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G |
Abhd16b |
abhydrolase domain containing 16B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chrNW_004955528:391,749...395,181
Ensembl chrNW_004955528:391,749...395,181
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|
G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239
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G |
Adgrg1 |
adhesion G protein-coupled receptor G1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
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NCBI chrNW_004955433:15,253,196...15,288,982
Ensembl chrNW_004955433:15,259,720...15,289,151
|
|
G |
Adgrg3 |
adhesion G protein-coupled receptor G3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,290,538...15,317,020
Ensembl chrNW_004955433:15,290,394...15,319,361
|
|
G |
Adgrg5 |
adhesion G protein-coupled receptor G5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,156,116...15,209,824
Ensembl chrNW_004955433:15,161,607...15,208,375
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|
G |
Adrm1 |
ADRM1 26S proteasome ubiquitin receptor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955528:1,753,450...1,759,886
Ensembl chrNW_004955528:1,753,450...1,759,886
|
|
G |
Aif1l |
allograft inflammatory factor 1 like |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:936,889...954,667
Ensembl chrNW_004955513:936,889...954,667
|
|
G |
Ak1 |
adenylate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
|
|
G |
Ak8 |
adenylate kinase 8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:2,069,187...2,185,469
Ensembl chrNW_004955513:2,065,004...2,185,404
|
|
G |
Akr1a1 |
aldo-keto reductase family 1 member A1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:12,715,238...12,729,034
Ensembl chrNW_004955464:12,714,717...12,729,662
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|
G |
Amfr |
autocrine motility factor receptor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:14,172,871...14,205,484
Ensembl chrNW_004955433:14,172,808...14,212,110
|
|
G |
Amigo3 |
adhesion molecule with Ig like domain 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:1,618,659...1,621,706
Ensembl chrNW_004955532:1,619,532...1,621,064
|
|
G |
Angptl2 |
angiopoietin like 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chrNW_004955419:1,417,773...1,450,199
Ensembl chrNW_004955419:1,417,476...1,451,025
|
|
G |
Ano4 |
anoctamin 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955405:36,350,013...36,715,740
Ensembl chrNW_004955405:36,375,115...36,715,889
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|
G |
Ano9 |
anoctamin 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,588,043...11,603,027
Ensembl chrNW_004955476:11,589,097...11,602,532
|
|
G |
Ap2a2 |
adaptor related protein complex 2 subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,184,944...11,229,385
Ensembl chrNW_004955476:11,185,223...11,229,409
|
|
G |
Apeh |
acylaminoacyl-peptide hydrolase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:1,580,473...1,590,274
Ensembl chrNW_004955532:1,580,553...1,590,138
|
|
G |
Arfgap1 |
ARF GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955528:878,837...893,427
Ensembl chrNW_004955528:877,073...893,484
|
|
G |
Arfrp1 |
ADP ribosylation factor related protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
NCBI chrNW_004955528:519,887...529,012
Ensembl chrNW_004955528:519,887...529,012
|
|
G |
Arhgef15 |
Rho guanine nucleotide exchange factor 15 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004955467:8,590,217...8,603,778
Ensembl chrNW_004955467:8,587,873...8,602,747
|
|
G |
Arl2bp |
ARF like GTPase 2 binding protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:14,887,094...14,894,119
|
|
G |
Armh1 |
armadillo like helical domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:13,501,662...13,552,953
Ensembl chrNW_004955464:13,498,362...13,533,888
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|
G |
Art1 |
ADP-ribosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955414:19,465,969...19,487,859
Ensembl chrNW_004955414:19,465,336...19,489,433
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|
G |
Art5 |
ADP-ribosyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955414:19,460,652...19,464,771
Ensembl chrNW_004955414:19,456,199...19,464,771
|
|
G |
Artn |
artemin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chrNW_004955537:3,460,176...3,464,335
Ensembl chrNW_004955537:3,460,176...3,464,335
|
|
G |
Asb6 |
ankyrin repeat and SOCS box containing 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,747,965...1,752,728
Ensembl chrNW_004955570:1,748,568...1,752,572
|
|
G |
Ascl2 |
achaete-scute family bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:14,051,140...14,053,521
Ensembl chrNW_004955422:14,051,140...14,053,521
|
|
G |
Ass1 |
argininosuccinate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
|
|
G |
Atp6v0b |
ATPase H+ transporting V0 subunit b |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chrNW_004955537:3,501,011...3,504,408
Ensembl chrNW_004955537:3,501,011...3,504,408
|
|
G |
Aven |
apoptosis and caspase activation inhibitor |
|
ISO |
ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy |
ClinVar |
|
|
NCBI chrNW_004955416:690,440...712,391
|
|
G |
B4galnt4 |
beta-1,4-N-acetyl-galactosaminyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,624,612...11,635,317
Ensembl chrNW_004955476:11,624,858...11,635,247
|
|
G |
B4galt2 |
beta-1,4-galactosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chrNW_004955537:3,506,836...3,516,436
Ensembl chrNW_004955537:3,505,596...3,516,436
|
|
G |
Barhl1 |
BarH like homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:1,955,906...1,970,110
Ensembl chrNW_004955513:1,959,634...1,966,247
|
|
G |
Bbln |
bublin coiled coil protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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|
NCBI chrNW_004955570:709,009...712,573
Ensembl chrNW_004955570:708,747...712,573
|
|
G |
Bbs2 |
Bardet-Biedl syndrome 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:14,266,190...14,321,780
Ensembl chrNW_004955433:14,266,190...14,296,929
|
|
G |
Best4 |
bestrophin 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:13,434,429...13,439,108
Ensembl chrNW_004955464:13,434,429...13,439,108
|
|
G |
Bhlhe23 |
basic helix-loop-helix family member e23 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955528:1,094,234...1,094,674
|
|
G |
Birc7 |
baculoviral IAP repeat containing 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955528:919,246...922,581
Ensembl chrNW_004955528:919,246...922,619
|
|
G |
Brsk2 |
BR serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:10,911,515...10,951,544
Ensembl chrNW_004955476:10,911,515...10,929,183
|
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G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14981520 PMID:25741868 PMID:31369919 PMID:35290466 |
|
NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151
|
|
G |
Bsn |
bassoon presynaptic cytomatrix protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:1,527,336...1,578,394
Ensembl chrNW_004955532:1,527,477...1,570,670
|
|
G |
Btbd19 |
BTB domain containing 19 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:13,401,388...13,416,924
Ensembl chrNW_004955464:13,408,973...13,416,915
|
|
G |
Cables2 |
Cdk5 and Abl enzyme substrate 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955528:1,656,475...1,674,632
Ensembl chrNW_004955528:1,574,870...1,672,496
|
|
G |
Cacna1e |
calcium voltage-gated channel subunit alpha1 E |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:17660294 PMID:23934111 PMID:25741868 PMID:26680202 PMID:28135719 PMID:28492532 PMID:30343943 PMID:31785789 PMID:32695065 PMID:33776624 PMID:35937981 More...
|
|
NCBI chrNW_004955406:20,356,564...20,824,679
Ensembl chrNW_004955406:20,510,954...20,816,678
|
|
G |
Cacna2d2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 PMID:31785789 PMID:33798445 PMID:36539902 More...
|
|
NCBI chrNW_004955532:2,163,529...2,283,509
Ensembl chrNW_004955532:2,163,529...2,283,508
|
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G |
Camkv |
CaM kinase like vesicle associated |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:1,747,359...1,762,978
Ensembl chrNW_004955532:1,747,359...1,760,110
|
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G |
Cars1 |
cysteinyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:14,685,356...14,738,420
Ensembl chrNW_004955422:14,682,178...14,738,428
|
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G |
Ccdc102a |
coiled-coil domain containing 102A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,138,379...15,150,041
Ensembl chrNW_004955433:15,138,289...15,157,149
|
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G |
Ccdc152 |
coiled-coil domain containing 152 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955426:26,899,303...26,950,428
Ensembl chrNW_004955426:26,899,303...26,950,423
|
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G |
Ccdc17 |
coiled-coil domain containing 17 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:12,661,440...12,667,388
Ensembl chrNW_004955464:12,662,596...12,665,957
|
|
G |
Ccdc24 |
coiled-coil domain containing 24 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chrNW_004955537:3,516,502...3,520,559
Ensembl chrNW_004955537:3,517,132...3,520,219
|
|
G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,052,616...15,054,732
Ensembl chrNW_004955433:15,053,061...15,054,572
|
|
G |
Ccl22 |
C-C motif chemokine ligand 22 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,002,001...15,007,324
Ensembl chrNW_004955433:15,001,930...15,008,032
|
|
G |
Ccl28 |
C-C motif chemokine ligand 28 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955446:18,902,465...18,925,178
Ensembl chrNW_004955446:18,902,636...18,925,561
|
|
G |
Cd151 |
CD151 molecule (Raph blood group) |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,294,359...11,298,990
Ensembl chrNW_004955476:11,294,359...11,337,825
|
|
G |
Cd81 |
CD81 molecule |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:14,155,682...14,175,181
Ensembl chrNW_004955422:14,155,682...14,175,181
|
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G |
Cdhr4 |
cadherin related family member 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:1,644,995...1,690,897
Ensembl chrNW_004955532:1,683,570...1,690,834
|
|
G |
Cdhr5 |
cadherin related family member 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,435,677...11,442,338
Ensembl chrNW_004955476:11,435,642...11,442,873
|
|
G |
Cdk9 |
cyclin dependent kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chrNW_004955419:874,959...883,160
Ensembl chrNW_004955419:873,289...883,160
|
|
G |
Cdkl5 |
cyclin dependent kinase like 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:32366967 |
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NCBI chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485
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G |
Cdkn1c |
cyclin dependent kinase inhibitor 1C |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:14,576,971...14,578,868
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G |
Cel |
carboxyl ester lipase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:2,324,025...2,382,877
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G |
Cend1 |
cell cycle exit and neuronal differentiation 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,339,586...11,341,996
Ensembl chrNW_004955476:11,339,586...11,341,996
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G |
Cercam |
cerebral endothelial cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
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NCBI chrNW_004955570:898,157...925,581
Ensembl chrNW_004955570:915,001...928,060
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|
G |
Cfap157 |
cilia and flagella associated protein 157 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chrNW_004955419:942,147...950,968
Ensembl chrNW_004955419:942,270...950,922
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G |
Cfap20 |
cilia and flagella associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,648,529...15,663,308
Ensembl chrNW_004955433:15,648,099...15,663,502
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|
G |
Cfap263 |
cilia and flagella associated protein 263 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,750,921...15,775,466
Ensembl chrNW_004955433:15,750,897...15,779,371
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|
G |
Cfap77 |
cilia and flagella associated protein 77 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:1,834,654...1,951,827
Ensembl chrNW_004955513:1,834,388...1,953,638
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|
G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
|
|
NCBI chrNW_004955416:21,085,570...21,210,321
Ensembl chrNW_004955416:21,085,570...21,210,321
|
|
G |
Chid1 |
chitinase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,246,745...11,276,341
Ensembl chrNW_004955476:11,246,490...11,276,341
|
|
G |
Chrna10 |
cholinergic receptor nicotinic alpha 10 subunit |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955414:19,487,840...19,495,368
Ensembl chrNW_004955414:19,487,862...19,493,034
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|
G |
Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9425895 PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27054081 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 PMID:31418850 More...
