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G |
ABHD16B |
abhydrolase domain containing 16B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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|
NCBI chr17:62,729,995...62,732,060
Ensembl chr17:62,730,062...62,731,474
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|
G |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708
|
|
G |
ADGRG1 |
adhesion G protein-coupled receptor G1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,523,618...19,570,891
Ensembl chr 6:19,527,648...19,570,893
|
|
G |
ADGRG3 |
adhesion G protein-coupled receptor G3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,573,080...19,599,082
Ensembl chr 6:19,574,530...19,599,080
|
|
G |
ADGRG5 |
adhesion G protein-coupled receptor G5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,456,550...19,488,667
Ensembl chr 6:19,463,024...19,488,623
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|
G |
ADRM1 |
ADRM1 26S proteasome ubiquitin receptor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr17:61,692,923...61,698,138
Ensembl chr17:61,692,945...61,698,144
|
|
G |
AIF1L |
allograft inflammatory factor 1 like |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:271,075,376...271,099,984
Ensembl chr 1:271,072,734...271,102,803
|
|
G |
AK1 |
adenylate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,033...268,365,598
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|
G |
AK8 |
adenylate kinase 8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:272,497,661...272,625,668
Ensembl chr 1:272,497,662...272,625,660
|
|
G |
AKR1A1 |
aldo-keto reductase family 1 member A1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:165,811,245...165,825,168
Ensembl chr 6:165,811,247...165,824,896
|
|
G |
AMFR |
autocrine motility factor receptor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:29,366,812...29,417,800
Ensembl chr 6:29,366,936...29,413,697
|
|
G |
ANGPTL2 |
angiopoietin like 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 1:267,639,636...267,672,918
Ensembl chr 1:267,639,638...267,672,923
|
|
G |
ANO4 |
anoctamin 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:83,052,070...83,489,523
Ensembl chr 5:83,052,958...83,489,433
|
|
G |
ANO9 |
anoctamin 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:232,761...250,966
Ensembl chr 2:232,194...250,935
|
|
G |
ANXA2R |
annexin A2 receptor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr16:27,744,342...27,744,896
|
|
G |
AP2A2 |
adaptor related protein complex 2 subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:580,169...628,098
Ensembl chr 2:580,182...628,087
|
|
G |
APEH |
acylaminoacyl-peptide hydrolase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr13:32,205,863...32,214,517
Ensembl chr13:32,205,609...32,214,518
|
|
G |
ARFGAP1 |
ADP ribosylation factor GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr17:62,380,060...62,391,836
Ensembl chr17:62,380,091...62,391,856
|
|
G |
ARFRP1 |
ADP ribosylation factor related protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
NCBI chr17:62,636,584...62,642,485
Ensembl chr17:62,636,588...62,642,490
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|
G |
ARHGEF15 |
Rho guanine nucleotide exchange factor 15 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr12:53,495,409...53,506,373
Ensembl chr12:53,495,453...53,506,352
|
|
G |
ARL2BP |
ADP ribosylation factor like GTPase 2 binding protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,207,013...19,215,014
Ensembl chr 6:19,207,071...19,223,194
|
|
G |
ARMH1 |
armadillo like helical domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:166,572,968...166,645,129
Ensembl chr 6:166,592,845...166,645,014
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|
G |
ART1 |
ADP-ribosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:6,432,513...6,443,639
Ensembl chr 9:6,431,021...6,443,603
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|
G |
ART5 |
ADP-ribosyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:6,443,768...6,449,203
Ensembl chr 9:6,442,459...6,449,199
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|
G |
ARTN |
artemin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chr 6:167,356,363...167,361,370
Ensembl chr 6:167,357,662...167,360,729
|
|
G |
ASB6 |
ankyrin repeat and SOCS box containing 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,828,978...269,834,283
Ensembl chr 1:269,828,985...269,834,271
|
|
G |
ASCL2 |
achaete-scute family bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:1,558,459...1,560,112
Ensembl chr 2:1,558,459...1,560,112
|
|
G |
ASS1 |
argininosuccinate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,364
|
|
G |
ATP6V0B |
ATPase H+ transporting V0 subunit b |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chr 6:167,316,945...167,320,355
Ensembl chr 6:167,316,947...167,320,212
|
|
G |
AVEN |
apoptosis and caspase activation inhibitor |
|
ISO |
ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy |
ClinVar |
|
|
NCBI chr 7:80,447,337...80,640,120
Ensembl chr 7:80,447,524...80,640,119
|
|
G |
B4GALNT4 |
beta-1,4-N-acetyl-galactosaminyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:192,903...206,862
Ensembl chr 2:192,997...204,875
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|
G |
B4GALT2 |
beta-1,4-galactosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chr 6:167,305,903...167,316,009
Ensembl chr 6:167,305,908...167,315,871
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|
G |
BARHL1 |
BarH like homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:272,373,125...272,380,223
Ensembl chr 1:272,373,402...272,381,224
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|
G |
BBLN |
bublin coiled coil protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chr 1:268,616,040...268,619,638
|
|
G |
BBS2 |
Bardet-Biedl syndrome 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:18,542,383...18,575,338
Ensembl chr 6:18,542,386...18,575,514
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G |
BEST4 |
bestrophin 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:166,540,767...166,547,149
Ensembl chr 6:166,528,987...166,546,996
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|
G |
BHLHE23 |
basic helix-loop-helix family member e23 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr17:62,217,583...62,228,599
Ensembl chr17:62,227,916...62,228,638
|
|
G |
BIRC7 |
baculoviral IAP repeat containing 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr17:62,351,663...62,356,220
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|
G |
BRSK2 |
BR serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:896,720...953,908
Ensembl chr 2:896,585...953,108
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|
G |
BSCL2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886
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|
G |
BSN |
bassoon presynaptic cytomatrix protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr13:32,106,967...32,203,461
Ensembl chr13:32,159,630...32,195,578
|
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G |
BTBD19 |
BTB domain containing 19 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:166,520,266...166,526,725
Ensembl chr 6:166,520,244...166,526,858
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|
G |
C13H3orf18 |
chromosome 13 C3orf18 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr13:33,036,889...33,045,704
Ensembl chr13:33,036,900...33,045,596
|
|
G |
C16H5orf34 |
chromosome 16 C5orf34 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr16:28,060,297...28,094,206
Ensembl chr16:28,058,264...28,094,452
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G |
C1H9orf50 |
chromosome 1 C9orf50 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,808,945...269,824,645
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|
G |
C1H9orf78 |
chromosome 1 C9orf78 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,986,386...269,995,394
Ensembl chr 1:269,986,391...269,995,395
|
|
G |
CABLES2 |
Cdk5 and Abl enzyme substrate 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr17:61,764,933...61,778,394
Ensembl chr17:61,764,937...61,778,394
|
|
G |
CACNA1E |
calcium voltage-gated channel subunit alpha1 E |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:17660294 PMID:23934111 PMID:25741868 PMID:26680202 PMID:28135719 PMID:28492532 PMID:30343943 PMID:31785789 PMID:32695065 PMID:33776624 PMID:35937981 More...
|
|
NCBI chr 9:122,827,386...123,318,372
Ensembl chr 9:123,006,195...123,315,319
|
|
G |
CACNA2D2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 PMID:31785789 PMID:33798445 PMID:36539902 More...
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|
NCBI chr13:32,845,110...32,988,851
Ensembl chr13:32,845,115...32,988,774
|
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G |
CAMKV |
CaM kinase like vesicle associated |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr13:32,381,122...32,401,480
Ensembl chr13:32,381,128...32,392,987
|
|
G |
CARS1 |
cysteinyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:2,119,576...2,163,378
Ensembl chr 2:2,119,592...2,163,343
|
|
G |
CCDC102A |
coiled-coil domain containing 102A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,436,379...19,456,995
Ensembl chr 6:19,437,169...19,456,905
|
|
G |
CCDC152 |
coiled-coil domain containing 152 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr16:27,474,697...27,538,361
Ensembl chr16:27,471,003...27,538,665
|
|
G |
CCDC17 |
coiled-coil domain containing 17 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:165,768,569...165,772,763
|
|
G |
CCDC24 |
coiled-coil domain containing 24 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chr 6:167,301,560...167,305,471
Ensembl chr 6:167,301,565...167,305,255
|
|
G |
CCL17 |
C-C motif chemokine ligand 17 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
|
|
G |
CCL22 |
C-C motif chemokine ligand 22 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737
|
|
G |
CCL28 |
C-C motif chemokine ligand 28 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr16:27,990,024...28,010,859
Ensembl chr16:27,985,167...28,010,858
|
|
G |
CD151 |
CD151 molecule |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:525,000...529,568
Ensembl chr 2:525,051...529,565
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|
G |
CD81 |
CD81 molecule |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:1,625,728...1,641,662
Ensembl chr 2:1,625,736...1,641,663
|
|
G |
CDHR4 |
cadherin related family member 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr13:32,322,030...32,329,530
Ensembl chr13:32,322,034...32,329,337
|
|
G |
CDHR5 |
cadherin related family member 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:376,449...382,713
Ensembl chr 2:375,726...382,719
|
|
G |
CDK9 |
cyclin dependent kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chr 1:268,277,083...268,280,493
Ensembl chr 1:268,276,841...268,281,052
|
|
G |
CDKL5 |
cyclin dependent kinase like 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:32366967 |
|
NCBI chr X:14,858,826...15,096,969
Ensembl chr X:14,952,225...15,078,855
|
|
G |
CDKN1C |
cyclin dependent kinase inhibitor 1C |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:2,019,391...2,022,092
Ensembl chr 2:2,019,830...2,021,853
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G |
CEL |
carboxyl ester lipase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:272,763,203...272,770,259
Ensembl chr 1:272,763,003...272,770,255
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G |
CEND1 |
cell cycle exit and neuronal differentiation 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:487,817...490,704
Ensembl chr 2:487,821...490,699
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G |
CERCAM |
cerebral endothelial cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chr 1:268,834,967...268,847,236
Ensembl chr 1:268,834,966...268,847,223
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G |
CFAP157 |
cilia and flagella associated protein 157 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chr 1:268,209,190...268,213,909
Ensembl chr 1:268,209,187...268,215,859
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G |
CFAP20 |
cilia and flagella associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,954,698...19,969,383
Ensembl chr 6:19,954,925...19,969,347
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G |
CFAP263 |
cilia and flagella associated protein 263 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:20,052,669...20,088,819
Ensembl chr 6:20,052,651...20,088,816
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G |
CFAP77 |
cilia and flagella associated protein 77 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:272,216,581...272,362,321
Ensembl chr 1:272,217,072...272,361,733
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G |
CHD2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
|
|
NCBI chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938
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G |
CHID1 |
chitinase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:551,973...570,849
Ensembl chr 2:552,324...571,753
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G |
CHRNA10 |
cholinergic receptor nicotinic alpha 10 subunit |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:6,427,832...6,431,881
Ensembl chr 9:6,427,191...6,432,875
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G |
CHRNA4 |
cholinergic receptor nicotinic alpha 4 subunit |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9425895 PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27054081 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 PMID:31418850 More...
