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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:early infantile epileptic encephalopathy
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Accession:DOID:0050709 term browser browse the term
Definition:A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO)
Synonyms:exact_synonym: DEVELOPMENTAL ENCEPHALOPATHY WITH EPILEPSY;   early infantile epileptic encephalopathy with burst-suppression
 alt_id: DOID:2481
 xref: EFO:1000643;   GARD:9255;   NCI:C122814;   ORDO:1934



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early infantile epileptic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16b abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr 3:168,594,677...168,596,574
Ensembl chr 3:168,594,609...168,619,762
JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
JBrowse link
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
JBrowse link
G Adgrg3 adhesion G protein-coupled receptor G3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,972,425...10,001,118
Ensembl chr19:9,972,430...10,001,123
JBrowse link
G Adgrg5 adhesion G protein-coupled receptor G5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,074,787...10,098,640
Ensembl chr19:10,079,375...10,097,214
JBrowse link
G Adrm1 ADRM1 26S proteasome ubiquitin receptor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,265,435...167,270,197
Ensembl chr 3:167,265,296...167,270,195
JBrowse link
G Aif1l allograft inflammatory factor 1-like ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:15,229,476...15,254,033
Ensembl chr 3:15,229,524...15,254,023
JBrowse link
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:12,028,895...12,144,468
Ensembl chr 3:12,028,954...12,144,465
JBrowse link
G Akr1a1 aldo-keto reductase family 1 member A1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,092,945...130,130,277
Ensembl chr 5:130,092,732...130,113,674
JBrowse link
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247
JBrowse link
G Amigo3 adhesion molecule with Ig like domain 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555
JBrowse link
G Angptl2 angiopoietin-like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,517,185...16,547,024
Ensembl chr 3:16,517,420...16,548,178
JBrowse link
G Ano4 anoctamin 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 7:23,329,015...23,738,423
Ensembl chr 7:23,329,070...23,738,434
JBrowse link
G Ano9 anoctamin 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,208,863...196,230,381
Ensembl chr 1:196,197,341...196,229,900
JBrowse link
G Ap2a2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,652,315...196,725,609
Ensembl chr 1:196,652,337...196,725,603
JBrowse link
G Apeh acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,773,791...108,782,903
Ensembl chr 8:108,773,794...108,782,933
JBrowse link
G Arfgap1 ADP-ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933
JBrowse link
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:25741868 More... NCBI chr10:53,650,521...53,663,269
Ensembl chr10:53,650,553...53,663,913
JBrowse link
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
JBrowse link
G Armh1 armadillo-like helical domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,680,955...130,722,062
Ensembl chr 5:130,682,485...130,722,062
JBrowse link
G Art1 ADP-ribosyltransferase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:156,478,096...156,487,172
Ensembl chr 1:156,482,621...156,487,172
JBrowse link
G Art5 ADP-ribosyltransferase 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:156,473,362...156,483,324
Ensembl chr 1:156,473,362...156,483,324
JBrowse link
G Artn artemin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
JBrowse link
G Arx aristaless related homeobox ISS OMIM:300088 | OMIM:300607 | OMIM:300672 | OMIM:308350 | OMIM:609304 | OMIM:612164 | OMIM:613402 | OMIM:613477 | OMIM:613720 | OMIM:613721 | OMIM:613722 | OMIM:614558 | OMIM:614959 | OMIM:615006 | OMIM:615338 | OMIM:615473 | OMIM:615476 MouseDO NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Asb6 ankyrin repeat and SOCS box-containing 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,110,628...14,115,274
Ensembl chr 3:14,110,628...14,115,242
JBrowse link
G Ascl2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,148,999...198,151,406
Ensembl chr 1:198,148,999...198,151,406
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
JBrowse link
G Atp6v0b ATPase H+ transporting V0 subunit B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 5:131,423,384...131,424,900
Ensembl chr 5:131,423,387...131,426,401
JBrowse link
G B4galnt4 beta-1,4-N-acetyl-galactosaminyl transferase 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,171,394...196,182,294
Ensembl chr 1:196,171,394...196,182,294
JBrowse link
G B4galt2 beta-1,4-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 5:131,412,541...131,422,573
Ensembl chr 5:131,412,541...131,421,013
JBrowse link
G Barhl1 BarH-like homeobox 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649
JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,674,577...15,677,322
Ensembl chr 3:15,674,580...15,677,374
JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
JBrowse link
G Best4 bestrophin 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,622,194...130,629,045
Ensembl chr 5:130,623,438...130,627,099
JBrowse link
G Bhlhe23 basic helix-loop-helix family, member e23 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,889,009...167,891,223
Ensembl chr 3:167,889,009...167,891,223
JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:197,035,505...197,088,624
Ensembl chr 1:197,035,633...197,088,092
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Bsn bassoon (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,784,849...108,875,819
Ensembl chr 8:108,788,542...108,875,819
JBrowse link
G Btbd19 BTB domain containing 19 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,596,966...130,605,403
Ensembl chr 5:130,597,684...130,604,335
JBrowse link
G C2h5orf34 similar to human chromosome 5 open reading frame 34 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:51,553,223...51,577,090
Ensembl chr 2:51,555,432...51,577,085
JBrowse link
G C3h9orf50 similar to human chromosome 9 open reading frame 50 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,076,679...14,087,036
Ensembl chr 3:14,080,744...14,086,978
JBrowse link
G C3h9orf78 similar to human chromosome 9 open reading frame 78 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,264,262...14,272,552
Ensembl chr 3:14,264,083...14,272,764
JBrowse link
G C8h3orf18 similar to human chromosome 3 open reading frame 18 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,012,638...108,022,050
Ensembl chr 8:108,012,638...108,022,461
JBrowse link
G Cables2 Cdk5 and Abl enzyme substrate 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,347,527...167,362,274
Ensembl chr 3:167,347,461...167,362,279
JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:17660294 PMID:23934111 PMID:25741868 PMID:26680202 PMID:28135719 More... NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 More... NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
