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G |
Abhd16b |
abhydrolase domain containing 16B |
|
ISO |
ClinVar Annotator: match by term: Early infantile 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 chr 3:168,594,677...168,596,574
Ensembl chr 3:168,594,609...168,619,762
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G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
|
|
G |
Adgrg1 |
adhesion G protein-coupled receptor G1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
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|
G |
Adgrg3 |
adhesion G protein-coupled receptor G3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:9,972,425...10,001,118
Ensembl chr19:9,972,430...10,001,123
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|
G |
Adgrg5 |
adhesion G protein-coupled receptor G5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,074,787...10,098,640
Ensembl chr19:10,079,375...10,097,214
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|
G |
Adrm1 |
ADRM1 26S proteasome ubiquitin receptor |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,265,435...167,270,197
Ensembl chr 3:167,265,296...167,270,195
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|
G |
Aif1l |
allograft inflammatory factor 1-like |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:15,229,476...15,254,033
Ensembl chr 3:15,229,524...15,254,023
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|
G |
Ak1 |
adenylate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
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|
G |
Ak8 |
adenylate kinase 8 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,028,895...12,144,468
Ensembl chr 3:12,028,954...12,144,465
|
|
G |
Akr1a1 |
aldo-keto reductase family 1 member A1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,092,945...130,130,277
Ensembl chr 5:130,092,732...130,113,674
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|
G |
Amfr |
autocrine motility factor receptor |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247
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|
G |
Amigo3 |
adhesion molecule with Ig like domain 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555
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|
G |
Angptl2 |
angiopoietin-like 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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|
NCBI chr 3:16,517,185...16,547,024
Ensembl chr 3:16,517,420...16,548,178
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|
G |
Ano4 |
anoctamin 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:23,329,015...23,738,423
Ensembl chr 7:23,329,070...23,738,434
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G |
Ano9 |
anoctamin 9 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,208,863...196,230,381
Ensembl chr 1:196,197,341...196,229,900
|
|
G |
Ap2a2 |
adaptor related protein complex 2 subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,652,315...196,725,609
Ensembl chr 1:196,652,337...196,725,603
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|
G |
Apeh |
acylaminoacyl-peptide hydrolase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,773,791...108,782,903
Ensembl chr 8:108,773,794...108,782,933
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|
G |
Arfgap1 |
ADP-ribosylation factor GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933
|
|
G |
Arfrp1 |
ADP-ribosylation factor related protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile 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 chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914
|
|
G |
Arhgef15 |
Rho guanine nucleotide exchange factor 15 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr10:53,650,521...53,663,269
Ensembl chr10:53,650,553...53,663,913
|
|
G |
Arl2bp |
ADP-ribosylation factor like GTPase 2 binding protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
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|
G |
Armh1 |
armadillo-like helical domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,680,955...130,722,062
Ensembl chr 5:130,682,485...130,722,062
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|
G |
Art1 |
ADP-ribosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,478,096...156,487,172
Ensembl chr 1:156,482,621...156,487,172
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|
G |
Art5 |
ADP-ribosyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,473,362...156,483,324
Ensembl chr 1:156,473,362...156,483,324
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G |
Artn |
artemin |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
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G |
Arx |
aristaless related homeobox |
|
ISS |
OMIM:300088 | OMIM:300607 | OMIM:300672 | OMIM:308350 | OMIM:609304 | OMIM:612164 | OMIM:613402 | OMIM:613477 | OMIM:613720 | OMIM:613721 | OMIM:613722 | OMIM:614558 | OMIM:614959 | OMIM:615006 | OMIM:615338 | OMIM:615473 | OMIM:615476 |
MouseDO |
|
|
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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|
G |
Asb6 |
ankyrin repeat and SOCS box-containing 6 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,110,628...14,115,274
Ensembl chr 3:14,110,628...14,115,242
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|
G |
Ascl2 |
achaete-scute family bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,148,999...198,151,406
Ensembl chr 1:198,148,999...198,151,406
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|
G |
Ass1 |
argininosuccinate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
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|
G |
Atp6v0b |
ATPase H+ transporting V0 subunit B |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chr 5:131,423,384...131,424,900
Ensembl chr 5:131,423,387...131,426,401
|
|
G |
B4galnt4 |
beta-1,4-N-acetyl-galactosaminyl transferase 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,171,394...196,182,294
Ensembl chr 1:196,171,394...196,182,294
|
|
G |
B4galt2 |
beta-1,4-galactosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chr 5:131,412,541...131,422,573
Ensembl chr 5:131,412,541...131,421,013
|
|
G |
Barhl1 |
BarH-like homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649
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|
G |
Bbln |
bublin coiled coil protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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|
NCBI chr 3:15,674,577...15,677,322
Ensembl chr 3:15,674,580...15,677,374
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G |
Bbs2 |
Bardet-Biedl syndrome 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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G |
Best4 |
bestrophin 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,622,194...130,629,045
Ensembl chr 5:130,623,438...130,627,099
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G |
Bhlhe23 |
basic helix-loop-helix family, member e23 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,889,009...167,891,223
Ensembl chr 3:167,889,009...167,891,223
|
|
G |
Birc7 |
baculoviral IAP repeat-containing 7 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
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|
G |
Brsk2 |
BR serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,035,505...197,088,624
Ensembl chr 1:197,035,633...197,088,092
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G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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G |
Bsn |
bassoon (presynaptic cytomatrix protein) |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,784,849...108,875,819
Ensembl chr 8:108,788,542...108,875,819
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|
G |
Btbd19 |
BTB domain containing 19 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,596,966...130,605,403
Ensembl chr 5:130,597,684...130,604,335
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|
G |
C2h5orf34 |
similar to human chromosome 5 open reading frame 34 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:51,553,223...51,577,090
Ensembl chr 2:51,555,432...51,577,085
|
|
G |
C3h9orf50 |
similar to human chromosome 9 open reading frame 50 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,076,679...14,087,036
Ensembl chr 3:14,080,744...14,086,978
|
|
G |
C3h9orf78 |
similar to human chromosome 9 open reading frame 78 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,264,262...14,272,552
Ensembl chr 3:14,264,083...14,272,764
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|
G |
C8h3orf18 |
similar to human chromosome 3 open reading frame 18 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,012,638...108,022,050
Ensembl chr 8:108,012,638...108,022,461
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|
G |
Cables2 |
Cdk5 and Abl enzyme substrate 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,347,527...167,362,274
Ensembl chr 3:167,347,461...167,362,279
|
|
G |
Cacna1e |
calcium voltage-gated channel subunit alpha1 E |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:17660294 PMID:23934111 PMID:25741868 PMID:26680202 PMID:28135719 PMID:28492532 PMID:30343943 PMID:31785789 PMID:32695065 PMID:33776624 PMID:35937981 More...
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|
NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
|
|
G |
Cacna2d2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 PMID:31785789 PMID:33798445 PMID:36539902 More...
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|
NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
|
|
G |
Camkv |
CaM kinase-like vesicle-associated |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169
|
|
G |
Cars1 |
cysteinyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,753,689...198,796,016
Ensembl chr 1:198,753,691...198,795,941
|
|
G |
Ccdc102a |
coiled-coil domain containing 102A |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,102,543...10,118,657
Ensembl chr19:10,103,361...10,118,657
|
|
G |
Ccdc113 |
coiled-coil domain containing 113 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:9,497,000...9,516,917
Ensembl chr19:9,496,886...9,516,923
|
|
G |
Ccdc152 |
coiled-coil domain containing 152 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:52,507,987...52,532,880
Ensembl chr 2:52,507,981...52,532,826
|
|
G |
Ccdc17 |
coiled-coil domain containing 17 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,051,158...130,056,676
Ensembl chr 5:130,045,938...130,056,673
|
|
G |
Ccdc24 |
coiled-coil domain containing 24 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chr 5:131,398,766...131,412,395
Ensembl chr 5:131,408,143...131,412,029
|
|
G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
|
|
G |
Ccl22 |
C-C motif chemokine ligand 22 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
|
|
G |
Ccl28 |
C-C motif chemokine ligand 28 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997
|
|
G |
Cd151 |
CD151 molecule (Raph blood group) |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753
|
|
G |
Cd81 |
Cd81 molecule |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
|
|
G |
Cdhr4 |
cadherin-related family member 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,682,594...108,690,358
Ensembl chr 8:108,682,613...108,690,367
|
|
G |
Cdhr5 |
cadherin-related family member 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543
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G |
Cdk9 |
cyclin-dependent kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:32366967 |
|
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Cdkn1c |
cyclin-dependent kinase inhibitor 1C |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
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G |
Cel |
carboxyl ester lipase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
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G |
Cend1 |
cell cycle exit and neuronal differentiation 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302
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G |
Cercam |
cerebral endothelial cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID: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 chr 3:13,118,150...13,155,960
Ensembl chr 3:13,142,107...13,155,956
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G |
Cfap157 |
cilia and flagella associated protein 157 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:16,066,521...16,073,495
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G |
Cfap20 |
cilia and flagella associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
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NCBI chr19:9,608,867...9,622,558
Ensembl chr19:9,608,859...9,622,558
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G |
Cfap77 |
cilia and flagella associated protein 77 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,258,453...12,381,319
Ensembl chr 3:12,258,453...12,381,319
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G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
|
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NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
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G |
Chid1 |
chitinase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,594,357...196,629,700
Ensembl chr 1:196,587,509...196,629,606
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G |
Chrna10 |
cholinergic receptor nicotinic alpha 10 subunit |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,487,279...156,494,277
Ensembl chr 1:156,487,279...156,491,476
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G |
Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9425895 PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27054081 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 PMID:31418850 More...
