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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:electroclinical syndrome
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Accession:DOID:0050701 term browser browse the term
Definition:An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. (DO)
Synonyms:exact_synonym: electro-clinical syndrome
 narrow_synonym: TRIM8-RELATED EPILEPTIC ENCEPHALOPATHY


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electroclinical syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim8 tripartite motif-containing 8 ISO ClinVar Annotator: match by term: TRIM8-related epileptic encephalopathy ClinVar PMID:25741868 PMID:30244534 PMID:33508234 NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513 		JBrowse link
absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dip2b disco-interacting protein 2 homolog B ISO ClinVar Annotator: match by term: Generalized non-motor (absence) seizure ClinVar PMID:25741868 NCBI chr 7:131,174,575...131,350,417
Ensembl chr 7:131,174,567...131,349,092 		JBrowse link
G Efhc1 EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Absence epilepsy | ClinVar Annotator: match by term: Absence seizure ClinVar PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16839746 More... NCBI chr 9:23,375,815...23,414,283
Ensembl chr 9:23,375,840...23,414,283 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Generalized non-motor (absence) seizure ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Generalized non-motor (absence) seizure ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Generalized non-motor (absence) seizure ClinVar PMID:25741868 NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr15:40,342,317...40,358,601
Ensembl chr15:40,342,317...40,358,601 		JBrowse link
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy ClinVar PMID:23686771 PMID:25741868 PMID:26595808 PMID:28492532 NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009 		JBrowse link
benign epilepsy with centrotemporal spikes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26075876 PMID:26467025 PMID:28492532 PMID:29140481 More... NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18179895 PMID:22872700 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 5:8,526,708...8,888,492
Ensembl chr 5:8,526,741...8,888,485 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More... NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24591017 PMID:25366275 PMID:25741868 PMID:26505888 PMID:28166811 More... NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794 		JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:5,727,111...5,845,338
Ensembl chr 1:5,727,066...5,920,555 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:9536098 PMID:17576681 PMID:23708187 PMID:25726841 PMID:25730860 More... NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rolandic epilepsy		 CTD
ClinVar		 PMID:7574460 PMID:16199547 PMID:18414213 PMID:23933818 PMID:23933819 More... NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:29358611 NCBI chr 4:132,342,131...132,342,625
Ensembl chr 4:132,332,180...132,342,316 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign Rolandic epilepsy ClinVar PMID:18625963 NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18625963 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:19214208 PMID:19752159 PMID:20713952 PMID:25741868 PMID:26467025 More... NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113 		JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 4:124,869,655...125,214,862
Ensembl chr 4:124,869,552...125,214,824 		JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24039908 PMID:25741868 PMID:26467025 PMID:28346479 PMID:28492532 More... NCBI chr10:8,152,198...10,248,120
Ensembl chr10:8,152,198...9,686,659 		JBrowse link
G Rbfox3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr10:103,720,355...104,157,277
Ensembl chr10:103,720,636...104,156,935 		JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:10973257 PMID:14515139 PMID:14593429 PMID:20697953 PMID:24828792 More... NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211 		JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:11254445 PMID:12610651 PMID:18021921 PMID:19200853 PMID:19522081 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 PMID:29758173 NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213 PMID:20478850 PMID:23895530 PMID:24776970 PMID:24848745 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293 		JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 5:137,328,371...137,335,846
Ensembl chr 5:137,328,371...137,335,845 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25224718 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 More... NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830 		JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 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: Rolandic epilepsy ClinVar PMID:24033266 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391 		JBrowse link
benign familial infantile epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd1c jumonji domain containing 1C ISO ClinVar Annotator: match by term: Benign familial infantile epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Benign familial infantile convulsions syndrome | ClinVar Annotator: match by term: Benign familial infantile epilepsy | ClinVar Annotator: match by term: Benign infantile familial convulsions ClinVar PMID:11326335 PMID:15048894 PMID:17021166 PMID:18479388 PMID:23360469 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
benign familial infantile seizures 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 1 ClinVar PMID:37578743 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
benign familial infantile seizures 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 2 OMIM
ClinVar		 PMID:2131349 PMID:9579893 PMID:11179027 PMID:11346027 PMID:12953268 More... NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850 		JBrowse link
benign familial infantile seizures 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 3
CTD Direct Evidence: marker/mechanism
DNA: missense mutation: exon 16 : p.N1001K		 OMIM
ClinVar
CTD
RGD		 PMID:2635020 PMID:3508699 PMID:6660252 PMID:9536098 PMID:11326335 More... RGD:13207596 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: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