JBrowse link
G Camkv CaM kinase-like vesicle-associated ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169
JBrowse link
G Cars1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,753,689...198,796,016
Ensembl chr 1:198,753,691...198,795,941
JBrowse link
G Ccdc102a coiled-coil domain containing 102A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,102,543...10,118,657
Ensembl chr19:10,103,361...10,118,657
JBrowse link
G Ccdc113 coiled-coil domain containing 113 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,497,000...9,516,917
Ensembl chr19:9,496,886...9,516,923
JBrowse link
G Ccdc152 coiled-coil domain containing 152 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:52,507,987...52,532,880
Ensembl chr 2:52,507,981...52,532,826
JBrowse link
G Ccdc17 coiled-coil domain containing 17 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,051,158...130,056,676
Ensembl chr 5:130,045,938...130,056,673
JBrowse link
G Ccdc24 coiled-coil domain containing 24 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 5:131,398,766...131,412,395
Ensembl chr 5:131,408,143...131,412,029
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
JBrowse link
G Ccl28 C-C motif chemokine ligand 28 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997
JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753
JBrowse link
G Cd81 Cd81 molecule ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
JBrowse link
G Cdhr4 cadherin-related family member 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,682,594...108,690,358
Ensembl chr 8:108,682,613...108,690,367
JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 PMID:32366967 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302
JBrowse link
G Cercam cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:13,118,150...13,155,960
Ensembl chr 3:13,142,107...13,155,956
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:16,066,521...16,073,495
JBrowse link
G Cfap20 cilia and flagella associated protein 20 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,608,867...9,622,558
Ensembl chr19:9,608,859...9,622,558
JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:12,258,453...12,381,319
Ensembl chr 3:12,258,453...12,381,319
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,594,357...196,629,700
Ensembl chr 1:196,587,509...196,629,606
JBrowse link
G Chrna10 cholinergic receptor nicotinic alpha 10 subunit ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:156,487,279...156,494,277
Ensembl chr 1:156,487,279...156,491,476
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9425895 PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 More... NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
JBrowse link
G Ciapin1 cytokine induced apoptosis inhibitor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,179,963...10,195,511
Ensembl chr19:10,180,100...10,195,503
JBrowse link
G Cish cytokine inducible SH2-containing protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:107,972,306...107,977,254
Ensembl chr 8:107,972,306...107,977,250
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762
JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173
JBrowse link
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574
JBrowse link
G Col20a1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799
JBrowse link
G Coq9 coenzyme Q9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
JBrowse link
G Cpne2 copine 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,434,277...10,472,146
Ensembl chr19:10,434,277...10,471,820
JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,558,407...196,563,961
Ensembl chr 1:196,558,588...196,563,771
JBrowse link
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080
JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Cyb561d2 cytochrome b561 family, member D2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chr 8:108,213,201...108,215,778
Ensembl chr 8:108,213,205...108,215,759
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:12,172,829...12,238,392
Ensembl chr 3:12,172,836...12,238,873
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
JBrowse link
G Dido1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
JBrowse link
G Dmap1 DNA methyltransferase 1-associated protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:131,143,726...131,151,760
Ensembl chr 5:131,143,729...131,151,742
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
JBrowse link
G Dok4 docking protein 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,146,520...10,157,187
Ensembl chr19:10,146,474...10,158,203
JBrowse link
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917
JBrowse link
G Dolpp1 dolichyldiphosphatase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,666,000...13,674,312
Ensembl chr 3:13,665,823...13,674,311
JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,855,952...15,858,867
Ensembl chr 3:15,856,182...15,869,165
Ensembl chr 3:15,856,182...15,869,165
JBrowse link
G Drc7 dynein regulatory complex subunit 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,943,452...9,961,266
Ensembl chr19:9,943,456...9,961,163
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:197,167,392...197,184,285
Ensembl chr 1:197,169,422...197,182,921
JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22722545 PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 More... NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121
JBrowse link
G Dynlt4 dynein light chain Tctex-type 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,605,437...130,607,224
Ensembl chr 5:130,605,399...130,607,666
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Eeig1 estrogen-induced osteoclastogenesis regulator 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,822,441...15,854,651
Ensembl chr 3:15,823,144...15,854,643
JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:130,492,220...130,563,332
JBrowse link
G Endog endonuclease G ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,449,113...13,451,715
Ensembl chr 3:13,449,086...13,451,932
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541
JBrowse link
G Eri3 ERI1 exoribonuclease family member 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:131,016,146...131,143,347
Ensembl chr 5:131,016,126...131,143,329
JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,962,930...14,973,645
Ensembl chr 3:14,962,917...14,973,575
JBrowse link
G Fam78a family with sequence similarity 78, member A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:15,355,958...15,376,330
Ensembl chr 3:15,355,955...15,373,812
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
G Fibcd1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:15,092,682...15,126,371
Ensembl chr 3:15,092,681...15,126,399
JBrowse link
G Fnbp1 formin binding protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,309,067...14,424,378
Ensembl chr 3:14,309,640...14,424,881
JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
JBrowse link
G Fubp3 far upstream element binding protein 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,855,527...14,904,540
Ensembl chr 3:14,855,557...14,904,540