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NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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G |
Ciapin1 |
cytokine induced apoptosis inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,179,963...10,195,511
Ensembl chr19:10,180,100...10,195,503
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G |
Cish |
cytokine inducible SH2-containing protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:107,972,306...107,977,254
Ensembl chr 8:107,972,306...107,977,250
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G |
Ciz1 |
CDKN1A interacting zinc finger protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762
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G |
Cngb1 |
cyclic nucleotide gated channel subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173
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G |
Cnot1 |
CCR4-NOT transcription complex, subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574
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G |
Col20a1 |
collagen type XX alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309
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G |
Col9a3 |
collagen type IX alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
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G |
Coq4 |
coenzyme Q4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID: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 chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799
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G |
Coq9 |
coenzyme Q9 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
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G |
Cpne2 |
copine 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,434,277...10,472,146
Ensembl chr19:10,434,277...10,471,820
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G |
Cracr2b |
calcium release activated channel regulator 2B |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,558,407...196,563,961
Ensembl chr 1:196,558,588...196,563,771
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G |
Crat |
carnitine O-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
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G |
Csnk2a2 |
casein kinase 2 alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25995458 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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G |
Ctsd |
cathepsin D |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G |
Cyb561d2 |
cytochrome b561 family, member D2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 PMID:30410802 |
|
NCBI chr 8:108,213,201...108,215,778
Ensembl chr 8:108,213,205...108,215,759
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G |
Dag1 |
dystroglycan 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Ddx31 |
DEAD-box helicase 31 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,172,829...12,238,392
Ensembl chr 3:12,172,836...12,238,873
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G |
Deaf1 |
DEAF1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
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G |
Dido1 |
death inducer-obliterator 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
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G |
Dmap1 |
DNA methyltransferase 1-associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:131,143,726...131,151,760
Ensembl chr 5:131,143,729...131,151,742
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G |
Dnajc5 |
DnaJ heat shock protein family (Hsp40) member C5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile 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 chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
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G |
Dnm1 |
dynamin 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
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G |
Dok4 |
docking protein 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,146,520...10,157,187
Ensembl chr19:10,146,474...10,158,203
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G |
Dolk |
dolichol kinase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917
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G |
Dolpp1 |
dolichyldiphosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:13,666,000...13,674,312
Ensembl chr 3:13,665,823...13,674,311
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G |
Dph2 |
diphthamide biosynthesis 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
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G |
Dpm2 |
dolichyl-phosphate mannosyltransferase subunit 2, regulatory |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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|
NCBI chr 3:15,855,952...15,858,867
Ensembl chr 3:15,856,182...15,869,165 Ensembl chr 3:15,856,182...15,869,165
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G |
Drc7 |
dynein regulatory complex subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:9,943,452...9,961,266
Ensembl chr19:9,943,456...9,961,163
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G |
Drd4 |
dopamine receptor D4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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G |
Dusp8 |
dual specificity phosphatase 8 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,167,392...197,184,285
Ensembl chr 1:197,169,422...197,182,921
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G |
Dync2i2 |
dynein 2 intermediate chain 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:22722545 PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 PMID:31332438 PMID:33206935 PMID:33578420 More...
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NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121
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G |
Dynlt4 |
dynein light chain Tctex-type 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,605,437...130,607,224
Ensembl chr 5:130,605,399...130,607,666
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G |
Eef1a2 |
eukaryotic translation elongation factor 1 alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27441201 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
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G |
Eeig1 |
estrogen-induced osteoclastogenesis regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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|
NCBI chr 3:15,822,441...15,854,651
Ensembl chr 3:15,823,144...15,854,643
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G |
Eif2b3 |
eukaryotic translation initiation factor 2B subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:130,492,220...130,563,332
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G |
Endog |
endonuclease G |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:13,449,113...13,451,715
Ensembl chr 3:13,449,086...13,451,932
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G |
Eng |
endoglin |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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|
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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G |
Eps8l2 |
EPS8-like 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541
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G |
Eri3 |
ERI1 exoribonuclease family member 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:131,016,146...131,143,347
Ensembl chr 5:131,016,126...131,143,329
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G |
Exosc2 |
exosome component 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,962,930...14,973,645
Ensembl chr 3:14,962,917...14,973,575
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G |
Fam78a |
family with sequence similarity 78, member A |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:15,355,958...15,376,330
Ensembl chr 3:15,355,955...15,373,812
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G |
Fgf10 |
fibroblast growth factor 10 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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G |
Fibcd1 |
fibrinogen C domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:15,092,682...15,126,371
Ensembl chr 3:15,092,681...15,126,399
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G |
Fnbp1 |
formin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,309,067...14,424,378
Ensembl chr 3:14,309,640...14,424,881
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G |
Fndc11 |
fibronectin type III domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617
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G |
Fpgs |
folylpolyglutamate synthase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
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G |
Fubp3 |
far upstream element binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,855,527...14,904,540
Ensembl chr 3:14,855,557...14,904,540
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G |
Gabra2 |
gamma-aminobutyric acid type A receptor subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:29422393 |
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NCBI chr14:37,097,251...37,230,030
Ensembl chr14:37,097,279...37,228,944
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25995458 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Garnl3 |
GTPase activating Rap/RanGAP domain-like 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,288,718...16,432,308
Ensembl chr 3:16,288,719...16,430,837
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G |
Gata5 |
GATA binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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G |
Gatd1 |
glutamine amidotransferase class 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551
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G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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G |
Ghr |
growth hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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G |
Gid8 |
GID complex subunit 8 homolog |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,826,006...167,836,759
Ensembl chr 3:167,826,060...167,834,814
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G |
Gins3 |
GINS complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,420,085...9,428,621
Ensembl chr19:9,420,086...9,428,687
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G |
Gle1 |
GLE1 RNA export mediator |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID: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 chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
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G |
Gmeb2 |
glucocorticoid modulatory element binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788
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G |
Gmppb |
GDP-mannose pyrophosphorylase B |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286
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G |
Gnai2 |
G protein subunit alpha i2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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G |
Gnao1 |
G protein subunit alpha o1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy |
ClinVar |
PMID:8521505 PMID:9108480 PMID:9536098 PMID:10419452 PMID:10615050 PMID:11285252 PMID:16199547 PMID:17576681 PMID:18434540 PMID:20177705 PMID:20668451 PMID:23993195 PMID:24608809 PMID:24982418 PMID:25356970 PMID:25363768 PMID:25533962 PMID:25590979 PMID:25640679 PMID:25741868 PMID:25944380 PMID:25966631 PMID:26060304 PMID:26467025 PMID:26485252 PMID:26518167 PMID:26595808 PMID:26633542 PMID:26795593 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:27916449 PMID:28135719 PMID:28191890 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28628939 PMID:28668776 PMID:28688840 PMID:28714951 PMID:28747448 PMID:28817111 PMID:29389947 PMID:29390993 PMID:29761117 PMID:29935962 PMID:30642806 PMID:30682224 PMID:30866059 PMID:31130284 PMID:31394400 PMID:31406558 PMID:31737037 PMID:31780880 PMID:32581362 PMID:32898863 PMID:33298085 PMID:34122306 PMID:35509770 PMID:35722775 PMID:35782616 PMID:37548038 PMID:37705601 More...
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NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
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G |
Gnat1 |
G protein subunit alpha transducin 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
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G |
Golga2 |
golgin A2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID: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 chr 3:15,583,862...15,604,279
Ensembl chr 3:15,584,039...15,604,279
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G |
Got2 |
glutamic-oxaloacetic transaminase 2 |
|
ISO ISS |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar MouseDO |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:25741868 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 PMID:31422819 More...