benign familial infantile seizures 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 ClinVar PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 More... NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 5 OMIM
ClinVar		 PMID:9536098 PMID:12374766 PMID:17576681 PMID:17881658 PMID:18414213 More... NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
benign familial infantile seizures 6 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: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,594,677...168,596,574
Ensembl chr 3:168,594,609...168,619,762 		JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		JBrowse link
G Arfgap1 ADP-ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,084,560...168,099,948
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: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914 		JBrowse link
G Bhlhe23 basic helix-loop-helix family, member e23 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,889,009...167,891,223
Ensembl chr 3:167,889,009...167,891,223 		JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606 		JBrowse link
G Ccdc25 coiled-coil domain containing 25 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:40,055,368...40,087,758
Ensembl chr15:40,055,368...40,087,758 		JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Seizures, benign familial infantile, 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr15:40,342,317...40,358,601
Ensembl chr15:40,342,317...40,358,601 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:3089211 PMID:7476881 PMID:7550350 PMID:7647781 PMID:8696332 More... NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:9536098 PMID:11062464 PMID:11104662 PMID:11906688 PMID:16199547 More... NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
G Clu clusterin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Col20a1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,102,475...168,134,759
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: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
G Crh corticotropin releasing hormone ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:23086396 PMID:23593457 PMID:24395520 PMID:25741868 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24283814 PMID:25366275 PMID:25741868 PMID:28492532 PMID:28549235 More... NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794 		JBrowse link
G Dido1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218 		JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935 		JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Elp3 elongator acetyltransferase complex subunit 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,754,635...39,816,482
Ensembl chr15:39,754,632...39,816,445 		JBrowse link
G Ephx2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615 		JBrowse link
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306 		JBrowse link
G Extl3 exostosin-like glycosyltransferase 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,294,033...39,384,086
Ensembl chr15:39,293,605...39,338,898 		JBrowse link
G Fbxo16 F-box protein 16 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,492,268...39,541,493
Ensembl chr15:39,492,377...39,541,480 		JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617 		JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,421,366...39,488,369
Ensembl chr15:39,421,355...39,488,369 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:33391346 NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Gid8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,826,006...167,836,759
Ensembl chr 3:167,826,060...167,834,814 		JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788 		JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,490,535...168,496,627
Ensembl chr 3:168,490,074...168,493,127 		JBrowse link
G Nkain4 Sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,053,294...168,073,944
Ensembl chr 3:168,053,066...168,073,925 		JBrowse link
G Nuggc nuclear GTPase, germinal center associated ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,821,851...39,866,122
Ensembl chr15:39,821,855...39,866,122 		JBrowse link
G Pbk PDZ binding kinase ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:40,022,873...40,034,014
Ensembl chr15:40,023,002...40,034,014 		JBrowse link
G Pnoc prepronociceptin ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,624,635...39,652,463
Ensembl chr15:39,624,641...39,651,867 		JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036 		JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,706,952...168,771,191
Ensembl chr 3:168,704,299...168,774,991 		JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,427,247...168,465,349
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: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,700,280...168,704,427
Ensembl chr 3:168,700,284...168,705,248 		JBrowse link
G Scara3 scavenger receptor class A, member 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:40,139,873...40,172,866
Ensembl chr15:40,140,161...40,172,894 		JBrowse link
G Scara5 scavenger receptor class A, member 5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,880,017...39,985,007
Ensembl chr15:39,880,035...39,983,373 		JBrowse link
G Slc17a9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,839,246...167,857,462
Ensembl chr 3:167,839,385...167,855,985 		JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,493,975...168,497,616 JBrowse link
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290 		JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915 		JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056 		JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:167,734,471...167,754,174
Ensembl chr 3:167,734,473...167,754,282 		JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,598,449...168,618,201
Ensembl chr 3:168,594,609...168,619,762 		JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,674,849...168,687,513
Ensembl chr 3:168,674,849...168,698,091 		JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein F1 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172 		JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782 		JBrowse link
G Zfp395 zinc finger protein 395 ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr15:39,581,603...39,621,911
Ensembl chr15:39,608,080...39,619,950 		JBrowse link
G Zfp512b zinc finger protein 512B ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:28492532 NCBI chr 3:168,687,520...168,698,067