JBrowse link
G Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 PMID:29422393 NCBI chr14:37,097,251...37,230,030
Ensembl chr14:37,097,279...37,228,944
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
JBrowse link
G Garnl3 GTPase activating Rap/RanGAP domain-like 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,288,718...16,432,308
Ensembl chr 3:16,288,719...16,430,837
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Gid8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,826,006...167,836,759
Ensembl chr 3:167,826,060...167,834,814
JBrowse link
G Gins3 GINS complex subunit 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,420,085...9,428,621
Ensembl chr19:9,420,086...9,428,687
JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy
ClinVar PMID:8521505 PMID:9108480 PMID:9536098 PMID:10419452 PMID:10615050 More... NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
JBrowse link
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,583,862...15,604,279
Ensembl chr 3:15,584,039...15,604,279
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO
ISS
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar
MouseDO
PMID:11285252 PMID:20177705 PMID:24608809 PMID:25741868 PMID:26518167 More... NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
JBrowse link
G Gpbp1l1 GC-rich promoter binding protein 1-like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,009,768...130,050,636
Ensembl chr 5:130,023,137...130,050,459
JBrowse link
G Gpr107 G protein-coupled receptor 107 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,431,704...14,497,623
Ensembl chr 3:14,434,723...14,495,958
JBrowse link
G Gtf3c4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:12,154,803...12,172,795
Ensembl chr 3:12,154,805...12,172,725
JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:11,893,867...11,914,187
Ensembl chr 3:11,893,875...11,914,180
JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:17931874 PMID:20437590 PMID:22131395 More... NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774
JBrowse link
G Hectd3 HECT domain E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,469,840...130,479,802
Ensembl chr 5:130,469,840...130,478,561
JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159
JBrowse link
G Hemk1 HemK methyltransferase family member 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:107,999,658...108,010,732
Ensembl chr 8:107,999,644...108,010,256
JBrowse link
G Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,598,411...10,609,002
Ensembl chr19:10,598,417...10,618,424
JBrowse link
G Hmcn2 hemicentin 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,588,353...14,738,320
Ensembl chr 3:14,588,662...14,738,025
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100
JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210
JBrowse link
G Hyal2 hyaluronidase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,241,895...108,246,853
Ensembl chr 8:108,243,133...108,246,850
JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647
JBrowse link
G Ier5l immediate early response 5-like ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,744,056...13,745,647
Ensembl chr 3:13,744,078...13,745,647
JBrowse link
G Ifitm1 interferon induced transmembrane protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169
JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:197,507,501...197,524,180
Ensembl chr 1:197,507,503...197,525,151
JBrowse link
G Ifitm2 interferon induced transmembrane protein 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,051,539...196,052,719
Ensembl chr 1:196,051,537...196,052,741
JBrowse link
G Ifitm3 interferon induced transmembrane protein 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,111,026...196,112,135
Ensembl chr 1:196,111,043...196,112,203
JBrowse link
G Ifitm5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232
JBrowse link
G Ifrd2 interferon-related developmental regulator 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194
JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Inka1 inka box actin regulator 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,674,263...108,675,953
Ensembl chr 8:108,674,263...108,675,953
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Ip6k1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,693,068...108,737,278 JBrowse link
G Ipo13 importin 13 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 5:131,433,770...131,454,044
Ensembl chr 5:131,433,776...131,454,043
JBrowse link
G Ipp intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:129,962,528...130,001,237
Ensembl chr 5:129,962,643...130,001,242
JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:26224535 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Katnb1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,921,216...9,940,853
Ensembl chr19:9,921,219...9,940,650
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy ClinVar PMID:25741868 PMID:26477325 PMID:28252636 PMID:28492532 PMID:28806457 More... NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
JBrowse link
G Kcnc2 potassium voltage-gated channel subfamily C member 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar NCBI chr 7:47,700,035...47,883,979
Ensembl chr 7:47,700,288...47,883,968
JBrowse link
G Kcnh5 potassium voltage-gated channel subfamily H member 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:24133262 More... NCBI chr 6:93,615,174...93,908,107
Ensembl chr 6:93,624,529...93,908,107
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy
ClinVar PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Kif2c kinesin family member 2C ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,637,347...130,662,680
Ensembl chr 5:130,637,347...130,662,637
JBrowse link
G Kifc3 kinesin family member C3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,825,114...9,920,371
Ensembl chr19:9,886,693...9,920,451
JBrowse link
G Klf17 KLF transcription factor 17 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:131,293,068...131,315,878
Ensembl chr 5:131,307,476...131,315,084
JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:197,278,886...197,279,893 JBrowse link
G Kyat1 kynurenine aminotransferase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,459,598...13,493,308
Ensembl chr 3:13,459,591...13,493,355
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:15,165,220...15,226,697
Ensembl chr 3:15,165,220...15,226,697
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr 3:168,490,535...168,496,627
Ensembl chr 3:168,490,074...168,493,127
JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
G Lsmem2 leucine-rich single-pass membrane protein 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115
JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416
JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:107,929,754...107,963,638
Ensembl chr 8:107,929,762...107,963,568
JBrowse link
G Mast2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:129,776,293...129,915,502
Ensembl chr 5:129,775,676...129,915,606
JBrowse link
G Mast3 microtubule associated serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 PMID:34185323 NCBI chr16:18,636,764...18,663,852