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|
NCBI chr17:62,424,672...62,436,646
Ensembl chr17:62,423,878...62,435,728
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G |
CIAPIN1 |
cytokine induced apoptosis inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,356,065...19,373,085
Ensembl chr 6:19,356,069...19,373,060
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|
G |
CISH |
cytokine inducible SH2 containing protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr13:33,086,280...33,090,540
Ensembl chr13:33,085,286...33,090,858
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G |
CIZ1 |
CDKN1A interacting zinc finger protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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|
NCBI chr 1:268,618,972...268,642,064
Ensembl chr 1:268,617,087...268,641,893
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G |
CNGB1 |
cyclic nucleotide gated channel subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr 6:19,752,734...19,865,830
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G |
CNOT1 |
CCR4-NOT transcription complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr 6:20,271,593...20,372,300
Ensembl chr 6:20,271,596...20,372,245
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G |
COL20A1 |
collagen type XX alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr17:62,395,383...62,419,054
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G |
COL9A3 |
collagen type IX alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr17:62,074,108...62,094,228
Ensembl chr17:62,074,855...62,093,703
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G |
COQ4 |
coenzyme Q4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chr 1:268,756,690...268,768,355
Ensembl chr 1:268,756,685...268,768,343
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G |
COQ9 |
coenzyme Q9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr 6:19,373,052...19,390,738
Ensembl chr 6:19,372,711...19,390,820
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G |
CPNE2 |
copine 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr 6:19,046,795...19,096,111
Ensembl chr 6:19,046,795...19,096,107
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G |
CRACR2B |
calcium release activated channel regulator 2B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:518,102...524,085
Ensembl chr 2:518,544...524,081
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G |
CRAT |
carnitine O-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,387,430...269,401,334
Ensembl chr 1:269,386,650...269,401,331
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G |
CSNK2A2 |
casein kinase 2 alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,975,030...20,016,768
Ensembl chr 6:19,976,930...20,016,923
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G |
CSRNP3 |
cysteine and serine rich nuclear protein 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25995458 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr15:72,040,854...72,242,269
Ensembl chr15:72,141,621...72,233,832
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G |
CTSD |
cathepsin D |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:1,188,548...1,197,642
Ensembl chr 2:1,188,549...1,197,643
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G |
CX3CL1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,312,351...19,324,439
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G |
DAG1 |
dystroglycan 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450
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G |
DDX31 |
DEAD-box helicase 31 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:272,383,585...272,454,395
Ensembl chr 1:272,383,595...272,453,979
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G |
DEAF1 |
DEAF1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:404,514...427,584
Ensembl chr 2:404,533...427,542
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|
G |
DIDO1 |
death inducer-obliterator 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr17:62,126,026...62,174,095
Ensembl chr17:62,125,122...62,174,071
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G |
DMAP1 |
DNA methyltransferase 1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:167,083,053...167,091,654
Ensembl chr 6:167,082,849...167,091,630
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G |
DNAJC5 |
DnaJ heat shock protein family (Hsp40) member C5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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|
NCBI chr17:62,754,630...62,780,470
Ensembl chr17:62,754,802...62,780,468
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G |
DNM1 |
dynamin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chr 1:268,653,045...268,702,233
Ensembl chr 1:268,653,070...268,702,222
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G |
DOK4 |
docking protein 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,400,945...19,427,038
Ensembl chr 6:19,401,075...19,413,654
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G |
DOLK |
dolichol kinase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,257,386...269,259,484
Ensembl chr 1:269,257,540...269,259,156
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G |
DOLPP1 |
dolichyldiphosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,374,707...269,383,939
Ensembl chr 1:269,374,933...269,384,344
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G |
DPH2 |
diphthamide biosynthesis 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
|
NCBI chr 6:167,322,197...167,327,760
Ensembl chr 6:167,322,332...167,326,241
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|
G |
DPM2 |
dolichyl-phosphate mannosyltransferase subunit 2, regulatory |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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|
NCBI chr 1:268,420,273...268,423,557
Ensembl chr 1:268,418,445...268,423,552
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G |
DRC7 |
dynein regulatory complex subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,603,413...19,629,175
Ensembl chr 6:19,603,399...19,629,172
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G |
DRD4 |
dopamine receptor D4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:398,766...401,539
Ensembl chr 2:398,766...402,433
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G |
DUSP8 |
dual specificity phosphatase 8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:1,006,589...1,022,444
Ensembl chr 2:1,008,761...1,022,460
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G |
DYNC2I2 |
dynein 2 intermediate chain 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:22722545 PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 PMID:31332438 PMID:33206935 PMID:33578420 More...
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|
NCBI chr 1:269,002,252...269,030,978
Ensembl chr 1:269,002,261...269,030,719
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G |
DYNLT4 |
dynein light chain Tctex-type 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:166,527,350...166,528,855
Ensembl chr 6:166,527,350...166,528,850
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G |
EEF1A2 |
eukaryotic translation elongation factor 1 alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
NCBI chr17:62,517,811...62,526,379
Ensembl chr17:62,517,503...62,526,190
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G |
EIF2B3 |
eukaryotic translation initiation factor 2B subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:166,353,918...166,487,581
Ensembl chr 6:166,353,934...166,494,698
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G |
ELFN1 |
extracellular leucine rich repeat and fibronectin type III domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity |
ClinVar |
PMID:24312227 PMID:34509675 |
|
NCBI chr 3:1,116,543...1,191,476
Ensembl chr 3:1,188,155...1,190,641
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G |
ENDOG |
endonuclease G |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,153,955...269,157,789
Ensembl chr 1:269,154,090...269,157,788
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G |
ENG |
endoglin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
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G |
EPS8L2 |
EPS8 signaling adaptor L2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:435,257...452,630
Ensembl chr 2:433,649...452,630
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G |
ERI3 |
ERI1 exoribonuclease family member 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:166,957,241...167,082,631
Ensembl chr 6:166,957,316...167,082,631
|
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G |
EXOSC2 |
exosome component 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:270,748,534...270,757,717
Ensembl chr 1:270,748,537...270,758,111
|
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G |
FAM78A |
family with sequence similarity 78 member A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:271,242,312...271,257,839
Ensembl chr 1:271,242,333...271,257,836
|
|
G |
FGF10 |
fibroblast growth factor 10 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509
|
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G |
FIBCD1 |
fibrinogen C domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:270,919,793...270,956,753
Ensembl chr 1:270,918,251...270,956,347
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G |
FNBP1 |
formin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:270,042,367...270,180,212
Ensembl chr 1:270,042,369...270,180,188
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G |
FNDC11 |
fibronectin type III domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
NCBI chr17:62,558,294...62,559,961
Ensembl chr17:62,558,684...62,559,688
|
|
G |
FPGS |
folylpolyglutamate synthase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,281,298...268,309,397
Ensembl chr 1:268,287,765...268,309,398
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G |
FUBP3 |
far upstream element binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:270,649,796...270,702,920
Ensembl chr 1:270,652,450...270,702,918
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G |
GABRA2 |
gamma-aminobutyric acid type A receptor subunit alpha2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:29422393 |
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NCBI chr 8:36,344,633...36,474,840
Ensembl chr 8:36,347,040...36,474,627
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G |
GALNT3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25995458 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435
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G |
GARNL3 |
GTPase activating Rap/RanGAP domain like 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 1:267,772,408...267,922,731
Ensembl chr 1:267,772,347...267,923,390
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G |
GATA5 |
GATA binding protein 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267
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G |
GATD1 |
glutamine amidotransferase class 1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:472,766...484,609
Ensembl chr 2:474,296...480,736
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G |
GFI1B |
growth factor independent 1B transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:272,701,386...272,715,551
Ensembl chr 1:272,702,184...272,715,539
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G |
GHR |
growth hormone receptor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,734...27,421,449
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G |
GID8 |
GID complex subunit 8 homolog |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:62,174,222...62,181,107
Ensembl chr17:62,174,231...62,181,107
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G |
GINS3 |
GINS complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:20,162,264...20,170,385
Ensembl chr 6:20,162,636...20,170,258
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G |
GLE1 |
GLE1 RNA export mediator |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,894,281...268,922,752
Ensembl chr 1:268,894,276...268,922,742
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G |
GMEB2 |
glucocorticoid modulatory element binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr17:62,568,546...62,595,880
Ensembl chr17:62,568,549...62,584,820
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G |
GMPPB |
GDP-mannose pyrophosphorylase B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155 Ensembl chr13:32,248,268...32,253,155
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G |
GNAI2 |
G protein subunit alpha i2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794
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G |
GNAO1 |
G protein subunit alpha o1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:8521505 PMID:9108480 PMID:9536098 PMID:10419452 PMID:10615050 PMID:11285252 PMID:16199547 PMID:17576681 PMID:18434540 PMID:20177705 PMID:20668451 PMID:23993195 PMID:24608809 PMID:24982418 PMID:25356970 PMID:25363768 PMID:25533962 PMID:25590979 PMID:25640679 PMID:25741868 PMID:25966631 PMID:26060304 PMID:26467025 PMID:26485252 PMID:26518167 PMID:26595808 PMID:26633542 PMID:26795593 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:27916449 PMID:28135719 PMID:28191890 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28628939 PMID:28668776 PMID:28688840 PMID:28714951 PMID:28747448 PMID:28817111 PMID:29389947 PMID:29390993 PMID:29761117 PMID:29935962 PMID:30642806 PMID:30682224 PMID:30866059 PMID:31130284 PMID:31394400 PMID:31406558 PMID:31737037 PMID:31780880 PMID:32581362 PMID:32898863 PMID:33298085 PMID:34122306 PMID:35509770 PMID:35722775 PMID:35782616 PMID:37548038 PMID:37705601 More...
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NCBI chr 6:29,416,574...29,592,874
Ensembl chr 6:29,417,603...29,592,706
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G |
GNAT1 |
G protein subunit alpha transducin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,671,377...32,678,394
Ensembl chr13:32,671,432...32,678,391
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G |
GOLGA2 |
golgin A2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,702,823...268,721,174
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G |
GOT2 |
glutamic-oxaloacetic transaminase 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:25741868 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 PMID:31422819 More...
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NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,200...20,432,067
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G |
GPBP1L1 |
GC-rich promoter binding protein 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:165,708,964...165,762,392
Ensembl chr 6:165,730,595...165,762,389
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G |
GPR107 |
G protein-coupled receptor 107 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:270,190,074...270,255,498
Ensembl chr 1:270,190,508...270,255,495
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G |
GTF3C4 |
general transcription factor IIIC subunit 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:272,454,488...272,479,968
Ensembl chr 1:272,454,503...272,479,952
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G |
GTF3C5 |
general transcription factor IIIC subunit 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:272,743,527...272,760,055
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G |
HCN1 |
hyperpolarization activated cyclic nucleotide gated potassium channel 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:17931874 PMID:20437590 PMID:22131395 PMID:24747641 PMID:25640679 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 PMID:27541642 PMID:28488083 PMID:28492532 PMID:29056246 PMID:29186148 PMID:29933521 PMID:30351409 PMID:30776697 PMID:30986657 PMID:31069529 PMID:34055682 PMID:34621433 PMID:34712263 PMID:35845605 More...