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: Autosomal dominant nocturnal frontal lobe epilepsy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:168,473,836...168,490,380
Ensembl chr 3:168,473,981...168,490,380 		JBrowse link
benign familial neonatal epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Familial neonatal seizures 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 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Familial neonatal seizures 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 Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign familial neonatal epilepsy ClinVar PMID:18625963 PMID:19464834 PMID:28492532 NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Benign familial neonatal epilepsy | ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar PMID:18249525 PMID:18625963 PMID:19344764 PMID:19464834 PMID:21703448 More... NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Familial neonatal seizures ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 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: Benign familial neonatal-infantile seizures | ClinVar Annotator: match by term: Benign infantile familial convulsions
ClinVar Annotator: match by term: Familial neonatal seizures		 ClinVar PMID:6660252 PMID:15048894 PMID:15133511 PMID:16865694 PMID:17021166 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: Familial neonatal seizures ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Familial neonatal seizures 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 Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Familial neonatal seizures ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 ClinVar NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: KCNQ2-related condition | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia OMIM
ClinVar		 PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 PMID:9425895 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
Benign Familial Neonatal Seizures, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 ClinVar PMID:12742592 PMID:15249611 PMID:17129708 PMID:18625963 PMID:19464834 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2
DNA:missense mutation:cds:p.W309R (human)
DNA:missense mutation:cds:p.G263V (human)		 OMIM
ClinVar
RGD		 PMID:1859177 PMID:9425900 PMID:9536098 PMID:10852552 PMID:14534157 More... RGD:9686433, RGD:9686418 NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653 		JBrowse link
Benign Neonatal Epilepsy 1, and/or Myokymia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia ClinVar PMID:24375629 PMID:25741868 NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
Benign Neonatal Epilepsy, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1 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
benign neonatal seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: neonatal seizures ClinVar PMID:16199547 PMID:16491085 PMID:20554659 PMID:21733724 PMID:25741868 More... NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO RGD PMID:12953268 RGD:1358436 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Ccn4 cellular communication network factor 4 ISO ClinVar Annotator: match by term: Benign neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248 		JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Neonatal seizure ClinVar NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172 		JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Benign neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:121200 | OMIM:121201 | OMIM:269720
ClinVar Annotator: match by term: Benign neonatal seizures		 CTD
MouseDO
ClinVar		 PMID:18625963 PMID:19380078 PMID:19464834 PMID:26910900 PMID:28492532 NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISS
ISO		 OMIM:121200 | OMIM:121201 | OMIM:269720
ClinVar Annotator: match by term: Benign Neonatal Epilepsy | ClinVar Annotator: match by term: Benign neonatal seizures		 MouseDO
ClinVar		 PMID:9425900 PMID:9536098 PMID:14534157 PMID:16199547 PMID:16235065 More... NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Benign neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880 		JBrowse link
G Phf20l1 PHD finger protein 20-like 1 ISO ClinVar Annotator: match by term: Benign neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,330,580...98,396,526
Ensembl chr 7:98,330,580...98,396,526 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: neonatal seizures ClinVar PMID:14635118 PMID:16919951 PMID:20185557 PMID:21357833 PMID:21550804 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Benign Neonatal Epilepsy ClinVar PMID:20371507 PMID:25741868 PMID:27779742 PMID:28379373 PMID:28492532 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Sla src-like adaptor ISO ClinVar Annotator: match by term: Benign neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648 		JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Benign neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		JBrowse link
G Tmem71 transmembrane protein 71 ISO ClinVar Annotator: match by term: Benign neonatal seizures ClinVar PMID:28492532 PMID:29383681 PMID:29852413 NCBI chr 7:98,276,975...98,323,161
Ensembl chr 7:98,276,975...98,315,858 		JBrowse link
childhood absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A IAGP
ISO		 DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17196942 PMID:17196942 RGD:1598976 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cacna1agry calcium voltage-gated channel subunit alpha1 A; groggy mutant IAGP RGD PMID:17196942 RGD:1598976
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: CACNA1H-related disorder
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:17696120 PMID:25741868 PMID:26467025 More... RGD:1358447 NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376 		JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173 		JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 IEP mRNA,protein:increased expression:somatosensory cortex, primary motor cortex RGD PMID:18556211 RGD:13524553 NCBI chr 7:109,572,838...109,698,516
Ensembl chr 7:109,574,459...109,697,227 		JBrowse link
G Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 ISO RGD PMID:11904235 RGD:728397 NCBI chr 1:177,201,361...177,297,019
Ensembl chr 1:177,201,288...177,297,024 		JBrowse link
G Efhc1 EF-hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:23,375,815...23,414,283