Ensembl chr16:18,636,787...18,663,852
JBrowse link
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:12,629,593...12,803,340
Ensembl chr 3:12,629,603...12,803,339
JBrowse link
G Miga2 mitoguardin 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,636,235...13,658,895
Ensembl chr 3:13,636,238...13,658,896
JBrowse link
G Mir138-2 microRNA 138-2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,674,193...10,674,274
Ensembl chr19:10,674,193...10,674,274
JBrowse link
G Mir1b microRNA 1b ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,487,117...167,487,201
Ensembl chr 3:167,487,117...167,487,201
JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
JBrowse link
G Mir2964 microRNA 2964 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 3:13,118,623...13,118,722
Ensembl chr 3:13,118,623...13,118,722
JBrowse link
G Mir3582 microRNA 3582 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr18:1,885,063...1,885,180
Ensembl chr18:1,885,063...1,885,180
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
JBrowse link
G Mmp15 matrix metallopeptidase 15 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,663,449...9,684,943
Ensembl chr19:9,663,449...9,684,943
JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:197,092,991...197,149,978
Ensembl chr 1:197,092,994...197,149,933
JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156
JBrowse link
G Mrgbp MRG domain binding protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,697,129...167,700,592
Ensembl chr 3:167,697,185...167,700,592
JBrowse link
G Mrgpre MAS related GPR family member E ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,963,786...198,969,862
Ensembl chr 1:198,963,787...198,969,521
JBrowse link
G Mrgprg MAS related GPR family member G ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,947,648...198,951,556
Ensembl chr 1:198,947,229...198,951,517
JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222
JBrowse link
G Mrps30 mitochondrial ribosomal protein S30 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:50,456,253...50,463,128
Ensembl chr 2:50,456,255...50,463,105
JBrowse link
G Mst1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416
JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
JBrowse link
G Mt1 metallothionein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049
JBrowse link
G Mt1-ps3 metallothionein 1, pseudogene 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr17:74,786,652...74,787,040
Ensembl chr17:74,786,654...74,787,135
JBrowse link
G Mt2A metallothionein 2A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
JBrowse link
G Mt3 metallothionein 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
JBrowse link
G Mt4 metallothionein 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,863,813...10,865,909
Ensembl chr19:10,863,813...10,865,909
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146
JBrowse link
G Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,741,239...15,747,672
Ensembl chr 3:15,742,919...15,747,669
JBrowse link
G Nap1l4 nucleosome assembly protein 1-like 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,709,697...198,746,093
Ensembl chr 1:198,709,701...198,746,020
JBrowse link
G Nasp nuclear autoantigenic sperm protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,057,363...130,083,003
Ensembl chr 5:130,057,363...130,082,928
JBrowse link
G Ncs1 neuronal calcium sensor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,523,220...14,568,829
Ensembl chr 3:14,523,220...14,568,829
JBrowse link
G Ndrg4 NDRG family member 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914
JBrowse link
G Niban2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,174,674...16,224,293
Ensembl chr 3:16,174,659...16,224,293
JBrowse link
G Nkain4 Sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,053,294...168,073,944
Ensembl chr 3:168,053,066...168,073,925
JBrowse link
G Nlrc5 NLR family, CARD domain containing 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121
JBrowse link
G Nnt nicotinamide nucleotide transhydrogenase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:51,411,413...51,505,125
Ensembl chr 2:51,411,413...51,504,823
JBrowse link
G Nprl2 NPR2-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:108,215,814...108,218,996
JBrowse link
G Ntmt1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,093,374...14,110,565
Ensembl chr 3:14,093,977...14,110,663
JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
JBrowse link
G Ntsr1 neurotensin receptor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,606,215...167,656,371
Ensembl chr 3:167,606,215...167,656,377
JBrowse link
G Nudt21 nudix hydrolase 21 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,974,800...10,993,841
Ensembl chr19:10,974,241...10,991,682
JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307
JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
JBrowse link
G Odf2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:13,160,981...13,207,223
Ensembl chr 3:13,161,494...13,206,985
JBrowse link
G Ogfod1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,945,031...10,974,602
Ensembl chr19:10,946,018...10,975,119
JBrowse link
G Ogfr opioid growth factor receptor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,703,173...167,709,459
Ensembl chr 3:167,702,695...167,709,473
JBrowse link
G Osbpl2 oxysterol binding protein-like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,210,945...167,256,219
Ensembl chr 3:167,210,832...167,256,219
JBrowse link
G Osbpl5 oxysterol binding protein-like 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,862,071...198,916,469
Ensembl chr 1:198,862,055...198,916,469
JBrowse link
G Paip1 poly(A) binding protein interacting protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:51,523,190...51,550,241
Ensembl chr 2:51,522,921...51,550,241
JBrowse link
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114
JBrowse link
G Phlda2 pleckstrin homology-like domain, family A, member 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,696,897...198,699,292
Ensembl chr 1:198,696,897...198,697,836
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
JBrowse link
G Phyhd1 phytanoyl-CoA dioxygenase domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,535,670...13,553,797
Ensembl chr 3:13,540,056...13,553,797
JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
JBrowse link
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915 NCBI chr11:33,682,943...33,689,111
Ensembl chr11:33,682,948...33,689,321
JBrowse link
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:129,700,925...129,772,591
Ensembl chr 5:129,701,229...129,772,583
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
JBrowse link
G Pkn3 protein kinase N3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,350,082...13,363,572
Ensembl chr 3:13,335,041...13,363,567
JBrowse link
G Pkp3 plakophilin 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,187,914...196,198,843
Ensembl chr 1:196,187,835...196,198,844
JBrowse link
G Plk3 polo-like kinase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,607,142...130,612,317