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NCBI chr16:29,439,294...29,808,855
Ensembl chr16:29,439,264...29,808,993
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G |
HECTD3 |
HECT domain E3 ubiquitin protein ligase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:166,333,284...166,341,769
Ensembl chr 6:166,333,303...166,341,760
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G |
HELZ2 |
helicase with zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr 6:59,916,378...59,932,537
Ensembl chr 6:59,919,847...59,932,546
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G |
HEMK1 |
HemK methyltransferase family member 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:33,047,040...33,058,079
Ensembl chr13:33,047,116...33,058,074
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G |
HERPUD1 |
homocysteine inducible ER protein with ubiquitin like domain 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:18,901,171...18,913,427
Ensembl chr 6:18,901,297...18,913,424
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G |
HMCN2 |
hemicentin 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:270,364,005...270,522,977
Ensembl chr 1:270,363,978...270,523,262
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G |
HMGCS1 |
3-hydroxy-3-methylglutaryl-CoA synthase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:27,936,225...27,957,261
Ensembl chr16:27,936,218...27,957,193
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G |
HPDL |
4-hydroxyphenylpyruvate dioxygenase like |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:166,012,590...166,015,051
Ensembl chr 6:166,012,601...166,014,323
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G |
HRAS |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
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G |
HYAL1 |
hyaluronidase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,798,135...32,800,705
Ensembl chr13:32,797,681...32,800,793
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G |
HYAL1 |
hyaluronidase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,793,784...32,794,650
Ensembl chr13:32,793,572...32,794,700
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G |
HYAL2 |
hyaluronidase 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,805,220...32,813,684
Ensembl chr13:32,805,227...32,815,333
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G |
HYAL3 |
hyaluronidase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,790,843...32,796,995
Ensembl chr13:32,790,850...32,796,563
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G |
IER5L |
immediate early response 5 like |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:269,453,920...269,455,524
Ensembl chr 1:269,454,099...269,455,310
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G |
IFITM10 |
interferon induced transmembrane protein 10 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:1,166,975...1,183,309
Ensembl chr 2:1,166,971...1,183,315
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G |
IFITM3 |
interferon induced transmembrane protein 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:128,658...129,736
Ensembl chr 2:127,152...129,835
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G |
IFITM5 |
interferon induced transmembrane protein 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:107,035...109,116
Ensembl chr 2:107,042...108,460
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G |
IFRD2 |
interferon related developmental regulator 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,756,671...32,790,763
Ensembl chr13:32,756,680...32,790,672
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G |
IGF2 |
insulin like growth factor 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:1,469,183...1,496,417
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G |
INKA1 |
inka box actin regulator 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,329,872...32,332,167
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G |
INS |
insulin |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
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G |
IP6K1 |
inositol hexakisphosphate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,253,515...32,320,005
Ensembl chr13:32,253,515...32,319,988
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G |
IPO13 |
importin 13 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
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NCBI chr 6:167,327,587...167,347,805
Ensembl chr 6:167,327,587...167,347,812
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G |
IPP |
intracisternal A particle-promoted polypeptide |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:165,671,053...165,702,078
Ensembl chr 6:165,671,174...165,709,775
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G |
IRF7 |
interferon regulatory factor 7 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:372,235...375,572
Ensembl chr 2:372,238...375,378
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G |
ITPA |
inosine triphosphatase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:26224535 |
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NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784
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G |
KATNB1 |
katanin regulatory subunit B1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:19,630,355...19,659,039
Ensembl chr 6:19,630,447...19,659,043
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G |
KCNA3 |
potassium voltage-gated channel subfamily A member 3 |
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ISO |
ClinVar Annotator: match by term: KCNA3-associated developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:37964487 |
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NCBI chr 4:109,495,220...109,498,548
Ensembl chr 4:109,495,350...109,497,116
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G |
KCNB1 |
potassium voltage-gated channel subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31600826 PMID:32954514 |
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NCBI chr17:51,032,163...51,152,566
Ensembl chr17:51,039,987...51,142,644
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G |
KCNC2 |
potassium voltage-gated channel subfamily C member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
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NCBI chr 5:38,326,408...38,535,826
Ensembl chr 5:38,326,414...38,533,110
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G |
KCNH5 |
potassium voltage-gated channel subfamily H member 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532 PMID:31440721 PMID:32725632 PMID:35874597 PMID:36307226 More...
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NCBI chr 1:194,965,696...195,264,046
Ensembl chr 1:194,966,334...195,259,068
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G |
KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111
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G |
KCNQ2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy |
ClinVar |
PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 PMID:9872318 PMID:10363917 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12742592 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14985406 PMID:15030501 PMID:15596769 PMID:16039833 PMID:16199547 PMID:16260777 PMID:16319223 PMID:16597729 PMID:16686649 PMID:16691402 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17290276 PMID:17475800 PMID:17576681 PMID:17675531 PMID:17872363 PMID:17993630 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:18625963 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19464834 PMID:19559753 PMID:19822871 PMID:20119593 PMID:20437616 PMID:20805988 PMID:21685056 PMID:21937445 PMID:22013194 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23166088 PMID:23271449 PMID:23360469 PMID:23440208 PMID:23453664 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23797855 PMID:23849776 PMID:23934111 PMID:23959892 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24586341 PMID:24759409 PMID:24811917 PMID:24848745 PMID:24904429 PMID:25046240 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25590979 PMID:25607374 PMID:25640679 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25921748 PMID:25951140 PMID:25959266 PMID:25960349 PMID:25982755 PMID:26007637 PMID:26030193 PMID:26070303 PMID:26073431 PMID:26138355 PMID:26446091 PMID:26467025 PMID:26469389 PMID:26544041 PMID:26704558 PMID:26758118 PMID:26795593 PMID:26993267 PMID:27030113 PMID:27054081 PMID:27334371 PMID:27466704 PMID:27535030 PMID: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 chr17:62,459,277...62,506,403
Ensembl chr17:62,459,281...62,506,424
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KIF2C |
kinesin family member 2C |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:166,556,765...166,577,904
Ensembl chr 6:166,556,776...166,577,904
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G |
KIFC3 |
kinesin family member C3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:19,659,987...19,696,104
Ensembl chr 6:19,659,616...19,696,073
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G |
KLF17 |
KLF transcription factor 17 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:167,176,834...167,188,418
Ensembl chr 6:167,176,834...167,188,418
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G |
KYAT1 |
kynurenine aminotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:269,172,628...269,209,553
Ensembl chr 1:269,172,628...269,209,478
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G |
LAMA5 |
laminin subunit alpha 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:61,698,370...61,747,795
Ensembl chr17:61,697,517...61,747,955
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G |
LAMC3 |
laminin subunit gamma 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:271,004,423...271,071,223
Ensembl chr 1:271,004,433...271,071,223
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LCN2 |
lipocalin 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
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LIME1 |
Lck interacting transmembrane adaptor 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr17:62,652,618...62,655,342
Ensembl chr17:62,652,996...62,655,336
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LMNTD2 |
lamin tail domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:323,642...329,782
Ensembl chr 2:323,647...329,660
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LMX1B |
LIM homeobox transcription factor 1 beta |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 1:267,207,273...267,290,862
Ensembl chr 1:267,207,419...267,287,729
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LOC100511937 |
phosphatidylinositol 3-kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:165,268,260...165,402,668
Ensembl chr 6:165,268,568...165,402,649
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LOC100517372 |
cytochrome b561 domain-containing protein 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31785789 More...
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NCBI chr13:32,834,206...32,837,007
Ensembl chr13:32,834,239...32,837,002
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LOC102159152 |
mas-related G-protein coupled receptor member X2-like |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:2,329,261...2,330,710
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G |
LOC102161418 |
interferon-induced transmembrane protein 1-like |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:156,364...157,650
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LOC102164011 |
DNA-directed RNA polymerases I, II, and III subunit RPABC5-like |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:109,821,516...109,823,848
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LOC102166944 |
metallothionein-1E-like |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:18,660,665...18,662,000
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LOC110261286 |
zinc finger protein 345-like |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:56,774,611...56,788,040
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G |
LRRC56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699
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LRRC8A |
leucine rich repeat containing 8 VRAC subunit A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:269,209,660...269,238,529
Ensembl chr 1:269,209,693...269,238,521
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LRSAM1 |
leucine rich repeat and sterile alpha motif containing 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 1:267,964,875...268,008,833
Ensembl chr 1:267,964,928...268,008,825
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LSMEM2 |
leucine rich single-pass membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,752,515...32,757,042
Ensembl chr13:32,753,199...32,757,034
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LSP1 |
lymphocyte specific protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:1,261,957...1,295,891
Ensembl chr 2:1,262,079...1,295,887
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MAPKAPK3 |
MAPK activated protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:33,097,329...33,125,820
Ensembl chr13:33,097,393...33,125,818
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MAST2 |
microtubule associated serine/threonine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:165,406,876...165,620,029
Ensembl chr 6:165,406,878...165,619,933
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MAST3 |
microtubule associated serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:34185323 |
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NCBI chr 2:59,652,900...59,699,372
Ensembl chr 2:59,653,147...59,699,320
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MED27 |
mediator complex subunit 27 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:271,724,910...271,928,367
Ensembl chr 1:271,724,910...271,928,367
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MIGA2 |
mitoguardin 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:269,334,938...269,363,938
Ensembl chr 1:269,334,838...269,363,936
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MIR1 |
microRNA mir-1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:61,894,036...61,894,143
Ensembl chr17:61,894,036...61,894,143
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MIR133A-1 |
microRNA mir-133a-1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:61,904,781...61,904,883
Ensembl chr17:61,904,781...61,904,883
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MIR199B |
microRNA mir-199b |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,691,520...268,691,593
Ensembl chr 1:268,691,502...268,691,610
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MIR219A |
microRNA mir-219a |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 |