Ensembl chr 9:23,375,840...23,414,283 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:16718694 PMID:25741868 PMID:28492532 NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864 		JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:26,810,411...26,825,768
Ensembl chr10:26,810,423...26,825,769 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18514161 PMID:16835263 RGD:1601269 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Grik1 glutamate ionotropic receptor kainate type subunit 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chr11:27,169,739...27,571,131
Ensembl chr11:27,169,740...27,570,645 		JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP RGD PMID:15182313 RGD:9686420 NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774 		JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 IMP RGD PMID:15050708 RGD:6480686 NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:233,636,452...233,760,626 		JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 7:106,590,662...106,595,345
Ensembl chr 7:106,589,484...106,596,371 		JBrowse link
G Kcnk9 potassium two pore domain channel subfamily K member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr 7:104,429,186...104,473,924
Ensembl chr 7:104,437,934...104,473,175 		JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO DNA:point mutation: :c.1914G>A (human) RGD PMID:14505228 RGD:1302591 NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:20303372 RGD:8547934 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Npy neuropeptide Y treatment ISO
IDA		 RGD PMID:17331209 PMID:24039965 RGD:10448963, RGD:10448964 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Npy1r neuropeptide Y receptor Y1 treatment IDA RGD PMID:17331209 RGD:10448963 NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759 		JBrowse link
G Npy2r neuropeptide Y receptor Y2 treatment IDA RGD PMID:17331209 RGD:10448963 NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024 		JBrowse link
G Npy5r neuropeptide Y receptor Y5 treatment IDA RGD PMID:17331209 RGD:10448963 NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 onset ISO DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta IEP protein:increased expression:parietal lobe RGD PMID:21310218 RGD:9587483 NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668 		JBrowse link
Childhood Absence Epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp10a ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr 1:109,556,760...109,730,440
Ensembl chr 1:109,556,782...109,730,437 		JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr 1:108,268,728...108,381,670
Ensembl chr 1:108,268,776...108,380,917 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:2828157 PMID:8382702 PMID:9536098 PMID:11198279 PMID:11742254 More... NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr 1:107,627,450...108,247,483
Ensembl chr 1:107,627,390...108,246,763 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:26068938 PMID:28492532 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G Rorb RAR-related orphan receptor B ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:25950944 NCBI chr 1:216,363,629...216,544,390
Ensembl chr 1:216,363,629...216,544,390 		JBrowse link
Childhood Absence Epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar PMID:16718694 PMID:22190369 PMID:22539854 PMID:22750526 PMID:24407264 More... NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 | ClinVar Annotator: match by term: GABRG2-related disorder ClinVar PMID:9536098 PMID:11326275 PMID:12097483 PMID:12117362 PMID:15342642 More... NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346 		JBrowse link
Childhood Absence Epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, childhood absence 5 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 5 ClinVar
OMIM		 PMID:18514161 PMID:19935738 PMID:20550555 PMID:22303015 PMID:23934111 More... NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
Childhood Absence Epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 6 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 6 ClinVar
OMIM		 PMID:9536098 PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 More... NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376 		JBrowse link
childhood electroclinical syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISS MouseDO NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		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
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy OMIM
ClinVar		 PMID:25741868 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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 Asb6 ankyrin repeat and SOCS box-containing 6 ISO ClinVar Annotator: match by term: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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 Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy ClinVar NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634 		JBrowse link
G B4galnt4 beta-1,4-N-acetyl-galactosaminyl transferase 4 ISO ClinVar Annotator: match by term: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 More... 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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 Elfn1 extracellular leucine-rich repeat and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24312227 PMID:34509675 NCBI chr12:14,660,049...14,725,709
Ensembl chr12:14,660,083...14,724,580 		JBrowse link
G Endog endonuclease G ISO ClinVar Annotator: match by term: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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 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: Developmental and 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: Developmental and 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 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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 Kcna3 potassium voltage-gated channel subfamily A member 3 ISO ClinVar Annotator: match by term: KCNA3-associated developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:37964487 NCBI chr 2:194,632,106...194,634,059
Ensembl chr 2:194,632,196...194,650,138 		JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:31600826 PMID:32954514 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and epileptic encephalopathy
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy		 ClinVar PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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: Developmental and 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