP EXP |
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 ClinVar Annotator: match by term: Seizures, benign familial infantile, 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12374766 PMID:17576681 PMID:17881658 PMID:18414213 PMID:22365152 PMID:24194747 PMID:24874546 PMID:24888894 PMID:25326635 PMID:25326637 PMID:25568300 PMID:25666757 PMID:25741868 PMID:25785782 PMID:25951352 PMID:26029160 PMID:26235739 PMID:26467025 PMID:26677014 PMID:26900580 PMID:27210545 PMID:27779742 PMID:27875746 PMID:28492532 PMID:28923014 PMID:29186148 PMID:29720203 PMID:30171078 PMID:30185235 PMID:30615093 PMID:31026061 PMID:31675620 PMID:35701389 More...
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NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
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ABHD16B |
abhydrolase domain containing 16B |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,861,498...63,862,988
Ensembl chr20:63,861,498...63,862,988
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AL121827.1 |
novel transcript, antisense to CHRNA4 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:63,359,988...63,371,177
Ensembl chr20:63,359,988...63,371,177
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ARFGAP1 |
ADP ribosylation factor GTPase activating protein 1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr20:63,272,813...63,289,790
Ensembl chr20:63,272,785...63,289,790
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ARFRP1 |
ADP ribosylation factor related protein 1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,698,647...63,707,976
Ensembl chr20:63,698,642...63,708,025
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BHLHE23 |
basic helix-loop-helix family member e23 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr20:63,005,927...63,006,964
Ensembl chr20:63,005,927...63,007,035
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G |
BIRC7 |
baculoviral IAP repeat containing 7 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr20:63,235,905...63,240,495
Ensembl chr20:63,235,883...63,240,495
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CCDC25 |
coiled-coil domain containing 25 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:27,733,316...27,772,640
Ensembl chr 8:27,733,316...27,772,653
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CHRNA2 |
cholinergic receptor nicotinic alpha 2 subunit |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar Annotator: match by term: Seizures, benign familial infantile, 6 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21703448 PMID:24950454 PMID:25741868 PMID:25847220 PMID:26467025 PMID:28166811 PMID:28492532 PMID:28600779 PMID:29930392 More...
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NCBI chr 8:27,459,756...27,479,261
Ensembl chr 8:27,459,756...27,479,883
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CHRNA4 |
cholinergic receptor nicotinic alpha 4 subunit |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:3089211 PMID:7476881 PMID:7550350 PMID:7647781 PMID:8696332 PMID:8833159 PMID:9339675 PMID:9536098 PMID:10448807 PMID:10563623 PMID:10643924 PMID:10939581 PMID:10964949 PMID:11904236 PMID:12887446 PMID:14534157 PMID:14623738 PMID:15154117 PMID:16222669 PMID:17290276 PMID:17576681 PMID:18414213 PMID:18685138 PMID:19020039 PMID:19058950 PMID:19237585 PMID:19628475 PMID:19822871 PMID:20016990 PMID:20805988 PMID:21107856 PMID:21683344 PMID:21753767 PMID:22036597 PMID:22118295 PMID:22873564 PMID:22883468 PMID:23166088 PMID:23360469 PMID:23527921 PMID:23593457 PMID:23692823 PMID:24385388 PMID:24811917 PMID:25741868 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26467025 PMID:26561946 PMID:26704558 PMID:26758118 PMID:27779742 PMID:28492532 PMID:29454195 PMID:29590070 PMID:31628766 PMID:36292983 More...
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NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401
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CHRNB2 |
cholinergic receptor nicotinic beta 2 subunit |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:9536098 PMID:11062464 PMID:11104662 PMID:11906688 PMID:16199547 PMID:17576681 PMID:17900292 PMID:18414213 PMID:18456869 PMID:19059498 PMID:19237585 PMID:20736995 PMID:21703448 PMID:22036597 PMID:22897520 PMID:25741868 PMID:26467025 PMID:26475232 PMID:27336596 PMID:28488083 PMID:28492532 More...