|
|
NCBI chrNW_004955528:825,314...840,994
Ensembl chrNW_004955528:825,308...841,270
|
|
G |
Ciapin1 |
cytokine induced apoptosis inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,065,031...15,081,392
Ensembl chrNW_004955433:15,065,031...15,081,293
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|
G |
Cish |
cytokine inducible SH2 containing protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:2,380,380...2,386,000
Ensembl chrNW_004955532:2,378,088...2,386,000
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|
G |
Ciz1 |
CDKN1A interacting zinc finger protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chrNW_004955570:716,124...732,551
Ensembl chrNW_004955570:707,637...732,980
|
|
G |
Cngb1 |
cyclic nucleotide gated channel subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,467,042...15,556,471
|
|
G |
Cnot1 |
CCR4-NOT transcription complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,938,791...16,027,547
Ensembl chrNW_004955433:15,938,791...16,027,545
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G |
Col20a1 |
collagen type XX alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955528:847,416...878,741
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G |
Col9a3 |
collagen type IX alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955528:1,286,314...1,305,863
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|
G |
Coq4 |
coenzyme Q4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chrNW_004955570:837,216...846,653
Ensembl chrNW_004955570:837,216...846,653
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|
G |
Coq9 |
coenzyme Q9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,081,390...15,094,441
Ensembl chrNW_004955433:15,081,390...15,094,441
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|
G |
Cpne2 |
copine 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:14,766,247...14,808,916
Ensembl chrNW_004955433:14,769,798...14,808,916
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|
G |
Cracr2b |
calcium release activated channel regulator 2B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,299,353...11,304,105
Ensembl chrNW_004955476:11,299,614...11,303,657
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|
G |
Crat |
carnitine O-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,417,608...1,428,720
Ensembl chrNW_004955570:1,417,608...1,428,720
|
|
G |
Csnk2a2 |
casein kinase 2 alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,677,788...15,718,894
Ensembl chrNW_004955433:15,674,116...15,718,894
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|
G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25995458 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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|
NCBI chrNW_004955449:8,450,292...8,635,393
Ensembl chrNW_004955449:8,460,577...8,635,417
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G |
Ctsd |
cathepsin D |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:13,576,315...13,584,267
Ensembl chrNW_004955422:13,576,202...13,584,298
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G |
CUNH3orf18 |
chromosome unknown C3orf18 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:2,339,628...2,349,324
Ensembl chrNW_004955532:2,339,628...2,348,026
|
|
G |
CUNH5orf34 |
chromosome unknown C5orf34 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955446:18,837,488...18,862,396
Ensembl chrNW_004955446:18,841,517...18,862,814
|
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G |
CUNH9orf50 |
chromosome unknown C9orf50 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,731,774...1,737,757
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G |
CUNH9orf78 |
chromosome unknown C9orf78 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:38,060...43,450
Ensembl chrNW_004955513:38,060...43,450
|
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711
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|
G |
Dag1 |
dystroglycan 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312
|
|
G |
Ddx31 |
DEAD-box helicase 31 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:1,970,386...2,036,572
Ensembl chrNW_004955513:1,970,830...2,031,908
|
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G |
Deaf1 |
DEAF1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,398,187...11,422,633
Ensembl chrNW_004955476:11,398,448...11,423,654
|
|
G |
Dido1 |
death inducer-obliterator 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955528:1,153,181...1,207,346
Ensembl chrNW_004955528:1,162,836...1,207,596
|
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G |
Dmap1 |
DNA methyltransferase 1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:13,984,748...13,993,411
Ensembl chrNW_004955464:13,982,713...13,993,410
|
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G |
Dnajc5 |
DnaJ heat shock protein family (Hsp40) member C5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
NCBI chrNW_004955528:317,891...366,299
Ensembl chrNW_004955528:317,891...366,293
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G |
Dnm1 |
dynamin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chrNW_004955570:752,335...781,770
Ensembl chrNW_004955570:752,335...781,770
|
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G |
Dok4 |
docking protein 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,104,387...15,116,118
Ensembl chrNW_004955433:15,104,394...15,116,271
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G |
Dolk |
dolichol kinase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,310,894...1,312,952
Ensembl chrNW_004955570:1,311,056...1,312,672
|
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G |
Dolpp1 |
dolichyldiphosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,407,700...1,415,813
Ensembl chrNW_004955570:1,407,700...1,415,813
|
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G |
Dph2 |
diphthamide biosynthesis 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chrNW_004955537:3,496,688...3,500,147
Ensembl chrNW_004955537:3,496,688...3,500,147
|
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G |
Dpm2 |
dolichyl-phosphate mannosyltransferase subunit 2, regulatory |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chrNW_004955419:740,815...743,036
Ensembl chrNW_004955419:740,815...743,036
|
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G |
Drc7 |
dynein regulatory complex subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:15,319,829...15,340,525
Ensembl chrNW_004955433:15,322,508...15,340,525
|
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G |
Drd4 |
dopamine receptor D4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,424,347...11,426,962
Ensembl chrNW_004955476:11,424,411...11,426,960
|
|
G |
Dusp8 |
dual specificity phosphatase 8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:10,816,647...10,826,787
Ensembl chrNW_004955476:10,813,336...10,826,801
|
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G |
Dync2i2 |
dynein 2 intermediate chain 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:22722545 PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 PMID:31332438 PMID:33206935 PMID:33578420 More...
|
|
NCBI chrNW_004955570:1,076,498...1,086,629
Ensembl chrNW_004955570:1,076,568...1,086,613
|
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G |
Dynlt4 |
dynein light chain Tctex-type 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:13,417,735...13,419,646
Ensembl chrNW_004955464:13,417,859...13,419,635
|
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G |
Eef1a2 |
eukaryotic translation elongation factor 1 alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
NCBI chrNW_004955528:717,338...726,383
Ensembl chrNW_004955528:717,338...729,692
|
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G |
Eeig1 |
estrogen-induced osteoclastogenesis regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chrNW_004955419:707,850...738,763
Ensembl chrNW_004955419:707,847...736,339
|
|
G |
Eif2b3 |
eukaryotic translation initiation factor 2B subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:13,254,228...13,378,832
Ensembl chrNW_004955464:13,254,228...13,378,832
|
|
G |
Elfn1 |
extracellular leucine rich repeat and fibronectin type III domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity |
ClinVar |
PMID:24312227 PMID:34509675 |
|
NCBI chrNW_004955460:9,250,522...9,305,895
Ensembl chrNW_004955460:9,297,791...9,305,874
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|
G |
Endog |
endonuclease G |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,200,461...1,203,566
Ensembl chrNW_004955570:1,200,996...1,203,566
|
|
G |
Eng |
endoglin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
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G |
Eps8l2 |
EPS8 signaling adaptor L2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955476:11,371,928...11,390,588
Ensembl chrNW_004955476:11,372,571...11,389,804
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G |
Eri3 |
ERI1 exoribonuclease family member 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955464:13,855,581...13,984,598
Ensembl chrNW_004955464:13,855,154...13,984,598
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G |
Exosc2 |
exosome component 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:639,798...648,360
Ensembl chrNW_004955513:639,731...651,418
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G |
Fam78a |
family with sequence similarity 78 member A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:1,060,145...1,073,817
Ensembl chrNW_004955513:1,060,020...1,073,817
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G |
Fgf10 |
fibroblast growth factor 10 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955446:18,163,117...18,244,840
Ensembl chrNW_004955446:18,163,117...18,245,199
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G |
Fibcd1 |
fibrinogen C domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:810,927...835,106
Ensembl chrNW_004955513:808,056...835,112
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G |
Fnbp1 |
formin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:86,004...137,631
Ensembl chrNW_004955513:85,038...137,705
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G |
Fndc11 |
fibronectin type III domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chrNW_004955528:670,563...672,995
Ensembl chrNW_004955528:670,563...672,995
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G |
Fpgs |
folylpolyglutamate synthase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955419:853,891...871,729
Ensembl chrNW_004955419:851,152...871,522
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G |
Fubp3 |
far upstream element binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:548,202...595,427
Ensembl chrNW_004955513:548,139...595,479
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G |
Gabra2 |
gamma-aminobutyric acid type A receptor subunit alpha2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:29422393 |
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NCBI chrNW_004955443:2,042,202...2,176,589
Ensembl chrNW_004955443:2,042,151...2,179,174
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25995458 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004955449:8,365,951...8,406,988
Ensembl chrNW_004955449:8,379,164...8,406,988
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G |
Garnl3 |
GTPase activating Rap/RanGAP domain like 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chrNW_004955419:1,190,059...1,332,553
Ensembl chrNW_004955419:1,190,344...1,332,553
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G |
Gata5 |
GATA binding protein 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955528:1,595,231...1,604,979
Ensembl chrNW_004955528:1,595,231...1,604,979
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G |
Gatd1 |
glutamine amidotransferase class 1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955476:11,350,827...11,354,844
Ensembl chrNW_004955476:11,350,821...11,354,844
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G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:2,273,267...2,281,850
Ensembl chrNW_004955513:2,277,981...2,281,515
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G |
Ghr |
growth hormone receptor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955426:26,553,509...26,873,619
Ensembl chrNW_004955426:26,689,581...26,871,684
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G |
Gid8 |
GID complex subunit 8 homolog |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955528:1,146,313...1,153,093
Ensembl chrNW_004955528:1,146,313...1,153,093
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G |
Gins3 |
GINS complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:15,843,025...15,864,942
Ensembl chrNW_004955433:15,842,991...15,863,677
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G |
Gle1 |
GLE1 RNA export mediator |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955570:970,267...1,004,525
Ensembl chrNW_004955570:970,249...1,004,443
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G |
Gmeb2 |
glucocorticoid modulatory element binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chrNW_004955528:603,817...638,698
Ensembl chrNW_004955528:611,736...638,698
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G |
Gmppb |
GDP-mannose pyrophosphorylase B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chrNW_004955532:1,622,605...1,624,900
Ensembl chrNW_004955532:1,622,605...1,624,900
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G |
Gnai2 |
G protein subunit alpha i2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:2,059,038...2,079,120
Ensembl chrNW_004955532:2,059,038...2,079,957
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G |
Gnao1 |
G protein subunit alpha o1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:8521505 PMID:9108480 PMID:9536098 PMID:10419452 PMID:10615050 PMID:11285252 PMID:16199547 PMID:17576681 PMID:18434540 PMID:20177705 PMID:20668451 PMID:23993195 PMID:24608809 PMID:24982418 PMID:25356970 PMID:25363768 PMID:25533962 PMID:25590979 PMID:25640679 PMID:25741868 PMID:25966631 PMID:26060304 PMID:26467025 PMID:26485252 PMID:26518167 PMID:26595808 PMID:26633542 PMID:26795593 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:27916449 PMID:28135719 PMID:28191890 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28628939 PMID:28668776 PMID:28688840 PMID:28714951 PMID:28747448 PMID:28817111 PMID:29389947 PMID:29390993 PMID:29761117 PMID:29935962 PMID:30642806 PMID:30682224 PMID:30866059 PMID:31130284 PMID:31394400 PMID:31406558 PMID:31737037 PMID:31780880 PMID:32581362 PMID:32898863 PMID:33298085 PMID:34122306 PMID:35509770 PMID:35722775 PMID:35782616 PMID:37548038 PMID:37705601 More...
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NCBI chrNW_004955433:14,004,813...14,170,631
Ensembl chrNW_004955433:14,004,813...14,172,707
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G |
Gnat1 |
G protein subunit alpha transducin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:2,018,850...2,023,603
Ensembl chrNW_004955532:2,018,850...2,023,603
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G |
Golga2 |
golgin A2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955570:782,218...799,044
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G |
Got2 |
glutamic-oxaloacetic transaminase 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:25741868 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 PMID:31422819 More...
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NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
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G |
Gpbp1l1 |
GC-rich promoter binding protein 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955464:12,601,373...12,659,687
Ensembl chrNW_004955464:12,632,328...12,658,958
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G |
Gpr107 |
G protein-coupled receptor 107 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:176,806...233,708
Ensembl chrNW_004955513:176,894...230,328
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G |
Gria3 |
glutamate ionotropic receptor AMPA type subunit 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955473:11,283,642...11,574,836
Ensembl chrNW_004955473:11,281,379...11,574,907
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G |
Gtf3c4 |
general transcription factor IIIC subunit 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:2,037,312...2,054,451
Ensembl chrNW_004955513:2,037,312...2,054,451
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G |
Gtf3c5 |
general transcription factor IIIC subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:2,304,133...2,320,977
Ensembl chrNW_004955513:2,304,133...2,321,597
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G |
Hcn1 |
hyperpolarization activated cyclic nucleotide gated potassium channel 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:17931874 PMID:20437590 PMID:22131395 PMID:24747641 PMID:25640679 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 PMID:27541642 PMID:28488083 PMID:28492532 PMID:29056246 PMID:29186148 PMID:29933521 PMID:30351409 PMID:30776697 PMID:30986657 PMID:31069529 PMID:34055682 PMID:34621433 PMID:34712263 PMID:35845605 More...
