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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:visual pathway disease
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Accession:DOID:1393 term browser browse the term
Definition:An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image. (DO)
Synonyms:primary_id: RDO:9002702
 xref: ICD10CM:H47.9;   NCI:C35342
For additional species annotation, visit the Alliance of Genome Resources.


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Alcohol Withdrawal Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a1 solute carrier family 29 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21283641 NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27219321 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by OMIM:615553
ClinVar Annotator: match by term: Arthrogryposis, mental retardation, and seizures
OMIM
ClinVar
PMID:16199547 PMID:24031089 PMID:25741868 PMID:28328131 PMID:28492532 PMID:28777481 NCBI chr 2:219,705,618...219,741,886
Ensembl chr 2:219,705,620...219,741,886
JBrowse link
autosomal dominant non-syndromic intellectual disability 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apold1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:168,752,142...168,755,024
Ensembl chr 4:168,752,133...168,755,023
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Ddx47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:168,775,134...168,787,594
Ensembl chr 4:168,775,111...168,787,730
JBrowse link
G Emp1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:169,161,076...169,181,967
Ensembl chr 4:169,147,243...169,181,966
JBrowse link
G Fam234b family with sequence similarity 234, member B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:168,976,797...169,052,750
Ensembl chr 4:168,976,859...169,019,561
JBrowse link
G Gprc5a G protein-coupled receptor, class C, group 5, member A ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:168,832,937...168,851,650
Ensembl chr 4:168,832,910...168,851,652
JBrowse link
G Gprc5d G protein-coupled receptor, class C, group 5, member D ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:168,872,897...168,884,925
Ensembl chr 4:168,872,897...168,884,886
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES
ClinVar Annotator: match by OMIM:613970
OMIM
ClinVar
PMID:16537520 PMID:18414213 PMID:20890276 PMID:23160955 PMID:23408766 PMID:23918416 PMID:24272827 PMID:25326635 PMID:25326637 PMID:25356899 PMID:25741868 PMID:25741869 PMID:26350515 PMID:26467025 PMID:27572814 PMID:27616045 PMID:27656287 PMID:27818011 PMID:27839871 PMID:27854218 PMID:28191890 PMID:28283559 PMID:28377535 PMID:28440294 PMID:28492532 PMID:28503605 PMID:28554332 PMID:28708303 PMID:28856709 PMID:30217972 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Gsg1 germ cell associated 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:169,020,680...169,037,021
Ensembl chr 4:169,020,683...169,036,950
JBrowse link
G Hebp1 heme binding protein 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:168,903,586...168,933,102
Ensembl chr 4:168,903,565...168,933,079
JBrowse link
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ClinVar
OMIM
PMID:25741868 PMID:27567911 PMID:29545233 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar
PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25741868 PMID:28492532 PMID:29228254 PMID:29481669 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 ClinVar
OMIM
PMID:27432940 NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
JBrowse link
childhood onset epileptic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:15,610,230...15,616,727
Ensembl chr  X:15,598,652...15,617,665
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 PMID:28492532 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset
ClinVar Annotator: match by OMIM:615369
OMIM
ClinVar
PMID:2578359 PMID:9326634 PMID:15955779 PMID:15988005 PMID:22178256 PMID:23020937 PMID:23708187 PMID:24207121 PMID:24614520 PMID:24932903 PMID:25262651 PMID:25326635 PMID:25384982 PMID:25418537 PMID:25741868 PMID:25783594 PMID:26467025 PMID:26615199 PMID:26754451 PMID:26795593 PMID:28074849 PMID:28492532 PMID:29358611 PMID:29720203 PMID:29740950 PMID:30564305 PMID:30868116 PMID:32238909 NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Dnm1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:25741868 PMID:27164707 PMID:27830185 NCBI chr11:75,606,360...76,171,078
Ensembl chr11:75,905,443...76,168,989
JBrowse link
G Fmr1 FMRP translational regulator 1 IEP protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:15,618,324...15,620,992
Ensembl chr  X:15,618,991...15,620,841
JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr10:8,312,961...10,437,778
Ensembl chr10:8,312,961...8,654,892
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:24033266 PMID:24995870 PMID:26384929 PMID:27261973 PMID:27600704 PMID:28492532 NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