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NCBI chr 1:154,567,778...154,580,013
Ensembl chr 1:154,567,778...154,580,013
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CLU |
clusterin |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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COL20A1 |
collagen type XX alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr20:63,293,186...63,334,806
Ensembl chr20:63,293,186...63,334,851
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COL9A3 |
collagen type IX alpha 3 chain |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159
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CRH |
corticotropin releasing hormone |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:23086396 PMID:23593457 PMID:24395520 |
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NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
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DEPDC5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24283814 PMID:25366275 PMID:25741868 PMID:28492532 PMID:28549235 PMID:28717674 PMID:31639411 More...
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NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033
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DIDO1 |
death inducer-obliterator 1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr20:62,877,743...62,937,904
Ensembl chr20:62,877,738...62,937,952
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DNAJC5 |
DnaJ heat shock protein family (Hsp40) member C5 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031
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EEF1A2 |
eukaryotic translation elongation factor 1 alpha 2 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27779742 PMID:28492532 More...
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NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
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ELP3 |
elongator acetyltransferase complex subunit 3 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:28,090,232...28,191,153
Ensembl chr 8:28,089,673...28,191,156
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EPHX2 |
epoxide hydrolase 2 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564
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ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
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EXTL3 |
exostosin like glycosyltransferase 3 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
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FBXO16 |
F-box protein 16 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:28,428,412...28,490,229
Ensembl chr 8:28,348,287...28,490,278
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FNDC11 |
fibronectin type III domain containing 11 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,553,020...63,556,708
Ensembl chr20:63,547,891...63,556,695
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FZD3 |
frizzled class receptor 3 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:28,494,212...28,574,258
Ensembl chr 8:28,494,205...28,574,267
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GABRG2 |
gamma-aminobutyric acid type A receptor subunit gamma2 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33391346 |
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NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
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GID8 |
GID complex subunit 8 homolog |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr20:62,938,147...62,948,475
Ensembl chr20:62,938,147...62,948,475
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G |
GMEB2 |
glucocorticoid modulatory element binding protein 2 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,587,605...63,627,101
Ensembl chr20:63,587,602...63,627,101
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G |
HAR1A |
highly accelerated region 1A |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr20:63,101,292...63,104,386
Ensembl chr20:63,102,205...63,104,386
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G |
HAR1B |
highly accelerated region 1B |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr20:63,095,493...63,102,319
Ensembl chr20:63,090,806...63,102,631
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HELZ2 |
helicase with zinc finger 2 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,558,086...63,574,239
Ensembl chr20:63,558,086...63,574,239
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G |
KCNQ2 |
potassium voltage-gated channel subfamily Q member 2 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27779742 PMID:28492532 More...
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NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
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LIME1 |
Lck interacting transmembrane adaptor 1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,735,701...63,739,103
Ensembl chr20:63,736,283...63,739,103
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LOC126863087 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:61986832-61988031 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:63,355,480...63,356,679
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LOC129931511 |
ATAC-STARR-seq lymphoblastoid silent region 1363 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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G |
LOC130000523 |
ATAC-STARR-seq lymphoblastoid active region 27476 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:23086396 PMID:23593457 PMID:24395520 |
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NCBI chr 8:66,177,350...66,177,419
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NKAIN4 |
sodium/potassium transporting ATPase interacting 4 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr20:63,240,784...63,254,921
Ensembl chr20:63,240,784...63,272,694
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NUGGC |
nuclear GTPase, germinal center associated |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:28,021,964...28,083,936
Ensembl chr 8:28,021,964...28,083,936
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PBK |
PDZ binding kinase |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:27,809,624...27,837,817
Ensembl chr 8:27,809,624...27,838,082
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G |
PNOC |
prepronociceptin |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:28,316,988...28,343,351
Ensembl chr 8:28,316,986...28,343,355
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G |
PPDPF |
pancreatic progenitor cell differentiation and proliferation factor |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27779742 PMID:28492532 More...