Ensembl chr 5:130,607,142...130,612,317
JBrowse link
G Pllp plasmolipin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,315,104...10,335,892
Ensembl chr19:10,315,104...10,335,892
JBrowse link
G Plpp7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:15,384,461...15,398,820
Ensembl chr 3:15,384,492...15,398,883
JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
JBrowse link
G Polr2c RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,158,153...10,164,935
Ensembl chr19:10,157,823...10,164,945
JBrowse link
G Polr2l RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,570,051...196,572,060 JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
JBrowse link
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,928,651...14,943,341
Ensembl chr 3:14,928,628...14,943,331
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856
JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,706,952...168,771,191
Ensembl chr 3:168,704,299...168,774,991
JBrowse link
G Prrc2b proline-rich coiled-coil 2B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:15,433,357...15,519,105
Ensembl chr 3:15,465,294...15,519,104
JBrowse link
G Prrx2 paired related homeobox 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,132,574...14,168,533
Ensembl chr 3:14,094,004...14,168,535
JBrowse link
G Prss54 serine protease 54 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,479,995...9,496,838
Ensembl chr19:9,479,995...9,496,835
JBrowse link
G Psme3ip1 proteasome activator subunit 3 interacting protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,401,400...10,430,059
Ensembl chr19:10,401,532...10,429,987
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
JBrowse link
G Ptdss2 phosphatidylserine synthase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,241,439...196,267,632
Ensembl chr 1:196,241,494...196,267,685
JBrowse link
G Ptges prostaglandin E synthase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,177,892...14,189,236 JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,690,501...15,697,688
Ensembl chr 3:15,690,501...15,697,688
JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664
JBrowse link
G Ptpa protein phosphatase 2 phosphatase activator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,689,742...13,720,287
Ensembl chr 3:13,689,741...13,722,549
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648
JBrowse link
G Qrfp pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:15,088,045...15,088,419
Ensembl chr 3:15,088,045...15,088,425
JBrowse link
G Ralgps1 Ral GEF with PH domain and SH3 binding motif 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,433,323...16,670,276
Ensembl chr 3:16,433,742...16,669,972
JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:12,898,349...13,016,234
Ensembl chr 3:12,898,266...13,013,984
JBrowse link
G Rassf1 Ras association domain family member 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770
JBrowse link
G Rbbp8nl RBBP8 N-terminal like ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,364,048...167,378,993
Ensembl chr 3:167,364,048...167,379,092
JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430
JBrowse link
G Rbm6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771
JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:156,618,713...156,630,710
Ensembl chr 1:156,615,349...156,631,257
JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675
JBrowse link
G Rnf220 ring finger protein 220 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,739,173...130,961,386
Ensembl chr 5:130,739,183...130,961,418
JBrowse link
G Rnh1 ribonuclease/angiogenin inhibitor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,269,293...196,281,763
Ensembl chr 1:196,269,293...196,281,910
JBrowse link
G Rpl12 ribosomal protein L12 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,264,269...16,266,645
Ensembl chr 3:16,264,251...16,266,642
JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
JBrowse link
G Rps21-ps1 ribosomal protein S21, pseudogene 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 5:153,387,133...153,387,476
Ensembl chr 5:153,387,176...153,387,427
JBrowse link
G Rps8 ribosomal protein S8 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,630,362...130,632,932
Ensembl chr 5:130,629,716...130,633,268
JBrowse link
G Rspry1 ring finger and SPRY domain containing 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,352,449...10,403,015
Ensembl chr19:10,353,821...10,401,102
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
G Samd10 sterile alpha motif domain containing 10 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,700,280...168,704,427
Ensembl chr 3:168,700,284...168,705,248
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy ClinVar PMID:1868258 PMID:1893099 PMID:9126059 PMID:9536098 PMID:9573403 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:15048894 PMID:15133511 PMID:16865694 PMID:17021166 PMID:17347258 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:10051516 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISS
ISO
OMIM:300088 | OMIM:300607 | OMIM:300672 | OMIM:308350 | OMIM:609304 | OMIM:612164 | OMIM:613402 | OMIM:613477 | OMIM:613720 | OMIM:613721 | OMIM:613722 | OMIM:614558 | OMIM:614959 | OMIM:615006 | OMIM:615338 | OMIM:615473 | OMIM:615476
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy
MouseDO
ClinVar
PMID:9536098 PMID:12374766 PMID:15525788 PMID:15800189 PMID:16199547 More... NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658
JBrowse link
G Selenop selenoprotein P ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919
JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083
JBrowse link
G Set Set nuclear proto-oncogene ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567
JBrowse link
G Setd6 SET domain containing 6, protein lysine methyltransferase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,343,309...9,350,477
Ensembl chr19:9,347,458...9,350,453
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:16,010,622...16,046,491
Ensembl chr 3:16,010,625...16,046,484
JBrowse link
G Sh3glb2 SH3 domain-containing GRB2-like endophilin B2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,616,936...13,631,785
Ensembl chr 3:13,616,938...13,631,757
JBrowse link
G Sigirr single Ig and TIR domain containing ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,195,363...196,208,692
Ensembl chr 1:196,199,462...196,202,269
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
JBrowse link
G Slc17a9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,839,246...167,857,462
Ensembl chr 3:167,839,385...167,855,985
JBrowse link
G Slc22a18 solute carrier family 22, member 18 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:15592994 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr 3:168,493,975...168,497,616 JBrowse link
G Slc2a8 solute carrier family 2 member 8 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,274,918...16,284,536
Ensembl chr 3:16,274,925...16,284,464
JBrowse link
G Slc38a3 solute carrier family 38, member 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
JBrowse link