JBrowse link
G Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr13:48,065,280...48,286,888
Ensembl chr13:48,068,158...48,286,720
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 PMID:26865513 PMID:26993267 PMID:28492532 PMID:29264391 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
G Fan1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:125,182,117...125,209,772
Ensembl chr 1:125,181,838...125,209,727
JBrowse link
G Klf13 Kruppel-like factor 13 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 1:124,772,596...124,803,363
Ensembl chr 1:124,772,596...124,803,363
JBrowse link
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:125,042,119...125,042,224
Ensembl chr 1:125,042,119...125,042,224
JBrowse link
G Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:125,124,743...125,175,857
Ensembl chr 1:125,124,743...125,175,857
JBrowse link
G Otud7a OTU deubiquitinase 7A ISO
ISS
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome
OMIM:612001
ClinVar
MouseDO
NCBI chr 1:124,311,873...124,655,437
Ensembl chr 1:124,625,985...124,653,820
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:124,983,391...125,101,759
Ensembl chr 1:124,983,452...125,099,573
JBrowse link
coloboma of optic nerve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:31256877 NCBI chr12:36,594,058...36,614,165
Ensembl chr12:36,594,047...36,614,210
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:25741868 NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Coloboma of optic disc
ClinVar Annotator: match by OMIM:120430
OMIM
ClinVar
PMID:12721955 PMID:25741868 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
Craniosynostosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 OMIM
ClinVar
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 PMID:18786927 PMID:23918290 PMID:23949913 PMID:25741868 PMID:27013732 PMID:28492532 PMID:28808027 NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
JBrowse link
developmental and epileptic encephalopathy 1 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: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,985,900...176,987,797
Ensembl chr 3:176,985,900...176,987,796
JBrowse link
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr  X:115,561,329...115,589,792
Ensembl chr  X:115,561,332...115,619,505
JBrowse link
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,857,667...176,865,105
Ensembl chr 3:176,859,151...176,865,103
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:23647072 PMID:25741868 PMID:28492532 NCBI chr10:55,532,097...55,545,675
Ensembl chr10:55,532,077...55,544,429
JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human)
ClinVar Annotator: match by OMIM:308350
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12177367 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12640086 PMID:12874418 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:16523516 PMID:17331656 PMID:17480217 PMID:17641262 PMID:17668384 PMID:18414213 PMID:18462864 PMID:19507262 PMID:19606478 PMID:19738637 PMID:20148114 PMID:20300201 PMID:20506206 PMID:21108397 PMID:21204215 PMID:21204226 PMID:21496008 PMID:22922607 PMID:23039062 PMID:23246292 PMID:23757202 PMID:24643514 PMID:24781210 PMID:25741868 PMID:26029707 PMID:26337422 PMID:26467025 PMID:28492532 PMID:29152528 PMID:30255221 PMID:31623504 PMID:32313153, PMID:17664401, PMID:19587282 RGD:11565846, RGD:11565838 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,408,076...11,410,907
Ensembl chr 3:11,408,348...11,410,732
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18487195 PMID:23339110 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,255,118...214,263,848
Ensembl chr 1:214,255,110...214,263,581
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,742,269...11,747,117
Ensembl chr 3:11,742,266...11,747,113
JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,407,072...214,410,069
Ensembl chr 1:214,408,100...214,408,549
JBrowse link
G Cercam cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,421,116...8,444,743
Ensembl chr 3:8,430,829...8,444,851
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,813,575...11,820,549
Ensembl chr 3:11,813,575...11,820,549
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,349,386...8,357,719
Ensembl chr 3:8,349,185...8,357,871
JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 7:120,651,976...120,675,559
Ensembl chr 7:120,651,881...120,672,359
JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:51,883,559...52,120,290
Ensembl chr 3:51,883,559...52,120,290
JBrowse link
G Cyb561d2 cytochrome b561 family, member D2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:116,295,328...116,297,879
Ensembl chr 8:116,295,329...116,297,858
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,587,941...11,590,528
Ensembl chr 3:11,587,941...11,590,528