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NCBI chr20:63,520,741...63,522,206
Ensembl chr20:63,520,765...63,522,206
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G |
PTK6 |
protein tyrosine kinase 6 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,528,001...63,537,376
Ensembl chr20:63,528,001...63,537,376
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RTEL1 |
regulator of telomere elongation helicase 1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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G |
SCARA3 |
scavenger receptor class A member 3 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:27,633,463...27,734,141
Ensembl chr 8:27,633,868...27,676,776
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G |
SCARA5 |
scavenger receptor class A member 5 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:27,869,883...27,992,673
Ensembl chr 8:27,869,883...27,992,673
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G |
SLC17A9 |
solute carrier family 17 member 9 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr20:62,952,709...62,969,585
Ensembl chr20:62,952,707...62,969,585
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G |
SLC2A4RG |
SLC2A4 regulator |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,739,776...63,744,050
Ensembl chr20:63,739,776...63,744,050
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G |
SRMS |
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,538,489...63,547,749
Ensembl chr20:63,538,489...63,547,749
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G |
STMN3 |
stathmin 3 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,639,712...63,653,424
Ensembl chr20:63,639,705...63,657,682
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G |
TCFL5 |
transcription factor like 5 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr20:62,841,005...62,861,822
Ensembl chr20:62,841,005...62,861,822
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G |
TNFRSF6B |
TNF receptor superfamily member 6b |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,696,652...63,698,684
Ensembl chr20:63,696,652...63,698,684
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G |
TPD52L2 |
TPD52 like 2 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,865,270...63,891,538
Ensembl chr20:63,865,228...63,891,545
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G |
YTHDF1 |
YTH N6-methyladenosine RNA binding protein F1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr20:63,195,429...63,216,131
Ensembl chr20:63,195,429...63,216,139
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G |
ZBTB46 |
zinc finger and BTB domain containing 46 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,743,670...63,833,895
Ensembl chr20:63,743,668...63,832,038
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G |
ZGPAT |
zinc finger CCCH-type and G-patch domain containing |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25921748 PMID:28492532 |
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NCBI chr20:63,707,442...63,736,142
Ensembl chr20:63,707,465...63,736,142
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G |
ZNF395 |
zinc finger protein 395 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:28,345,590...28,386,460
Ensembl chr 8:28,345,590...28,402,701
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G |
CGN |
cingulin |
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IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:151,510,170...151,538,692
Ensembl chr 1:151,510,510...151,538,692
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G |
GABRG2 |
gamma-aminobutyric acid type A receptor subunit gamma2 |
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IAGP |
ClinVar Annotator: match by term: Dravet syndrome |
ClinVar |
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NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
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G |
LOC129931442 |
ATAC-STARR-seq lymphoblastoid silent region 1324 |
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IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:25741868 PMID:28492532 |
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G |
LYSMD1 |
LysM domain containing 1 |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:151,148,496...151,165,902
Ensembl chr 1:151,159,748...151,165,948
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G |
PI4KB |
phosphatidylinositol 4-kinase beta |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:151,291,797...151,327,715
Ensembl chr 1:151,291,797...151,327,715
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G |
PIP5K1A |
phosphatidylinositol-4-phosphate 5-kinase type 1 alpha |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:151,195,419...151,249,531
Ensembl chr 1:151,197,949...151,249,536
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G |
POGZ |
pogo transposable element derived with ZNF domain |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
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|
G |
PSMB4 |
proteasome 20S subunit beta 4 |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937
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G |
PSMD4 |
proteasome 26S subunit ubiquitin receptor, non-ATPase 4 |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:151,254,734...151,267,479
Ensembl chr 1:151,254,709...151,267,479
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G |
RFX5 |
regulatory factor X5 |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326
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G |
SCN1A |