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NCBI chr 7:25,250,839...25,250,921
Ensembl chr 7:25,250,839...25,250,921
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MIR219B |
microRNA mir-219b |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 |
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NCBI chr 1:268,816,967...268,817,050
Ensembl chr 1:268,816,961...268,817,057
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MMACHC |
metabolism of cobalamin associated C |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:165,860,888...165,865,674
Ensembl chr 6:165,860,785...165,865,642
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MMP15 |
matrix metallopeptidase 15 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:19,890,867...19,912,941
Ensembl chr 6:19,891,107...19,912,913
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MOB2 |
MOB kinase activator 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:959,203...993,674
Ensembl chr 2:958,904...971,402
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G |
MON1A |
MON1 homolog A, secretory trafficking associated |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,426,733...32,437,735
Ensembl chr13:32,426,736...32,437,862
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MRGBP |
MRG domain binding protein |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:62,058,401...62,062,962
Ensembl chr17:62,058,424...62,062,960
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MRGPRG |
MAS related GPR family member G |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:2,296,515...2,315,412
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G |
MRPL23 |
mitochondrial ribosomal protein L23 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:1,346,864...1,356,539
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MRPS30 |
mitochondrial ribosomal protein S30 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:29,110,736...29,200,865
Ensembl chr16:29,111,950...29,126,348
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MST1 |
macrophage stimulating 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,214,934...32,220,045
Ensembl chr13:32,214,937...32,219,902
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G |
MST1R |
macrophage stimulating 1 receptor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,401,623...32,423,614
Ensembl chr13:32,409,555...32,421,920
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G |
MT-2B |
metallothionein-2A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:18,645,125...18,646,034
Ensembl chr 6:18,645,153...18,646,033
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G |
MT1A |
metallothionein 1A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:18,672,016...18,673,673
Ensembl chr 6:18,672,001...18,673,672
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G |
MT3 |
metallothionein 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:18,634,735...18,636,134
Ensembl chr 6:18,634,261...18,636,131
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G |
MT4 |
metallothionein 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:18,611,245...18,613,956
Ensembl chr 6:18,610,820...18,614,782
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G |
MUC2 |
mucin 2, oligomeric mucus/gel-forming |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:689,363...719,542
Ensembl chr 2:689,364...710,330
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G |
MUC5AC |
mucin 5AC, oligomeric mucus/gel-forming |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:757,897...790,321
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G |
MUC5B |
mucin 5B, oligomeric mucus/gel-forming |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:807,685...842,096
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G |
MUC6 |
mucin 6, oligomeric mucus/gel-forming |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:630,075...657,967
Ensembl chr 2:629,796...655,380
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G |
MUTYH |
mutY DNA glycosylase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:166,002,853...166,012,191
Ensembl chr 6:166,003,351...166,012,190
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G |
NAIF1 |
nuclear apoptosis inducing factor 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,522,131...268,531,528
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G |
NAP1L4 |
nucleosome assembly protein 1 like 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:2,070,140...2,117,503
Ensembl chr 2:2,070,142...2,117,615
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G |
NASP |
nuclear autoantigenic sperm protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:165,773,964...165,804,978
Ensembl chr 6:165,770,055...165,805,383
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G |
NCS1 |
neuronal calcium sensor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:270,274,504...270,334,908
Ensembl chr 1:270,274,562...270,334,907
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|
G |
NDRG4 |
NDRG family member 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:20,222,876...20,265,581
Ensembl chr 6:20,223,667...20,265,576
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|
G |
NIBAN2 |
niban apoptosis regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 1:268,010,297...268,066,022
Ensembl chr 1:268,010,297...268,065,930
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|
G |
NKAIN4 |
sodium/potassium transporting ATPase interacting 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr17:62,356,862...62,369,461
Ensembl chr17:62,356,422...62,380,859
|
|
G |
NLRC5 |
NLR family CARD domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:18,933,179...19,036,288
Ensembl chr 6:18,937,677...19,036,820
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|
G |
NNT |
nicotinamide nucleotide transhydrogenase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr16:28,157,192...28,248,732
Ensembl chr16:28,157,318...28,250,961
|
|
G |
NPRL2 |
NPR2 like, GATOR1 complex subunit |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 PMID:30410802 |
|
NCBI chr13:32,830,895...32,834,205
Ensembl chr13:32,830,899...32,834,183
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|
G |
NTMT1 |
N-terminal Xaa-Pro-Lys N-methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,819,774...269,828,832
Ensembl chr 1:269,819,753...269,828,831
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|
G |
NTNG2 |
netrin G2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:272,007,513...272,077,105
Ensembl chr 1:272,012,112...272,077,018
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|
G |
NTSR1 |
neurotensin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr17:61,989,601...62,038,299
Ensembl chr17:61,989,402...62,033,548
|
|
G |
NUDT21 |
nudix hydrolase 21 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:29,339,893...29,359,596
Ensembl chr 6:29,339,841...29,363,312
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|
G |
NUP188 |
nucleoporin 188 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,259,496...269,312,872
Ensembl chr 1:269,259,519...269,312,862
|
|
G |
NUP214 |
nucleoporin 214 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:271,103,838...271,210,292
Ensembl chr 1:271,104,033...271,210,288
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|
G |
NUP93 |
nucleoporin 93 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:18,711,869...18,827,705
Ensembl chr 6:18,711,911...18,827,887
|
|
G |
NUP98 |
nucleoporin 98 and 96 precursor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:6,319,616...6,419,652
Ensembl chr 9:6,319,650...6,419,660
|
|
G |
ODF2 |
outer dense fiber of sperm tails 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chr 1:268,856,755...268,893,390
Ensembl chr 1:268,856,766...268,893,387
|
|
G |
OGFOD1 |
2-oxoglutarate and iron dependent oxygenase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:29,312,741...29,339,701
Ensembl chr 6:29,312,750...29,339,711
|
|
G |
OGFR |
opioid growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr17:62,065,483...62,072,950
Ensembl chr17:62,065,456...62,072,950
|
|
G |
OSBPL2 |
oxysterol binding protein like 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr17:61,643,263...61,683,178
Ensembl chr17:61,643,377...61,685,819
|
|
G |
OSBPL5 |
oxysterol binding protein like 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:2,201,615...2,261,946
Ensembl chr 2:2,201,385...2,261,927
|
|
G |
PAIP1 |
poly(A) binding protein interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr16:28,098,580...28,134,296
Ensembl chr16:28,098,581...28,133,788
|
|
G |
PGAP2 |
post-GPI attachment to proteins 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:6,294,471...6,319,317
Ensembl chr 9:6,291,930...6,319,409
|
|
G |
PHLDA2 |
pleckstrin homology like domain family A member 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:2,057,679...2,058,675
Ensembl chr 2:2,057,681...2,058,694
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|
G |
PHRF1 |
PHD and ring finger domains 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:340,536...371,699
Ensembl chr 2:340,528...371,692
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|
G |
PHYHD1 |
phytanoyl-CoA dioxygenase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,241,955...269,254,708
Ensembl chr 1:269,242,734...269,254,670
|
|
G |
PIDD1 |
p53-induced death domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:499,294...505,740
Ensembl chr 2:499,303...504,871
|
|
G |
PIGP |
phosphatidylinositol glycan anchor biosynthesis class P |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915 |
|
NCBI chr13:200,686,716...200,695,537
Ensembl chr13:200,686,666...200,695,320
|
|
G |
PIP5KL1 |
phosphatidylinositol-4-phosphate 5-kinase like 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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|
NCBI chr 1:268,409,113...268,417,580
Ensembl chr 1:268,408,448...268,417,944
|
|
G |
PKN3 |
protein kinase N3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,069,088...269,081,334
Ensembl chr 1:269,070,512...269,081,334
|
|
G |
PKP3 |
plakophilin 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:214,238...222,762
Ensembl chr 2:214,170...223,511
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|
G |
PLK3 |
polo like kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:166,528,760...166,533,734
Ensembl chr 6:166,528,765...166,533,731
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|
G |
PLLP |
plasmolipin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,214,037...19,241,251
Ensembl chr 6:19,211,761...19,241,228
|
|
G |
PLPP7 |
phospholipid phosphatase 7 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:271,268,843...271,283,657
Ensembl chr 1:271,268,870...271,283,655
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|
G |
PNPLA2 |
patatin like phospholipase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:513,065...517,962
Ensembl chr 2:513,077...518,182
|
|
G |
POLR2C |
RNA polymerase II subunit C |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,393,569...19,401,119
Ensembl chr 6:19,393,597...19,401,116
|
|
G |
POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
|
|
G |
POMT1 |
protein O-mannosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461
|
|
G |
PPDPF |
pancreatic progenitor cell differentiation and proliferation factor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26758118 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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|
NCBI chr17:62,537,510...62,539,012
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|
G |
PRDM12 |
PR/SET domain 12 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:270,723,880...270,739,468
Ensembl chr 1:270,723,681...270,739,468
|
|
G |
PRDX1 |
peroxiredoxin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:165,847,390...165,859,918
Ensembl chr 6:165,824,395...165,861,442
|
|
G |
PRPF6 |
pre-mRNA processing factor 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr17:62,815,509...62,857,795
Ensembl chr17:62,815,085...62,858,382
|
|
G |
PRRC2B |
proline rich coiled-coil 2B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:271,336,780...271,430,936
Ensembl chr 1:271,336,818...271,430,916
|
|
G |
PRRX2 |
paired related homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,853,134...269,902,808
Ensembl chr 1:269,853,200...269,903,469
|
|
G |
PRSS54 |
serine protease 54 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:20,085,494...20,090,486
Ensembl chr 6:20,083,221...20,100,786
|
|
G |
PSME3IP1 |
proteasome activator subunit 3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr 6:19,098,097...19,154,288
Ensembl chr 6:19,102,013...19,154,177
|
|
G |
PTCH2 |
patched 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:166,491,649...166,513,137
Ensembl chr 6:166,495,763...166,512,648
|
|
G |
PTDSS2 |
phosphatidylserine synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:256,753...280,803
Ensembl chr 2:256,895...280,797
|
|
G |
PTGES |
prostaglandin E synthase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,911,785...269,924,481
Ensembl chr 1:269,911,789...269,924,462
|
|
G |
PTGES2 |
prostaglandin E synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chr 1:268,585,725...268,591,356
Ensembl chr 1:268,583,439...268,590,855
|
|
G |
PTK6 |
protein tyrosine kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:26030193 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
|
|
NCBI chr17:62,538,853...62,547,866
Ensembl chr17:62,538,855...62,546,870
|
|
G |
PTPA |
protein phosphatase 2 phosphatase activator |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,401,776...269,431,465
Ensembl chr 1:269,401,514...269,431,462
|
|
G |
PTRH1 |
peptidyl-tRNA hydrolase 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
|
|
NCBI chr 1:268,213,685...268,215,498
Ensembl chr 1:268,213,687...268,215,523
|
|
G |
QRFP |
pyroglutamylated RFamide peptide |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:270,909,323...270,917,674
Ensembl chr 1:270,911,878...270,912,282
|
|
G |
RALGPS1 |
Ral GEF with PH domain and SH3 binding motif 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
|
|
NCBI chr 1:267,437,066...267,770,444
Ensembl chr 1:267,480,750...267,770,440
|
|
G |
RAPGEF1 |
Rap guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:271,494,243...271,624,609
Ensembl chr 1:271,494,248...271,600,920
|
|
G |
RASSF1 |
Ras association domain family member 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr13:32,816,156...32,825,486
Ensembl chr13:32,816,156...32,825,226
|
|
G |
RASSF7 |
Ras association domain family member 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:329,830...332,505
Ensembl chr 2:329,851...332,520
|
|
G |
RBBP8NL |
RBBP8 N-terminal like |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
|
NCBI chr17:61,778,579...61,794,258
Ensembl chr17:61,782,605...61,787,321
|
|
G |
RBM5 |