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NCBI chrNW_004955446:17,146,915...17,457,843
Ensembl chrNW_004955446:17,151,311...17,457,888
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G |
Hectd3 |
HECT domain E3 ubiquitin protein ligase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955464:13,230,534...13,238,953
Ensembl chrNW_004955464:13,230,534...13,238,953
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G |
Helz2 |
helicase with zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chrNW_004955528:652,381...666,923
Ensembl chrNW_004955528:652,543...668,744
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G |
Hemk1 |
HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:2,348,123...2,359,423
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G |
Herpud1 |
homocysteine inducible ER protein with ubiquitin like domain 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:14,609,275...14,621,774
Ensembl chrNW_004955433:14,608,375...14,621,839
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G |
Hmcn2 |
hemicentin 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:303,490...434,207
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G |
Hmgcs1 |
3-hydroxy-3-methylglutaryl-CoA synthase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
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G |
Hpdl |
4-hydroxyphenylpyruvate dioxygenase like |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:12,936,996...12,940,050
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G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
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G |
Hyal1 |
hyaluronidase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:2,113,016...2,116,093
Ensembl chrNW_004955532:2,112,771...2,115,952
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G |
Hyal2 |
hyaluronidase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:2,120,781...2,125,083
Ensembl chrNW_004955532:2,120,781...2,123,726
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G |
Hyal3 |
hyaluronidase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:2,107,019...2,112,356
Ensembl chrNW_004955532:2,106,565...2,108,892
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G |
Ier5l |
immediate early response 5 like |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,479,582...1,482,281
Ensembl chrNW_004955570:1,480,851...1,482,098
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G |
Ifitm10 |
interferon induced transmembrane protein 10 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:13,556,968...13,572,010
Ensembl chrNW_004955422:13,557,416...13,573,715
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G |
Ifitm5 |
interferon induced transmembrane protein 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,745,585...11,747,006
Ensembl chrNW_004955476:11,745,585...11,747,006
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G |
Ifrd2 |
interferon related developmental regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:2,101,202...2,106,779
Ensembl chrNW_004955532:2,101,202...2,104,104
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G |
Igf2 |
insulin like growth factor 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
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G |
Inka1 |
inka box actin regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:1,695,956...1,697,521
Ensembl chrNW_004955532:1,695,956...1,697,485
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G |
Ins |
insulin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
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G |
Ip6k1 |
inositol hexakisphosphate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:1,625,298...1,644,973
Ensembl chrNW_004955532:1,625,298...1,644,973
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G |
Ipo13 |
importin 13 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chrNW_004955537:3,472,866...3,494,552
Ensembl chrNW_004955537:3,472,866...3,494,552
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G |
Ipp |
intracisternal A particle-promoted polypeptide |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:12,562,824...12,589,976
Ensembl chrNW_004955464:12,562,756...12,589,939
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G |
Irf7 |
interferon regulatory factor 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955476:11,442,781...11,445,706
Ensembl chrNW_004955476:11,443,272...11,445,657
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G |
Itpa |
inosine triphosphatase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:26224535 |
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NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
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G |
Katnb1 |
katanin regulatory subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:15,345,246...15,365,986
Ensembl chrNW_004955433:15,345,246...15,366,039
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G |
Kcna3 |
potassium voltage-gated channel subfamily A member 3 |
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ISO |
ClinVar Annotator: match by term: KCNA3-associated developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:37964487 |
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NCBI chrNW_004955435:14,132,877...14,148,911
Ensembl chrNW_004955435:14,147,454...14,148,926
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G |
Kcnb1 |
potassium voltage-gated channel subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31600826 PMID:32954514 |
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NCBI chrNW_004955445:8,680,979...8,779,662
Ensembl chrNW_004955445:8,680,965...8,774,110
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G |
Kcnc2 |
potassium voltage-gated channel subfamily C member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
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NCBI chrNW_004955405:14,420,447...14,599,780
Ensembl chrNW_004955405:14,422,396...14,600,341
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G |
Kcnh5 |
potassium voltage-gated channel subfamily H member 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532 PMID:31440721 PMID:32725632 PMID:35874597 PMID:36307226 More...
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NCBI chrNW_004955466:6,704,431...7,042,727
Ensembl chrNW_004955466:6,704,364...7,040,734
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G |
Kcnq1 |
potassium voltage-gated channel subfamily Q member 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:14,212,563...14,544,556
Ensembl chrNW_004955422:14,212,553...14,544,556
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy |
ClinVar |
PMID:2753503 PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 PMID:9872318 PMID:10363917 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12742592 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14985406 PMID:15030501 PMID:15596769 PMID:16039833 PMID:16199547 PMID:16260777 PMID:16319223 PMID:16597729 PMID:16686649 PMID:16691402 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17290276 PMID:17475800 PMID:17576681 PMID:17675531 PMID:17872363 PMID:17993630 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:18625963 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19464834 PMID:19559753 PMID:19822871 PMID:20119593 PMID:20437616 PMID:20805988 PMID:21685056 PMID:21937445 PMID:22013194 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23166088 PMID:23271449 PMID:23360469 PMID:23440208 PMID:23453664 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23797855 PMID:23849776 PMID:23934111 PMID:23959892 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24586341 PMID:24759409 PMID:24811917 PMID:24848745 PMID:24904429 PMID:25046240 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25590979 PMID:25607374 PMID:25640679 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25921748 PMID:25951140 PMID:25959266 PMID:25960349 PMID:25982755 PMID:26007637 PMID:26030193 PMID:26070303 PMID:26073431 PMID:26138355 PMID:26446091 PMID:26467025 PMID:26469389 PMID:26544041 PMID:26704558 PMID:26758118 PMID:26795593 PMID:26993267 PMID:27030113 PMID:27054081 PMID:27334371 PMID:27466704 PMID:27535030 PMID:27564677 PMID:27602407 PMID:27779742 PMID:27781031 PMID:27861786 PMID:27864847 PMID:27888506 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28420012 PMID:28492532 PMID:28503627 PMID:28602030 PMID:28628100 PMID:28631195 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28837158 PMID:28867141 PMID:28926830 PMID:28940419 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29286351 PMID:29314763 PMID:29358611 PMID:29383681 PMID:29390993 PMID:29429461 PMID:29455050 PMID:29588952 PMID:29644095 PMID:29655203 PMID:29694806 PMID:29720203 PMID:29726930 PMID:29760947 PMID:29852413 PMID:29933521 PMID:30109124 PMID:30126342 PMID:30174244 PMID:30182498 PMID:30185235 PMID:30440138 PMID:30459225 PMID:30478917 PMID:30552426 PMID:30776697 PMID:30866059 PMID:30945278 PMID:30977854 PMID:31019026 PMID:31069529 PMID:31152295 PMID:31164858 PMID:31199083 PMID:31295832 PMID:31302675 PMID:31418850 PMID:31440733 PMID:31512412 PMID:31552204 PMID:31564432 PMID:31780880 PMID:31832524 PMID:31957018 PMID:32139178 PMID:32165824 PMID:32179837 PMID:32184343 PMID:32362866 PMID:32488064 PMID:32573669 PMID:32581362 PMID:32613771 PMID:32712949 PMID:32770121 PMID:32860008 PMID:32917465 PMID:32942014 PMID:33333793 PMID:33336127 PMID:33659638 PMID:33754465 PMID:33860439 PMID:33897753 PMID:33935161 PMID:34020651 PMID:34055682 PMID:34120799 PMID:34136434 PMID:34354098 PMID:34395220 PMID:34474328 PMID:34489640 PMID:34711204 PMID:35104249 PMID:35377796 PMID:35401395 PMID:35468861 PMID:35557555 PMID:35627257 PMID:35642783 PMID:35701389 PMID:35770094 PMID:35906921 PMID:36380967 PMID:36539902 PMID:36849527 PMID:37593999 PMID:38074073 More...
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NCBI chrNW_004955528:737,416...792,885
Ensembl chrNW_004955528:737,416...791,321
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G |
Kif2c |
kinesin family member 2C |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955464:13,453,637...13,475,447
Ensembl chrNW_004955464:13,453,217...13,475,322
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G |
Kifc3 |
kinesin family member C3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:15,365,944...15,428,502
Ensembl chrNW_004955433:15,366,106...15,428,660
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G |
Klf17 |
KLF transcription factor 17 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955537:3,637,825...3,648,078
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G |
Kyat1 |
kynurenine aminotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955570:1,211,950...1,260,561
Ensembl chrNW_004955570:1,211,160...1,254,303
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G |
Lama5 |
laminin subunit alpha 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955528:1,713,110...1,753,374
Ensembl chrNW_004955528:1,713,125...1,753,116
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G |
Lamc3 |
laminin subunit gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:872,301...934,234
Ensembl chrNW_004955513:881,092...934,458
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G |
Lime1 |
Lck interacting transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chrNW_004955528:490,319...492,943
Ensembl chrNW_004955528:490,471...491,688
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G |
Lmntd2 |
lamin tail domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955476:11,487,918...11,493,281
Ensembl chrNW_004955476:11,489,481...11,493,923
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G |
Lmx1b |
LIM homeobox transcription factor 1 beta |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chrNW_004955419:1,782,566...1,857,375
Ensembl chrNW_004955419:1,782,566...1,857,375
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G |
LOC102004854 |
cytochrome b561 domain-containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31785789 More...
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NCBI chrNW_004955532:2,140,745...2,155,258
Ensembl chrNW_004955532:2,140,745...2,155,258
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G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700
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G |
Lrrc8a |
leucine rich repeat containing 8 VRAC subunit A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,270,710...1,295,658
Ensembl chrNW_004955570:1,271,131...1,295,773
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G |
Lrsam1 |
leucine rich repeat and sterile alpha motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chrNW_004955419:1,121,127...1,154,356
Ensembl chrNW_004955419:1,121,127...1,154,356
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G |
Lsmem2 |
leucine rich single-pass membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chrNW_004955532:2,096,231...2,101,541
Ensembl chrNW_004955532:2,096,770...2,100,876
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G |
Lsp1 |
lymphocyte specific protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:13,664,594...13,697,682
Ensembl chrNW_004955422:13,664,129...13,700,126
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G |
Mapkapk3 |
MAPK activated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:2,392,539...2,419,219
Ensembl chrNW_004955532:2,392,539...2,420,604
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G |
Mast2 |
microtubule associated serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:12,264,252...12,459,061
Ensembl chrNW_004955464:12,264,252...12,459,124
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G |
Mast3 |
microtubule associated serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:34185323 |
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NCBI chrNW_004955524:3,246,110...3,263,576
Ensembl chrNW_004955524:3,246,028...3,265,742
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G |
Miga2 |
mitoguardin 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,387,006...1,402,996
Ensembl chrNW_004955570:1,387,013...1,402,996
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G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:12,774,018...12,780,612
Ensembl chrNW_004955464:12,772,420...12,780,612
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G |
Mmp15 |
matrix metallopeptidase 15 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:15,584,206...15,603,162
Ensembl chrNW_004955433:15,584,780...15,601,739
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G |
Mob2 |
MOB kinase activator 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955476:10,840,727...10,906,726
Ensembl chrNW_004955476:10,840,718...10,910,265
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G |
Mon1a |
MON1 homolog A, secretory trafficking associated |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chrNW_004955532:1,793,233...1,811,675
Ensembl chrNW_004955532:1,790,929...1,812,125
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G |
Mrgbp |
MRG domain binding protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955528:1,320,061...1,324,094
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G |
Mrgpre |
MAS related GPR family member E |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:14,976,730...14,982,295
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G |
Mrgprg |
MAS related GPR family member G |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:14,962,676...14,967,828
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G |
Mrpl23 |
mitochondrial ribosomal protein L23 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:13,735,603...13,743,575
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G |
Mrps30 |
mitochondrial ribosomal protein S30 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955446:17,847,599...17,854,544
Ensembl chrNW_004955446:17,847,676...17,854,544
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G |
Mst1 |
macrophage stimulating 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chrNW_004955532:1,590,685...1,595,655
Ensembl chrNW_004955532:1,590,755...1,595,148
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G |
Mst1r |
macrophage stimulating 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chrNW_004955532:1,774,726...1,789,662
Ensembl chrNW_004955532:1,775,033...1,787,990
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,108,826...11,135,697
Ensembl chrNW_004955476:11,108,826...11,135,697
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,061,405...11,084,294
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G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,021,665...11,049,239
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G |
Muc6 |
mucin 6, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,165,423...11,184,674
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G |
Mutyh |
mutY DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:12,927,669...12,936,894
Ensembl chrNW_004955464:12,933,497...12,938,468
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G |
Naa80 |
N-alpha-acetyltransferase 80, NatH catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:2,109,595...2,112,013
Ensembl chrNW_004955532:2,110,133...2,110,744
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G |
Naif1 |
nuclear apoptosis inducing factor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955419:656,311...661,928
Ensembl chrNW_004955419:656,275...661,928
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G |
Nap1l4 |
nucleosome assembly protein 1 like 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:14,630,858...14,673,171
Ensembl chrNW_004955422:14,628,371...14,673,165
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G |
Nasp |
nuclear autoantigenic sperm protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:12,667,050...12,697,021
Ensembl chrNW_004955464:12,667,050...12,697,769
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G |
Ncs1 |
neuronal calcium sensor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:268,979...289,385
|
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G |
Ndrg4 |
NDRG family member 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:15,914,884...15,933,000
Ensembl chrNW_004955433:15,914,823...15,933,659
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G |
Niban2 |
niban apoptosis regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chrNW_004955419:1,089,602...1,119,620
Ensembl chrNW_004955419:1,072,243...1,119,620
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G |
Nkain4 |
sodium/potassium transporting ATPase interacting 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955528:903,195...917,522
Ensembl chrNW_004955528:903,176...918,903
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Nlrc5 |
NLR family CARD domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:14,670,273...14,752,739
Ensembl chrNW_004955433:14,670,207...14,751,782
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Nnt |
nicotinamide nucleotide transhydrogenase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955446:18,685,511...18,778,024
Ensembl chrNW_004955446:18,685,516...18,778,024
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G |
Nprl2 |
NPR2 like, GATOR1 complex subunit |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 PMID:30410802 |
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NCBI chrNW_004955532:2,148,950...2,152,671