sodium voltage-gated channel alpha subunit 1 |
|
IAGP ISS |
ClinVar Annotator: match by term: Dravet syndrome ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 OMIM:607208 |
ClinVar MouseDO OMIM |
PMID:1893009 PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15263074 PMID:15277629 PMID:15508916 PMID:16199547 PMID:16210358 PMID:16458823 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17000989 PMID:17054684 PMID:17054685 PMID:17166794 PMID:17347258 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17903680 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18566737 PMID:18680191 PMID:18755274 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19350499 PMID:19359143 PMID:19522081 PMID:19563349 PMID:19563458 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19782004 PMID:19809937 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20301494 PMID:20431604 PMID:20452746 PMID:20491869 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21425109 PMID:21555645 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21753172 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:22944210 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23773995 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:24066114 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24328833 PMID:24412860 PMID:24502503 PMID:24656210 PMID:24679980 PMID:24776920 PMID:25206388 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25525159 PMID:25590135 PMID:25669891 PMID:25741868 PMID:25741869 PMID:25754450 PMID:25818041 PMID:25885068 PMID:25986186 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26394714 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27781031 PMID:27864847 PMID:27959697 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28186331 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28544625 PMID:28664031 PMID:28708303 PMID:28794249 PMID:28837158 PMID:28864458 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29142202 PMID:29186148 PMID:29190809 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29745119 PMID:29760947 PMID:29852413 PMID:29930392 PMID:29948376 PMID:29981888 PMID:30034362 PMID:30142967 PMID:30146492 PMID:30182498 PMID:30311386 PMID:30321769 PMID:30368457 PMID:30525188 PMID:30577886 PMID:30619928 PMID:30659983 PMID:30735520 PMID:30868114 PMID:30921204 PMID:30945278 PMID:31001185 PMID:31009440 PMID:31031587 PMID:31069529 PMID:31102827 PMID:31139143 PMID:31164858 PMID:31439038 PMID:31487502 PMID:31618474 PMID:31755124 PMID:31765958 PMID:31780880 PMID:31791873 PMID:31864146 PMID:31875159 PMID:32056211 PMID:32090326 PMID:32238909 PMID:32461654 PMID:32488064 PMID:32538476 PMID:32573669 PMID:32581362 PMID:32593896 PMID:32613771 PMID:32702657 PMID:32845893 PMID:33067208 PMID:33084218 PMID:33278787 PMID:33674996 PMID:34015165 PMID:34163418 PMID:34268891 PMID:34338318 PMID:34379890 PMID:34489640 PMID:34539730 PMID:35074891 PMID:35087721 PMID:35571373 PMID:35663268 PMID:35886038 PMID:36158059 PMID:36229510 PMID:36684540 More...
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NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
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G |
SCN1A-AS1 |
SCN1A and SCN9A antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar Annotator: match by term: Dravet syndrome ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A |
ClinVar |
PMID:1893009 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14702334 PMID:14738421 PMID:15263074 PMID:15277629 PMID:16199547 PMID:16210358 PMID:16458823 PMID:16713920 PMID:17000989 PMID:17054684 PMID:17054685 PMID:17347258 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17903680 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18680191 PMID:18804930 PMID:18930999 PMID:19350499 PMID:19359143 PMID:19522081 PMID:19563349 PMID:19563458 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19809937 PMID:20100831 PMID:20117752 PMID:20301494 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20600615 PMID:20729507 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21396429 PMID:21425109 PMID:21555645 PMID:21713554 PMID:21719429 PMID:21868258 PMID:21906962 PMID:22071555 PMID:22140375 PMID:22156295 PMID:22409937 PMID:22550089 PMID:22780858 PMID:22848613 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23762420 PMID:23773995 PMID:23808377 PMID:23884151 PMID:23917401 PMID:23934111 PMID:24066114 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24328833 PMID:24502503 PMID:24679980 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25459968 PMID:25459969 PMID:25525159 PMID:25741868 PMID:25754450 PMID:25818041 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26394714 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26990884 PMID:26993267 PMID:27113213 PMID:27197941 PMID:27267376 PMID:27465585 PMID:27781031 PMID:27864847 PMID:28012175 PMID:28079314 PMID:28102150 PMID:28186331 PMID:28202706 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28708303 PMID:28837158 PMID:28864458 PMID:29141279 PMID:29186148 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29760947 PMID:29930392 PMID:29948376 PMID:29981888 PMID:30034362 PMID:30142967 PMID:30182498 PMID:30321769 PMID:30368457 PMID:30525188 PMID:30619928 PMID:30659983 PMID:30945278 PMID:31001185 PMID:31009440 PMID:31031587 PMID:31069529 PMID:31139143 PMID:31164858 PMID:31439038 PMID:31618474 PMID:31765958 PMID:31780880 PMID:31864146 PMID:32090326 PMID:32238909 PMID:32461654 PMID:32488064 PMID:32573669 PMID:32581362 PMID:32593896 PMID:33278787 PMID:33674996 PMID:34015165 PMID:34268891 PMID:34338318 PMID:35074891 PMID:35663268 PMID:35886038 PMID:36158059 PMID:36229510 More...