RNA binding motif protein 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr13:32,579,780...32,612,716
Ensembl chr13:32,579,983...32,612,710
|
|
G |
RBM6 |
RNA binding motif protein 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr13:32,444,944...32,569,818
Ensembl chr13:32,444,963...32,569,815
|
|
G |
RHOG |
ras homolog family member G |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:6,283,558...6,295,376
|
|
G |
RNF123 |
ring finger protein 123 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
|
NCBI chr13:32,216,761...32,250,742
Ensembl chr13:32,218,384...32,250,739
|
|
G |
RNF220 |
ring finger protein 220 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:166,666,140...166,910,728
Ensembl chr 6:166,666,138...166,910,646
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G |
RNH1 |
ribonuclease/angiogenin inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:281,919...290,522
Ensembl chr 2:281,928...290,079
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G |
RPL12 |
ribosomal protein L12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 1:267,961,398...267,964,881
Ensembl chr 1:267,961,404...267,964,881
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G |
RPLP2 |
ribosomal protein lateral stalk subunit P2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:507,891...509,818
Ensembl chr 2:507,848...510,782
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G |
RPS21 |
ribosomal protein S21 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:61,763,606...61,764,823
Ensembl chr17:61,763,574...61,764,832
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G |
RPS8 |
ribosomal protein S8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:166,550,574...166,553,289
Ensembl chr 6:166,549,949...166,553,230
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G |
RSPRY1 |
ring finger and SPRY domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:19,154,413...19,204,827
Ensembl chr 6:19,154,417...19,204,826
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G |
RTEL1 |
regulator of telomere elongation helicase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690
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G |
RYR3 |
ryanodine receptor 3 |
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ISO |
ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491
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G |
SAMD10 |
sterile alpha motif domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:62,809,504...62,813,993
Ensembl chr17:62,809,504...62,813,991
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G |
SCN1A |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy |
ClinVar |
PMID:1868258 PMID:1893099 PMID:9126059 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11524484 PMID:11567038 PMID:11756608 PMID:11823106 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12535936 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12773292 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15133511 PMID:15263074 PMID:15277629 PMID:15508916 PMID:15694566 PMID:15805193 PMID:15880351 PMID:16075041 PMID:16199547 PMID:16210358 PMID:16359470 PMID:16380441 PMID:16458823 PMID:16525050 PMID:16541393 PMID:16713913 PMID:16713920 PMID:16865694 PMID:17001291 PMID:17054684 PMID:17054685 PMID:17129991 PMID:17166794 PMID:17347258 PMID:17436242 PMID:17470132 PMID:17507202 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17679682 PMID:17903680 PMID:17928445 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18251839 PMID:18327258 PMID:18330841 PMID:18413471 PMID:18414213 PMID:18479393 PMID:18554359 PMID:18566737 PMID:18621678 PMID:18632234 PMID:18755274 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19220312 PMID:19236456 PMID:19289736 PMID:19303743 PMID:19304393 PMID:19332696 PMID:19339291 PMID:19350499 PMID:19359143 PMID:19400878 PMID:19464195 PMID:19522081 PMID:19563349 PMID:19563458 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19763152 PMID:19763161 PMID:19782004 PMID:19783390 PMID:19809937 PMID:19949041 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20301494 PMID:20301562 PMID:20307669 PMID:20358599 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20619928 PMID:20729507 PMID:20738378 PMID:20879882 PMID:21068128 PMID:21248271 PMID:21258341 PMID:21371021 PMID:21396429 PMID:21416599 PMID:21425109 PMID:21426328 PMID:21555645 PMID:21692795 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21775168 PMID:21844054 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22028529 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22188362 PMID:22292851 PMID:22406018 PMID:22409937 PMID:22495306 PMID:22525008 PMID:22550089 PMID:22591328 PMID:22612257 PMID:22780858 PMID:22781031 PMID:22848613 PMID:22944210 PMID:22992668 PMID:23016767 PMID:23020937 PMID:23032131 PMID:23086956 PMID:23103419 PMID:23184456 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23485646 PMID:23527921 PMID:23559409 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:23945787 PMID:24066114 PMID:24097157 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24337656 PMID:24412860 PMID:24472396 PMID:24502503 PMID:24623842 PMID:24650168 PMID:24656210 PMID:24679980 PMID:24848745 PMID:24876116 PMID:25108116 PMID:25206388 PMID:25243660 PMID:25253744 PMID:25326635 PMID:25348405 PMID:25356970 PMID:25378155 PMID:25401298 PMID:25439579 PMID:25459968 PMID:25459969 PMID:25492405 PMID:25524840 PMID:25525159 PMID:25569746 PMID:25576396 PMID:25590135 PMID:25640679 PMID:25669891 PMID:25741868 PMID:25754450 PMID:25795284 PMID:25818041 PMID:25885068 PMID:25986186 PMID:25995458 PMID:26068938 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26236192 PMID:26252084 PMID:26311622 PMID:26314341 PMID:26339958 PMID:26394714 PMID:26467025 PMID:26544041 PMID:26555147 PMID:26633542 PMID:26680202 PMID:26699486 PMID:26763045 PMID:26795593 PMID:26845707 PMID:26863999 PMID:26934580 PMID:26990884 PMID:26993267 PMID:27029629 PMID:27066544 PMID:27113213 PMID:27155821 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27458797 PMID:27465585 PMID:27491411 PMID:27541642 PMID:27582020 PMID:27652284 PMID:27734276 PMID:27781031 PMID:27864847 PMID:27959697 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28166811 PMID:28186331 PMID:28192756 PMID:28202706 PMID:28356460 PMID:28379373 PMID:28387369 PMID:28469861 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28518218 PMID:28525652 PMID:28544625 PMID:28554332 PMID:28664031 PMID:28708303 PMID:28735751 PMID:28794249 PMID:28837158 PMID:28842445 PMID:28864458 PMID:28951233 PMID:29056246 PMID:29068549 PMID:29095814 PMID:29100083 PMID:29141279 PMID:29141311 PMID:29142202 PMID:29145747 PMID:29186148 PMID:29188601 PMID:29190809 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29455050 PMID:29460957 PMID:29573403 PMID:29655203 PMID:29720203 PMID:29739726 PMID:29745119 PMID:29760947 PMID:29778030 PMID:29852413 PMID:29930392 PMID:29933521 PMID:29948376 PMID:29981888 PMID:29986598 PMID:30011152 PMID:30034362 PMID:30146492 PMID:30182498 PMID:30182801 PMID:30185235 PMID:30258939 PMID:30321769 PMID:30368457 PMID:30498473 PMID:30525188 PMID:30526861 PMID:30558019 PMID:30564305 PMID:30577886 PMID:30619928 PMID:30659983 PMID:30660939 PMID:30779207 PMID:30795902 PMID:30805006 PMID:30868114 PMID:30921204 PMID:30945278 PMID:30977726 PMID:31001185 PMID:31009440 PMID:31019026 PMID:31031587 PMID:31054490 PMID:31069529 PMID:31139143 PMID:31164858 PMID:31175295 PMID:31273778 PMID:31302675 PMID:31439038 PMID:31440721 PMID:31487502 PMID:31618474 PMID:31618753 PMID:31677916 PMID:31720899 PMID:31730442 PMID:31755124 PMID:31765958 PMID:31780880 PMID:31782251 PMID:31791873 PMID:31864146 PMID:31875159 PMID:31880072 PMID:32031527 PMID:32056211 PMID:32090326 PMID:32139178 PMID:32238909 PMID:32276107 PMID:32461654 PMID:32538476 PMID:32573669 PMID:32581296 PMID:32581362 PMID:32593896 PMID:32613771 PMID:32702657 PMID:32845893 PMID:33067208 PMID:33084218 PMID:33108073 PMID:33278787 PMID:33391346 PMID:33411788 PMID:33674996 PMID:33895391 PMID:34015165 PMID:34055682 PMID:34106054 PMID:34107977 PMID:34163418 PMID:34174751 PMID:34268891 PMID:34338318 PMID:34379890 PMID:34489640 PMID:34539730 PMID:34645491 PMID:34712263 PMID:34917021 PMID:34938262 PMID:35072530 PMID:35074891 PMID:35087721 PMID:35231114 PMID:35571373 PMID:35627257 PMID:35663268 PMID:36158059 PMID:36229510 PMID:36287100 PMID:36636894 PMID:36684540 PMID:39033378 More...
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NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066
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G |
SCN2A |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:15048894 PMID:15133511 PMID:16865694 PMID:17021166 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479388 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20371507 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:23935176 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25741868 PMID:25995458 PMID:26068938 PMID:26993267 PMID:27491411 PMID:27779742 PMID:27781031 PMID:28379373 PMID:28492532 PMID:28709814 PMID:29068549 PMID:29100083 PMID:29655203 PMID:30381472 PMID:30619928 PMID:31054490 PMID:31302675 PMID:31780880 PMID:31904120 PMID:31904126 PMID:32400968 PMID:34782754 PMID:35431799 PMID:36684540 PMID:37578743 More...
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NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211
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G |
SCN3A |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:10051516 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18242854 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20420834 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:22787448 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24157691 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25741868 PMID:25995458 PMID:26068938 PMID:26467025 PMID:27491411 PMID:28235671 PMID:28379373 PMID:28492532 PMID:29068549 PMID:29466837 PMID:29740860 PMID:30146301 PMID:30904718 PMID:31871067 PMID:32183904 PMID:32515017 PMID:34081427 More...
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NCBI chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160
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G |
SCN8A |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:12374766 PMID:15525788 PMID:15800189 PMID:16199547 PMID:17576681 PMID:17881658 PMID:18414213 PMID:19254928 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:24194747 PMID:24352161 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25568300 PMID:25666757 PMID:25725044 PMID:25741868 PMID:25785782 PMID:25799905 PMID:25818041 PMID:25849321 PMID:25914188 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235739 PMID:26252990 PMID:26297079 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26647175 PMID:26677014 PMID:26900580 PMID:26993267 PMID:27165006 PMID:27210545 PMID:27267376 PMID:27375106 PMID:27659738 PMID:27779742 PMID:27781031 PMID:27864847 PMID:27875746 PMID:27900360 PMID:28135719 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28702509 PMID:28735751 PMID:28923014 PMID:28973083 PMID:29056246 PMID:29100083 PMID:29121005 PMID:29186148 PMID:29263050 PMID:29356177 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:29852413 PMID:29933521 PMID:30078772 PMID:30109124 PMID:30171078 PMID:30185235 PMID:30314295 PMID:30615093 PMID:30951195 PMID:30968951 PMID:31026061 PMID:31054490 PMID:31069529 PMID:31335965 PMID:31402610 PMID:31487502 PMID:31618753 PMID:31625145 PMID:31675620 PMID:31715021 PMID:31887642 PMID:31904124 PMID:32040247 PMID:32090326 PMID:32651551 PMID:32725632 PMID:32901917 PMID:32916281 PMID:32920374 PMID:33004838 PMID:33201365 PMID:33827760 PMID:33851778 PMID:34120799 PMID:34431999 PMID:34979445 PMID:35188110 PMID:35701389 More...
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NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
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G |
SCN9A |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID: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 chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382
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G |
SCT |
secretin |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:382,783...385,082
Ensembl chr 2:383,799...384,841
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G |
SELENOP |
selenoprotein P |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:27,537,885...27,547,863
Ensembl chr16:27,537,885...27,631,130
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G |
SEMA3B |
semaphorin 3B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,737,100...32,749,633
Ensembl chr13:32,740,802...32,749,621
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G |
SEMA3F |
semaphorin 3F |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,641,376...32,671,231
Ensembl chr13:32,641,424...32,671,223
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G |
SET |
SET nuclear proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:269,050,447...269,064,462
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G |
SETD6 |
SET domain containing 6, protein lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:20,266,540...20,270,709
Ensembl chr 6:20,266,552...20,274,658
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G |
SETX |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
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G |
SH2D3C |
SH2 domain containing 3C |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,238,967...268,270,395
Ensembl chr 1:268,238,973...268,270,361
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G |
SH3GLB2 |
SH3 domain containing GRB2 like, endophilin B2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,313,788...269,332,351
Ensembl chr 1:269,312,825...269,332,344
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G |
SIGIRR |
single Ig and TIR domain containing |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:223,691...226,542
Ensembl chr 2:223,520...230,741
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G |
SLC12A3 |
solute carrier family 12 member 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:18,844,752...18,885,497
Ensembl chr 6:18,844,600...18,885,476
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G |
SLC17A9 |
solute carrier family 17 member 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:62,186,114...62,200,091
Ensembl chr17:62,186,112...62,200,084
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G |
SLC22A18 |
solute carrier family 22 member 18 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:2,032,370...2,055,756
Ensembl chr 2:2,028,396...2,055,750
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G |
SLC25A22 |
solute carrier family 25 member 22 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:15592994 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19780765 PMID:25033742 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28255779 PMID:28454995 PMID:28492532 PMID:29924869 PMID:31589614 More...