G Slc38a7 solute carrier family 38, member 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,209,203...9,225,472
Ensembl chr19:9,209,257...9,225,454
JBrowse link
G Slc6a9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 5:131,374,562...131,408,733
Ensembl chr 5:131,374,542...131,408,728
JBrowse link
G Slco4a1 solute carrier organic anion transporter family, member 4a1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,559,177...167,578,307
Ensembl chr 3:167,559,316...167,578,305
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:15044754 PMID:15834421 PMID:25381298 PMID:25741868 PMID:28492532 More... NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
JBrowse link
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:12,019,376...12,028,801
Ensembl chr 3:12,019,363...12,029,119
JBrowse link
G Spmip8 sperm microtubule inner protein 8 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,713,281...9,722,257
Ensembl chr19:9,712,641...9,722,257
JBrowse link
G Spout1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,451,191...13,458,918
Ensembl chr 3:13,451,202...13,493,355
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 More... NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19763152 More... NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,894,275...15,907,502
Ensembl chr 3:15,885,968...15,907,496
JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Swi5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:15,574,687...15,583,760
Ensembl chr 3:15,564,715...15,583,805
JBrowse link
G Syt8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:197,588,126...197,593,598
Ensembl chr 1:197,590,149...197,593,504
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
JBrowse link
G Tbc1d13 TBC1 domain family, member 13 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,408,944...13,425,524
Ensembl chr 3:13,408,920...13,425,517
JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:167,734,471...167,754,174
Ensembl chr 3:167,734,473...167,754,282
JBrowse link
G Tesk2 testis associated actin remodelling kinase 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,178,715...130,270,594
Ensembl chr 5:130,185,033...130,271,292
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link
G Tmem115 transmembrane protein 115 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chr 8:108,207,463...108,212,327
Ensembl chr 8:108,207,654...108,212,298
JBrowse link
G Tmem267 transmembrane protein 267 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:51,580,210...51,588,937
Ensembl chr 2:51,581,252...51,587,636
JBrowse link
G Tmem53 transmembrane protein 53 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,721,780...130,737,692
Ensembl chr 5:130,721,659...130,737,692
JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,004,888...130,008,466
Ensembl chr 5:130,004,901...130,010,655
JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367
Ensembl chr 1:196,436,003...196,444,367
JBrowse link
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
JBrowse link
G Toe1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,270,484...130,274,050
Ensembl chr 5:130,262,319...130,274,050
JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625
JBrowse link
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691
JBrowse link
G Tor1b torsin family 1, member B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,243,181...14,249,279
Ensembl chr 3:14,243,243...14,249,272
JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:16,048,591...16,053,198
Ensembl chr 3:16,048,549...16,052,634
JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr 3:168,598,449...168,618,201
Ensembl chr 3:168,594,609...168,619,762
JBrowse link
G Traip TRAF-interacting protein ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
JBrowse link
G Trpm5 transient receptor potential cation channel, subfamily M, member 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,254,956...198,277,824
Ensembl chr 1:198,255,723...198,277,654
JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:13,049,220...13,059,836
Ensembl chr 3:13,033,745...13,059,930
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,190,128...198,204,447
Ensembl chr 1:198,190,164...198,204,445
JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:196,571,307...196,593,842
Ensembl chr 1:196,572,228...196,617,448
JBrowse link
G Tssc4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:198,251,986...198,254,810
Ensembl chr 1:198,235,487...198,254,980
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:16,052,567...16,064,598
Ensembl chr 3:16,048,565...16,064,547
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14738421 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:12,384,626...12,409,257
Ensembl chr 3:12,384,655...12,409,257
JBrowse link
G Tusc2 tumor suppressor 2, mitochondrial calcium regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,236,838...108,240,056
Ensembl chr 8:108,236,838...108,240,056
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 More... NCBI chr 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894
JBrowse link
G Uba7 ubiquitin-like modifier activating enzyme 7 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 8:108,665,289...108,674,097
Ensembl chr 8:108,665,292...108,674,099
JBrowse link
G Uck1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:15,538,580...15,544,465
Ensembl chr 3:15,538,591...15,544,465
JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,674,849...168,687,513
Ensembl chr 3:168,674,849...168,698,091
JBrowse link
G Urm1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 3:13,100,340...13,117,064
Ensembl chr 3:13,092,200...13,117,642
Ensembl chr 3:13,092,200...13,117,642
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
JBrowse link
G Usb1 U6 snRNA biogenesis phosphodiesterase 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,689,313...9,702,306
Ensembl chr19:9,689,316...9,702,302
JBrowse link
G Usp20 ubiquitin specific peptidase 20 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:14,272,737...14,306,409
Ensembl chr 3:14,272,908...14,306,409
JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein F1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172
JBrowse link
G Zbtb34 zinc finger and BTB domain containing 34 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,703,355...16,726,082
Ensembl chr 3:16,703,262...16,726,098
JBrowse link
G Zbtb43 zinc finger and BTB domain containing 43 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 3:16,744,535...16,763,854
Ensembl chr 3:16,744,535...16,763,909
JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
JBrowse link
G Zdhhc12 zinc finger DHHC-type palmitoyltransferase 12 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,363,504...13,366,383
Ensembl chr 3:13,363,504...13,366,474
JBrowse link
G Zer1 zyg-11 related, cell cycle regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 3:13,369,688...13,397,524
Ensembl chr 3:13,369,688...13,397,420
JBrowse link
G Zfp131 zinc finger protein 131 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:51,722,774...51,753,662
Ensembl chr 2:51,725,541...51,753,639
JBrowse link