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,327,992...214,353,466
Ensembl chr 1:214,328,071...214,353,461
JBrowse link
G Fam102a family with sequence similarity 102, member A ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,554,084...11,586,315
Ensembl chr 3:11,554,457...11,586,303
JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,721,100...176,724,736
Ensembl chr 3:176,721,827...176,725,837
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,717,667...11,729,694
Ensembl chr 3:11,717,667...11,723,327
JBrowse link
G Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:29422393 NCBI chr14:39,662,411...39,801,082
Ensembl chr14:39,661,968...39,798,302
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412
JBrowse link
G Gatd1 glutamine amidotransferase like class 1 domain containing 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,389,006...214,394,451
Ensembl chr 1:214,389,255...214,394,411
JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,756,006...176,791,960
Ensembl chr 3:176,753,860...176,791,960
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:26467025 PMID:26485252 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28688840 PMID:28747448 PMID:28817111 PMID:29390993 PMID:32581362 NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
JBrowse link
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,317,328...11,337,569
Ensembl chr 3:11,317,183...11,336,458
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:25741868 PMID:31422819 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
CTD
ClinVar
PMID:20437590 PMID:22131395 PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 PMID:28488083 PMID:28492532 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,730,024...176,744,382
Ensembl chr 3:176,731,769...176,744,377
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,249,388...214,252,909
Ensembl chr 1:214,248,837...214,252,456
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:25741868 NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
JBrowse link
G Kcnh5 potassium voltage-gated channel subfamily H member 5 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532 NCBI chr 6:97,872,831...98,157,087
Ensembl chr 6:97,872,831...98,157,087
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 PMID:9872318 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12742592 PMID:12754513 PMID:14534157 PMID:14985406 PMID:15596469 PMID:16039833 PMID:16199547 PMID:16597729 PMID:16916607 PMID:17475800 PMID:17576681 PMID:17872363 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:19822871 PMID:20119593 PMID:21685056 PMID:21937445 PMID:22013194 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24586341 PMID:24759409 PMID:24811917 PMID:24904429 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25590979 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25951140 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26073431 PMID:26138355 PMID:26148514 PMID:26446091 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26758118 PMID:26993267 PMID:27334371 PMID:27466704 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27781031 PMID:27861786 PMID:27864847 PMID:27888506 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28420012 PMID:28492532 PMID:28602030 PMID:28687180 PMID:28717674 PMID:28867141 PMID:28926830 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29314763 PMID:29390993 PMID:29429461 PMID:29644095 PMID:29655203 PMID:29720203 PMID:29933521 PMID:30109124 PMID:30126342 PMID:30174244 PMID:30185235 PMID:30478917 PMID:31152295 PMID:31199083 PMID:32488064 PMID:32581362 PMID:32860008 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,881,881...176,888,230
Ensembl chr 3:176,882,027...176,884,350
JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,197,126...214,202,828
Ensembl chr 1:214,196,430...214,202,853
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29390993 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,208,355...214,208,464 JBrowse link
G Mir2964 microRNA 2964 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,407,427...8,407,526
Ensembl chr 3:8,407,427...8,407,526
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,476,330...11,482,629
Ensembl chr 3:11,476,883...11,481,744
JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 3:143,017,571...143,063,904
Ensembl chr 3:143,020,454...143,063,983
JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 1:221,792,191...221,908,047
Ensembl chr 1:221,792,221...221,908,049
JBrowse link
G Odf2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,449,733...8,495,764
Ensembl chr 3:8,450,275...8,496,008
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,215,673...214,248,906
Ensembl chr 1:214,215,992...214,248,901
JBrowse link
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28334793 PMID:31139695 PMID:32042915 NCBI chr11:34,592,128...34,598,253