Ensembl chrNW_004955532:2,148,950...2,152,671
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G |
Ntmt1 |
N-terminal Xaa-Pro-Lys N-methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955570:1,730,407...1,747,813
Ensembl chrNW_004955570:1,744,716...1,747,813
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G |
Ntng2 |
netrin G2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:1,654,398...1,701,062
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G |
Ntsr1 |
neurotensin receptor 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955528:1,348,616...1,394,798
Ensembl chrNW_004955528:1,348,555...1,394,868
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G |
Nudt21 |
nudix hydrolase 21 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:14,220,356...14,234,423
Ensembl chrNW_004955433:14,216,974...14,234,611
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G |
Nup188 |
nucleoporin 188 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955570:1,312,998...1,369,513
Ensembl chrNW_004955570:1,312,998...1,369,513
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G |
Nup214 |
nucleoporin 214 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:955,639...1,038,912
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G |
Nup93 |
nucleoporin 93 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:14,408,079...14,533,292
Ensembl chrNW_004955433:14,407,962...14,535,500
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G |
Nup98 |
nucleoporin 98 and 96 precursor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:19,499,577...19,607,075
Ensembl chrNW_004955414:19,499,406...19,607,075
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G |
Odf2 |
outer dense fiber of sperm tails 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955570:932,002...966,602
Ensembl chrNW_004955570:932,041...968,012
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G |
Ogfod1 |
2-oxoglutarate and iron dependent oxygenase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:14,234,469...14,260,211
Ensembl chrNW_004955433:14,234,636...14,260,211
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G |
Ogfr |
opioid growth factor receptor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955528:1,310,394...1,316,748
Ensembl chrNW_004955528:1,310,712...1,317,693
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G |
Osbpl5 |
oxysterol binding protein like 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:14,871,578...14,928,935
Ensembl chrNW_004955422:14,868,633...14,930,415
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G |
Paip1 |
poly(A) binding protein interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955446:18,801,971...18,830,816
Ensembl chrNW_004955446:18,801,578...18,831,963
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G |
Pgap2 |
post-GPI attachment to proteins 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:19,607,180...19,630,010
Ensembl chrNW_004955414:19,607,180...19,630,010
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G |
Phlda2 |
pleckstrin homology like domain family A member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:14,617,794...14,619,595
Ensembl chrNW_004955422:14,617,794...14,619,595
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G |
Phrf1 |
PHD and ring finger domains 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,446,194...11,476,892
Ensembl chrNW_004955476:11,446,376...11,477,530
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G |
Phyhd1 |
phytanoyl-CoA dioxygenase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,298,243...1,308,230
Ensembl chrNW_004955570:1,298,069...1,307,940
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G |
Pidd1 |
p53-induced death domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955476:11,325,877...11,331,447
Ensembl chrNW_004955476:11,326,626...11,331,360
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G |
Pigp |
phosphatidylinositol glycan anchor biosynthesis class P |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915 |
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NCBI chrNW_004955407:36,178,323...36,185,317
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G |
Pip5kl1 |
phosphatidylinositol-4-phosphate 5-kinase like 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955419:745,400...753,819
Ensembl chrNW_004955419:745,344...753,819
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G |
Pkn3 |
protein kinase N3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,121,803...1,131,296
Ensembl chrNW_004955570:1,121,803...1,133,280
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G |
Pkp3 |
plakophilin 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,611,240...11,619,210
Ensembl chrNW_004955476:11,611,240...11,619,780
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G |
Plk3 |
polo like kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:13,419,562...13,424,104
Ensembl chrNW_004955464:13,419,562...13,424,104
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G |
Pllp |
plasmolipin |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
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NCBI chrNW_004955433:14,896,087...14,915,794
Ensembl chrNW_004955433:14,896,087...14,915,794
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G |
Plpp7 |
phospholipid phosphatase 7 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:1,081,748...1,092,025
Ensembl chrNW_004955513:1,076,524...1,092,025
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G |
Pnpla2 |
patatin like phospholipase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,304,660...11,309,755
Ensembl chrNW_004955476:11,303,843...11,309,181
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G |
Polr2c |
RNA polymerase II subunit C |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:15,096,324...15,104,435
Ensembl chrNW_004955433:15,096,324...15,111,846
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G |
Polr2l |
RNA polymerase II, I and III subunit L |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,291,215...11,293,536
Ensembl chrNW_004955476:11,291,215...11,293,536
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G |
Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:12,076,815...12,086,961
Ensembl chrNW_004955464:12,077,406...12,086,700
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G |
Pomt1 |
protein O-mannosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:1,189,169...1,203,933
Ensembl chrNW_004955513:1,189,169...1,203,933
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G |
Ppdpf |
pancreatic progenitor cell differentiation and proliferation factor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chrNW_004955528:701,182...718,037
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G |
Prdm12 |
PR/SET domain 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:612,566...627,848
Ensembl chrNW_004955513:612,566...627,323
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G |
Prdx1 |
peroxiredoxin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:12,761,390...12,773,413
Ensembl chrNW_004955464:12,761,401...12,773,146
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G |
Prrc2b |
proline rich coiled-coil 2B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:1,137,099...1,187,724
Ensembl chrNW_004955513:1,138,292...1,183,665
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G |
Prss54 |
serine protease 54 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
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NCBI chrNW_004955433:15,775,492...15,788,128
Ensembl chrNW_004955433:15,775,880...15,788,524
|
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G |
Psme3ip1 |
proteasome activator subunit 3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
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NCBI chrNW_004955433:14,813,688...14,843,446
Ensembl chrNW_004955433:14,813,688...14,843,223
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G |
Ptch2 |
patched 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:13,387,844...13,403,991
Ensembl chrNW_004955464:13,387,844...13,403,991
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G |
Ptdss2 |
phosphatidylserine synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,554,962...11,585,574
Ensembl chrNW_004955476:11,554,962...11,581,906
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G |
Ptges |
prostaglandin E synthase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955445:10,053,745...10,056,981
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G |
Ptges2 |
prostaglandin E synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955419:608,313...612,813
Ensembl chrNW_004955419:608,365...612,479
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G |
Ptk6 |
protein tyrosine kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:26030193 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chrNW_004955528:687,996...695,596
Ensembl chrNW_004955528:687,996...695,596
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G |
Ptpa |
protein phosphatase 2 phosphatase activator |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,429,316...1,454,820
Ensembl chrNW_004955570:1,429,316...1,455,562
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G |
Ptrh1 |
peptidyl-tRNA hydrolase 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955419:940,508...942,375
Ensembl chrNW_004955419:940,508...942,375
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G |
Qrfp |
pyroglutamylated RFamide peptide |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:802,809...805,835
Ensembl chrNW_004955513:803,630...804,034
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G |
Ralgps1 |
Ral GEF with PH domain and SH3 binding motif 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
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NCBI chrNW_004955419:1,334,627...1,593,828
Ensembl chrNW_004955419:1,334,627...1,594,192
|
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G |
Rapgef1 |
Rap guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:1,224,418...1,328,176
Ensembl chrNW_004955513:1,226,205...1,315,922
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G |
Rassf1 |
Ras association domain family member 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:2,132,892...2,142,106
Ensembl chrNW_004955532:2,132,822...2,142,106
|
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G |
Rassf7 |
Ras association domain family member 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,485,308...11,487,840
Ensembl chrNW_004955476:11,482,654...11,488,413
|
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G |
Rbbp8nl |
RBBP8 N-terminal like |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955528:1,641,291...1,655,920
Ensembl chrNW_004955528:1,647,199...1,653,035
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G |
Rbm5 |
RNA binding motif protein 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:1,929,540...1,957,297
Ensembl chrNW_004955532:1,929,043...1,956,812
|
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G |
Rbm6 |
RNA binding motif protein 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:1,811,794...1,914,551
Ensembl chrNW_004955532:1,811,794...1,916,328
|
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G |
Rhog |
ras homolog family member G |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955414:19,630,564...19,641,722
Ensembl chrNW_004955414:19,630,564...19,641,550
|
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G |
Rnf123 |
ring finger protein 123 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:1,595,970...1,622,633
Ensembl chrNW_004955532:1,596,080...1,625,672
|
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G |
Rnf220 |
ring finger protein 220 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:13,579,828...13,795,266
Ensembl chrNW_004955464:13,580,742...13,801,837
|
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G |
Rnh1 |
ribonuclease/angiogenin inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,543,006...11,549,391
Ensembl chrNW_004955476:11,536,378...11,549,205
|
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G |
Rpl12 |
ribosomal protein L12 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chrNW_004955419:1,154,397...1,157,508
Ensembl chrNW_004955419:1,154,397...1,157,500
|
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G |
Rplp2 |
ribosomal protein lateral stalk subunit P2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,312,051...11,314,334
|
|
G |
Rps21 |
ribosomal protein S21 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955528:1,674,744...1,676,114
Ensembl chrNW_004955528:1,674,744...1,676,947
|
|
G |
Rps8 |
ribosomal protein S8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:13,443,580...13,445,391
Ensembl chrNW_004955464:13,443,631...13,445,389
|
|
G |
Rspry1 |
ring finger and SPRY domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:14,843,521...14,884,083
Ensembl chrNW_004955433:14,843,671...14,884,742
|
|
G |
Rtel1 |
regulator of telomere elongation helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
NCBI chrNW_004955528:531,680...578,003
Ensembl chrNW_004955528:532,385...572,398
|
|
G |
Ryr3 |
ryanodine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004955416:712,506...1,260,111
Ensembl chrNW_004955416:713,373...1,259,885
|
|
G |
Samd10 |
sterile alpha motif domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955528:279,481...284,386
Ensembl chrNW_004955528:281,932...284,386
|
|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: KCNA3-associated developmental and epileptic encephalopathy ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy |
ClinVar |
PMID:1868258 PMID:1893099 PMID:9126059 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11524484 PMID:11567038 PMID:11756608 PMID:11823106 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12535936 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12773292 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15133511 PMID:15263074 PMID:15277629 PMID:15508916 PMID:15694566 PMID:15805193 PMID:15880351 PMID:16075041 PMID:16199547 PMID:16210358 PMID:16359470 PMID:16380441 PMID:16458823 PMID:16525050 PMID:16541393 PMID:16713913 PMID:16713920 PMID:16865694 PMID:17001291 PMID:17054684 PMID:17054685 PMID:17129991 PMID:17166794 PMID:17347258 PMID:17436242 PMID:17470132 PMID:17507202 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17679682 PMID:17903680 PMID:17928445 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18251839 PMID:18327258 PMID:18330841 PMID:18413471 PMID:18414213 PMID:18479393 PMID:18554359 PMID:18566737 PMID:18621678 PMID:18632234 PMID:18755274 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19220312 PMID:19236456 PMID:19289736 PMID:19303743 PMID:19304393 PMID:19332696 PMID:19339291 PMID:19350499 PMID:19359143 PMID:19400878 PMID:19464195 PMID:19522081 PMID:19563349 PMID:19563458 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19763152 PMID:19763161 PMID:19782004 PMID:19783390 PMID:19809937 PMID:19949041 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20301494 PMID:20301562 PMID:20307669 PMID:20358599 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20619928 PMID:20729507 PMID:20738378 PMID:20879882 PMID:21068128 PMID:21248271 PMID:21258341 PMID:21371021 PMID:21396429 PMID:21416599 PMID:21425109 PMID:21426328 PMID:21555645 PMID:21692795 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21775168 PMID:21844054 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22028529 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22188362 PMID:22292851 PMID:22406018 PMID:22409937 PMID:22495306 PMID:22525008 PMID:22550089 PMID:22591328 PMID:22612257 PMID:22780858 PMID:22781031 PMID:22848613 PMID:22944210 PMID:22992668 PMID:23016767 PMID:23020937 PMID:23032131 PMID:23086956 PMID:23103419 PMID:23184456 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23485646 PMID:23527921 PMID:23559409 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:23945787 PMID:24066114 PMID:24097157 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24337656 PMID:24412860 PMID:24472396 PMID:24502503 PMID:24623842 PMID:24650168 PMID:24656210 PMID:24679980 PMID:24848745 PMID:24876116 PMID:25108116 PMID:25206388 PMID:25243660 PMID:25253744 PMID:25326635 PMID:25348405 PMID:25356970 PMID:25378155 PMID:25401298 PMID:25439579 PMID:25459968 PMID:25459969 PMID:25492405 PMID:25524840 PMID:25525159 PMID:25569746 PMID:25576396 PMID:25590135 PMID:25640679 PMID:25669891 PMID:25741868 PMID:25754450 PMID:25795284 PMID:25818041 PMID:25885068 PMID:25986186 PMID:25995458 PMID:26068938 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26236192 PMID:26252084 PMID:26311622 PMID:26314341 PMID:26339958 PMID:26394714 PMID:26467025 PMID:26544041 PMID:26555147 PMID:26633542 PMID:26680202 PMID:26699486 PMID:26763045 PMID:26795593 PMID:26845707 PMID:26863999 PMID:26934580 PMID:26990884 PMID:26993267 PMID:27029629 PMID:27066544 PMID:27113213 PMID:27155821 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27458797 PMID:27465585 PMID:27491411 PMID:27541642 PMID:27582020 PMID:27652284 PMID:27734276 PMID:27781031 PMID:27864847 PMID:27959697 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28166811 PMID:28186331 PMID:28192756 PMID:28202706 PMID:28356460 PMID:28379373 PMID:28387369 PMID:28469861 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28518218 PMID:28525652 PMID:28544625 PMID:28554332 PMID:28664031 PMID:28708303 PMID:28735751 PMID:28794249 PMID:28837158 PMID:28842445 PMID:28864458 PMID:28951233 PMID:29056246 PMID:29068549 PMID:29095814 PMID:29100083 PMID:29141279 PMID:29141311 PMID:29142202 PMID:29145747 PMID:29186148 PMID:29188601 PMID:29190809 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29455050 PMID:29460957 PMID:29573403 PMID:29655203 PMID:29720203 PMID:29739726 PMID:29745119 PMID:29760947 PMID:29778030 PMID:29852413 PMID:29930392 PMID:29933521 PMID:29948376 PMID:29981888 PMID:29986598 PMID:30011152 PMID:30034362 PMID:30146492 PMID:30182498 PMID:30182801 PMID:30185235 PMID:30258939 PMID:30321769 PMID:30368457 PMID:30498473 PMID:30525188 PMID:30526861 PMID:30558019 PMID:30564305 PMID:30577886 PMID:30619928 PMID:30659983 PMID:30660939 PMID:30779207 PMID:30795902 PMID:30805006 PMID:30868114 PMID:30921204 PMID:30945278 PMID:30977726 PMID:31001185 PMID:31009440 PMID:31019026 PMID:31031587 PMID:31054490 PMID:31069529 PMID:31139143 PMID:31164858 PMID:31175295 PMID:31273778 PMID:31302675 PMID:31439038 PMID:31440721 PMID:31487502 PMID:31618474 PMID:31618753 PMID:31677916 PMID:31720899 PMID:31730442 PMID:31755124 PMID:31765958 PMID:31780880 PMID:31782251 PMID:31791873 PMID:31864146 PMID:31875159 PMID:31880072 PMID:32031527 PMID:32056211 PMID:32090326 PMID:32139178 PMID:32238909 PMID:32276107 PMID:32461654 PMID:32538476 PMID:32573669 PMID:32581296 PMID:32581362 PMID:32593896 PMID:32613771 PMID:32702657 PMID:32845893 PMID:33067208 PMID:33084218 PMID:33108073 PMID:33278787 PMID:33391346 PMID:33411788 PMID:33674996 PMID:33895391 PMID:34015165 PMID:34055682 PMID:34106054 PMID:34107977 PMID:34163418 PMID:34174751 PMID:34268891 PMID:34338318 PMID:34379890 PMID:34489640 PMID:34539730 PMID:34645491 PMID:34712263 PMID:34917021 PMID:34938262 PMID:35072530 PMID:35074891 PMID:35087721 PMID:35231114 PMID:35571373 PMID:35627257 PMID:35663268 PMID:36158059 PMID:36229510 PMID:36287100 PMID:36636894 PMID:36684540 PMID:37524782 PMID:39033378 More...