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NCBI chr 2:491,288...498,773
Ensembl chr 2:491,293...498,767
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G |
SLC25A25 |
solute carrier family 25 member 25 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,531,752...268,575,195
Ensembl chr 1:268,531,752...268,576,994
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SLC27A4 |
solute carrier family 27 member 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,773,792...268,788,208
Ensembl chr 1:268,773,806...268,788,731
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SLC2A4RG |
SLC2A4 regulator |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr17:62,655,992...62,659,620
Ensembl chr17:62,657,566...62,659,615
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SLC2A8 |
solute carrier family 2 member 8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 1:267,925,184...267,934,096
Ensembl chr 1:267,925,193...267,937,038
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G |
SLC38A3 |
solute carrier family 38 member 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,683,131...32,699,803
Ensembl chr13:32,683,126...32,704,535
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G |
SLC38A7 |
solute carrier family 38 member 7 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:20,387,113...20,401,733
Ensembl chr 6:20,337,137...20,401,684
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G |
SLC6A9 |
solute carrier family 6 member 9 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:23252400 PMID:28492532 PMID:31584066 |
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NCBI chr 6:167,267,193...167,301,598
Ensembl chr 6:167,268,963...167,301,599
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G |
SLCO4A1 |
solute carrier organic anion transporter family member 4A1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:61,947,636...61,969,391
Ensembl chr17:61,947,628...61,969,970
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G |
SNAP25 |
synaptosome associated protein 25 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:15044754 PMID:15834421 PMID:25381298 PMID:25741868 PMID:28492532 PMID:29100083 PMID:29355968 PMID:29491473 PMID:33147442 PMID:33299146 More...
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NCBI chr17:19,096,115...19,227,580
Ensembl chr17:19,141,464...19,227,576
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G |
SOX18 |
SRY-box transcription factor 18 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:62,869,868...62,871,758
Ensembl chr17:62,869,870...62,871,748
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SPACA9 |
sperm acrosome associated 9 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:272,625,701...272,635,406
Ensembl chr 1:272,625,712...272,636,346
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G |
SPMIP8 |
sperm microtubule inner protein 8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:19,832,473...19,838,181
Ensembl chr 6:19,832,473...19,838,181
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SPOUT1 |
SPOUT domain containing methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:269,157,173...269,167,154
Ensembl chr 1:269,157,176...269,167,087
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SPTAN1 |
spectrin alpha, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 PMID:20228407 PMID:20887364 PMID:22258530 PMID:22368301 PMID:22722545 PMID:24183449 PMID:24183451 PMID:25224718 PMID:25640679 PMID:25658047 PMID:25741868 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26539891 PMID:26704558 PMID:26865513 PMID:28199897 PMID:28379358 PMID:28492532 PMID:29050398 PMID:29264391 PMID:29358611 PMID:29655203 PMID:31069529 PMID:31332438 PMID:31452935 PMID:31515523 PMID:31785789 PMID:32811770 PMID:33206935 PMID:33578420 PMID:34172529 PMID:34489640 PMID:34556655 PMID:34590414 PMID:34653234 PMID:35150594 PMID:36331550 More...
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NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256
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SRMS |
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr17:62,549,025...62,555,904
Ensembl chr17:62,548,182...62,556,975
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ST3GAL3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
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 6:167,363,348...167,596,892
Ensembl chr 6:167,363,347...167,595,835
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ST6GALNAC4 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,391,851...268,402,449
Ensembl chr 1:268,391,855...268,402,407
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G |
ST6GALNAC6 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,371,569...268,383,559
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STIM1 |
stromal interaction molecule 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575
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STMN3 |
stathmin 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr17:62,600,450...62,609,851
Ensembl chr17:62,600,455...62,609,018
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STXBP1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 PMID:19557857 PMID:20603329 PMID:20876469 PMID:20887364 PMID:21062273 PMID:21193638 PMID:21204804 PMID:21364700 PMID:21762454 PMID:21770924 PMID:21900502 PMID:22211739 PMID:22368301 PMID:22495311 PMID:22612257 PMID:22722545 PMID:23020937 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23858467 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25326390 PMID:25326635 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25533962 PMID:25556537 PMID:25640679 PMID:25658047 PMID:25693842 PMID:25714420 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26648591 PMID:26795593 PMID:26865513 PMID:26918652 PMID:26993267 PMID:27069701 PMID:27159321 PMID:27171548 PMID:27184330 PMID:27652284 PMID:27779742 PMID:27798625 PMID:28133863 PMID:28135719 PMID:28387360 PMID:28387369 PMID:28492532 PMID:28628100 PMID:28771251 PMID:28947817 PMID:29056246 PMID:29067685 PMID:29186148 PMID:29264391 PMID:29314583 PMID:29538625 PMID:29655203 PMID:29760947 PMID:29761117 PMID:29896790 PMID:30174244 PMID:30185235 PMID:30266908 PMID:30397338 PMID:30488659 PMID:30504930 PMID:30540253 PMID:30842647 PMID:30945278 PMID:31175295 PMID:31221716 PMID:31255830 PMID:31332438 PMID:31474318 PMID:31780880 PMID:32005694 PMID:32112430 PMID:32238909 PMID:32371413 PMID:32521962 PMID:32581362 PMID:32643187 PMID:32960281 PMID:33004838 PMID:33176815 PMID:33196034 PMID:33206935 PMID:33272087 PMID:34145886 PMID:34172529 PMID:34247411 PMID:34445196 PMID:34489640 PMID:34490615 PMID:35007884 PMID:35655584 More...
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NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778
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SWI5 |
SWI5 homologous recombination repair protein |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,720,232...268,726,527
Ensembl chr 1:268,720,355...268,726,521
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SYT8 |
synaptotagmin 8 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:1,245,988...1,250,422
Ensembl chr 2:1,247,878...1,250,437
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SZT2 |
SZT2 subunit of KICSTOR complex |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:167,811,589...167,861,321
Ensembl chr 6:167,811,598...167,861,583
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TALDO1 |
transaldolase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:464,781...472,836
Ensembl chr 2:464,728...472,835
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TBC1D13 |
TBC1 domain family member 13 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:269,134,532...269,153,056
Ensembl chr 1:269,134,160...269,152,284
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G |
TCFL5 |
transcription factor like 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:62,093,906...62,115,669
Ensembl chr17:62,093,907...62,115,650
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G |
TESK2 |
testis associated actin remodelling kinase 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:165,874,176...166,000,002
Ensembl chr 6:165,874,180...165,999,999
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TH |
tyrosine hydroxylase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170
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G |
TMEM115 |
transmembrane protein 115 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 PMID:30410802 |
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NCBI chr13:32,837,662...32,842,922
Ensembl chr13:32,837,667...32,842,959
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TMEM267 |
transmembrane protein 267 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:28,027,401...28,060,633
Ensembl chr16:28,027,425...28,042,884
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TMEM53 |
transmembrane protein 53 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:166,645,103...166,664,382
Ensembl chr 6:166,645,098...166,680,654
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G |
TMEM63B |
transmembrane protein 63B |
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ISO |
ClinVar Annotator: match by term: TMEM63B-associated disorder |
ClinVar |
PMID:25741868 PMID:37421948 |
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NCBI chr 7:39,137,684...39,165,093
Ensembl chr 7:39,138,431...39,165,077
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TMEM69 |
transmembrane protein 69 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:165,704,599...165,708,983
Ensembl chr 6:165,704,617...165,709,964
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TMEM80 |
transmembrane protein 80 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:428,297...433,533
Ensembl chr 2:428,303...433,528
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G |
TNFRSF6B |
TNF receptor superfamily member 6b |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr17:62,635,024...62,637,520
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G |
TNK2 |
tyrosine kinase non receptor 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr13:134,082,266...134,124,826
Ensembl chr13:134,101,377...134,124,824
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G |
TNNI2 |
troponin I2, fast skeletal type |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:1,251,566...1,253,883
Ensembl chr 2:1,251,527...1,253,893
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G |
TNNT3 |
troponin T3, fast skeletal type |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:1,297,826...1,316,865
Ensembl chr 2:1,299,174...1,316,517
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G |
TOE1 |
target of EGR1, exonuclease |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:165,999,920...166,003,570
Ensembl chr 6:165,999,904...166,012,377
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G |
TOLLIP |
toll interacting protein |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:852,198...864,337
Ensembl chr 2:851,512...864,483
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G |
TOR1A |
torsin family 1 member A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:269,975,919...269,985,478
Ensembl chr 1:269,974,935...269,985,523
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G |
TOR1B |
torsin family 1 member B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:269,966,919...269,973,702
Ensembl chr 1:269,967,008...269,973,693
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G |
TOR2A |
torsin family 2 member A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,233,103...268,237,478
Ensembl chr 1:268,233,110...268,237,458
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G |
TPD52L2 |
TPD52 like 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr17:62,733,555...62,750,566
Ensembl chr17:62,733,593...62,750,557
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G |
TRAIP |
TRAF interacting protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,332,336...32,380,988
Ensembl chr13:32,345,599...32,379,766
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G |
TRPM5 |
transient receptor potential cation channel subfamily M member 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:1,646,597...1,664,935
Ensembl chr 2:1,647,160...1,664,933
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G |
TRUB2 |
TruB pseudouridine synthase family member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,745,815...268,757,771
Ensembl chr 1:268,746,329...268,757,494
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G |
TSC1 |
TSC complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951
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G |
TSPAN1 |
tetraspanin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217
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G |
TSPAN32 |
tetraspanin 32 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:1,584,486...1,599,411
Ensembl chr 2:1,584,842...1,602,888
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G |
TSPAN4 |
tetraspanin 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:532,087...550,706
Ensembl chr 2:534,341...550,697
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G |
TSSC4 |
tumor suppressing subtransferable candidate 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:1,642,693...1,645,860
Ensembl chr 2:1,643,006...1,645,858
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G |
TTC16 |
tetratricopeptide repeat domain 16 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,215,559...268,233,175
Ensembl chr 1:268,215,850...268,233,173
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G |
TTC21B |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14738421 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23195492 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25995458 PMID:26068938 PMID:27465585 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549 More...
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NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,726...72,512,491
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TTF1 |
transcription termination factor 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:272,180,488...272,212,504
Ensembl chr 1:272,180,498...272,212,478
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UBA5 |
ubiquitin like modifier activating enzyme 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 PMID:33811063 More...
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NCBI chr13:73,831,485...73,859,781
Ensembl chr13:73,822,920...73,868,423
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UBA7 |
ubiquitin like modifier activating enzyme 7 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 |
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NCBI chr13:32,330,536...32,341,300
Ensembl chr13:32,332,367...32,341,217
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G |
UCK1 |
uridine-cytidine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:271,448,362...271,453,811
Ensembl chr 1:271,448,365...271,453,816
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UCKL1 |
uridine-cytidine kinase 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:62,785,419...62,796,396
Ensembl chr17:62,785,422...62,796,378
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G |
URM1 |
ubiquitin related modifier 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 PMID:31332438 PMID:33206935 PMID:34172529 More...
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NCBI chr 1:268,798,439...268,815,553
Ensembl chr 1:268,798,462...268,815,530
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UROD |
uroporphyrinogen decarboxylase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:166,327,243...166,330,558
Ensembl chr 6:166,327,247...166,330,614
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G |
USB1 |
U6 snRNA biogenesis phosphodiesterase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:19,852,020...19,874,016
Ensembl chr 6:19,852,014...19,874,020
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USP20 |
ubiquitin specific peptidase 20 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:269,995,532...270,037,499
Ensembl chr 1:269,995,520...270,086,780
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G |
YTHDF1 |
YTH N6-methyladenosine RNA binding protein F1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:62,329,302...62,341,312
Ensembl chr17:62,329,302...62,341,413
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G |
ZBTB34 |
zinc finger and BTB domain containing 34 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 1:267,436,988...267,465,619
Ensembl chr 1:267,436,990...267,465,619
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G |
ZBTB43 |
zinc finger and BTB domain containing 43 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 1:267,391,575...267,410,947
Ensembl chr 1:267,391,621...267,413,599
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G |
ZBTB46 |
zinc finger and BTB domain containing 46 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr17:62,659,779...62,715,221
Ensembl chr17:62,659,786...62,709,235
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G |
ZDHHC12 |
zinc finger DHHC-type palmitoyltransferase 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:269,081,274...269,084,853
Ensembl chr 1:269,081,272...269,084,840
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G |
ZER1 |
zyg-11 related cell cycle regulator |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:269,088,696...269,121,895
Ensembl chr 1:269,090,159...269,108,256
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ZGPAT |
zinc finger CCCH-type and G-patch domain containing |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059 More...