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NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
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G |
SCN1A-AS1 |
SCN1A and SCN9A antisense RNA 1 |
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IAGP |
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:28664031 PMID:29264398 PMID:32613771 More...
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NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771
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G |
SCN1B |
sodium voltage-gated channel beta subunit 1 |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
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G |
SCN2A |
sodium voltage-gated channel alpha subunit 2 |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
|
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NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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G |
SCN9A |
sodium voltage-gated channel alpha subunit 9 |
|
IAGP |
ClinVar Annotator: match by term: Dravet syndrome ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 PMID:25250524 PMID:25741868 PMID:25993546 PMID:26264438 PMID:26467025 PMID:26675522 PMID:26920677 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 PMID:29911575 PMID:30316835 More...
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NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
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G |
SCNM1 |
sodium channel modifier 1 |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296
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G |
SELENBP1 |
selenium binding protein 1 |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:151,364,304...151,372,705
Ensembl chr 1:151,364,304...151,372,707
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G |
SNX27 |
sorting nexin 27 |
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IAGP |
ClinVar Annotator: match by term: Dravet syndrome ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894286 PMID:28492532 PMID:31957018 More...
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NCBI chr 1:151,612,050...151,699,080
Ensembl chr 1:151,612,006...151,699,091
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G |
TMOD4 |
tropomodulin 4 |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:151,169,987...151,175,981
Ensembl chr 1:151,169,986...151,176,284
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G |
TNFAIP8L2 |
TNF alpha induced protein 8 like 2 |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:151,156,649...151,159,749
Ensembl chr 1:151,156,649...151,159,749
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G |
TUFT1 |
tuftelin 1 |
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IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:151,540,309...151,583,583
Ensembl chr 1:151,540,305...151,583,583
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G |
VPS72 |
vacuolar protein sorting 72 homolog |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:151,176,304...151,190,197
Ensembl chr 1:151,176,304...151,195,321
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G |
ZNF687 |
zinc finger protein 687 |
|
IAGP |
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:151,281,522...151,292,176
Ensembl chr 1:151,281,618...151,292,176
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G |
LOC130058793 |
ATAC-STARR-seq lymphoblastoid active region 10682 |
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IAGP |
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial |
ClinVar |
PMID:25741868 |
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NCBI chr16:29,825,128...29,825,207
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G |
LOC130058794 |
ATAC-STARR-seq lymphoblastoid active region 10683 |
|
IAGP |
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial |
ClinVar |
PMID:25741868 |
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NCBI chr16:29,825,268...29,825,397
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G |
MVP |
major vault protein |
|
IAGP |
ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial |
ClinVar |
PMID:25741868 |
|
NCBI chr16:29,820,394...29,848,039
Ensembl chr16:29,820,394...29,848,039
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G |
MVP-DT |
MVP divergent transcript |
|
IAGP |
ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial |
ClinVar |
PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22464846 PMID:22623405 PMID:22744660 PMID:22752065 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22902309 PMID:23077016 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23190448 PMID:23299620 PMID:23352743 PMID:23363396 PMID:23529024 PMID:23566103 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24465263 PMID:24594579 PMID:24755245 PMID:24828792 PMID:25167861 PMID:25449067 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:26467025 PMID:26561923 PMID:26598493 PMID:26598494 PMID:26935445 PMID:26936445 PMID:27172900 PMID:27173777 PMID:28074849 PMID:28492532 PMID:28906077 PMID:29132464 PMID:29215089 PMID:29334453 PMID:30980674 PMID:31124310 PMID:31722684 PMID:33126486 PMID:33661484 PMID:34782754 More...