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|
NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
|
|
G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:15048894 PMID:15133511 PMID:16865694 PMID:17021166 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479388 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20371507 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:23935176 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25741868 PMID:25995458 PMID:26068938 PMID:26993267 PMID:27491411 PMID:27779742 PMID:27781031 PMID:28379373 PMID:28492532 PMID:28709814 PMID:29068549 PMID:29100083 PMID:29655203 PMID:30381472 PMID:30619928 PMID:31054490 PMID:31302675 PMID:31780880 PMID:31904120 PMID:31904126 PMID:32400968 PMID:34782754 PMID:35431799 PMID:36684540 PMID:37578743 More...
|
|
NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200
|
|
G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:10051516 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18242854 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20420834 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:22787448 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24157691 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25741868 PMID:25995458 PMID:26068938 PMID:26467025 PMID:27491411 PMID:28235671 PMID:28379373 PMID:28492532 PMID:29068549 PMID:29466837 PMID:29740860 PMID:30146301 PMID:30904718 PMID:31871067 PMID:32183904 PMID:32515017 PMID:34081427 More...
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|
NCBI chrNW_004955449:8,896,454...9,009,304
Ensembl chrNW_004955449:8,896,454...9,009,304
|
|
G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:12374766 PMID:15525788 PMID:15800189 PMID:16199547 PMID:17576681 PMID:17881658 PMID:18414213 PMID:19254928 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:24194747 PMID:24352161 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25568300 PMID:25666757 PMID:25725044 PMID:25741868 PMID:25785782 PMID:25799905 PMID:25818041 PMID:25849321 PMID:25914188 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235739 PMID:26252990 PMID:26297079 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26647175 PMID:26677014 PMID:26900580 PMID:26993267 PMID:27165006 PMID:27210545 PMID:27267376 PMID:27375106 PMID:27659738 PMID:27779742 PMID:27781031 PMID:27864847 PMID:27875746 PMID:27900360 PMID:28135719 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28702509 PMID:28735751 PMID:28923014 PMID:28973083 PMID:29056246 PMID:29100083 PMID:29121005 PMID:29186148 PMID:29263050 PMID:29356177 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:29852413 PMID:29933521 PMID:30078772 PMID:30109124 PMID:30171078 PMID:30185235 PMID:30314295 PMID:30615093 PMID:30951195 PMID:30968951 PMID:31026061 PMID:31054490 PMID:31069529 PMID:31335965 PMID:31402610 PMID:31487502 PMID:31618753 PMID:31625145 PMID:31675620 PMID:31715021 PMID:31887642 PMID:31904124 PMID:32040247 PMID:32090326 PMID:32651551 PMID:32725632 PMID:32901917 PMID:32916281 PMID:32920374 PMID:33004838 PMID:33013363 PMID:33201365 PMID:33827760 PMID:33851778 PMID:34120799 PMID:34431999 PMID:34979445 PMID:35188110 PMID:35701389 More...
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|
NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
|
|
G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21248271 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25995458 PMID:26068938 PMID:27491411 PMID:28202706 PMID:28379373 PMID:28492532 PMID:29068549 PMID:30795902 More...
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|
NCBI chrNW_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569
|
|
G |
Sct |
secretin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,433,857...11,434,662
Ensembl chrNW_004955476:11,433,969...11,434,574
|
|
G |
Selenop |
selenoprotein P |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955426:26,951,003...26,961,839
|
|
G |
Sema3b |
semaphorin 3B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:2,083,457...2,093,327
Ensembl chrNW_004955532:2,085,319...2,093,499
|
|
G |
Sema3f |
semaphorin 3F |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:1,992,417...2,015,879
Ensembl chrNW_004955532:1,988,486...2,017,170
|
|
G |
Set |
SET nuclear proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,104,447...1,117,682
|
|
G |
Setd6 |
SET domain containing 6, protein lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chrNW_004955433:15,934,091...15,937,738
Ensembl chrNW_004955433:15,934,089...15,937,738
|
|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021
|
|
G |
Sh2d3c |
SH2 domain containing 3C |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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|
NCBI chrNW_004955419:891,133...921,062
Ensembl chrNW_004955419:891,133...921,062
|
|
G |
Sh3glb2 |
SH3 domain containing GRB2 like, endophilin B2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,370,106...1,379,405
Ensembl chrNW_004955570:1,370,106...1,379,408
|
|
G |
Sigirr |
single Ig and TIR domain containing |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:11,603,375...11,610,606
Ensembl chrNW_004955476:11,603,381...11,610,571
|
|
G |
Slc12a3 |
solute carrier family 12 member 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chrNW_004955433:14,553,752...14,588,317
Ensembl chrNW_004955433:14,553,758...14,587,602
|
|
G |
Slc17a9 |
solute carrier family 17 member 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955528:1,124,430...1,139,476
Ensembl chrNW_004955528:1,124,437...1,139,476
|
|
G |
Slc22a18 |
solute carrier family 22 member 18 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:14,590,588...14,615,898
Ensembl chrNW_004955422:14,592,250...14,616,890
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|
G |
Slc25a22 |
solute carrier family 25 member 22 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:15592994 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19780765 PMID:25033742 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28255779 PMID:28454995 PMID:28492532 PMID:29924869 PMID:31589614 More...
|
|
NCBI chrNW_004955476:11,334,508...11,338,781
Ensembl chrNW_004955476:11,334,507...11,338,835
|
|
G |
Slc25a25 |
solute carrier family 25 member 25 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955419:621,445...656,172
Ensembl chrNW_004955419:618,979...656,189
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Slc27a4 |
solute carrier family 27 member 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955570:853,856...866,383
Ensembl chrNW_004955570:853,849...866,383
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Slc2a4rg |
SLC2A4 regulator |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chrNW_004955528:485,653...488,923
Ensembl chrNW_004955528:486,140...488,920
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Slc2a8 |
solute carrier family 2 member 8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chrNW_004955419:1,177,752...1,187,157
Ensembl chrNW_004955419:1,177,059...1,187,110
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Slc32a1 |
solute carrier family 32 member 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:36073542 |
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NCBI chrNW_004955445:18,033,128...18,038,002
Ensembl chrNW_004955445:18,032,932...18,038,216
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G |
Slc38a3 |
solute carrier family 38 member 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chrNW_004955532:2,023,694...2,046,556
Ensembl chrNW_004955532:2,023,694...2,050,708
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Slc38a7 |
solute carrier family 38 member 7 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:16,086,747...16,100,185
Ensembl chrNW_004955433:16,086,510...16,101,184
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G |
Slc6a9 |
solute carrier family 6 member 9 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
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NCBI chrNW_004955537:3,520,516...3,549,492
Ensembl chrNW_004955537:3,520,516...3,550,022
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G |
Slco4a1 |
solute carrier organic anion transporter family member 4A1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955528:1,436,058...1,449,178
Ensembl chrNW_004955528:1,436,009...1,455,940
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G |
Snap25 |
synaptosome associated protein 25 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:15044754 PMID:15834421 PMID:25381298 PMID:25741868 PMID:28492532 PMID:29100083 PMID:29355968 PMID:29491473 PMID:33147442 PMID:33299146 More...
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NCBI chrNW_004955415:20,133,361...20,218,840
Ensembl chrNW_004955415:20,133,201...20,219,023
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G |
Sox18 |
SRY-box transcription factor 18 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955528:204,729...206,772
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Spaca9 |
sperm acrosome associated 9 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:2,184,878...2,196,367
Ensembl chrNW_004955513:2,185,754...2,196,323
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G |
Spmip8 |
sperm microtubule inner protein 8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:15,551,435...15,558,054
Ensembl chrNW_004955433:15,551,428...15,558,152
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G |
Spout1 |
SPOUT domain containing methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955570:1,202,987...1,211,052
Ensembl chrNW_004955570:1,204,040...1,211,020
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Sptan1 |
spectrin alpha, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 PMID:20228407 PMID:20887364 PMID:22258530 PMID:22368301 PMID:22722545 PMID:24183449 PMID:24183451 PMID:25224718 PMID:25326637 PMID:25640679 PMID:25658047 PMID:25741868 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26539891 PMID:26704558 PMID:26865513 PMID:28199897 PMID:28379358 PMID:28492532 PMID:29050398 PMID:29264391 PMID:29358611 PMID:29655203 PMID:31069529 PMID:31332438 PMID:31452935 PMID:31515523 PMID:31785789 PMID:32811770 PMID:33206935 PMID:33578420 PMID:34172529 PMID:34489640 PMID:34556655 PMID:34590414 PMID:34653234 PMID:35150594 PMID:36331550 More...
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NCBI chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499
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Srms |
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chrNW_004955528:677,332...685,903
Ensembl chrNW_004955528:677,628...684,340
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G |
St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23252400 PMID:25640679 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31584066 More...