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NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
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G |
Gpbp1l1 |
GC-rich promoter binding protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,009,768...130,050,636
Ensembl chr 5:130,023,137...130,050,459
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G |
Gpr107 |
G protein-coupled receptor 107 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,431,704...14,497,623
Ensembl chr 3:14,434,723...14,495,958
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G |
Gtf3c4 |
general transcription factor IIIC subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,154,803...12,172,795
Ensembl chr 3:12,154,805...12,172,725
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G |
Gtf3c5 |
general transcription factor IIIC subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,893,867...11,914,187
Ensembl chr 3:11,893,875...11,914,180
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G |
H19 |
H19 imprinted maternally expressed transcript |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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G |
Hcn1 |
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:17931874 PMID:20437590 PMID:22131395 PMID:24747641 PMID:25640679 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 PMID:27541642 PMID:28166811 PMID:28488083 PMID:28492532 PMID:29056246 PMID:29186148 PMID:29933521 PMID:30351409 PMID:30776697 PMID:30986657 PMID:31069529 PMID:34055682 PMID:34621433 PMID:34712263 PMID:35845605 More...
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NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774
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G |
Hectd3 |
HECT domain E3 ubiquitin protein ligase 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,469,840...130,479,802
Ensembl chr 5:130,469,840...130,478,561
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G |
Helz2 |
helicase with zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159
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G |
Hemk1 |
HemK methyltransferase family member 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:107,999,658...108,010,732
Ensembl chr 8:107,999,644...108,010,256
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G |
Herpud1 |
homocysteine inducible ER protein with ubiquitin like domain 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,598,411...10,609,002
Ensembl chr19:10,598,417...10,618,424
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G |
Hmcn2 |
hemicentin 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,588,353...14,738,320
Ensembl chr 3:14,588,662...14,738,025
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G |
Hmgcs1 |
3-hydroxy-3-methylglutaryl-CoA synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100
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G |
Hpdl |
4-hydroxyphenylpyruvate dioxygenase-like |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233
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G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Hyal1 |
hyaluronidase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210
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G |
Hyal2 |
hyaluronidase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,241,895...108,246,853
Ensembl chr 8:108,243,133...108,246,850
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G |
Hyal3 |
hyaluronidase 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647
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G |
Ier5l |
immediate early response 5-like |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:13,744,056...13,745,647
Ensembl chr 3:13,744,078...13,745,647
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G |
Ifitm1 |
interferon induced transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169
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G |
Ifitm10 |
interferon induced transmembrane protein 10 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,507,501...197,524,180
Ensembl chr 1:197,507,503...197,525,151
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G |
Ifitm2 |
interferon induced transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,051,539...196,052,719
Ensembl chr 1:196,051,537...196,052,741
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G |
Ifitm3 |
interferon induced transmembrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,111,026...196,112,135
Ensembl chr 1:196,111,043...196,112,203
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G |
Ifitm5 |
interferon induced transmembrane protein 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232
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G |
Ifrd2 |
interferon-related developmental regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194
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G |
Igf2 |
insulin-like growth factor 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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G |
Inka1 |
inka box actin regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,674,263...108,675,953
Ensembl chr 8:108,674,263...108,675,953
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G |
Ins1 |
insulin 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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G |
Ins2 |
insulin 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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G |
Ip6k1 |
inositol hexakisphosphate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,693,068...108,737,278
|
|
G |
Ipo13 |
importin 13 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chr 5:131,433,770...131,454,044
Ensembl chr 5:131,433,776...131,454,043
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G |
Ipp |
intracisternal A particle-promoted polypeptide |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:129,962,528...130,001,237
Ensembl chr 5:129,962,643...130,001,242
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G |
Irf7 |
interferon regulatory factor 7 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
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G |
Itpa |
inosine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:26224535 |
|
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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G |
Katnb1 |
katanin regulatory subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:9,921,216...9,940,853
Ensembl chr19:9,921,219...9,940,650
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G |
Kcnb1 |
potassium voltage-gated channel subfamily B member 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy |
ClinVar |
PMID:25741868 PMID:26477325 PMID:28252636 PMID:28492532 PMID:28806457 PMID:29264397 PMID:29758562 PMID:31512327 PMID:31513310 PMID:31600826 PMID:32581362 PMID:32954514 PMID:33951346 More...
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NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
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G |
Kcnc2 |
potassium voltage-gated channel subfamily C member 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
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NCBI chr 7:47,700,035...47,883,979
Ensembl chr 7:47,700,288...47,883,968
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G |
Kcnh5 |
potassium voltage-gated channel subfamily H member 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:24133262 PMID:25741868 PMID:28166811 PMID:28492532 PMID:31440721 PMID:32725632 PMID:35874597 PMID:36307226 More...
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NCBI chr 6:93,615,174...93,908,107
Ensembl chr 6:93,624,529...93,908,107
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G |
Kcnq1 |
potassium voltage-gated channel subfamily Q member 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy |
ClinVar |
PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 PMID:9872318 PMID:10363917 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12742592 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14985406 PMID:15030501 PMID:15596469 PMID:15596769 PMID:16039833 PMID:16199547 PMID:16260777 PMID:16319223 PMID:16597729 PMID:16686649 PMID:16691402 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17290276 PMID:17475800 PMID:17576681 PMID:17675531 PMID:17872363 PMID:17993630 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:18625963 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19464834 PMID:19559753 PMID:19822871 PMID:20119593 PMID:20437616 PMID:20805988 PMID:21685056 PMID:21937445 PMID:22013194 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23166088 PMID:23271449 PMID:23360469 PMID:23440208 PMID:23453664 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23797855 PMID:23849776 PMID:23934111 PMID:23959892 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24586341 PMID:24759409 PMID:24811917 PMID:24848745 PMID:24904429 PMID:25046240 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25590979 PMID:25607374 PMID:25640679 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25921748 PMID:25951140 PMID:25959266 PMID:25960349 PMID:25982755 PMID:26007637 PMID:26030193 PMID:26070303 PMID:26073431 PMID:26138355 PMID:26148514 PMID:26446091 PMID:26467025 PMID:26469389 PMID:26544041 PMID:26704558 PMID:26758118 PMID:26795593 PMID:26993267 PMID:27030113 PMID:27054081 PMID:27334371 PMID:27441201 PMID:27466704 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27781031 PMID:27861786 PMID:27864847 PMID:27888506 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28420012 PMID:28492532 PMID:28503627 PMID:28602030 PMID:28628100 PMID:28631195 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28837158 PMID:28867141 PMID:28926830 PMID:28940419 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29286351 PMID:29314763 PMID:29358611 PMID:29383681 PMID:29390993 PMID:29429461 PMID:29455050 PMID:29588952 PMID:29644095 PMID:29655203 PMID:29694806 PMID:29720203 PMID:29726930 PMID:29760947 PMID:29852413 PMID:29933521 PMID:30109124 PMID:30126342 PMID:30174244 PMID:30182498 PMID:30185235 PMID:30440138 PMID:30459225 PMID:30478917 PMID:30552426 PMID:30776697 PMID:30866059 PMID:30945278 PMID:30977854 PMID:31019026 PMID:31069529 PMID:31152295 PMID:31164858 PMID:31199083 PMID:31295832 PMID:31302675 PMID:31418850 PMID:31440733 PMID:31512412 PMID:31552204 PMID:31564432 PMID:31780880 PMID:31832524 PMID:31957018 PMID:32139178 PMID:32165824 PMID:32179837 PMID:32184343 PMID:32362866 PMID:32488064 PMID:32573669 PMID:32581362 PMID:32613771 PMID:32712949 PMID:32770121 PMID:32860008 PMID:32917465 PMID:32942014 PMID:33333793 PMID:33659638 PMID:33754465 PMID:33860439 PMID:33897753 PMID:33935161 PMID:34020651 PMID:34055682 PMID:34120799 PMID:34136434 PMID:34354098 PMID:34395220 PMID:34489640 PMID:34711204 PMID:35104249 PMID:35377796 PMID:35468861 PMID:35557555 PMID:35701389 PMID:35770094 PMID:35906921 PMID:36539902 PMID:36849527 More...