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NCBI chr16:29,808,644...29,820,367
Ensembl chr16:29,808,636...29,821,252
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G |
PRRT2 |
proline rich transmembrane protein 2 |
|
IAGP EXP |
ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22464846 PMID:22623405 PMID:22744660 PMID:22752065 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22902309 PMID:23077016 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23190448 PMID:23299620 PMID:23352743 PMID:23363396 PMID:23529024 PMID:23566103 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24465263 PMID:24594579 PMID:24755245 PMID:24828792 PMID:25167861 PMID:25449067 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:26467025 PMID:26561923 PMID:26598493 PMID:26598494 PMID:26935445 PMID:26936445 PMID:27172900 PMID:27173777 PMID:28074849 PMID:28492532 PMID:28906077 PMID:29132464 PMID:29215089 PMID:29334453 PMID:30980674 PMID:31124310 PMID:31722684 PMID:33126486 PMID:33661484 PMID:34782754 More...
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NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892
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G |
FZD4 |
frizzled class receptor 4 |
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ISS IAGP |
OMIM:310600 ClinVar Annotator: match by term: Atrophia bulborum hereditaria |
MouseDO ClinVar |
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
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NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
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G |
NDP |
norrin cystine knot growth factor NDP |
|
IAGP ISS EXP |
ClinVar Annotator: match by term: Atrophia bulborum hereditaria OMIM:310600 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 PMID:7795608 PMID:7814011 PMID:8069314 PMID:8240113 PMID:8268931 PMID:8535448 PMID:8790105 PMID:8832723 PMID:8990009 PMID:9143917 PMID:9143918 PMID:9382152 PMID:10484772 PMID:10773814 PMID:11337749 PMID:11748312 PMID:14635119 PMID:15776010 PMID:16970763 PMID:17296899 PMID:17334993 PMID:20340138 PMID:20385941 PMID:20491809 PMID:22563645 PMID:22786811 PMID:23141577 PMID:25711638 PMID:25741868 PMID:26158506 PMID:26547627 PMID:28492532 PMID:30097784 PMID:30311386 PMID:30452590 PMID:31030433 PMID:31456290 More...
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NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395
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G |
NDP-AS1 |
NDP antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Atrophia bulborum hereditaria |
ClinVar |
PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 PMID:7795608 PMID:7814011 PMID:8069314 PMID:8240113 PMID:8268931 PMID:8535448 PMID:8790105 PMID:8832723 PMID:8990009 PMID:9143917 PMID:9143918 PMID:9382152 PMID:10484772 PMID:10773814 PMID:11337749 PMID:11748312 PMID:14635119 PMID:15776010 PMID:16970763 PMID:17296899 PMID:17334993 PMID:20340138 PMID:20385941 PMID:20491809 PMID:22563645 PMID:22786811 PMID:23141577 PMID:25711638 PMID:25741868 PMID:26158506 PMID:26547627 PMID:28492532 PMID:30097784 PMID:30311386 PMID:30452590 PMID:31030433 PMID:31456290 More...
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NCBI chr X:43,949,732...43,971,552
Ensembl chr X:43,949,732...43,971,582
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PRSS23 |
serine protease 23 |
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IAGP |
ClinVar Annotator: match by term: Atrophia bulborum hereditaria |
ClinVar |
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
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NCBI chr11:86,791,071...86,952,910
Ensembl chr11:86,791,059...86,952,910
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TSPAN12 |
tetraspanin 12 |
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IAGP |
ClinVar Annotator: match by term: Atrophia bulborum hereditaria |
ClinVar |
PMID:25250762 |
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NCBI chr 7:120,787,320...120,858,335
Ensembl chr 7:120,787,320...120,858,402
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CCDC88A |
coiled-coil domain containing 88A |
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IAGP |
ClinVar Annotator: match by term: Peho-like syndrome ClinVar Annotator: match by term: PEHO-like syndrome ClinVar Annotator: match by term: PEHO syndrome |
ClinVar |
PMID:25741868 PMID:26917597 PMID:28492532 |
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NCBI chr 2:55,287,842...55,419,856
Ensembl chr 2:55,287,842...55,419,895
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IGF1 |
insulin like growth factor 1 |
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IEP |
protein:decreased expression:cerebrospinal fluid: |
RGD |
PMID:11701291 |
RGD:8548849 |
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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KIF1A |
kinesin family member 1A |
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IAGP |
ClinVar Annotator: match by term: PEHO syndrome |
ClinVar |
PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 PMID:26125038 PMID:26486474 PMID:28492532 PMID:31805580 PMID:33880452 More...