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NCBI chrNW_004955537:3,258,076...3,458,742
Ensembl chrNW_004955537:3,258,076...3,458,742
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St6galnac4 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955419:756,768...764,897
Ensembl chrNW_004955419:756,747...764,897
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St6galnac6 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955419:771,721...792,756
Ensembl chrNW_004955419:772,837...796,724
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Stim1 |
stromal interaction molecule 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955414:19,652,990...19,849,353
Ensembl chrNW_004955414:19,652,990...19,847,964
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Stmn3 |
stathmin 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chrNW_004955528:577,536...583,850
Ensembl chrNW_004955528:577,536...583,850
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Stxbp1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 PMID:19557857 PMID:20603329 PMID:20876469 PMID:20887364 PMID:21062273 PMID:21193638 PMID:21204804 PMID:21364700 PMID:21762454 PMID:21770924 PMID:21900502 PMID:22211739 PMID:22368301 PMID:22495311 PMID:22612257 PMID:22722545 PMID:23020937 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23858467 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25326390 PMID:25326635 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25533962 PMID:25556537 PMID:25640679 PMID:25658047 PMID:25693842 PMID:25714420 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26648591 PMID:26795593 PMID:26865513 PMID:26918652 PMID:26993267 PMID:27069701 PMID:27159321 PMID:27171548 PMID:27184330 PMID:27652284 PMID:27779742 PMID:27798625 PMID:28133863 PMID:28135719 PMID:28387360 PMID:28387369 PMID:28492532 PMID:28628100 PMID:28771251 PMID:28947817 PMID:29056246 PMID:29067685 PMID:29186148 PMID:29264391 PMID:29314583 PMID:29538625 PMID:29655203 PMID:29760947 PMID:29761117 PMID:29896790 PMID:30174244 PMID:30185235 PMID:30266908 PMID:30397338 PMID:30488659 PMID:30504930 PMID:30540253 PMID:30842647 PMID:30945278 PMID:31175295 PMID:31221716 PMID:31255830 PMID:31332438 PMID:31474318 PMID:31780880 PMID:31855252 PMID:32005694 PMID:32112430 PMID:32238909 PMID:32371413 PMID:32521962 PMID:32581362 PMID:32643187 PMID:32725632 PMID:32960281 PMID:33004838 PMID:33176815 PMID:33196034 PMID:33206935 PMID:33272087 PMID:34145886 PMID:34172529 PMID:34247411 PMID:34445196 PMID:34489640 PMID:34490615 PMID:35007884 PMID:35190816 PMID:35655584 PMID:36440324 More...
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NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759
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Swi5 |
SWI5 homologous recombination repair protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955570:799,332...808,368
Ensembl chrNW_004955570:799,332...808,368
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Syt8 |
synaptotagmin 8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:13,642,933...13,648,351
Ensembl chrNW_004955422:13,642,780...13,648,262
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Szt2 |
SZT2 subunit of KICSTOR complex |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955537:2,968,839...3,017,863
Ensembl chrNW_004955537:2,968,839...3,017,863
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G |
Taldo1 |
transaldolase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955476:11,356,601...11,364,573
Ensembl chrNW_004955476:11,356,603...11,364,259
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G |
Tbc1d13 |
TBC1 domain family member 13 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955570:1,180,154...1,192,525
Ensembl chrNW_004955570:1,180,179...1,190,517
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Tcfl5 |
transcription factor like 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955528:1,269,387...1,286,124
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G |
Tesk2 |
testis associated actin remodelling kinase 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955464:12,789,493...12,924,077
Ensembl chrNW_004955464:12,815,226...12,924,930
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Th |
tyrosine hydroxylase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137
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G |
Tmem115 |
transmembrane protein 115 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 PMID:30410802 |
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NCBI chrNW_004955532:2,155,885...2,161,499
Ensembl chrNW_004955532:2,155,885...2,161,016
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Tmem267 |
transmembrane protein 267 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955446:18,865,735...18,888,356
Ensembl chrNW_004955446:18,879,661...18,888,220
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Tmem53 |
transmembrane protein 53 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955464:13,552,963...13,577,528
Ensembl chrNW_004955464:13,552,922...13,577,528
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G |
Tmem63b |
transmembrane protein 63B |
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ISO |
ClinVar Annotator: match by term: TMEM63B-associated disorder |
ClinVar |
PMID:25741868 PMID:37421948 |
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NCBI chrNW_004955437:9,769,352...9,789,517
Ensembl chrNW_004955437:9,769,352...9,791,136
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G |
Tmem69 |
transmembrane protein 69 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955464:12,594,544...12,602,137
Ensembl chrNW_004955464:12,594,788...12,597,711
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G |
Tmem80 |
transmembrane protein 80 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955476:11,391,338...11,397,819
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G |
Tnfrsf6b |
TNF receptor superfamily member 6b |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chrNW_004955528:529,817...531,577
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G |
Tnk2 |
tyrosine kinase non receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955420:12,302,463...12,337,976
Ensembl chrNW_004955420:12,300,572...12,338,058
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G |
Tnni2 |
troponin I2, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:13,649,827...13,652,342
Ensembl chrNW_004955422:13,650,515...13,652,247
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G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:13,702,015...13,718,915
Ensembl chrNW_004955422:13,702,015...13,718,915
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G |
Toe1 |
target of EGR1, exonuclease |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955464:12,924,185...12,927,567
Ensembl chrNW_004955464:12,924,191...12,927,567
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G |
Tollip |
toll interacting protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955476:10,987,223...11,009,134
Ensembl chrNW_004955476:10,987,223...11,010,808
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G |
Tor1a |
torsin family 1 member A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:30,655...36,299
Ensembl chrNW_004955513:30,655...36,360
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G |
Tor1b |
torsin family 1 member B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:23,118...29,401
Ensembl chrNW_004955513:23,118...29,401
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G |
Tor2a |
torsin family 2 member A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955419:922,901...926,624
Ensembl chrNW_004955419:922,901...926,624
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G |
Tpd52l2 |
TPD52 like 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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|
NCBI chrNW_004955528:371,761...389,714
Ensembl chrNW_004955528:371,761...389,705
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G |
Traip |
TRAF interacting protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chrNW_004955532:1,725,608...1,746,690
Ensembl chrNW_004955532:1,726,061...1,746,591
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G |
Trpm5 |
transient receptor potential cation channel subfamily M member 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955422:14,180,067...14,202,041
Ensembl chrNW_004955422:14,180,475...14,196,955
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G |
Trub2 |
TruB pseudouridine synthase family member 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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|
NCBI chrNW_004955570:826,776...837,116
Ensembl chrNW_004955570:814,725...837,116
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Tsc1 |
TSC complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:2,197,037...2,244,992
Ensembl chrNW_004955513:2,197,037...2,244,992
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Tspan1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955464:12,089,589...12,095,000
Ensembl chrNW_004955464:12,090,038...12,094,827
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Tspan32 |
tetraspanin 32 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:14,101,833...14,121,784
Ensembl chrNW_004955422:14,101,833...14,116,101
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Tspan4 |
tetraspanin 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955476:11,277,881...11,291,008
Ensembl chrNW_004955476:11,277,881...11,289,896
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Tssc4 |
tumor suppressing subtransferable candidate 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955422:14,175,271...14,178,991
Ensembl chrNW_004955422:14,175,271...14,178,991
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G |
Ttc16 |
tetratricopeptide repeat domain 16 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955419:926,561...940,368
Ensembl chrNW_004955419:926,723...940,138
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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14738421 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23195492 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25995458 PMID:26068938 PMID:27465585 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chrNW_004955449:8,242,327...8,306,012
Ensembl chrNW_004955449:8,241,990...8,308,562
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Ttf1 |
transcription termination factor 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:1,804,690...1,829,705
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Tusc2 |
tumor suppressor 2, mitochondrial calcium regulator |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chrNW_004955532:2,128,430...2,131,235
Ensembl chrNW_004955532:2,128,430...2,131,235
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Uba5 |
ubiquitin like modifier activating enzyme 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 PMID:33811063 More...
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NCBI chrNW_004955501:5,841,516...5,864,304
Ensembl chrNW_004955501:5,841,606...5,870,953
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Uba7 |
ubiquitin like modifier activating enzyme 7 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chrNW_004955532:1,697,667...1,706,668
Ensembl chrNW_004955532:1,695,956...1,706,676
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Uck1 |
uridine-cytidine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:1,203,934...1,208,720
Ensembl chrNW_004955513:1,203,934...1,208,724
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Uckl1 |
uridine-cytidine kinase 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955528:297,952...311,306
Ensembl chrNW_004955528:297,952...311,306
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Urm1 |
ubiquitin related modifier 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chrNW_004955570:876,487...894,045
Ensembl chrNW_004955570:876,487...894,045
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Urod |
uroporphyrinogen decarboxylase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955464:13,226,271...13,228,908
Ensembl chrNW_004955464:13,221,551...13,229,253
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Usb1 |
U6 snRNA biogenesis phosphodiesterase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:15,572,884...15,580,108
Ensembl chrNW_004955433:15,572,881...15,579,509
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Usp20 |
ubiquitin specific peptidase 20 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955513:43,601...70,714
Ensembl chrNW_004955513:42,809...70,906
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Ythdf1 |
YTH N6-methyladenosine RNA binding protein F1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955528:935,182...951,722
Ensembl chrNW_004955528:935,182...951,722
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G |
Zbtb34 |
zinc finger and BTB domain containing 34 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chrNW_004955419:1,608,348...1,645,561
Ensembl chrNW_004955419:1,615,987...1,638,282
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Zbtb43 |
zinc finger and BTB domain containing 43 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chrNW_004955419:1,660,186...1,681,701
Ensembl chrNW_004955419:1,660,186...1,681,701
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G |
Zbtb46 |
zinc finger and BTB domain containing 46 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chrNW_004955528:438,826...485,484
Ensembl chrNW_004955528:438,859...475,543
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G |
Zdhhc12 |
zinc finger DHHC-type palmitoyltransferase 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955570:1,131,234...1,133,909
Ensembl chrNW_004955570:1,131,234...1,133,909
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Zer1 |
zyg-11 related cell cycle regulator |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955570:1,138,477...1,153,246
Ensembl chrNW_004955570:1,138,477...1,152,198
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Zgpat |
zinc finger CCCH-type and G-patch domain containing |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chrNW_004955528:493,051...519,780
Ensembl chrNW_004955528:493,051...519,780
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G |
Zmynd10 |
zinc finger MYND-type containing 10 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 PMID:30410802 |
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NCBI chrNW_004955532:2,142,114...2,147,622
Ensembl chrNW_004955532:2,142,229...2,147,621
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Znf131 |
zinc finger protein 131 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955446:19,066,902...19,106,458
Ensembl chrNW_004955446:19,065,927...19,106,456
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G |
Znf319 |
zinc finger protein 319 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chrNW_004955433:15,561,801...15,567,417
Ensembl chrNW_004955433:15,561,801...15,567,417
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G |
Znf512b |
zinc finger protein 512B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955528:288,494...297,850
Ensembl chrNW_004955528:288,735...294,898
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G |
Znf79 |
zinc finger protein 79 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chrNW_004955419:1,157,721...1,168,330
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G |
Zswim5 |
zinc finger SWIM-type containing 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955464:13,049,717...13,226,274
Ensembl chrNW_004955464:13,049,706...13,223,579
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G |
Akap4 |
A-kinase anchoring protein 4 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:1,358,086...1,367,838
Ensembl chrNW_004955543:1,357,997...1,367,897
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Araf |
A-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955516:521,479...532,980
Ensembl chrNW_004955516:521,479...533,212
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G |
Bmp15 |
bone morphogenetic protein 15 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:2,304,112...2,345,376
Ensembl chrNW_004955543:2,339,659...2,345,406
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364
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G |
Ccdc120 |
coiled-coil domain containing 120 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:577,078...594,076
Ensembl chrNW_004955543:587,321...592,544
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Ccdc22 |
coiled-coil domain containing 22 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753
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G |
Ccnb3 |
cyclin B3 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:1,377,932...1,444,327
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G |
Cdk16 |
cyclin dependent kinase 16 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955516:860,474...873,338
Ensembl chrNW_004955516:860,480...873,338
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G |
Cfp |
complement factor properdin |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
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Dgkk |
diacylglycerol kinase kappa |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:1,468,328...1,601,101
Ensembl chrNW_004955543:1,468,328...1,601,101
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G |
Ebp |
EBP cholestenol delta-isomerase |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
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G |
Elk1 |
ETS transcription factor ELK1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955516:431,081...444,871
Ensembl chrNW_004955516:430,775...444,871
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Eras |
ES cell expressed Ras |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:381,756...383,093
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G |
Foxp3 |
forkhead box P3 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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G |
Ftsj1 |
FtsJ RNA 2'-O-methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:42,524...49,835
Ensembl chrNW_004955543:40,728...53,111
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Gata1 |
GATA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061
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G |
Glod5 |
glyoxalase domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:320,087...321,311
Ensembl chrNW_004955543:319,985...323,393
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Gpkow |
G-patch domain and KOW motifs |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:625,247...633,065
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G |
Gripap1 |
GRIP1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:500,340...527,243
Ensembl chrNW_004955543:500,340...527,267
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G |
Hdac6 |
histone deacetylase 6 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:348,314...378,391
Ensembl chrNW_004955543:348,019...378,071
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G |
Kcnd1 |
potassium voltage-gated channel subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:487,312...500,232
Ensembl chrNW_004955543:487,312...498,626
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G |
Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955516:934,740...937,207
Ensembl chrNW_004955516:934,740...937,207
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G |
Otud5 |
OTU deubiquitinase 5 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:452,172...484,564
Ensembl chrNW_004955543:452,121...484,560
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G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:383,984...387,885
Ensembl chrNW_004955543:384,123...387,744
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G |
Pim2 |
Pim-2 proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:444,314...449,201
Ensembl chrNW_004955543:444,314...449,201
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G |
Plp2 |
proteolipid protein 2 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:658,617...662,441
Ensembl chrNW_004955543:658,486...662,441
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G |
Porcn |
porcupine O-acyltransferase |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:75,870...91,575
Ensembl chrNW_004955543:75,875...91,975
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G |
Ppp1r3f |
protein phosphatase 1 regulatory subunit 3F |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:750,094...767,894
Ensembl chrNW_004955543:750,323...766,797
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G |
Pqbp1 |
polyglutamine binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:430,324...434,205
Ensembl chrNW_004955543:430,853...434,205
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G |
Praf2 |
PRA1 domain family member 2 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:594,662...597,695
Ensembl chrNW_004955543:594,606...598,264
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G |
Prickle3 |
prickle planar cell polarity protein 3 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:662,438...673,386
Ensembl chrNW_004955543:662,438...673,662
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G |
Rbm10 |
RNA binding motif protein 10 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955516:904,852...934,313
Ensembl chrNW_004955516:904,062...934,313
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G |
Rbm3 |
RNA binding motif protein 3 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:166,891...173,987
Ensembl chrNW_004955543:166,891...170,488
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G |
Shroom4 |
shroom family member 4 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:1,810,125...2,046,144
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G |
Slc35a2 |
solute carrier family 35 member A2 |
|
ISO |
ClinVar Annotator: match by term: CDG IIm | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
OMIM ClinVar |
PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:25877686 PMID:26350515 PMID:26467025 PMID:28492532 PMID:28771251 PMID:29907092 PMID:30194038 PMID:30653653 PMID:30746764 PMID:30817854 PMID:34161696 PMID:38177409 More...