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NCBI chr17:62,640,988...62,652,478
Ensembl chr17:62,635,018...62,652,483
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G |
ZMYND10 |
zinc finger MYND-type containing 10 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24358150 PMID:28492532 PMID:30410802 |
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NCBI chr13:32,825,398...32,830,037
Ensembl chr13:32,825,374...32,830,049
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G |
ZNF131 |
zinc finger protein 131 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:27,813,974...27,846,872
Ensembl chr16:27,813,997...27,846,942
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G |
ZNF319 |
zinc finger protein 319 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr 6:19,845,190...19,865,842
Ensembl chr 6:19,842,585...19,851,288
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G |
ZNF512B |
zinc finger protein 512B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 |
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NCBI chr17:62,796,583...62,807,340
Ensembl chr17:62,796,585...62,807,091
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G |
ZNF79 |
zinc finger protein 79 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 PMID:26865513 PMID:28492532 PMID:29264391 More...
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NCBI chr 1:267,941,953...267,959,754
Ensembl chr 1:267,942,101...267,966,192
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G |
ZSWIM5 |
zinc finger SWIM-type containing 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:166,138,127...166,326,002
Ensembl chr 6:166,138,170...166,325,988
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G |
AKAP4 |
A-kinase anchoring protein 4 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,885,584...43,895,142
Ensembl chr X:43,885,394...43,895,981
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G |
ARAF |
A-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,078,202...42,090,250
Ensembl chr X:42,078,206...42,090,250
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G |
BMP15 |
bone morphogenetic protein 15 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:44,613,122...44,620,575
Ensembl chr X:44,613,122...44,620,575
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G |
CACNA1F |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,250,449...43,284,458
Ensembl chr X:43,251,370...43,283,990
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G |
CCDC120 |
coiled-coil domain containing 120 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,128,938...43,146,777
Ensembl chr X:43,134,275...43,146,775
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G |
CCDC22 |
coiled-coil domain containing 22 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,285,232...43,303,865
Ensembl chr X:43,285,246...43,303,864
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G |
CCNB3 |
cyclin B3 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,922,729...43,988,939
Ensembl chr X:43,922,804...43,990,929
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G |
CDK16 |
cyclin dependent kinase 16 |
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ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:41,836,268...41,848,580
Ensembl chr X:41,835,987...41,848,574
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G |
CFP |
complement factor properdin |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,145,754...42,152,879
Ensembl chr X:42,143,697...42,152,868
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G |
CFP |
complement factor properdin |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,157,980...42,174,964
Ensembl chr X:42,157,988...42,174,951
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G |
CLCN5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,779,016...43,809,472
Ensembl chr X:43,613,628...43,811,526
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G |
DGKK |
diacylglycerol kinase kappa |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:44,001,172...44,180,142
Ensembl chr X:44,001,176...44,180,179
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G |
EBP |
EBP cholestenol delta-isomerase |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,670,592...42,678,571
Ensembl chr X:42,670,633...42,678,570
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G |
ERAS |
ES cell expressed Ras |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,942,033...42,946,715
Ensembl chr X:42,941,664...42,946,524
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G |
FOXP3 |
forkhead box P3 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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G |
FTSJ1 |
FtsJ RNA 2'-O-methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,609,560...42,620,198
Ensembl chr X:42,609,771...42,620,284
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G |
GATA1 |
GATA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,898,431...42,905,939
Ensembl chr X:42,898,442...42,905,976
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G |
GLOD5 |
glyoxalase domain containing 5 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,877,034...42,889,285
Ensembl chr X:42,877,140...42,889,271
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G |
GPKOW |
G-patch domain and KOW motifs |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,177,264...43,192,021
Ensembl chr X:43,177,272...43,191,830
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G |
GRIPAP1 |
GRIP1 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,043,613...43,070,363
Ensembl chr X:43,043,029...43,070,364
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G |
HDAC6 |
histone deacetylase 6 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,917,911...42,941,894
Ensembl chr X:42,917,964...42,941,887
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G |
KCND1 |
potassium voltage-gated channel subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,032,355...43,043,310
Ensembl chr X:43,032,358...43,041,760
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G |
LOC100513450 |
P antigen family member 4 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,489,559...43,496,654
Ensembl chr X:43,446,109...43,494,094
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G |
MAGIX |
MAGI family member, X-linked |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,206,680...43,212,889
Ensembl chr X:43,207,062...43,211,635
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G |
MIR532 |
microRNA mir-532 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,705,258...43,705,337
Ensembl chr X:43,705,258...43,705,337
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G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:41,770,929...41,773,879
Ensembl chr X:41,770,941...41,774,245
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G |
NUDT11 |
nudix hydrolase 11 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:44,912,160...44,918,977
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G |
OTUD5 |
OTU deubiquitinase 5 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,001,491...43,029,471
Ensembl chr X:43,000,231...43,029,468
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G |
PCSK1N |
proprotein convertase subtilisin/kexin type 1 inhibitor |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,947,688...42,952,222
Ensembl chr X:42,947,692...42,949,024
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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 |
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NCBI chr X:42,993,547...42,998,575
Ensembl chr X:42,993,551...42,998,573
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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:43,215,372...43,218,318
Ensembl chr X:43,215,283...43,218,316
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G |
PORCN |
porcupine O-acyltransferase |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,653,696...42,669,526
Ensembl chr X:42,653,789...42,669,517
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G |
PPP1R3F |
protein phosphatase 1 regulatory subunit 3F |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,328,199...43,344,503
Ensembl chr X:43,328,274...43,344,013
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G |
PQBP1 |
polyglutamine binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,976,086...42,981,732
Ensembl chr X:42,975,413...42,981,724
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G |
PRAF2 |
PRA1 domain family member 2 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,147,473...43,150,350
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G |
PRICKLE3 |
prickle planar cell polarity protein 3 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,218,271...43,230,368
Ensembl chr X:43,218,277...43,230,367
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G |
RBM10 |
RNA binding motif protein 10 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:41,773,232...41,803,656
Ensembl chr X:41,773,232...41,803,653
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G |
RBM3 |
RNA binding motif protein 3 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,704,019...42,707,587
Ensembl chr X:42,704,028...42,707,577
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G |
SHROOM4 |
shroom family member 4 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:44,301,956...44,543,969
Ensembl chr X:44,332,620...44,543,337
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G |
SLC35A2 |
solute carrier family 35 member A2 |
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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:42,981,801...42,992,091
Ensembl chr X:42,981,802...42,992,081
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G |
SLC38A5 |
solute carrier family 38 member 5 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,590,608...42,601,537
Ensembl chr X:42,590,607...42,601,502
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G |
SPACA5 |
sperm acrosome associated 5 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,476,719...42,478,783
Ensembl chr X:42,476,587...42,478,921
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G |
SUV39H1 |
SUV39H1 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,797,309...42,811,457
Ensembl chr X:42,797,828...42,811,461
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G |
SYN1 |
synapsin I |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,090,245...42,142,254
Ensembl chr X:42,090,246...42,142,224
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G |
SYP |
synaptophysin |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,232,190...43,246,764
Ensembl chr X:43,232,192...43,246,680
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G |
TBC1D25 |
TBC1 domain family member 25 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,682,267...42,696,579
Ensembl chr X:42,682,269...42,696,574
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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:43,100,375...43,116,377
Ensembl chr X:43,100,032...43,116,227
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G |
TIMM17B |
translocase of inner mitochondrial membrane 17B |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,970,586...42,976,287
Ensembl chr X:42,970,108...42,975,955
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G |
TIMP1 |
TIMP metallopeptidase inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,103,251...42,106,289
Ensembl chr X:42,102,172...42,106,296
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G |
UBA1 |
ubiquitin like modifier activating enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:41,810,726...41,832,818
Ensembl chr X:41,814,101...41,832,812
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G |
USP11 |
ubiquitin specific peptidase 11 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:41,851,534...41,866,357
Ensembl chr X:41,851,602...41,866,355
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G |
USP27X |
ubiquitin specific peptidase 27 X-linked |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,553,454...43,557,247
Ensembl chr X:43,555,005...43,556,321
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G |
UXT |
ubiquitously expressed prefoldin like chaperone |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,176,142...42,184,131
Ensembl chr X:42,176,145...42,184,079
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G |
WAS |
WASP actin nucleation promoting factor |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,774,597...42,793,055
Ensembl chr X:42,774,588...42,793,055
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G |
WDR13 |
WD repeat domain 13 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,715,097...42,730,200
Ensembl chr X:42,722,730...42,730,199
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G |
WDR45 |
WD repeat domain 45 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
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NCBI chr X:43,150,691...43,155,981
Ensembl chr X:43,147,477...43,156,234
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G |
ZNF157 |
zinc finger protein 157 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:41,905,319...41,921,484
Ensembl chr X:41,905,226...41,920,880
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G |
ZNF182 |
zinc finger protein 182 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:42,444,227...42,473,308
Ensembl chr X:42,444,230...42,473,285
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G |
ZNF41 |
zinc finger protein 41 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:41,931,036...41,984,439
Ensembl chr X:41,934,977...41,984,595
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G |
ZNF630 |
zinc finger protein 630 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,518,203...42,540,677
Ensembl chr X:42,518,211...42,540,232
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G |
ZNF81 |
zinc finger protein 81 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 |
ClinVar |
PMID:28492532 |
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NCBI chr X:42,246,548...42,372,191
Ensembl chr X:42,246,751...42,468,024
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G |
ABCA3 |
ATP binding cassette subfamily A member 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 chr 3:39,689,133...39,732,466
Ensembl chr 3:39,698,895...39,732,978
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G |
ALDH7A1 |
aldehyde dehydrogenase 7 family member A1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:23953072 PMID:25741868 PMID:28492532 |
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NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,969...129,709,705
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G |
ALG13 |
ALG13 UDP-N-acetylglucosaminyltransferase subunit |
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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 X:91,644,586...91,708,695
Ensembl chr X:91,650,858...91,708,689
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G |
AMDHD2 |
amidohydrolase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:39,523,076...39,532,590
Ensembl chr 3:39,522,163...39,532,995
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G |
ARHGEF9 |
Cdc42 guanine nucleotide exchange factor 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:35638461 |
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NCBI chr X:50,159,912...50,578,020
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G |
ARX |
aristaless related homeobox |
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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 |
OMIM ClinVar |
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12177367 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12379852 PMID:12640086 PMID:12874418 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15726411 PMID:15850492 PMID:16078051 PMID:16199547 PMID:16235064 PMID:16523516 PMID:16995578 PMID:17331656 PMID:17480217 PMID:17490853 PMID:17576681 PMID:17641262 PMID:17664401 PMID:17668384 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19507262 PMID:19605412 PMID:19606478 PMID:19738637 PMID:20148114 PMID:20300201 PMID:20506206 PMID:21108397 PMID:21204215 PMID:21204226 PMID:21496008 PMID:22252899 PMID:22922607 PMID:23039062 PMID:23246292 PMID:23757202 PMID:24643514 PMID:24781210 PMID:25741868 PMID:26029707 PMID:26337422 PMID:26467025 PMID:27864847 PMID:28174645 PMID:28387369 PMID:28492532 PMID:29152528 PMID:29778428 PMID:30108342 PMID:30255221 PMID:30552426 PMID:31145546 PMID:31324350 PMID:31623504 PMID:31691806 PMID:31791873 PMID:32139178 PMID:32313153 PMID:32383243 PMID:32613771 PMID:33951346 PMID:34992632 PMID:35121198 More...