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kif2c |
kinesin family member 2C |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,637,347...130,662,680
Ensembl chr 5:130,637,347...130,662,637
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G |
Kifc3 |
kinesin family member C3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,825,114...9,920,371
Ensembl chr19:9,886,693...9,920,451
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G |
Klf17 |
KLF transcription factor 17 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:131,293,068...131,315,878
Ensembl chr 5:131,307,476...131,315,084
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G |
Krtap5-1 |
keratin associated protein 5-1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:197,278,886...197,279,893
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G |
Kyat1 |
kynurenine aminotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:13,459,598...13,493,308
Ensembl chr 3:13,459,591...13,493,355
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G |
Lama5 |
laminin subunit alpha 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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G |
Lamc3 |
laminin subunit gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,165,220...15,226,697
Ensembl chr 3:15,165,220...15,226,697
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G |
Lcn2 |
lipocalin 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Lime1 |
Lck interacting transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID: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 chr 3:168,490,535...168,496,627
Ensembl chr 3:168,490,074...168,493,127
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G |
Lmntd2 |
lamin tail domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156
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G |
Lmx1b |
LIM homeobox transcription factor 1 beta |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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G |
Lrrc8a |
leucine rich repeat containing 8 VRAC subunit A |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
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G |
Lrsam1 |
leucine rich repeat and sterile alpha motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
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G |
Lsmem2 |
leucine-rich single-pass membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115
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G |
Lsp1 |
lymphocyte-specific protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416
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G |
Mapkapk3 |
MAPK activated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:107,929,754...107,963,638
Ensembl chr 8:107,929,762...107,963,568
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G |
Mast2 |
microtubule associated serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:129,776,293...129,915,502
Ensembl chr 5:129,775,676...129,915,606
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G |
Mast3 |
microtubule associated serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:34185323 |
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NCBI chr16:18,636,764...18,663,852
Ensembl chr16:18,636,787...18,663,852
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G |
Med27 |
mediator complex subunit 27 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,629,593...12,803,340
Ensembl chr 3:12,629,603...12,803,339
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G |
Miga2 |
mitoguardin 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:13,636,235...13,658,895
Ensembl chr 3:13,636,238...13,658,896
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G |
Mir138-2 |
microRNA 138-2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,674,193...10,674,274
Ensembl chr19:10,674,193...10,674,274
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G |
Mir1b |
microRNA 1b |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,487,117...167,487,201
Ensembl chr 3:167,487,117...167,487,201
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G |
Mir210 |
microRNA 210 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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G |
Mir2964 |
microRNA 2964 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 |
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NCBI chr 3:13,118,623...13,118,722
Ensembl chr 3:13,118,623...13,118,722
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G |
Mir3582 |
microRNA 3582 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr18:1,885,063...1,885,180
Ensembl chr18:1,885,063...1,885,180
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G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
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G |
Mmp15 |
matrix metallopeptidase 15 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,663,449...9,684,943
Ensembl chr19:9,663,449...9,684,943
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G |
Mob2 |
MOB kinase activator 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,092,991...197,149,978
Ensembl chr 1:197,092,994...197,149,933
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G |
Mon1a |
MON1 homolog A, secretory trafficking associated |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156
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G |
Mrgbp |
MRG domain binding protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,697,129...167,700,592
Ensembl chr 3:167,697,185...167,700,592
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G |
Mrgpre |
MAS related GPR family member E |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:198,963,786...198,969,862
Ensembl chr 1:198,963,787...198,969,521
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G |
Mrgprg |
MAS related GPR family member G |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,947,648...198,951,556
Ensembl chr 1:198,947,229...198,951,517
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G |
Mrpl23 |
mitochondrial ribosomal protein L23 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222
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G |
Mrps30 |
mitochondrial ribosomal protein S30 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:50,456,253...50,463,128
Ensembl chr 2:50,456,255...50,463,105
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G |
Mst1 |
macrophage stimulating 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416
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G |
Mst1r |
macrophage stimulating 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
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G |
Mt1 |
metallothionein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049
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G |
Mt1-ps3 |
metallothionein 1, pseudogene 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr17:74,786,652...74,787,040
Ensembl chr17:74,786,654...74,787,135
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G |
Mt2A |
metallothionein 2A |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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G |
Mt3 |
metallothionein 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
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G |
Mt4 |
metallothionein 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,863,813...10,865,909
Ensembl chr19:10,863,813...10,865,909
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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G |
Muc6 |
mucin 6, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
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G |
Mutyh |
mutY DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146
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G |
Naa80 |
N(alpha)-acetyltransferase 80, NatH catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563
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G |
Naif1 |
nuclear apoptosis inducing factor 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 3:15,741,239...15,747,672
Ensembl chr 3:15,742,919...15,747,669
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Nap1l4 |
nucleosome assembly protein 1-like 4 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:198,709,697...198,746,093
Ensembl chr 1:198,709,701...198,746,020
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Nasp |
nuclear autoantigenic sperm protein |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,057,363...130,083,003
Ensembl chr 5:130,057,363...130,082,928
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G |
Ncs1 |
neuronal calcium sensor 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:14,523,220...14,568,829
Ensembl chr 3:14,523,220...14,568,829
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G |
Ndrg4 |
NDRG family member 4 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914
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Niban2 |
niban apoptosis regulator 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,174,674...16,224,293
Ensembl chr 3:16,174,659...16,224,293
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G |
Nkain4 |
Sodium/potassium transporting ATPase interacting 4 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,053,294...168,073,944
Ensembl chr 3:168,053,066...168,073,925
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G |
Nlrc5 |
NLR family, CARD domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121
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G |
Nnt |
nicotinamide nucleotide transhydrogenase |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:51,411,413...51,505,125
Ensembl chr 2:51,411,413...51,504,823
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G |
Nprl2 |
NPR2-like, GATOR1 complex subunit |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 PMID:30410802 |
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NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:108,215,814...108,218,996
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G |
Ntmt1 |
N-terminal Xaa-Pro-Lys N-methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:14,093,374...14,110,565
Ensembl chr 3:14,093,977...14,110,663
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G |
Ntng2 |
netrin G2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
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G |
Ntsr1 |
neurotensin receptor 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,606,215...167,656,371
Ensembl chr 3:167,606,215...167,656,377
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G |
Nudt21 |
nudix hydrolase 21 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,974,800...10,993,841
Ensembl chr19:10,974,241...10,991,682
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Nup188 |
nucleoporin 188 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307
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G |
Nup214 |
nucleoporin 214 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
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Nup93 |
nucleoporin 93 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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Nup98 |
nucleoporin 98 and 96 precursor |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
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Odf2 |
outer dense fiber of sperm tails 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 3:13,160,981...13,207,223
Ensembl chr 3:13,161,494...13,206,985
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Ogfod1 |
2-oxoglutarate and iron-dependent oxygenase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,945,031...10,974,602
Ensembl chr19:10,946,018...10,975,119
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G |
Ogfr |
opioid growth factor receptor |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,703,173...167,709,459
Ensembl chr 3:167,702,695...167,709,473
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G |
Osbpl2 |
oxysterol binding protein-like 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:167,210,945...167,256,219
Ensembl chr 3:167,210,832...167,256,219
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G |
Osbpl5 |
oxysterol binding protein-like 5 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:198,862,071...198,916,469
Ensembl chr 1:198,862,055...198,916,469
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G |
Paip1 |
poly(A) binding protein interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:51,523,190...51,550,241
Ensembl chr 2:51,522,921...51,550,241
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G |
Pgap2 |
post-GPI attachment to proteins 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114
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G |
Phlda2 |
pleckstrin homology-like domain, family A, member 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:198,696,897...198,699,292
Ensembl chr 1:198,696,897...198,697,836
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G |
Phrf1 |
PHD and ring finger domains 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
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G |
Phyhd1 |
phytanoyl-CoA dioxygenase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:13,535,670...13,553,797
Ensembl chr 3:13,540,056...13,553,797
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G |
Pidd1 |
p53-induced death domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
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G |
Pigp |
phosphatidylinositol glycan anchor biosynthesis, class P |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915 |
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NCBI chr11:33,682,943...33,689,111
Ensembl chr11:33,682,948...33,689,321
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G |
Pik3r3 |
phosphoinositide-3-kinase regulatory subunit 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:129,700,925...129,772,591
Ensembl chr 5:129,701,229...129,772,583
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G |
Pip5kl1 |
phosphatidylinositol-4-phosphate 5-kinase-like 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