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NCBI chrNW_004955543:434,265...443,460
Ensembl chrNW_004955543:434,405...443,508
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G |
Slc38a5 |
solute carrier family 38 member 5 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:15,968...24,644
Ensembl chrNW_004955543:16,089...24,668
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G |
Spaca5 |
sperm acrosome associated 5 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955516:103,674...106,082
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G |
Suv39h1 |
SUV39H1 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:258,479...271,128
Ensembl chrNW_004955543:258,479...272,473
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G |
Syn1 |
synapsin I |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955516:460,258...521,484
Ensembl chrNW_004955516:460,198...521,484
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G |
Syp |
synaptophysin |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:675,294...689,579
Ensembl chrNW_004955543:675,294...689,686
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G |
Tbc1d25 |
TBC1 domain family member 25 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:127,314...154,235
Ensembl chrNW_004955543:127,162...154,235
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G |
Tfe3 |
transcription factor binding to IGHM enhancer 3 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:547,037...561,073
Ensembl chrNW_004955543:547,037...561,073
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G |
Timm17b |
translocase of inner mitochondrial membrane 17B |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:425,076...430,767
Ensembl chrNW_004955543:425,076...430,767
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
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G |
Uba1 |
ubiquitin like modifier activating enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955516:876,542...898,763
Ensembl chrNW_004955516:876,354...891,206
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G |
Usp11 |
ubiquitin specific peptidase 11 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955516:840,708...858,201
Ensembl chrNW_004955516:841,114...857,322
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G |
Usp27x |
ubiquitin specific peptidase 27 X-linked |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:1,023,931...1,027,048
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G |
Uxt |
ubiquitously expressed prefoldin like chaperone |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955516:421,402...429,804
Ensembl chrNW_004955516:420,616...430,134
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G |
Was |
WASP actin nucleation promoting factor |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:243,618...253,489
Ensembl chrNW_004955543:247,631...253,274
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G |
Wdr13 |
WD repeat domain 13 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955543:182,279...190,435
Ensembl chrNW_004955543:182,279...190,435
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G |
Wdr45 |
WD repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963
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G |
Znf157 |
zinc finger protein 157 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955516:692,871...727,103
Ensembl chrNW_004955516:692,871...727,103
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G |
Znf182 |
zinc finger protein 182 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955516:93,596...148,739
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|
G |
Znf41 |
zinc finger protein 41 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955516:611,591...646,109
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G |
Znf81 |
zinc finger protein 81 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955516:215,370...312,684
Ensembl chrNW_004955516:219,262...248,215
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|
|
G |
Abca3 |
ATP binding cassette subfamily A member 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:14,933,550...14,989,492
Ensembl chrNW_004955442:14,933,550...14,989,492
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G |
Aldh7a1 |
aldehyde dehydrogenase 7 family member A1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:23953072 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129
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|
G |
Alg13 |
ALG13 UDP-N-acetylglucosaminyltransferase subunit |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955490:4,069,866...4,140,494
Ensembl chrNW_004955490:4,069,494...4,140,532
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G |
Amdhd2 |
amidohydrolase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955442:14,775,528...14,791,650
Ensembl chrNW_004955442:14,782,755...14,791,649
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G |
Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:35638461 |
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NCBI chrNW_004955475:4,020,922...4,214,464
Ensembl chrNW_004955475:4,017,632...4,214,563
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G |
Arx |
aristaless related homeobox |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
OMIM ClinVar |
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12177367 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12379852 PMID:12640086 PMID:12874418 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15726411 PMID:15850492 PMID:16078051 PMID:16199547 PMID:16235064 PMID:16523516 PMID:16995578 PMID:17331656 PMID:17480217 PMID:17490853 PMID:17576681 PMID:17641262 PMID:17664401 PMID:17668384 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19507262 PMID:19605412 PMID:19606478 PMID:19738637 PMID:20148114 PMID:20300201 PMID:20506206 PMID:21108397 PMID:21204215 PMID:21204226 PMID:21496008 PMID:22252899 PMID:22922607 PMID:23039062 PMID:23246292 PMID:23757202 PMID:24643514 PMID:24781210 PMID:25741868 PMID:26029707 PMID:26337422 PMID:26467025 PMID:27864847 PMID:28174645 PMID:28387369 PMID:28492532 PMID:29152528 PMID:29778428 PMID:30108342 PMID:30255221 PMID:30552426 PMID:31145546 PMID:31324350 PMID:31623504 PMID:31691806 PMID:31791873 PMID:32139178 PMID:32313153 PMID:32383243 PMID:32613771 PMID:33951346 PMID:34992632 PMID:35121198 More...
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NCBI chrNW_004955509:5,326,145...5,338,250
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G |
Atmin |
ATM interactor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chrNW_004955522:3,829,875...3,835,449
Ensembl chrNW_004955522:3,829,865...3,835,449
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G |
Atp6v0c |
ATPase H+ transporting V0 subunit c |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955442:14,791,795...14,798,066
Ensembl chrNW_004955442:14,791,795...14,798,066
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G |
Bco1 |
beta-carotene oxygenase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chrNW_004955522:3,985,515...4,018,116
Ensembl chrNW_004955522:3,985,266...4,018,886
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G |
Bicdl2 |
BICD family like cargo adaptor 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955442:14,306,144...14,314,060
Ensembl chrNW_004955442:14,306,041...14,313,620
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G |
Bricd5 |
BRICHOS domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,054,116...15,056,506
Ensembl chrNW_004955442:15,055,513...15,060,526
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32461667 PMID:32820246 PMID:32960281 PMID:33497533 More...
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NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
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G |
Caskin1 |
CASK interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,075,427...15,092,786
Ensembl chrNW_004955442:15,030,219...15,092,786
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G |
Ccnf |
cyclin F |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:28951997 PMID:29358611 PMID:30866059 More...
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NCBI chrNW_004955442:14,864,935...14,890,802
Ensembl chrNW_004955442:14,865,954...14,890,709
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G |
Cdkl5 |
cyclin dependent kinase like 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485
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G |
Cdyl2 |
chromodomain Y like 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chrNW_004955522:3,403,542...3,458,029
Ensembl chrNW_004955522:3,409,054...3,571,178
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G |
Cenpn |
centromere protein N |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chrNW_004955522:3,801,856...3,818,675
Ensembl chrNW_004955522:3,804,578...3,818,885
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G |
Cfap96 |
cilia and flagella associated protein 96 |
|
ISO |
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
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NCBI chrNW_004955403:23,617,764...23,634,689
Ensembl chrNW_004955403:23,619,399...23,634,731
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G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955416:21,085,570...21,210,321
Ensembl chrNW_004955416:21,085,570...21,210,321
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G |
Cldn6 |
claudin 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955442:14,323,193...14,326,311
Ensembl chrNW_004955442:14,323,193...14,326,311
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G |
Cldn9 |
claudin 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955442:14,326,705...14,328,150
Ensembl chrNW_004955442:14,327,140...14,327,793
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G |
Cmc2 |
C-X9-C motif containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chrNW_004955522:3,774,136...3,801,892
Ensembl chrNW_004955522:3,773,997...3,802,336
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G |
Cmip |
c-Maf inducing protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chrNW_004955522:4,128,454...4,314,340
Ensembl chrNW_004955522:4,128,454...4,315,322
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G |
Csnk1e |
casein kinase 1 epsilon |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
|
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NCBI chrNW_004955413:24,560,889...24,591,669
Ensembl chrNW_004955413:24,560,900...24,591,669
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G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,028,168...15,031,110
Ensembl chrNW_004955442:15,028,168...15,031,110
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G |
Dnm1 |
dynamin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:27066543 PMID:28667181 PMID:29397573 PMID:30097719 PMID:32909139 PMID:36413998 More...
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NCBI chrNW_004955570:752,335...781,770
Ensembl chrNW_004955570:752,335...781,770
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G |
Dynlrb2 |
dynein light chain roadblock-type 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chrNW_004955522:3,353,087...3,364,276
Ensembl chrNW_004955522:3,353,087...3,365,045
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G |
E4f1 |
E4F transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,031,210...15,041,437
Ensembl chrNW_004955442:15,030,363...15,041,877
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G |
Eci1 |
enoyl-CoA delta isomerase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,010,412...15,027,014
Ensembl chrNW_004955442:15,010,412...15,027,014
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G |
Elob |
elongin B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:14,498,666...14,501,895
Ensembl chrNW_004955442:14,498,725...14,502,135
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G |
Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,492,925...15,496,639
Ensembl chrNW_004955442:15,493,911...15,496,620
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G |
Fahd1 |
fumarylacetoacetate hydrolase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,450,066...15,451,797
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G |
Flywch1 |
FLYWCH-type zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:14,392,901...14,419,178
Ensembl chrNW_004955442:14,386,276...14,418,328
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G |
Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955533:2,879,437...2,938,952
Ensembl chrNW_004955533:2,573,599...2,938,952
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G |
Gan |
gigaxonin |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chrNW_004955522:4,035,672...4,096,845
Ensembl chrNW_004955522:4,035,672...4,090,630
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G |
Gcsh |
glycine cleavage system protein H |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chrNW_004955522:3,858,156...3,869,730
Ensembl chrNW_004955522:3,857,628...3,870,228
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G |
Gfer |
growth factor, augmenter of liver regeneration |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,280,753...15,283,405
Ensembl chrNW_004955442:15,281,419...15,283,266
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G |
Gnao1 |
G protein subunit alpha o1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955433:14,004,813...14,170,631
Ensembl chrNW_004955433:14,004,813...14,172,707
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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ISO |
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955513:5,154,864...5,178,636
Ensembl chrNW_004955513:5,154,864...5,178,636
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G |
Hagh |
hydroxyacylglutathione hydrolase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,451,910...15,465,211
Ensembl chrNW_004955442:15,451,910...15,465,211
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G |
Hcfc1r1 |
host cell factor C1 regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:14,318,071...14,319,549
Ensembl chrNW_004955442:14,318,071...14,319,549
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G |
Hcn1 |
hyperpolarization activated cyclic nucleotide gated potassium channel 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24747641 |
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NCBI chrNW_004955446:17,146,915...17,457,843
Ensembl chrNW_004955446:17,151,311...17,457,888
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G |
Hnrnpu |
heterogeneous nuclear ribonucleoprotein U |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
|
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NCBI chrNW_004955406:8,000,269...8,021,554
Ensembl chrNW_004955406:8,000,269...8,021,554
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G |
Hs3st6 |
heparan sulfate-glucosamine 3-sulfotransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,337,106...15,344,453
Ensembl chrNW_004955442:15,337,106...15,347,251
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G |
Igfals |
insulin like growth factor binding protein acid labile subunit |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,469,602...15,482,115
Ensembl chrNW_004955442:15,478,202...15,482,115
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G |
Itpa |
inosine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:26224535 PMID:28492532 |
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NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
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G |
Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 More...