Ensembl chr11:34,592,121...34,598,275
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,592,156...11,597,513
Ensembl chr 3:11,593,655...11,597,410
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
JBrowse link
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr  X:62,382,604...62,698,830
Ensembl chr  X:62,382,608...62,698,830
JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,690,507...176,692,272
Ensembl chr 3:176,691,329...176,692,271
JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,424,195...11,431,379
Ensembl chr 3:11,424,099...11,431,402
JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,698,305...176,706,896
Ensembl chr 3:176,698,305...176,706,896
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,811,303...11,817,007
Ensembl chr 3:11,811,962...11,825,640
JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,202,722...214,205,799
Ensembl chr 1:214,203,861...214,205,782
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar PMID:1868258 PMID:1893099 PMID:9126059 PMID:9536098 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12535936 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15277629 PMID:15508916 PMID:15694566 PMID:16075041 PMID:16199547 PMID:16210358 PMID:16458823 PMID:16541393 PMID:16713913 PMID:16713920 PMID:16865694 PMID:17054684 PMID:17054685 PMID:17129991 PMID:17166794 PMID:17347258 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17679682 PMID:17903680 PMID:18021921 PMID:18056581 PMID:18076640 PMID:18330841 PMID:18413471 PMID:18414213 PMID:18479393 PMID:18554359 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19303743 PMID:19359143 PMID:19400878 PMID:19522081 PMID:19563349 PMID:19585586 PMID:19589774 PMID:19763161 PMID:19782004 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20738378 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21416599 PMID:21425109 PMID:21692795 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21844054 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:23016767 PMID:23086956 PMID:23103419 PMID:23184456 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23934111 PMID:24097157 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24337656 PMID:24472396 PMID:24502503 PMID:24623842 PMID:24656210 PMID:24679980 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25524840 PMID:25576396 PMID:25669891 PMID:25741868 PMID:25818041 PMID:25885068 PMID:26068938 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26252084 PMID:26339958 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27029629 PMID:27066544 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27652284 PMID:27781031 PMID:27864847 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28492532 PMID:28544625 PMID:28708303 PMID:28794249 PMID:28842445 PMID:28951233 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29142202 PMID:29186148 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29739726 PMID:29760947 PMID:29852413 PMID:30146492 PMID:30182498 PMID:30321769 PMID:30525188 PMID:30558019 PMID:30619928 PMID:30659983 PMID:30977726 PMID:31001185 PMID:31009440 PMID:31439038 PMID:31782251 PMID:31791873 PMID:32238909 PMID:32581362 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25568300 PMID:25741868 PMID:25785782 PMID:25849321 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235739 PMID:26297079 PMID:26467025 PMID:26647175 PMID:26900580 PMID:26993267 PMID:27210545 PMID:27779742 PMID:27781031 PMID:27864847 PMID:27875746 PMID:27900360 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28702509 PMID:28735751 PMID:28923014 PMID:29100083 PMID:29121005 PMID:29186148 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:30109124 PMID:30171078 PMID:30615093 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28202706 PMID:28492532 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,264,865...214,277,437
Ensembl chr 1:214,264,754...214,265,668
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,756,427...11,793,547
Ensembl chr 3:11,756,384...11,793,593
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28255779 PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,442,396...11,476,186
Ensembl chr 3:11,442,397...11,452,529
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr  X:15,453,184...15,461,990
Ensembl chr  X:15,453,186...15,461,713
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18414213 PMID:18469812 PMID:22258530 PMID:25224718 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26704558 PMID:26865513 PMID:28166811 PMID:28199897 PMID:28492532 PMID:29264391 PMID:29358611 PMID:29655203 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,709,742...176,716,146
Ensembl chr 3:176,709,743...176,716,146
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar PMID:18414213 PMID:23252400 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,607,103...11,619,595
Ensembl chr 3:11,607,225...11,619,593