G Zfp319 zinc finger protein 319 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,702,827...9,706,806
Ensembl chr19:9,702,144...9,713,198
JBrowse link
G Zfp35 zinc finger protein 35 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr18:15,268,852...15,284,334
Ensembl chr18:15,268,814...15,285,088
JBrowse link
G Zfp512b zinc finger protein 512B ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,687,520...168,698,067
Ensembl chr 3:168,687,521...168,698,091
JBrowse link
G Zgpat zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr 3:168,473,836...168,490,380
Ensembl chr 3:168,473,981...168,490,380
JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
JBrowse link
G Zswim5 zinc finger, SWIM-type containing 5 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:130,346,733...130,463,791
Ensembl chr 5:130,343,034...130,463,784
JBrowse link
congenital disorder of glycosylation type IIm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684
JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,227,392...1,292,356
Ensembl chr  X:1,227,392...1,239,073
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244
JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:15,478,050...15,543,292
Ensembl chr  X:15,478,065...15,542,885
JBrowse link
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,492,814...1,504,309
Ensembl chr  X:1,492,814...1,504,148
JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,162,014...1,167,576
Ensembl chr  X:1,161,979...1,167,573
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:14,243,684...14,256,555
Ensembl chr  X:14,244,050...14,252,030
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683
JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384
JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233
JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393
JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062
JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:16,326,775...16,333,396
Ensembl chr  X:16,326,598...16,333,145
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566
JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,617,582...14,622,851
Ensembl chr  X:14,617,582...14,622,851
JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514
JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:14,285,864...14,298,481
Ensembl chr  X:14,285,871...14,298,481
JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218
JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,540,399...1,572,571
Ensembl chr  X:1,540,398...1,572,575
JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,348,909...14,352,387
Ensembl chr  X:14,348,910...14,353,580
JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:15,869,065...16,076,850
Ensembl chr  X:15,869,065...16,076,869
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: CDG IIm | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG OMIM
ClinVar
PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:25877686 More... NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678
JBrowse link
G Slc38a5 solute carrier family 38, member 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:14,213,727...14,222,498
Ensembl chr  X:14,213,729...14,222,498
JBrowse link
G Spaca5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:918,817...922,000
Ensembl chr  X:918,817...922,049
JBrowse link
G Ssx1 SSX family member 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:13,931,433...13,939,732
Ensembl chr  X:13,931,470...13,939,720
JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,421,028...14,433,993
Ensembl chr  X:14,421,109...14,433,982
JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:141,792,589...141,795,257 JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,172,208...1,227,400
Ensembl chr  X:1,172,208...1,227,396
JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745
JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275
JBrowse link
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 NCBI chr  X:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571
JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,596,330...14,603,491
Ensembl chr  X:14,594,577...14,603,416
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,508,700...1,530,677
Ensembl chr  X:1,508,666...1,530,636
JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,473,349...1,489,520
Ensembl chr  X:1,473,350...1,489,520
JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:15,123,620...15,126,855
Ensembl chr  X:15,124,596...15,125,912
JBrowse link
G Uxt ubiquitously-expressed, prefoldin-like chaperone ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,126,110...1,138,670
Ensembl chr  X:1,126,162...1,138,663
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,405,105...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,362,484...14,373,727
Ensembl chr  X:14,362,860...14,373,727
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202
JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698
JBrowse link
G Zfp182 zinc finger protein 182 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:927,439...1,001,474
Ensembl chr  X:899,439...1,000,954
JBrowse link
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:1,030,103...1,126,078
Ensembl chr  X:1,036,153...1,126,102
JBrowse link
developmental and epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:23953072 PMID:25741868 PMID:28492532 NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:107,906,320...107,968,232
Ensembl chr  X:107,885,093...107,942,695
JBrowse link
G Amdhd2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095
JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:35638461 NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513
JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
CTD Direct Evidence: marker/mechanism
associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human)
OMIM
ClinVar
CTD
RGD
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 More... RGD:11565838, RGD:11565846 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Atmin ATM interactor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:44,996,506...45,013,606
Ensembl chr19:44,996,356...45,013,605
JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,196,204...13,202,580
Ensembl chr10:13,196,204...13,201,500
JBrowse link
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101
JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,691,610...12,700,049
Ensembl chr10:12,691,610...12,700,049
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
JBrowse link
G C19h16orf46 similar to human chromosome 16 open reading frame 46 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,017,499...45,033,453
Ensembl chr19:45,022,280...45,032,683
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
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 More... NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
JBrowse link
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 More... NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Cdyl2 chromodomain Y-like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:44,591,734...44,783,258
Ensembl chr19:44,597,459...44,783,022
JBrowse link