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NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
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ZNHIT3 |
zinc finger HIT-type containing 3 |
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IAGP EXP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PEHO syndrome |
OMIM CTD ClinVar |
PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081 |
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NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310
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TBC1D24 |
TBC1 domain family member 24 |
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IAGP EXP |
ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10072049 PMID:18414213 PMID:20727515 PMID:23526554 PMID:24033266 PMID:24291220 PMID:24387994 PMID:25741868 PMID:26467025 PMID:27281533 PMID:28492532 PMID:30108545 PMID:30311386 PMID:31112829 PMID:31257402 PMID:31618474 PMID:31922275 PMID:32581362 PMID:33229591 More...
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NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
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ABAT |
4-aminobutyrate aminotransferase |
treatment |
ISO |
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RGD |
PMID:24321005 |
RGD:9588540 |
NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
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ARX |
aristaless related homeobox |
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ISO |
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RGD |
PMID:19439424 |
RGD:11565833 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
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CDKL5 |
cyclin dependent kinase like 5 |
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IAGP |
ClinVar Annotator: match by term: West syndrome ClinVar Annotator: match by term: Infantile spasms |
ClinVar |
PMID:16813600 PMID:18414213 PMID:18790821 PMID:21775177 PMID:22867051 PMID:25741868 PMID:28492532 More...
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NCBI chr X:18,425,608...18,653,629
Ensembl chr X:18,425,583...18,653,629
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CFL1 |
cofilin 1 |
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ISO |
protein:decreased expression:brain (rat) |
RGD |
PMID:24994451 |
RGD:11570411 |
NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026
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CRH |
corticotropin releasing hormone |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11341487 |
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NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
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DNM1 |
dynamin 1 |
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IAGP |
ClinVar Annotator: match by term: West syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
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GAD1 |
glutamate decarboxylase 1 |
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IAGP |
ClinVar Annotator: match by term: Infantile spasms |
ClinVar |
PMID:22662185 PMID:28492532 |
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NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
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HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16919904 |
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NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
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LOC120977013 |
Sharpr-MPRA regulatory region 13511 |
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IAGP |
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant |
ClinVar |
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NCBI chr 2:165,293,739...165,294,033
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LOC130004439 |
ATAC-STARR-seq lymphoblastoid active region 3829 |
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IAGP |
ClinVar Annotator: match by term: Infantile spasms |
ClinVar |
PMID:28492532 |
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NCBI chr10:96,645,472...96,645,541
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LOC130004450 |
ATAC-STARR-seq lymphoblastoid silent region 2658 |
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IAGP |
ClinVar Annotator: match by term: Infantile spasms |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 |
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NCBI chr10:96,720,276...96,720,525
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LOC130065410 |
ATAC-STARR-seq lymphoblastoid silent region 12669 |
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IAGP |
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:8,722,418...8,722,467
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MAST4 |
microtubule associated serine/threonine kinase family member 4 |
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IAGP |
ClinVar Annotator: match by term: Infantile spasms |
ClinVar |
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NCBI chr 5:66,596,393...67,169,593
Ensembl chr 5:66,596,380...67,169,593
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MC2R |
melanocortin 2 receptor |
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IAGP |
DNA:snps:promoter:multiple (human) |
RGD |
PMID:19024088 |
RGD:6484693 |
NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707
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PIK3AP1 |
phosphoinositide-3-kinase adaptor protein 1 |
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IAGP |
ClinVar Annotator: match by term: Infantile spasms ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25262651 PMID:25741868 PMID:28492532 |
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NCBI chr10:96,593,315...96,720,514
Ensembl chr10:96,593,315...96,720,514
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PLCB1 |
phospholipase C beta 1 |
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IAGP |
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360
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POMC |
proopiomelanocortin |
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EXP |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:1324751 PMID:1327015 PMID:1656808 PMID:1965992 PMID:2551692 PMID:2554740 PMID:2853496 PMID:2983143 PMID:6107850 PMID:6143199 PMID:6254450 PMID:6259007 PMID:8381257 PMID:8928979 PMID:8980841 PMID:10908253 PMID:11341487 PMID:17287597 PMID:19039989 PMID:20078871 More...
