|
G |
Jmjd1c |
jumonji domain containing 1C |
|
ISO |
ClinVar Annotator: match by term: Benign familial infantile epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr20:21,330,990...21,508,580
|
|
G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
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:27781031 PMID:28379373 PMID:28492532 PMID:29215089 PMID:37578743 More...
|
|
NCBI chr 3:70,710,862...70,845,569
|
|
|
G |
Chrna2 |
cholinergic receptor nicotinic alpha 2 subunit |
|
ISO |
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:24950454 PMID:25741868 PMID:25770198 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr15:44,517,862...44,534,144
|
|
|
G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 1 |
ClinVar |
PMID:37578743 |
|
NCBI chr 3:70,710,862...70,845,569
|
|
|
G |
Prrt2 |
proline-rich transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 2 |
OMIM 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:25915028 PMID:26446061 PMID:26467025 PMID:26561923 PMID:26598493 PMID:26598494 PMID:26935445 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...
|
|
NCBI chr 1:181,625,243...181,628,833
|
|
|
G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
|
|
NCBI chr13:84,729,597...84,754,544
|
|
G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
|
ISO |
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...
|
|
NCBI chr 3:70,906,587...71,102,596
|
|
G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
|
ISO |
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...
|
|
NCBI chr 3:71,150,559...71,187,321
|
|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
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...
|
|
NCBI chr 3:71,360,840...71,479,870
|
|
G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 CTD Direct Evidence: marker/mechanism DNA: missense mutation: exon 16 : p.N1001K |
OMIM ClinVar CTD RGD |
PMID:2635020 PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 PMID:11371648 PMID:11738931 PMID:12243921 PMID:12610651 PMID:15028761 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:21439835 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:23934111 PMID:23935176 PMID:24579881 PMID:24650168 PMID:24659627 PMID:24859339 PMID:24876116 PMID:25131622 PMID:25156649 PMID:25232683 PMID:25326635 PMID:25326637 PMID:25363760 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: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:27548899 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:28191889 PMID:28254201 PMID:28256214 PMID:28263302 PMID:28379373 PMID:28492532 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:29635106 PMID:29655203 PMID:29691040 PMID:29720203 PMID:29760947 PMID:29769724 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:31031587 PMID:31054490 PMID:31144778 PMID:31175295 PMID:31302675 PMID:31332282 PMID:31487502 PMID:31526516 PMID:31558572 PMID:31780880 PMID:31785789 PMID:31904120 PMID:31904126 PMID:31924505 PMID:31957018 PMID:31981491 PMID:31995133 PMID:32090326 PMID:32139178 PMID:32400968 PMID:32477112 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:33851778 PMID:34015165 PMID:34055682 PMID:34114234 PMID:34469436 PMID:34568804 PMID:34782754 PMID:34894057 PMID:35348308 PMID:35365919 PMID:35431799 PMID:35571021 PMID:35701389 PMID:35715422 PMID:35982159 PMID:36480001 PMID:36684540 PMID:37578743 PMID:16417554 More...
|
RGD:13207596 |
NCBI chr 3:70,710,862...70,845,569
|
|
G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
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...
|
|
NCBI chr 3:70,554,496...70,666,198
|
|
G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
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...
|
|
NCBI chr 3:71,553,185...71,701,377
|
|
G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
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...
|
|
NCBI chr 3:71,269,425...71,343,936
|
|
|
G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
|
ISO |
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 |
ClinVar |
PMID:23020937 PMID:23934111 PMID:24851285 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...
|
|
NCBI chr 7:97,730,219...98,025,652
|
|
G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 5 |
OMIM ClinVar |
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:26993267 PMID:27210545 PMID:27779742 PMID:27875746 PMID:28492532 PMID:28923014 PMID:29186148 PMID:29432985 PMID:29720203 PMID:30171078 PMID:30185235 PMID:30615093 PMID:30951195 PMID:31026061 PMID:31402610 PMID:31675620 PMID:31715021 PMID:31904124 PMID:34431999 PMID:35701389 More...
|
|
NCBI chr 7:133,860,901...134,034,809
|
|
|
G |
Abhd16b |
abhydrolase domain containing 16B |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,594,677...168,596,574
|
|
G |
Adar |
adenosine deaminase, RNA-specific |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:175,138,391...175,178,280
|
|
G |
Arfgap1 |
ARF GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:168,084,560...168,099,948
|
|
G |
Arfrp1 |
ARF related protein 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,466,351...168,473,960
|
|
G |
Bhlhe23 |
basic helix-loop-helix family, member e23 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:167,889,009...167,891,223
|
|
G |
Birc7 |
baculoviral IAP repeat-containing 7 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:188,425,392...188,430,174
|
|
G |
Ccdc25 |
coiled-coil domain containing 25 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:40,055,368...40,087,758
|
|
G |
Chrna2 |
cholinergic receptor nicotinic alpha 2 subunit |
|
ISO |
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:16826524 PMID:17576681 PMID:18414213 PMID:21703448 PMID:24950454 PMID:25741868 PMID:25847220 PMID:26467025 PMID:28166811 PMID:28492532 PMID:29930392 More...
|
|
NCBI chr15:44,517,862...44,534,144
|
|
G |
Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
|
ISO |
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:16199547 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:25282705 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:30866059 PMID:31628766 PMID:32086284 PMID:32579787 PMID:36292983 More...
|
|
NCBI chr 3:168,136,246...168,157,839
|
|
G |
Chrnb2 |
cholinergic receptor nicotinic beta 2 subunit |
|
ISO |
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...