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,620,050...11,641,460
Ensembl chr 3:11,629,556...11,641,466
JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,808,016...176,816,108
Ensembl chr 3:176,808,017...176,816,162
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18414213 PMID:18469812 PMID:19557857 PMID:20876469 PMID:20887364 PMID:21762454 PMID:21770924 PMID:22211739 PMID:22495311 PMID:22722545 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25556537 PMID:25693842 PMID:25714420 PMID:25741868 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26648591 PMID:26795593 PMID:26865513 PMID:26918652 PMID:26993267 PMID:27069701 PMID:27171548 PMID:27184330 PMID:27779742 PMID:28133863 PMID:28387360 PMID:28387369 PMID:28492532 PMID:28628100 PMID:28947817 PMID:29186148 PMID:29264391 PMID:29314583 PMID:29896790 PMID:30109124 PMID:31255830 PMID:31474318 PMID:32238909 PMID:32581362 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Swi5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,307,981...11,317,049
Ensembl chr 3:11,307,981...11,317,049
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:10574461 PMID:16855591 PMID:18414213 PMID:20727515 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24848745 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:28072960 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:29100083 PMID:29358611 PMID:29671961 PMID:30108545 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30776697 PMID:31112829 PMID:31257402 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,317,300...214,326,293
Ensembl chr 1:214,317,682...214,326,294
JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,794,731...11,800,261
Ensembl chr 3:11,795,629...11,799,693
JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,989,333...177,009,425
Ensembl chr 3:176,989,672...177,008,419
JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,338,479...8,348,746
Ensembl chr 3:8,338,484...8,348,746
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,799,788...11,811,600
Ensembl chr 3:11,799,612...11,810,901
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 NCBI chr 8:112,578,607...112,594,192
Ensembl chr 8:112,578,590...112,594,261
JBrowse link
G Urm1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,389,024...8,405,868
Ensembl chr 3:8,389,024...8,405,868
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:11572989 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24456803 PMID:25403906 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25741868 PMID:26467025 PMID:27495153 PMID:27569545 PMID:27717089 PMID:27884173 PMID:28492532 PMID:29358611 PMID:29390993 PMID:29675105 PMID:29852413 PMID:29905011 NCBI chr19:46,761,353...47,695,247 JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,888,502...176,959,009
Ensembl chr 3:176,890,806...176,958,880
JBrowse link
G Zgpat zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,865,078...176,881,603
Ensembl chr 3:176,865,156...176,881,549
JBrowse link
developmental and epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:35,151,376...35,200,501 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 severity ISO ClinVar Annotator: match by OMIM:300672
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
DNA:mutations:cds:
ClinVar
OMIM
PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16326141 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17993579 PMID:18063413 PMID:18076117 PMID:18414213 PMID:18564362 PMID:18790821 PMID:18809835 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19362436 PMID:19396824 PMID:19428276 PMID:19471977 PMID:19564592 PMID:19740913 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20397747 PMID:20479760 PMID:20493745 PMID:20602487 PMID:20848651 PMID:21160487 PMID:21293276 PMID:21309761 PMID:21318334 PMID:21482751 PMID:21765152 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22264704 PMID:22430159 PMID:22670135 PMID:22678952 PMID:22779007 PMID:22812903 PMID:22832775 PMID:22867051 PMID:22872100 PMID:22922712 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23184456 PMID:23236174 PMID:23238081 PMID:23242510 PMID:23262346 PMID:23583054 PMID:23647072 PMID:23828526 PMID:23934111 PMID:24500651 PMID:24564546 PMID:24715584 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26467025 PMID:26482601 PMID:27081548 PMID:27187038 PMID:27848944 PMID:28492532 PMID:28837158 PMID:29190809 PMID:29264392 PMID:29390993 PMID:29420175 PMID:29444904 PMID:29655203 PMID:30776697 PMID:31492455 PMID:31780880 PMID:31791873, PMID:22678952 RGD:12791015 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,731,891...34,794,589
Ensembl chr  X:34,731,891...34,794,589
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