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NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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RALGAPA1 |
Ral GTPase activating protein catalytic subunit alpha 1 |
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IAGP |
ClinVar Annotator: match by term: Infantile spasms |
ClinVar |
PMID:32004447 |
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NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304
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RS1 |
retinoschisin 1 |
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IAGP |
ClinVar Annotator: match by term: West syndrome |
ClinVar |
PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 PMID:28492532 More...
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NCBI chr X:18,639,688...18,672,108
Ensembl chr X:18,639,688...18,672,108
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SCN1A |
sodium voltage-gated channel alpha subunit 1 |
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IAGP |
ClinVar Annotator: match by term: West syndrome ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:14504318 PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
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SCN1A-AS1 |
SCN1A and SCN9A antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: West syndrome ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:14504318 PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
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SCN2A |
sodium voltage-gated channel alpha subunit 2 |
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IAGP |
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant ClinVar Annotator: match by term: Infantile spasms ClinVar Annotator: match by term: West syndrome |
ClinVar |
PMID:18414213 PMID:19786696 PMID:20956790 PMID:23550958 PMID:23708187 PMID:23934111 PMID:23935176 PMID:25326635 PMID:25326637 PMID:25459969 PMID:25741868 PMID:25772804 PMID:26283219 PMID:26291284 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27334371 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28256214 PMID:28379373 PMID:28492532 PMID:28628100 PMID:28708303 PMID:28947817 PMID:29186148 PMID:29655203 PMID:29844171 PMID:30185235 PMID:30361185 PMID:30776697 PMID:30813884 PMID:30928199 PMID:31054490 PMID:31175295 PMID:31332282 PMID:31558572 PMID:31785789 PMID:31957018 PMID:31981491 PMID:31995133 PMID:32090326 PMID:32139178 PMID:32400968 PMID:32488064 PMID:32613771 PMID:32651551 PMID:32860008 PMID:33084218 PMID:33818783 PMID:34469436 More...
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NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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SCN8A |
sodium voltage-gated channel alpha subunit 8 |
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IAGP |
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant |
ClinVar |
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NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
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SLC25A22 |
solute carrier family 25 member 22 |
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IAGP |
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive |
ClinVar |
PMID:28492532 |
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NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
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SPTAN1 |
spectrin alpha, non-erythrocytic 1 |
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IAGP |
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
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STXBP1 |
syntaxin binding protein 1 |
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IAGP |
DNA:missense mutations, nonsense mutation, splice-site mutations:exon, intron:multiple ClinVar Annotator: match by term: West syndrome ClinVar Annotator: match by term: Infantile spasm ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant |
ClinVar RGD |
PMID:20887364 PMID:21193638 PMID:22612257 PMID:23934111 PMID:25326390 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:29186148 PMID:30174244 PMID:30185235 PMID:30266908 PMID:30540253 PMID:30842647 PMID:31221716 PMID:31474318 PMID:32112430 PMID:23409955 More...
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RGD:12903963 |
NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
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TRPM4 |
transient receptor potential cation channel subfamily M member 4 |
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IAGP |
ClinVar Annotator: match by term: Hypsarrhythmia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
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TSC1 |
TSC complex subunit 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18345974 |
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NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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TSC2 |
TSC complex subunit 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18345974 |
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NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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TUBA1A |
tubulin alpha 1a |
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IAGP |
ClinVar Annotator: match by term: West syndrome |
ClinVar |
PMID:25741868 PMID:26130693 |
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NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080
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UPB1 |
beta-ureidopropionase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18853477 |
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NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390
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WWOX |
WW domain containing oxidoreductase |
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IAGP |
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive |
ClinVar |
PMID:25411445 PMID:25741868 PMID:28492532 PMID:29808465 PMID:30356099 PMID:30362252 PMID:30853297 More...
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NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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