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G |
Pkn3 |
protein kinase N3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:13,350,082...13,363,572
Ensembl chr 3:13,335,041...13,363,567
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G |
Pkp3 |
plakophilin 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,187,914...196,198,843
Ensembl chr 1:196,187,835...196,198,844
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G |
Plk3 |
polo-like kinase 3 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,607,142...130,612,317
Ensembl chr 5:130,607,142...130,612,317
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G |
Pllp |
plasmolipin |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,315,104...10,335,892
Ensembl chr19:10,315,104...10,335,892
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G |
Plpp7 |
phospholipid phosphatase 7 (inactive) |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,384,461...15,398,820
Ensembl chr 3:15,384,492...15,398,883
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G |
Pnpla2 |
patatin-like phospholipase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
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G |
Polr2c |
RNA polymerase II subunit C |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,158,153...10,164,935
Ensembl chr19:10,157,823...10,164,945
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G |
Polr2l |
RNA polymerase II, I and III subunit L |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:196,570,051...196,572,060
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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: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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G |
Pomt1 |
protein-O-mannosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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G |
Ppdpf |
pancreatic progenitor cell differentiation and proliferation factor |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
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G |
Prdm12 |
PR/SET domain 12 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,928,651...14,943,341
Ensembl chr 3:14,928,628...14,943,331
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G |
Prdx1 |
peroxiredoxin 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856
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G |
Prpf6 |
pre-mRNA processing factor 6 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,706,952...168,771,191
Ensembl chr 3:168,704,299...168,774,991
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G |
Prrc2b |
proline-rich coiled-coil 2B |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:15,433,357...15,519,105
Ensembl chr 3:15,465,294...15,519,104
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G |
Prrx2 |
paired related homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:14,132,574...14,168,533
Ensembl chr 3:14,094,004...14,168,535
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G |
Prss54 |
serine protease 54 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,479,995...9,496,838
Ensembl chr19:9,479,995...9,496,835
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G |
Psme3ip1 |
proteasome activator subunit 3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,401,400...10,430,059
Ensembl chr19:10,401,532...10,429,987
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G |
Ptch2 |
patched 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
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G |
Ptdss2 |
phosphatidylserine synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,241,439...196,267,632
Ensembl chr 1:196,241,494...196,267,685
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G |
Ptges |
prostaglandin E synthase |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,177,892...14,189,236
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G |
Ptges2 |
prostaglandin E synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 3:15,690,501...15,697,688
Ensembl chr 3:15,690,501...15,697,688
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G |
Ptk6 |
protein tyrosine kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:26030193 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664
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G |
Ptpa |
protein phosphatase 2 phosphatase activator |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:13,689,742...13,720,287
Ensembl chr 3:13,689,741...13,722,549
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G |
Ptrh1 |
peptidyl-tRNA hydrolase 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID: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 chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648
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G |
Qrfp |
pyroglutamylated RFamide peptide |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:15,088,045...15,088,419
Ensembl chr 3:15,088,045...15,088,425
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G |
Ralgps1 |
Ral GEF with PH domain and SH3 binding motif 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,433,323...16,670,276
Ensembl chr 3:16,433,742...16,669,972
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G |
Rapgef1 |
Rap guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,898,349...13,016,234
Ensembl chr 3:12,898,266...13,013,984
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G |
Rassf1 |
Ras association domain family member 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
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G |
Rassf7 |
Ras association domain family member 7 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770
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G |
Rbbp8nl |
RBBP8 N-terminal like |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,364,048...167,378,993
Ensembl chr 3:167,364,048...167,379,092
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G |
Rbm5 |
RNA binding motif protein 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430
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G |
Rbm6 |
RNA binding motif protein 6 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771
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G |
Rhog |
ras homolog family member G |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,618,713...156,630,710
Ensembl chr 1:156,615,349...156,631,257
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G |
Rnf123 |
ring finger protein 123 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675
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G |
Rnf220 |
ring finger protein 220 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,739,173...130,961,386
Ensembl chr 5:130,739,183...130,961,418
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|
G |
Rnh1 |
ribonuclease/angiogenin inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,269,293...196,281,763
Ensembl chr 1:196,269,293...196,281,910
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G |
Rpl12 |
ribosomal protein L12 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,264,269...16,266,645
Ensembl chr 3:16,264,251...16,266,642
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|
G |
Rplp2 |
ribosomal protein lateral stalk subunit P2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
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|
G |
Rps21-ps1 |
ribosomal protein S21, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 5:153,387,133...153,387,476
Ensembl chr 5:153,387,176...153,387,427
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|
G |
Rps8 |
ribosomal protein S8 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,630,362...130,632,932
Ensembl chr 5:130,629,716...130,633,268
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G |
Rspry1 |
ring finger and SPRY domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,352,449...10,403,015
Ensembl chr19:10,353,821...10,401,102
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|
G |
Rtel1 |
regulator of telomere elongation helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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G |
Samd10 |
sterile alpha motif domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,700,280...168,704,427
Ensembl chr 3:168,700,284...168,705,248
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|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy |
ClinVar |
PMID:1868258 PMID:1893099 PMID:9126059 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11524484 PMID:11567038 PMID:11756608 PMID:11823106 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12535936 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12773292 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15133511 PMID:15263074 PMID:15277629 PMID:15508916 PMID:15694566 PMID:15805193 PMID:15880351 PMID:16075041 PMID:16199547 PMID:16210358 PMID:16359470 PMID:16380441 PMID:16458823 PMID:16525050 PMID:16541393 PMID:16713913 PMID:16713920 PMID:16865694 PMID:17001291 PMID:17054684 PMID:17054685 PMID:17129991 PMID:17166794 PMID:17347258 PMID:17436242 PMID:17470132 PMID:17507202 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17679682 PMID:17903680 PMID: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:21488303 PMID:21555645 PMID:21692795 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21775168 PMID:21844054 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22028529 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22188362 PMID:22292851 PMID:22406018 PMID:22409937 PMID:22495306 PMID:22525008 PMID:22550089 PMID:22591328 PMID:22612257 PMID:22780858 PMID:22781031 PMID:22848613 PMID:22944210 PMID:22992668 PMID:23016767 PMID:23020937 PMID:23032131 PMID:23086956 PMID:23103419 PMID:23184456 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23485646 PMID:23527921 PMID:23559409 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:23945787 PMID:24066114 PMID:24097157 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24337656 PMID:24412860 PMID:24472396 PMID:24502503 PMID:24623842 PMID:24650168 PMID:24656210 PMID:24679980 PMID:24848745 PMID:24876116 PMID:25108116 PMID:25206388 PMID:25243660 PMID:25253744 PMID:25326635 PMID:25348405 PMID:25356970 PMID:25378155 PMID:25401298 PMID:25439579 PMID:25459968 PMID:25459969 PMID:25492405 PMID:25524840 PMID:25525159 PMID:25569746 PMID:25576396 PMID:25590135 PMID:25640679 PMID:25669891 PMID:25741868 PMID:25754450 PMID:25795284 PMID:25818041 PMID:25885068 PMID:25986186 PMID:25995458 PMID:26068938 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26236192 PMID:26252084 PMID:26311622 PMID:26314341 PMID:26339958 PMID:26394714 PMID:26467025 PMID:26544041 PMID:26555147 PMID:26633542 PMID:26680202 PMID:26699486 PMID:26716362 PMID:26763045 PMID:26795593 PMID:26845707 PMID:26863999 PMID:26934580 PMID:26990884 PMID:26993267 PMID:27029629 PMID:27066544 PMID:27113213 PMID:27155821 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27458797 PMID:27465585 PMID:27491411 PMID:27541642 PMID:27582020 PMID:27652284 PMID:27734276 PMID:27781031 PMID:27864847 PMID:27959697 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28166811 PMID:28186331 PMID:28192756 PMID:28202706 PMID:28356460 PMID:28379373 PMID:28387369 PMID:28469861 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28518218 PMID:28525652 PMID:28544625 PMID:28554332 PMID:28664031 PMID:28708303 PMID:28735751 PMID:28794249 PMID:28837158 PMID:28842445 PMID:28864458 PMID:28951233 PMID:29056246 PMID:29068549 PMID:29095814 PMID:29100083 PMID:29141279 PMID:29141311 PMID:29142202 PMID:29145747 PMID:29186148 PMID:29188601 PMID:29190809 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29455050 PMID:29460957 PMID:29573403 PMID:29655203 PMID:29720203 PMID:29739726 PMID:29745119 PMID:29760947 PMID:29778030 PMID:29852413 PMID:29930392 PMID:29933521 PMID:29948376 PMID:29981888 PMID:29986598 PMID:30011152 PMID:30034362 PMID:30146492 PMID:30182498 PMID:30182801 PMID:30185235 PMID:30258939 PMID:30321769 PMID:30368457 PMID:30498473 PMID:30525188 PMID:30526861 PMID:30558019 PMID:30564305 PMID:30577886 PMID:30619928 PMID:30659983 PMID:30660939 PMID: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:39033378 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:15048894 PMID:15133511 PMID:16865694 PMID:17021166 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479388 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20371507 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:23935176 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25741868 PMID:25995458 PMID:26068938 PMID:26993267 PMID:27491411 PMID:27779742 PMID:27781031 PMID:28379373 PMID:28492532 PMID:28709814 PMID:29068549 PMID:29100083 PMID:29655203 PMID:30381472 PMID:30619928 PMID:31054490 PMID:31302675 PMID:31780880 PMID:31904120 PMID:31904126 PMID:32400968 PMID:34782754 PMID:35431799 PMID:36684540 PMID:37578743 More...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile 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 chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISS ISO |
OMIM:300088 | OMIM:300607 | OMIM:300672 | OMIM:308350 | OMIM:609304 | OMIM:612164 | OMIM:613402 | OMIM:613477 | OMIM:613720 | OMIM:613721 | OMIM:613722 | OMIM:614558 | OMIM:614959 | OMIM:615006 | OMIM:615338 | OMIM:615473 | OMIM:615476 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy |
MouseDO ClinVar |
PMID:9536098 PMID:12374766 PMID:15525788 PMID:15800189 PMID:16199547 PMID:17576681 PMID:17881658 PMID:18414213 PMID:19254928 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:24194747 PMID:24352161 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25568300 PMID:25666757 PMID:25725044 PMID:25741868 PMID:25785782 PMID:25799905 PMID:25818041 PMID:25849321 PMID:25914188 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235739 PMID:26252990 PMID:26297079 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26647175 PMID:26677014 PMID:26900580 PMID:26993267 PMID:27165006 PMID:27210545 PMID: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:33201365 PMID:33827760 PMID:33851778 PMID:34120799 PMID:34431999 PMID:34979445 PMID:35188110 PMID:35701389 More...