|
|
NCBI chr 2:175,181,402...175,189,619
|
|
G |
Clu |
clusterin |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:40,161,068...40,200,315
|
|
G |
Col20a1 |
collagen type XX alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:168,102,475...168,134,759
|
|
G |
Col9a3 |
collagen type IX alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:167,711,776...167,734,468
|
|
G |
Crh |
corticotropin releasing hormone |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:23086396 PMID:23593457 PMID:24395520 PMID:25741868 |
|
NCBI chr 2:104,059,184...104,061,048
|
|
G |
Depdc5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
|
ISO |
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...
|
|
NCBI chr14:81,956,777...82,087,392
|
|
G |
Dido1 |
death inducer-obliterator 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:188,150,100...188,203,445
|
|
G |
Dnajc5 |
DnaJ heat shock protein family (Hsp40) member C5 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,621,905...168,656,570
|
|
G |
Eef1a2 |
eukaryotic translation elongation factor 1 alpha 2 |
|
ISO |
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 PMID:30866059 More...
|
|
NCBI chr 3:168,265,893...168,275,071
|
|
G |
Elp3 |
elongator acetyltransferase complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:39,754,635...39,816,482
|
|
G |
Ephx2 |
epoxide hydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:40,289,901...40,327,632
|
|
G |
Esco2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,210,124...44,230,785
|
|
G |
Extl3 |
exostosin-like glycosyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:39,294,033...39,384,086
|
|
G |
Fbxo16 |
F-box protein 16 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:39,492,268...39,541,493
|
|
G |
Fndc11 |
fibronectin type III domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,330,607...168,333,111
|
|
G |
Fzd3 |
frizzled class receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:39,421,366...39,488,369
|
|
G |
Gabrg2 |
gamma-aminobutyric acid type A receptor subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33391346 |
|
NCBI chr10:26,876,926...26,965,523
|
|
G |
Gid8 |
GID complex subunit 8 homolog |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:167,826,006...167,836,759
|
|
G |
Gmeb2 |
glucocorticoid modulatory element binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,362,650...168,400,788
|
|
G |
Helz2 |
helicase with zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,338,813...168,353,219
|
|
G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
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 PMID:30866059 More...
|
|
NCBI chr 3:168,194,776...168,253,831
|
|
G |
Lime1 |
Lck interacting transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,490,535...168,496,627
|
|
G |
Nkain4 |
Sodium/potassium transporting ATPase interacting 4 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:168,053,294...168,073,944
|
|
G |
Nuggc |
nuclear GTPase, germinal center associated |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:39,821,851...39,866,122
|
|
G |
Pbk |
PDZ binding kinase |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,198,506...44,209,572
|
|
G |
Pnoc |
prepronociceptin |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,800,240...43,827,841
|
|
G |
Ppdpf |
pancreatic progenitor cell differentiation and proliferation factor |
|
ISO |
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 PMID:30866059 More...
|
|
NCBI chr 3:168,299,309...168,301,040
|
|
G |
Prpf6 |
pre-mRNA processing factor 6 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:189,084,465...189,148,705
|
|
G |
Ptk6 |
protein tyrosine kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:188,684,633...188,693,224
|
|
G |
Rtel1 |
regulator of telomere elongation helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,427,247...168,465,349
|
|
G |
Samd10 |
sterile alpha motif domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:168,700,280...168,704,427
|
|
G |
Scara3 |
scavenger receptor class A, member 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:40,139,873...40,172,866
|
|
G |
Scara5 |
scavenger receptor class A, member 5 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:39,880,017...39,985,007
|
|
G |
Slc17a9 |
solute carrier family 17 member 9 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:188,211,106...188,233,553
|
|
G |
Slc2a4rg |
SLC2A4 regulator |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,493,975...168,497,616
|
|
G |
Sox18 |
SRY-box transcription factor 18 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:168,785,488...168,787,290
|
|
G |
Srms |
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:188,696,070...188,702,474
|
|
G |
Stmn3 |
stathmin 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,416,810...168,424,946
|
|
G |
Tcfl5 |
transcription factor like 5 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:167,734,471...167,754,174
|
|
G |
Tpd52l2 |
TPD52 like 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,598,449...168,618,201
|
|
G |
Uckl1 |
uridine-cytidine kinase 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:189,052,365...189,064,939
|
|
G |
Ythdf1 |
YTH N6-methyladenosine RNA binding protein F1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:188,402,228...188,417,740
|
|
G |
Zbtb46 |
zinc finger and BTB domain containing 46 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,497,294...168,567,799
|
|
G |
Zfp395 |
zinc finger protein 395 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,757,350...43,797,513
|
|
G |
Zfp512b |
zinc finger protein 512B |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:168,687,520...168,698,067
|
|
G |
Zgpat |
zinc finger CCCH-type and G-patch domain containing |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,473,836...168,490,380
|
|
|
G |
Mvp |
major vault protein |
|
ISO |
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:191,025,259...191,052,866
|
|
G |
Prrt2 |
proline-rich transmembrane protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS |
OMIM CTD 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:23566103 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24465263 PMID:24594579 PMID:24755245 PMID:24928127 PMID:25167861 PMID:25449067 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:25915028 PMID:26467025 PMID:26561923 PMID:26598493 PMID:26598494 PMID:27172900 PMID:27173777 PMID:28074849 PMID:28492532 PMID:28906077 PMID:29132464 PMID:29215089 PMID:29334453 PMID:31124310 PMID:31722684 PMID:33126486 PMID:33661484 PMID:34782754 More...
|
|
NCBI chr 1:181,625,243...181,628,833
|
|