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NCBI chrNW_004955435:14,074,346...14,080,026
Ensembl chrNW_004955435:14,074,346...14,078,806
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955528:737,416...792,885
Ensembl chrNW_004955528:737,416...791,321
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G |
Kctd5 |
potassium channel tetramerization domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955442:14,658,612...14,684,928
Ensembl chrNW_004955442:14,658,612...14,684,928
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G |
Kremen2 |
kringle containing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:14,376,466...14,381,106
Ensembl chrNW_004955442:14,376,466...14,381,106
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G |
LOC102030116 |
chromosome unknown open reading frame, human C16orf46 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chrNW_004955522:3,845,029...3,853,167
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G |
Maf |
MAF bZIP transcription factor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24369382 PMID:24456803 PMID:25411445 PMID:25741868 PMID:26467025 PMID:27959697 PMID:28492532 PMID:29358611 PMID:29390993 PMID:30356099 PMID:31130284 PMID:31780880 PMID:31957018 More...
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NCBI chrNW_004955522:2,514,313...2,519,694
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G |
Mdh2 |
malate dehydrogenase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:36420423 |
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NCBI chrNW_004955456:14,819,406...14,833,547
Ensembl chrNW_004955456:14,819,406...14,837,142
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G |
Meiob |
meiosis specific with OB-fold |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,409,344...15,444,996
Ensembl chrNW_004955442:15,409,344...15,444,996
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G |
Mlst8 |
MTOR associated protein, LST8 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,056,363...15,060,300
Ensembl chrNW_004955442:15,056,363...15,060,300
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G |
Mmp25 |
matrix metallopeptidase 25 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955442:14,288,139...14,302,154
Ensembl chrNW_004955442:14,286,615...14,300,737
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G |
Mrps34 |
mitochondrial ribosomal protein S34 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,496,639...15,497,757
Ensembl chrNW_004955442:15,496,639...15,497,757
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G |
Msrb1 |
methionine sulfoxide reductase B1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,322,961...15,328,311
Ensembl chrNW_004955442:15,323,039...15,327,406
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G |
Napb |
NSF attachment protein beta |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:33189936 |
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NCBI chrNW_004955415:30,392,692...30,427,773
Ensembl chrNW_004955415:30,392,165...30,427,773
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G |
Ndufb10 |
NADH:ubiquinone oxidoreductase subunit B10 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,306,688...15,309,281
Ensembl chrNW_004955442:15,306,741...15,309,167
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G |
Nherf2 |
NHERF family PDZ scaffold protein 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,224,214...15,235,372
Ensembl chrNW_004955442:15,224,214...15,235,379
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G |
Noxo1 |
NADPH oxidase organizer 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,288,495...15,290,601
Ensembl chrNW_004955442:15,288,602...15,290,418
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G |
Npw |
neuropeptide W |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,241,140...15,244,387
Ensembl chrNW_004955442:15,241,231...15,242,064
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G |
Nrxn2 |
neurexin 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
|
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NCBI chrNW_004955422:20,444,109...20,551,870
Ensembl chrNW_004955422:20,391,722...20,551,870
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G |
Nthl1 |
nth like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,210,799...15,223,272
Ensembl chrNW_004955442:15,217,019...15,223,272
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G |
Ntn3 |
netrin 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:14,838,076...14,840,857
Ensembl chrNW_004955442:14,838,076...14,840,857
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G |
Nubp2 |
NUBP iron-sulfur cluster assembly factor 2, cytosolic |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,482,916...15,486,830
Ensembl chrNW_004955442:15,483,549...15,486,741
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G |
Pacs2 |
phosphofurin acidic cluster sorting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:26626314 PMID:28135719 PMID:28191890 PMID:28492532 PMID:28628100 PMID:28867141 PMID:29656858 PMID:30290155 PMID:30904718 PMID:31036916 PMID:31231135 PMID:32416568 PMID:33243487 PMID:34782754 PMID:35770754 PMID:36474027 More...
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NCBI chrNW_004955538:3,559,738...3,616,862
Ensembl chrNW_004955538:3,559,724...3,619,649
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G |
Paqr4 |
progestin and adipoQ receptor family member 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955442:14,373,092...14,375,862
Ensembl chrNW_004955442:14,373,092...14,375,862
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G |
Pcdh19 |
protocadherin 19 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955503:6,428,894...6,567,253
Ensembl chrNW_004955503:6,434,047...6,567,253
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G |
Pcyt1b |
phosphate cytidylyltransferase 1B, choline |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
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NCBI chrNW_004955509:4,896,208...4,990,101
Ensembl chrNW_004955509:4,896,190...4,990,149
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G |
Pdk3 |
pyruvate dehydrogenase kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
|
NCBI chrNW_004955509:4,809,422...4,888,802
Ensembl chrNW_004955509:4,809,399...4,878,976
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G |
Pdpk1 |
3-phosphoinositide dependent protein kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955442:14,685,089...14,772,870
Ensembl chrNW_004955442:14,685,153...14,772,870
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G |
Pgp |
phosphoglycolate phosphatase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,051,149...15,053,123
Ensembl chrNW_004955442:15,051,183...15,052,289
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377
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G |
Pkd1l2 |
polycystin-1-like protein 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chrNW_004955522:3,877,806...3,963,197
Ensembl chrNW_004955522:3,877,986...3,963,188
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G |
Pkmyt1 |
protein kinase, membrane associated tyrosine/threonine 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955442:14,368,110...14,372,365
Ensembl chrNW_004955442:14,364,031...14,372,365
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G |
Plcb1 |
phospholipase C beta 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955415:18,210,608...18,915,099
Ensembl chrNW_004955415:18,210,662...18,915,158
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G |
Plcg2 |
phospholipase C gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
|
NCBI chrNW_004955522:4,352,890...4,480,735
Ensembl chrNW_004955522:4,358,233...4,468,986
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G |
Pola1 |
DNA polymerase alpha 1, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
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NCBI chrNW_004955509:5,007,385...5,319,683
Ensembl chrNW_004955509:5,007,182...5,319,894
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G |
Prss22 |
serine protease 22 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955442:14,618,859...14,623,508
Ensembl chrNW_004955442:14,618,859...14,623,508
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G |
Prss27 |
serine protease 27 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955442:14,636,739...14,656,877
Ensembl chrNW_004955442:14,651,902...14,656,877
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G |
Prss33 |
serine protease 33 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955442:14,521,485...14,524,632
Ensembl chrNW_004955442:14,521,485...14,524,632
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G |
Prss41 |
serine protease 41 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955442:14,527,717...14,532,265
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G |
Rab26 |
RAB26, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,114,333...15,119,481
Ensembl chrNW_004955442:15,114,333...15,120,123
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G |
Reps2 |
RALBP1 associated Eps domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955519:1,131,027...1,358,313
Ensembl chrNW_004955519:1,136,519...1,358,313
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G |
Rnf151 |
ring finger protein 151 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,300,228...15,303,645
Ensembl chrNW_004955442:15,300,178...15,302,171
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G |
Rnps1 |
RNA binding protein with serine rich domain 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:14,995,404...15,009,358
Ensembl chrNW_004955442:14,995,404...15,009,358
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G |
Rpl3l |
ribosomal protein L3 like |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,311,336...15,322,578
Ensembl chrNW_004955442:15,313,729...15,322,578
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G |
Rps2 |
ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chrNW_004955442:15,304,306...15,306,599
|
|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:11940708 PMID:12083760 PMID:16458823 PMID:17347258 PMID:18804930 PMID:18930999 PMID:20522430 PMID:21248271 PMID:22151702 PMID:23195492 PMID:23808377 PMID:25741868 PMID:26096185 PMID:26467025 PMID:26544041 PMID:28079314 PMID:28387369 PMID:28492532 PMID:29100083 PMID:30619928 PMID:31864146 PMID:32056211 PMID:32090326 PMID:35571373 More...
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NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
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Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
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Slc25a12 |
solute carrier family 25 member 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955449:3,093,603...3,182,513
Ensembl chrNW_004955449:3,093,603...3,186,737
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Spsb3 |
splA/ryanodine receptor domain and SOCS box containing 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,486,845...15,493,422
Ensembl chrNW_004955442:15,487,475...15,493,422
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Srrm2 |
serine/arginine repetitive matrix 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:14,478,350...14,498,152
Ensembl chrNW_004955442:14,482,154...14,497,639
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St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955537:3,258,076...3,458,742
Ensembl chrNW_004955537:3,258,076...3,458,742
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Syngr3 |
synaptogyrin 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,273,597...15,277,740
Ensembl chrNW_004955442:15,272,692...15,277,765
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Synj1 |
synaptojanin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955407:32,094,076...32,175,676
Ensembl chrNW_004955407:32,093,479...32,175,795
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Szt2 |
SZT2 subunit of KICSTOR complex |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955537:2,968,839...3,017,863
Ensembl chrNW_004955537:2,968,839...3,017,863
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Tbc1d24 |
TBC1 domain family member 24 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms |
ClinVar |
PMID:1029242 PMID:3402014 PMID:9536098 PMID:10574461 PMID:10741954 PMID:16199547 PMID:16855591 PMID:17576681 PMID:18414213 PMID:20727515 PMID:20797691 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24729539 PMID:24729547 PMID:24848745 PMID:25169651 PMID:25326637 PMID:25401298 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:27669036 PMID:27784474 PMID:28072960 PMID:28252636 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:28726039 PMID:28951997 PMID:29100083 PMID:29176366 PMID:29358611 PMID:29429257 PMID:29655203 PMID:29671961 PMID:29933521 PMID:30108545 PMID:30139988 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30680869 PMID:30776697 PMID:30866059 PMID:31112829 PMID:31216405 PMID:31257402 PMID:31618474 PMID:31780880 PMID:31922275 PMID:32004315 PMID:32369273 PMID:32581362 PMID:32860223 PMID:33063868 PMID:33229591 PMID:33281559 PMID:33333793 PMID:33619735 PMID:33726816 PMID:33986365 PMID:34020146 PMID:34852372 PMID:35350397 PMID:36413997 More...
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NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
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Tbl3 |
transducin beta like 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,290,759...15,297,070
Ensembl chrNW_004955442:15,290,759...15,297,442
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Tedc2 |
tubulin epsilon and delta complex 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:14,856,517...14,862,391
Ensembl chrNW_004955442:14,856,269...14,862,338
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Thoc6 |
THO complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:14,314,100...14,317,726
Ensembl chrNW_004955442:14,314,100...14,317,724
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Tnfrsf12a |
TNF receptor superfamily member 12A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:14,320,159...14,322,146
Ensembl chrNW_004955442:14,320,159...14,322,146
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Traf7 |
TNF receptor associated factor 7 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,092,955...15,112,842
Ensembl chrNW_004955442:15,092,955...15,112,840
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Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
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Ufsp2 |
UFM1 specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
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NCBI chrNW_004955403:23,634,967...23,655,429
Ensembl chrNW_004955403:23,634,924...23,655,429
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Wwox |
WW domain containing oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms |
ClinVar |
PMID:9536098 PMID:11572989 PMID:11956080 PMID:16199547 PMID:17576681 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24369382 PMID:24456803 PMID:25403906 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25640679 PMID:25741868 PMID:26077850 PMID:26467025 PMID:27495153 PMID:27569545 PMID:27717089 PMID:27848944 PMID:27884173 PMID:27959697 PMID:28130116 PMID:28492532 PMID:29358611 PMID:29390993 PMID:29675105 PMID:29808465 PMID:29852413 PMID:29905011 PMID:30356099 PMID:30746283 PMID:30853297 PMID:30919572 PMID:31130284 PMID:31216405 PMID:31618474 PMID:31623504 PMID:31780880 PMID:31957018 PMID:35573960 PMID:35701389 More...
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NCBI chrNW_004955522:1,265,732...2,185,372
Ensembl chrNW_004955522:1,265,404...2,184,562
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Zg16b |
zymogen granule protein 16B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:14,569,492...14,572,282
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Znf598 |
zinc finger protein 598, E3 ubiquitin ligase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chrNW_004955442:15,253,649...15,265,420
Ensembl chrNW_004955442:15,252,927...15,269,087
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Zscan10 |
zinc finger and SCAN domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955442:14,270,056...14,280,877
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Fbxo28 |
F-box protein 28 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 100 |
ClinVar OMIM |
PMID:25356899 PMID:25741868 PMID:33280099 |
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NCBI chrNW_004955520:1,169,624...1,198,277
Ensembl chrNW_004955520:1,169,447...1,198,426
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Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 101 |
OMIM ClinVar |
PMID:25741868 PMID:27164704 PMID:28492532 PMID:31219694 PMID:34611970 |
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NCBI chrNW_004955513:5,154,864...5,178,636
Ensembl chrNW_004955513:5,154,864...5,178,636
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Slc38a3 |
solute carrier family 38 member 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 102 |
OMIM ClinVar |
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