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NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID: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 chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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|
G |
Sct |
secretin |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658
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|
G |
Selenop |
selenoprotein P |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
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|
G |
Sema3b |
semaphorin 3B |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919
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|
G |
Sema3f |
semaphorin 3F |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083
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G |
Set |
Set nuclear proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567
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|
G |
Setd6 |
SET domain containing 6, protein lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,343,309...9,350,477
Ensembl chr19:9,347,458...9,350,453
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|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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|
G |
Sh2d3c |
SH2 domain containing 3C |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 3:16,010,622...16,046,491
Ensembl chr 3:16,010,625...16,046,484
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G |
Sh3glb2 |
SH3 domain-containing GRB2-like endophilin B2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:13,616,936...13,631,785
Ensembl chr 3:13,616,938...13,631,757
|
|
G |
Sigirr |
single Ig and TIR domain containing |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,195,363...196,208,692
Ensembl chr 1:196,199,462...196,202,269
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G |
Slc12a3 |
solute carrier family 12 member 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
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G |
Slc17a9 |
solute carrier family 17 member 9 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,839,246...167,857,462
Ensembl chr 3:167,839,385...167,855,985
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G |
Slc22a18 |
solute carrier family 22, member 18 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975
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G |
Slc25a22 |
solute carrier family 25 member 22 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:15592994 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19780765 PMID:25033742 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28255779 PMID:28454995 PMID:28492532 PMID:29924869 PMID:31589614 More...
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NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
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G |
Slc25a25 |
solute carrier family 25 member 25 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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|
NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216
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G |
Slc27a4 |
solute carrier family 27 member 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
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G |
Slc2a4rg |
SLC2A4 regulator |
|
ISO |
ClinVar Annotator: match by term: Early infantile 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 chr 3:168,493,975...168,497,616
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|
G |
Slc2a8 |
solute carrier family 2 member 8 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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|
NCBI chr 3:16,274,918...16,284,536
Ensembl chr 3:16,274,925...16,284,464
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G |
Slc38a3 |
solute carrier family 38, member 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
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|
G |
Slc38a7 |
solute carrier family 38, member 7 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:9,209,203...9,225,472
Ensembl chr19:9,209,257...9,225,454
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G |
Slc6a9 |
solute carrier family 6 member 9 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chr 5:131,374,562...131,408,733
Ensembl chr 5:131,374,542...131,408,728
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G |
Slco4a1 |
solute carrier organic anion transporter family, member 4a1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,559,177...167,578,307
Ensembl chr 3:167,559,316...167,578,305
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|
G |
Snap25 |
synaptosome associated protein 25 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID: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 chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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G |
Sox18 |
SRY-box transcription factor 18 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
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G |
Spaca9 |
sperm acrosome associated 9 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,019,376...12,028,801
Ensembl chr 3:12,019,363...12,029,119
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G |
Spmip8 |
sperm microtubule inner protein 8 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:9,713,281...9,722,257
Ensembl chr19:9,712,641...9,722,257
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G |
Spout1 |
SPOUT domain containing methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:13,451,191...13,458,918
Ensembl chr 3:13,451,202...13,493,355
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G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 PMID:20228407 PMID:20887364 PMID:22258530 PMID:22368301 PMID:22722545 PMID:24183449 PMID:24183451 PMID:25224718 PMID:25640679 PMID:25658047 PMID:25741868 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26539891 PMID:26704558 PMID:26865513 PMID:28166811 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 chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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G |
Srms |
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915
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G |
St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23252400 PMID:25640679 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31584066 More...
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NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
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G |
St6galnac4 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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|
NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
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G |
St6galnac6 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 3:15,894,275...15,907,502
Ensembl chr 3:15,885,968...15,907,496
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G |
Stim1 |
stromal interaction molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
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G |
Stmn3 |
stathmin 3 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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|
NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056
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G |
Stxbp1 |
syntaxin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 PMID:19557857 PMID:20603329 PMID:20876469 PMID:20887364 PMID:21062273 PMID:21193638 PMID:21204804 PMID:21364700 PMID:21762454 PMID:21770924 PMID:21900502 PMID:22211739 PMID:22368301 PMID:22495311 PMID:22612257 PMID:22722545 PMID:23020937 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23858467 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25326390 PMID:25326635 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25533962 PMID:25556537 PMID: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:30109124 PMID:30174244 PMID:30185235 PMID:30266908 PMID:30397338 PMID:30488659 PMID:30504930 PMID:30540253 PMID:30842647 PMID:30945278 PMID:31175295 PMID:31221716 PMID:31255830 PMID:31332438 PMID:31474318 PMID:31780880 PMID:32005694 PMID:32112430 PMID:32238909 PMID:32371413 PMID:32521962 PMID:32581362 PMID:32643187 PMID:32960281 PMID:33176815 PMID:33196034 PMID:33206935 PMID:33272087 PMID:34145886 PMID:34172529 PMID:34247411 PMID:34445196 PMID:34489640 PMID:34490615 PMID:35007884 PMID:35655584 More...
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NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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G |
Swi5 |
SWI5 homologous recombination repair protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID: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 chr 3:15,574,687...15,583,760
Ensembl chr 3:15,564,715...15,583,805
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G |
Syt8 |
synaptotagmin 8 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,588,126...197,593,598
Ensembl chr 1:197,590,149...197,593,504
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G |
Szt2 |
SZT2 subunit of KICSTOR complex |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
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G |
Taldo1 |
transaldolase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
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G |
Tbc1d13 |
TBC1 domain family, member 13 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:13,408,944...13,425,524
Ensembl chr 3:13,408,920...13,425,517
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G |
Tcfl5 |
transcription factor like 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:167,734,471...167,754,174
Ensembl chr 3:167,734,473...167,754,282
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G |
Tesk2 |
testis associated actin remodelling kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,178,715...130,270,594
Ensembl chr 5:130,185,033...130,271,292
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G |
Th |
tyrosine hydroxylase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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G |
Tmem115 |
transmembrane protein 115 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 PMID:30410802 |
|
NCBI chr 8:108,207,463...108,212,327
Ensembl chr 8:108,207,654...108,212,298
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G |
Tmem267 |
transmembrane protein 267 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:51,580,210...51,588,937
Ensembl chr 2:51,581,252...51,587,636
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G |
Tmem53 |
transmembrane protein 53 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,721,780...130,737,692
Ensembl chr 5:130,721,659...130,737,692
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G |
Tmem69 |
transmembrane protein 69 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,004,888...130,008,466
Ensembl chr 5:130,004,901...130,010,655
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G |
Tmem80 |
transmembrane protein 80 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367 Ensembl chr 1:196,436,003...196,444,367
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G |
Tnk2 |
tyrosine kinase, non-receptor, 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:25741868 |
|
NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009
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G |
Tnni2 |
troponin I2, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
|
|
G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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G |
Toe1 |
target of EGR1, exonuclease |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,270,484...130,274,050
Ensembl chr 5:130,262,319...130,274,050
|
|
G |
Tollip |
toll interacting protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625
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G |
Tor1a |
torsin family 1, member A |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691
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|
G |
Tor1b |
torsin family 1, member B |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:14,243,181...14,249,279
Ensembl chr 3:14,243,243...14,249,272
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|
G |
Tor2a |
torsin family 2, member A |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chr 3:16,048,591...16,053,198
Ensembl chr 3:16,048,549...16,052,634
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|
G |
Tpd52l2 |
TPD52 like 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
NCBI chr 3:168,598,449...168,618,201
Ensembl chr 3:168,594,609...168,619,762
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G |
Traip |
TRAF-interacting protein |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
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G |
Trpm5 |
transient receptor potential cation channel, subfamily M, member 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:198,254,956...198,277,824
Ensembl chr 1:198,255,723...198,277,654
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G |
Trub2 |
TruB pseudouridine synthase family member 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID: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 chr 3:13,049,220...13,059,836
Ensembl chr 3:13,033,745...13,059,930
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G |
Tsc1 |
TSC complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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G |
Tspan1 |
tetraspanin 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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G |
Tspan32 |
tetraspanin 32 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:198,190,128...198,204,447
Ensembl chr 1:198,190,164...198,204,445
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G |
Tspan4 |
tetraspanin 4 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:196,571,307...196,593,842
Ensembl chr 1:196,572,228...196,617,448
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G |
Tssc4 |
tumor suppressing subtransferable candidate 4 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:198,251,986...198,254,810
Ensembl chr 1:198,235,487...198,254,980
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G |
Ttc16 |
tetratricopeptide repeat domain 16 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 3:16,052,567...16,064,598
Ensembl chr 3:16,048,565...16,064,547
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:14738421 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23195492 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25995458 PMID:26068938 PMID:27465585 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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G |
Ttf1 |
transcription termination factor 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,384,626...12,409,257
Ensembl chr 3:12,384,655...12,409,257
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G |
Tusc2 |
tumor suppressor 2, mitochondrial calcium regulator |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr 8:108,236,838...108,240,056
Ensembl chr 8:108,236,838...108,240,056
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G |
Uba5 |
ubiquitin-like modifier activating enzyme 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 PMID:33811063 More...