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NCBI chr X:21,067,631...21,079,850
Ensembl chr X:21,067,621...21,079,723
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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 chr 6:7,209,512...7,223,195
Ensembl chr 6:7,208,158...7,223,155
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G |
ATP6V0C |
ATPase H+ transporting V0 subunit c |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:39,532,707...39,538,704
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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 chr 6:7,008,330...7,054,089
Ensembl chr 6:7,012,332...7,055,305
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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 |
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NCBI chr 3:39,153,521...39,161,415
Ensembl chr 3:39,153,552...39,161,442
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G |
BRICD5 |
BRICHOS domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr 3:39,780,707...39,782,478
Ensembl chr 3:39,780,940...39,782,466
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G |
C6H16orf46 |
chromosome 6 C16orf46 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
|
NCBI chr 6:7,189,026...7,208,669
Ensembl chr 6:7,189,556...7,207,357
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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 |
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NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
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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 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492
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G |
CASKIN1 |
CASK interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr 3:39,794,400...39,811,381
Ensembl chr 3:39,794,293...39,811,009
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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 chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079
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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:14,858,826...15,096,969
Ensembl chr X:14,952,225...15,078,855
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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 chr 6:7,420,477...7,707,446
Ensembl chr 6:7,420,790...7,604,947
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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 chr 6:7,227,981...7,254,927
Ensembl chr 6:7,227,990...7,254,891
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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 chr15:46,470,680...46,612,173
Ensembl chr15:46,470,765...46,490,006
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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 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938
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G |
CLDN6 |
claudin 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:39,168,506...39,172,631
Ensembl chr 3:39,167,853...39,172,628
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G |
CLDN9 |
claudin 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:39,172,731...39,181,827
Ensembl chr 3:39,172,853...39,174,354
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G |
CMC2 |
C-X9-C motif containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr 6:7,254,937...7,278,714
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G |
CMIP |
c-Maf inducing protein |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr 6:6,653,237...6,881,874
Ensembl chr 6:6,654,411...6,881,813
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G |
CSNK1E |
casein kinase 1 epsilon |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
|
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NCBI chr 5:9,594,461...9,620,483
Ensembl chr 5:9,594,934...9,620,476
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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 chr 3:39,757,725...39,761,497
Ensembl chr 3:39,757,296...39,761,080
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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 1:268,653,045...268,702,233
Ensembl chr 1:268,653,070...268,702,222
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G |
DYNLRB2 |
dynein light chain roadblock-type 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr 6:7,650,444...7,661,380
Ensembl chr 6:7,649,699...7,661,308
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G |
E4F1 |
E4F transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr 3:39,757,679...39,773,024
Ensembl chr 3:39,761,356...39,772,262
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G |
ECI1 |
enoyl-CoA delta isomerase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr 3:39,750,742...39,758,516
Ensembl chr 3:39,750,742...39,758,516
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G |
ELOB |
elongin B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:39,294,099...39,298,192
Ensembl chr 3:39,293,746...39,298,097
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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 |
|
NCBI chr 3:40,190,545...40,193,994
Ensembl chr 3:40,186,846...40,193,957
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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 chr14:121,538,308...121,539,037
Ensembl chr 3:40,141,132...40,141,806
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G |
FLYWCH1 |
FLYWCH-type zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:39,223,885...39,244,743
Ensembl chr 3:39,225,365...39,242,675
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G |
FLYWCH2 |
FLYWCH family member 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:39,251,487...39,261,937
Ensembl chr 3:39,251,491...39,255,803
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|
G |
GABRB3 |
gamma-aminobutyric acid type A receptor subunit beta3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,540...140,905,623
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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 chr 6:6,921,446...6,989,670
Ensembl chr 6:6,933,503...6,989,653
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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 chr 6:7,171,186...7,184,732
Ensembl chr 6:7,171,192...7,184,729
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G |
GFER |
growth factor, augmenter of liver regeneration |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr 3:39,981,938...39,984,451
Ensembl chr 3:39,981,940...39,984,991
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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 |
|
NCBI chr 6:29,416,574...29,592,874
Ensembl chr 6:29,417,603...29,592,706
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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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|
G |
HAGH |
hydroxyacylglutathione hydrolase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr 3:40,139,099...40,162,921
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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 chr 3:39,164,375...39,166,051
Ensembl chr 3:39,164,375...39,166,049
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|
G |
HCN1 |
hyperpolarization activated cyclic nucleotide gated potassium channel 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24747641 |
|
NCBI chr16:29,439,294...29,808,855
Ensembl chr16:29,439,264...29,808,993
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|
G |
HNRNPU |
heterogeneous nuclear ribonucleoprotein U |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
|
|
NCBI chr10:17,475,266...17,497,060
Ensembl chr10:17,477,902...17,497,030
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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 chr 3:40,029,927...40,038,803
Ensembl chr 3:40,032,464...40,038,870
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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 chr 3:40,173,595...40,177,789
Ensembl chr 3:40,174,764...40,177,784
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G |
ITPA |
inosine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:26224535 PMID:28492532 |
|
NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784
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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 4:109,534,923...109,570,172
Ensembl chr 4:109,557,973...109,560,998
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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 chr17:62,459,277...62,506,403
Ensembl chr17:62,459,281...62,506,424
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|
G |
KCTD5 |
potassium channel tetramerization domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:39,403,985...39,429,608
Ensembl chr 3:39,403,987...39,429,588
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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 chr 3:39,214,251...39,218,805
Ensembl chr 3:39,214,248...39,218,776
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G |
MAF |
MAF bZIP transcription factor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24369382 PMID:24456803 PMID:25411445 PMID:25741868 PMID:26467025 PMID:27959697 PMID:28492532 PMID:29358611 PMID:29390993 PMID:30356099 PMID:31130284 PMID:31780880 PMID:31957018 More...
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NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,413...8,485,030
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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 chr 3:40,092,689...40,133,173
Ensembl chr 3:40,092,732...40,133,171
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|
G |
MLST8 |
MTOR associated protein, LST8 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr 3:39,778,746...39,786,206
Ensembl chr 3:39,778,754...39,788,285
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|
G |
MMP25 |
matrix metallopeptidase 25 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:39,129,452...39,143,621
Ensembl chr 3:39,130,777...39,142,303
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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 chr 3:40,194,078...40,195,316
Ensembl chr 3:40,193,033...40,195,018
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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 chr 3:40,017,161...40,021,736
Ensembl chr 3:40,017,194...40,028,047
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G |
NAPB |
NSF attachment protein beta |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:33189936 |
|
NCBI chr17:30,361,439...30,396,105
Ensembl chr17:30,359,420...30,396,083
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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 chr 3:40,003,109...40,005,650
Ensembl chr 3:40,003,115...40,005,588
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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 chr 3:39,942,366...39,952,824
Ensembl chr 3:39,942,367...39,952,825
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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 chr 3:39,987,340...39,989,640
Ensembl chr 3:39,987,384...39,989,548
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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 chr 3:39,957,042...39,957,792
Ensembl chr 3:39,957,042...39,957,792
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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 2:7,454,771...7,554,180
Ensembl chr 2:7,478,750...7,515,943
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G |
NTHL1 |
nth like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr 3:39,935,619...39,941,718
Ensembl chr 3:39,935,475...39,941,712
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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 chr 3:39,572,430...39,575,717
Ensembl chr 3:39,572,531...39,575,170
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G |
NUBP2 |
NUBP iron-sulfur cluster assembly factor 2, cytosolic |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr 3:40,178,417...40,184,646
Ensembl chr 3:40,178,417...40,186,551
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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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|
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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 chr 3:39,206,077...39,213,324
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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:82,031,365...82,153,159
Ensembl chr X:82,036,199...82,151,652
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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:20,605,769...20,743,081
Ensembl chr X:20,605,945...20,743,134
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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:20,486,205...20,598,492
Ensembl chr X:20,486,341...20,602,664
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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 chr 3:39,429,928...39,512,623
Ensembl chr 3:39,432,058...39,512,601
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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 chr 3:39,776,815...39,779,669
Ensembl chr 3:39,762,608...39,778,011
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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 chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
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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 chr 6:7,065,143...7,166,620
Ensembl chr 6:7,066,912...7,166,458
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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 chr 3:39,201,819...39,209,261
Ensembl chr 3:39,201,878...39,210,125
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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 chr17:17,007,197...17,745,314
Ensembl chr17:17,007,261...17,745,313
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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 chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060
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G |
POLA1 |
DNA polymerase alpha 1, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
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NCBI chr X:20,756,674...21,064,265
Ensembl chr X:20,756,725...21,062,175
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G |
PRSS21 |
serine protease 21 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:39,318,134...39,322,775
Ensembl chr 3:39,317,717...39,323,150
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G |
PRSS22 |
serine protease 22 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:39,365,798...39,376,909
Ensembl chr 3:39,365,803...39,380,476
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G |
PRSS27 |
serine protease 27 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:39,395,014...39,399,971
Ensembl chr 3:39,395,274...39,399,970
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G |
PRSS33 |
serine protease 33 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:39,301,919...39,304,996
Ensembl chr 3:39,302,369...39,307,433
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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 chr 3:39,831,981...39,837,510
Ensembl chr 3:39,831,981...39,837,515
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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:13,413,362...13,658,907
Ensembl chr X:13,412,838...13,658,902
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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 chr 3:39,997,651...40,000,782
Ensembl chr 3:39,997,647...39,999,748
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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 chr 3:39,739,058...39,749,600
Ensembl chr 3:39,739,308...39,750,005
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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 chr 3:40,004,907...40,016,702
Ensembl chr 3:40,007,868...40,016,699
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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 chr 3:39,996,179...40,003,110
Ensembl chr 3:40,001,326...40,003,107
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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:15,080,972...15,099,426
Ensembl chr X:15,085,050...15,109,243
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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 chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066
|
|
G |
SCN8A |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
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|
G |
SLC25A12 |
solute carrier family 25 member 12 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,938...78,098,383
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G |
SPSB3 |
splA/ryanodine receptor domain and SOCS box containing 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr 3:40,184,534...40,190,519
Ensembl chr 3:40,185,014...40,190,518
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|
G |
SRRM2 |
serine/arginine repetitive matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:39,275,274...39,293,741
Ensembl chr 3:39,275,288...39,293,747
|
|
G |
ST3GAL3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:167,363,348...167,596,892
Ensembl chr 6:167,363,347...167,595,835
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|
G |
SYNGR3 |
synaptogyrin 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr 3:39,975,067...39,981,537
Ensembl chr 3:39,975,069...39,979,217
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G |
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 chr13:196,230,101...196,330,512
Ensembl chr13:196,230,104...196,330,384
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G |
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 6:167,811,589...167,861,321
Ensembl chr 6:167,811,598...167,861,583
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G |
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:31112829 PMID:31216405 PMID:31257402 PMID:31618474 PMID:31780880 PMID:31922275 PMID:32004315 PMID:32369273 PMID:32581362 PMID:32860223 PMID:33063868 PMID:33229591 PMID:33281559 PMID:33333793 PMID:33619735 PMID:33726816 PMID:33986365 PMID:34020146 PMID:34852372 PMID:35350397 PMID:36413997 More...
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NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
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G |
TBL3 |
transducin beta like 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr 3:39,989,739...39,996,138
Ensembl chr 3:39,989,740...39,995,123
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G |
TE |