G Cenpn centromere protein N ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:44,971,265...44,994,019
Ensembl chr19:44,968,308...44,994,012
JBrowse link
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 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,710,302...12,713,987
Ensembl chr10:12,709,960...12,715,973
JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,714,137...12,715,568 JBrowse link
G Cmc2 C-x(9)-C motif containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:44,943,283...44,971,930
Ensembl chr19:44,943,285...44,971,983
JBrowse link
G Cmip c-Maf-inducing protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,304,597...45,510,653
Ensembl chr19:45,304,031...45,508,709
JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794
JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:30097719 PMID:32909139 PMID:36413998 NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
JBrowse link
G Dynlrb2 dynein light chain roadblock-type 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:44,520,134...44,531,384
Ensembl chr19:44,520,134...44,531,387
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974
JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061
JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,848,830...12,853,897
Ensembl chr10:12,848,827...12,853,635
JBrowse link
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 chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968
JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012
JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,774,644...12,794,373
Ensembl chr10:12,774,653...12,794,267
JBrowse link
G Flywch2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,798,757...12,807,082
Ensembl chr10:12,798,762...12,806,439
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,207,783...45,265,066
Ensembl chr19:45,207,184...45,254,107
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792
JBrowse link
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 chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
JBrowse link
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 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504
JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,705,139...12,706,852
Ensembl chr10:12,705,077...12,706,850
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774
JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588
JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:26224535 PMID:28492532 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
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 More... NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Kctd5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,079,216...13,105,197
Ensembl chr10:13,079,214...13,105,209
JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,763,345...12,767,622
Ensembl chr10:12,763,397...12,767,854
JBrowse link
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 Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:9536098 PMID:17576681 PMID:24369382 PMID:24456803 PMID:25411445 More... NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046
JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,661,297...12,676,119
Ensembl chr10:12,661,208...12,675,871
JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406
JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609
JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:33189936 NCBI chr 3:136,132,248...136,179,280
Ensembl chr 3:136,133,428...136,179,345
JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442
JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049
JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,723,253...13,726,008
Ensembl chr10:13,721,473...13,726,061
JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586
JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 1:203,726,420...203,842,301
Ensembl chr 1:203,735,753...203,842,297
JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957
JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001
JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,903,224...13,906,928
Ensembl chr10:13,903,224...13,906,969
JBrowse link
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 More... NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583
JBrowse link
G Paqr4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,758,970...12,762,649
Ensembl chr10:12,758,972...12,762,584
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524
JBrowse link
G Pcyt1b phosphate cytidylyltransferase 1B, choline ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:58,378,090...58,471,623
Ensembl chr  X:58,378,116...58,468,935
JBrowse link
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:58,486,699...58,553,533
Ensembl chr  X:58,486,554...58,553,557
JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase-1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623
JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532
JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,748,221...12,758,995
Ensembl chr10:12,748,237...12,758,995
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
JBrowse link
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:58,034,617...58,348,612
Ensembl chr  X:58,034,619...58,348,536
JBrowse link
G Prss21 serine protease 21 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,899,820...12,905,612
Ensembl chr10:12,900,535...12,905,618
JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,029,153...13,033,863
Ensembl chr10:13,029,153...13,033,863
JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,069,959...13,077,322
Ensembl chr10:13,069,959...13,077,322
JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,858,941...12,861,281
Ensembl chr10:12,858,941...12,861,281
JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,865,872...12,873,552
Ensembl chr10:12,865,872...12,873,552
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030
JBrowse link
G Reps2 RALBP1 associated Eps domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:32,049,455...32,322,317
Ensembl chr  X:32,049,399...32,317,414
JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,742,682...13,747,192
Ensembl chr10:13,742,682...13,745,000
JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858
JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457
JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
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 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
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 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100
JBrowse link
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 chr10:13,907,175...13,912,841
Ensembl chr10:13,907,253...13,912,841
JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751
JBrowse link
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 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr10:13,710,553...13,715,309
Ensembl chr10:13,704,998...13,715,669
JBrowse link
G Synj1 synaptojanin 1 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 chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 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