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NCBI chr 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894
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G |
Uba7 |
ubiquitin-like modifier activating enzyme 7 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr 8:108,665,289...108,674,097
Ensembl chr 8:108,665,292...108,674,099
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G |
Uck1 |
uridine-cytidine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:15,538,580...15,544,465
Ensembl chr 3:15,538,591...15,544,465
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G |
Uckl1 |
uridine-cytidine kinase 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,674,849...168,687,513
Ensembl chr 3:168,674,849...168,698,091
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G |
Urm1 |
ubiquitin related modifier 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 3:13,100,340...13,117,064
Ensembl chr 3:13,092,200...13,117,642 Ensembl chr 3:13,092,200...13,117,642
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G |
Urod |
uroporphyrinogen decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
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G |
Usb1 |
U6 snRNA biogenesis phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,689,313...9,702,306
Ensembl chr19:9,689,316...9,702,302
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G |
Usp20 |
ubiquitin specific peptidase 20 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:14,272,737...14,306,409
Ensembl chr 3:14,272,908...14,306,409
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G |
Ythdf1 |
YTH N6-methyladenosine RNA binding protein F1 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172
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G |
Zbtb34 |
zinc finger and BTB domain containing 34 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,703,355...16,726,082
Ensembl chr 3:16,703,262...16,726,098
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G |
Zbtb43 |
zinc finger and BTB domain containing 43 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 3:16,744,535...16,763,854
Ensembl chr 3:16,744,535...16,763,909
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G |
Zbtb46 |
zinc finger and BTB domain containing 46 |
|
ISO |
ClinVar Annotator: match by term: Early infantile 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 chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
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G |
Zdhhc12 |
zinc finger DHHC-type palmitoyltransferase 12 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:13,363,504...13,366,383
Ensembl chr 3:13,363,504...13,366,474
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G |
Zer1 |
zyg-11 related, cell cycle regulator |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:13,369,688...13,397,524
Ensembl chr 3:13,369,688...13,397,420
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G |
Zfp131 |
zinc finger protein 131 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:51,722,774...51,753,662
Ensembl chr 2:51,725,541...51,753,639
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G |
Zfp319 |
zinc finger protein 319 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,702,827...9,706,806
Ensembl chr19:9,702,144...9,713,198
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G |
Zfp35 |
zinc finger protein 35 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr18:15,268,852...15,284,334
Ensembl chr18:15,268,814...15,285,088
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G |
Zfp512b |
zinc finger protein 512B |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr 3:168,687,520...168,698,067
Ensembl chr 3:168,687,521...168,698,091
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G |
Zgpat |
zinc finger CCCH-type and G-patch domain containing |
|
ISO |
ClinVar Annotator: match by term: Early infantile 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 chr 3:168,473,836...168,490,380
Ensembl chr 3:168,473,981...168,490,380
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G |
Zmynd10 |
zinc finger, MYND-type containing 10 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 PMID:30410802 |
|
NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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G |
Zswim5 |
zinc finger, SWIM-type containing 5 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:130,346,733...130,463,791
Ensembl chr 5:130,343,034...130,463,784
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G |
Akap4 |
A-kinase anchoring protein 4 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:15,435,391...15,445,684
Ensembl chr X:15,435,410...15,445,684
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G |
Araf |
A-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073
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G |
Bmp15 |
bone morphogenetic protein 15 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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G |
Ccdc120 |
coiled-coil domain containing 120 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
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G |
Ccdc22 |
coiled-coil domain containing 22 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
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G |
Ccnb3 |
cyclin B3 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885
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G |
Cdk16 |
cyclin-dependent kinase 16 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,492,814...1,504,309
Ensembl chr X:1,492,814...1,504,148
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G |
Cfp |
complement factor properdin |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573
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G |
Clcn5 |
chloride voltage-gated channel 5 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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G |
Dgkk |
diacylglycerol kinase kappa |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:15,581,991...15,713,814
Ensembl chr X:15,583,572...15,712,987
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G |
Ebp |
EBP, cholestenol delta-isomerase |
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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 chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
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G |
Elk1 |
ETS transcription factor ELK1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713
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G |
Eras |
ES cell expressed Ras |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,573,987...14,578,455
Ensembl chr X:14,573,987...14,578,374
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G |
Foxp3 |
forkhead box P3 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Ftsj1 |
FtsJ RNA 2'-O-methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,243,684...14,256,555
Ensembl chr X:14,244,050...14,252,030
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G |
Gata1 |
GATA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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G |
Glod5 |
glyoxalase domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
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G |
Gpkow |
G patch domain and KOW motifs |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384
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G |
Gripap1 |
GRIP1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,678,896...14,708,747
Ensembl chr X:14,678,898...14,708,679
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G |
Hdac6 |
histone deacetylase 6 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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G |
Kcnd1 |
potassium voltage-gated channel subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233
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G |
Magix |
MAGI family member, X-linked |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,824,114...14,832,466
Ensembl chr X:14,824,188...14,831,045
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G |
Mir500 |
microRNA 500 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
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G |
Mir532 |
microRNA 532 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
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G |
Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062
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G |
Nudt11 |
nudix hydrolase 11 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:16,326,775...16,333,396
Ensembl chr X:16,326,598...16,333,145
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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 |
|
NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
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G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
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G |
Pim2 |
Pim-2 proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
|
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G |
Plp2 |
proteolipid protein 2 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514
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G |
Porcn |
porcupine O-acyltransferase |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481
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G |
Ppp1r3f |
protein phosphatase 1, regulatory subunit 3F |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193
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G |
Pqbp1 |
polyglutamine binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
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G |
Praf2 |
PRA1 domain family, member 2 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
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|
G |
Prickle3 |
prickle planar cell polarity protein 3 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
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G |
Rbm10 |
RNA binding motif protein 10 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
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G |
Rbm3 |
RNA binding motif protein 3 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580
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|
G |
Shroom4 |
shroom family member 4 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:15,869,065...16,076,850
Ensembl chr X:15,869,065...16,076,869
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|
G |
Slc35a2 |
solute carrier family 35 member A2 |
|
ISO |
ClinVar Annotator: match by term: CDG IIm | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
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 chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678
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G |
Slc38a5 |
solute carrier family 38, member 5 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,213,727...14,222,498
Ensembl chr X:14,213,729...14,222,498
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G |
Spaca5 |
sperm acrosome associated 5 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:918,817...922,000
Ensembl chr X:918,817...922,049
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G |
Ssx1 |
SSX family member 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720
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G |
Suv39h1 |
SUV39H1 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982
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G |
Suv39h1-ps1 |
SUV39H1 histone lysine methyltransferase, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:141,792,589...141,795,257
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G |
Syn1 |
synapsin I |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,172,208...1,227,400
Ensembl chr X:1,172,208...1,227,396
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G |
Syp |
synaptophysin |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
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G |
Tbc1d25 |
TBC1 domain family, member 25 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275
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G |
Tfe3 |
transcription factor binding to IGHM enhancer 3 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
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G |
Timm17b |
translocase of inner mitochondrial membrane 17b |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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G |
Uba1 |
ubiquitin-like modifier activating enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636
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|
G |
Usp11 |
ubiquitin specific peptidase 11 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,473,349...1,489,520
Ensembl chr X:1,473,350...1,489,520
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G |
Usp27x |
ubiquitin specific peptidase 27, X-linked |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912
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G |
Uxt |
ubiquitously-expressed, prefoldin-like chaperone |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,126,110...1,138,670
Ensembl chr X:1,126,162...1,138,663
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G |
Was |
WASP actin nucleation promoting factor |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
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|
G |
Wdr13 |
WD repeat domain 13 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,362,484...14,373,727
Ensembl chr X:14,362,860...14,373,727
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G |
Wdr45 |
WD repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
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G |
Zfp157 |
zinc finger protein 157 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698
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G |
Zfp182 |
zinc finger protein 182 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:927,439...1,001,474
Ensembl chr X:899,439...1,000,954
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G |
Znf81 |
zinc finger protein 81 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:1,030,103...1,126,078
Ensembl chr X:1,036,153...1,126,102
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|
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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 |
|
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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G |
Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:23953072 PMID:25741868 PMID:28492532 |
|
NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
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|
G |
Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr X:107,906,320...107,968,232
Ensembl chr X:107,885,093...107,942,695
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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 chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095
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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 |
|
NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513
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G |
Arx |
aristaless related homeobox |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome CTD Direct Evidence: marker/mechanism associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human) |
OMIM ClinVar CTD RGD |
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12177367 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12379852 PMID:12640086 PMID:12874418 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15726411 PMID:15850492 PMID:16078051 PMID:16199547 PMID:16235064 PMID:16523516 PMID:16995578 PMID:17331656 PMID:17480217 PMID:17490853 PMID:17576681 PMID:17641262 PMID:17664401 PMID:17668384 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19507262 PMID: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 PMID:19587282 PMID:17664401 More...
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RGD:11565838, RGD:11565846 |
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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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 chr19:44,996,506...45,013,606
Ensembl chr19:44,996,356...45,013,605
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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 chr10:13,196,204...13,202,580
Ensembl chr10:13,196,204...13,201,500
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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 chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101
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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 chr10:12,691,610...12,700,049
Ensembl chr10:12,691,610...12,700,049
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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 |
|
NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
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G |
C19h16orf46 |
similar to human chromosome 16 open reading frame 46 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
|
NCBI chr19:45,017,499...45,033,453
Ensembl chr19:45,022,280...45,032,683
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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 chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
|
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 chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
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G |
Caskin1 |
CASK interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
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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:29358611 PMID:30866059 More...
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NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
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 chr19:44,591,734...44,783,258
Ensembl chr19:44,597,459...44,783,022
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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 chr19:44,971,265...44,994,019
Ensembl chr19:44,968,308...44,994,012
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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 chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
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G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
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G |
Cldn6 |
claudin 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,710,302...12,713,987
Ensembl chr10:12,709,960...12,715,973
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G |
Cldn9 |
claudin 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,714,137...12,715,568
|
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G |
Cmc2 |
C-x(9)-C motif containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
|
NCBI chr19:44,943,283...44,971,930
Ensembl chr19:44,943,285...44,971,983
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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 |
|
NCBI chr19:45,304,597...45,510,653
Ensembl chr19:45,304,031...45,508,709
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G |
Csnk1e |
casein kinase 1, epsilon |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
|
|
NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794
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G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
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G |
Dnm1 |
dynamin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:30097719 PMID:32909139 PMID:36413998 |
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NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
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G |
Dynlrb2 |
dynein light chain roadblock-type 2 |
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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 chr19:44,520,134...44,531,384
Ensembl chr19:44,520,134...44,531,387
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G |
E4f1 |
E4F transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974
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G |
Eci1 |
enoyl-CoA delta isomerase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061
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G |
Elob |
elongin B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,848,830...12,853,897
Ensembl chr10:12,848,827...12,853,635
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G |
Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968
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G |
Fahd1 |
fumarylacetoacetate hydrolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012
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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 chr10:12,774,644...12,794,373
Ensembl chr10:12,774,653...12,794,267
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G |
Flywch2 |
FLYWCH family member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,798,757...12,807,082
Ensembl chr10:12,798,762...12,806,439
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G |
Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
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G |
Gan |
gigaxonin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:45,207,783...45,265,066
Ensembl chr19:45,207,184...45,254,107
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G |
Gcsh |
glycine cleavage system protein H |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792
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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 chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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G |
Gnao1 |
G protein subunit alpha o1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
|
ISO |
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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G |
Hagh |
hydroxyacyl glutathione hydrolase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504
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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 |
|
NCBI chr10:12,705,139...12,706,852
Ensembl chr10:12,705,077...12,706,850
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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 chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774
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G |
Hnrnpu |
heterogeneous nuclear ribonucleoprotein U |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
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|
NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588
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G |
Hs3st6 |
heparan sulfate-glucosamine 3-sulfotransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133
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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 |
|
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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G |
Itpa |
inosine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:26224535 PMID:28492532 |
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NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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G |
Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 More...
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|
NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
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 |
|
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kctd5 |
potassium channel tetramerization domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,079,216...13,105,197
Ensembl chr10:13,079,214...13,105,209
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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 |
|
NCBI chr10:12,763,345...12,767,622
Ensembl chr10:12,763,397...12,767,854
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G |
Maf |
MAF bZIP transcription factor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
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 chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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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 chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046
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G |
Mlst8 |
MTOR associated protein, LST8 homolog |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
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G |
Mmp25 |
matrix metallopeptidase 25 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,661,297...12,676,119
Ensembl chr10:12,661,208...12,675,871
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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 |
|
NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406
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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 chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609
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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 chr 3:136,132,248...136,179,280
Ensembl chr 3:136,133,428...136,179,345
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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 chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442
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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 chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049
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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 chr10:13,723,253...13,726,008
Ensembl chr10:13,721,473...13,726,061
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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 chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586
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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 chr 1:203,726,420...203,842,301
Ensembl chr 1:203,735,753...203,842,297
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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 |
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NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957
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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 chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001
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G |
Nubp2 |
NUBP iron-sulfur cluster assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,903,224...13,906,928
Ensembl chr10:13,903,224...13,906,969
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G |
Pacs2 |
phosphofurin acidic cluster sorting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 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:36474027 More...
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NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583
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G |
Paqr4 |
progestin and adipoQ receptor family member 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,758,970...12,762,649
Ensembl chr10:12,758,972...12,762,584
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G |
Pcdh19 |
protocadherin 19 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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G |
Pcyt1b |
phosphate cytidylyltransferase 1B, choline |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
|
NCBI chr X:58,378,090...58,471,623
Ensembl chr X:58,378,116...58,468,935
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G |
Pdk3 |
pyruvate dehydrogenase kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
|
NCBI chr X:58,486,699...58,553,533
Ensembl chr X:58,486,554...58,553,557
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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 chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623
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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 chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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G |
Pkd1l2 |
polycystin 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
|
NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532
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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 chr10:12,748,221...12,758,995
Ensembl chr10:12,748,237...12,758,995
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G |
Plcb1 |
phospholipase C beta 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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G |
Plcg2 |
phospholipase C, gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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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 |
|
NCBI chr X:58,034,617...58,348,612
Ensembl chr X:58,034,619...58,348,536
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G |
Prss21 |
serine protease 21 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,899,820...12,905,612
Ensembl chr10:12,900,535...12,905,618
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G |
Prss22 |
serine protease 22 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,029,153...13,033,863
Ensembl chr10:13,029,153...13,033,863
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G |
Prss27 |
serine protease 27 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,069,959...13,077,322
Ensembl chr10:13,069,959...13,077,322
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G |
Prss33 |
serine protease 33 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,858,941...12,861,281
Ensembl chr10:12,858,941...12,861,281
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G |
Prss41 |
serine protease 41 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,865,872...12,873,552
Ensembl chr10:12,865,872...12,873,552
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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 chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030
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G |
Reps2 |
RALBP1 associated Eps domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:32,049,455...32,322,317
Ensembl chr X:32,049,399...32,317,414
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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 chr10:13,742,682...13,747,192
Ensembl chr10:13,742,682...13,745,000
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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 chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858
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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 chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457
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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 chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163
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G |
Rs1 |
retinoschisin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:11940708 PMID:12083760 PMID:16458823 PMID:17347258 PMID:18804930 PMID:18930999 PMID:20522430 PMID:21248271 PMID:22151702 PMID:23195492 PMID:23808377 PMID:25741868 PMID:26096185 PMID:26467025 PMID:26544041 PMID:28079314 PMID:28387369 PMID:28492532 PMID:29100083 PMID:30619928 PMID:31864146 PMID:32056211 PMID:32090326 PMID:35571373 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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Slc25a12 |
solute carrier family 25 member 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100
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G |
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 chr10:13,907,175...13,912,841
Ensembl chr10:13,907,253...13,912,841
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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 chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751
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G |
St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
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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 chr10:13,710,553...13,715,309
Ensembl chr10:13,704,998...13,715,669
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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 chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220
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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 chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
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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 spasms ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms |
ClinVar |
PMID: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: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 |