ClinVar PMID:15499549 PMID:16813600 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:23184456 PMID:23242510 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29655203 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,676,728...34,694,251 JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:35,305,235...35,431,271
Ensembl chr  X:35,305,236...35,431,164
JBrowse link
developmental and epileptic encephalopathy 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77
ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77
OMIM
ClinVar
PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:27513193 PMID:28492532 PMID:31148362 PMID:32588908 NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
JBrowse link
developmental delay and seizures with or without movement abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES ClinVar
OMIM
PMID:25741868 PMID:29100083 NCBI chr 5:152,200,681...152,227,669
Ensembl chr 5:152,199,584...152,227,677
JBrowse link
Dyskinesias, Seizures, and Intellectual Developmental Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar
PMID:11690625 PMID:24668509 PMID:25741868 PMID:26048982 PMID:26795593 PMID:26834045 PMID:28940898 PMID:30923367 PMID:31688097 PMID:31929336 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
JBrowse link
EAST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: EAST syndrome
ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy
ClinVar Annotator: match by term: SeSAME syndrome
DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human)
ClinVar Annotator: match by OMIM:612780
OMIM
ClinVar
PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 PMID:21458570 PMID:21849804 PMID:22612257 PMID:23869231 PMID:23918157 PMID:23924083 PMID:23965030 PMID:24378235 PMID:24860705 PMID:25372295 PMID:25741868 PMID:26467025 PMID:27171548 PMID:27182706 PMID:27535533 PMID:27677466 PMID:27875746 PMID:27884173 PMID:28492532 PMID:28747464 PMID:29615871 PMID:30304693 PMID:32062759 PMID:32233732 PMID:32581362, PMID:19420365 RGD:8662866 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
Experimental Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO RGD PMID:21925531 RGD:13838850 NCBI chr 7:70,360,199...70,377,422
Ensembl chr 7:70,364,813...70,377,422
JBrowse link
G Becn1 beclin 1 treatment IEP RGD PMID:23994218 RGD:11561923 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Dmd dystrophin IEP RGD PMID:9539217 RGD:12880363 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment IEP RGD PMID:22038365 RGD:10401935 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 IEP protein:decreased expression:dentate gyrus, hippocampus CA1, cerebral cortex (rat) RGD PMID:23200899 RGD:10003135 NCBI chr 8:97,277,250...97,405,095
Ensembl chr 8:97,277,456...97,405,102
JBrowse link
G Rgs10 regulator of G-protein signaling 10 IEP RGD PMID:12358788 RGD:13524540 NCBI chr 1:199,782,076...199,823,440
Ensembl chr 1:199,782,078...199,823,386
JBrowse link
G Rgs4 regulator of G-protein signaling 4 IEP RGD PMID:12358788 RGD:13524540 NCBI chr13:88,054,817...88,061,108
Ensembl chr13:88,054,817...88,061,108
JBrowse link
G Rgs7 regulator of G-protein signaling 7 IEP RGD PMID:12358788 RGD:13524540 NCBI chr13:93,095,659...93,534,452
Ensembl chr13:93,095,200...93,307,199
JBrowse link
G Rgs8 regulator of G-protein signaling 8 IEP RGD PMID:12358788 RGD:13524540 NCBI chr13:71,086,654...71,141,820
Ensembl chr13:71,086,745...71,141,075
JBrowse link
G Sv2a synaptic vesicle glycoprotein 2a IMP DNA:mutation:cds:p.L174Q(rat) RGD PMID:27265781 RGD:12792961 NCBI chr 2:198,321,100...198,336,889
Ensembl chr 2:198,321,142...198,336,913
JBrowse link
G Sv2am1Kyo synaptic vesicle glycoprotein 2a; ENU induced mutant 1, Kyo, IMP RGD PMID:27265781 RGD:12792961
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 IEP protein:increased expression:hippocampus RGD PMID:15730530 RGD:2303356 NCBI chr17:35,677,984...35,682,262
Ensembl chr17:35,677,984...35,682,259
JBrowse link
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mvp major vault protein ISO ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr 1:198,420,813...198,448,612
Ensembl chr 1:198,420,806...198,450,047
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial
ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22623405 PMID:22744660 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23299620 PMID:23352743 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24465263 PMID:24661410 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:26467025 PMID:26598493 PMID:27173777 PMID:28074849 PMID:28492532 PMID:29334453 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lias lipoic acid synthetase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
ClinVar Annotator: match by OMIM:614462
OMIM
ClinVar
PMID:2152680 PMID:22152680 PMID:24334290 PMID:25741868 PMID:26467025 PMID:27923773 PMID:28492532 NCBI chr14:44,507,217...44,524,287
Ensembl chr14:44,507,218...44,524,252
JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,524,419...44,527,613
Ensembl chr14:44,524,416...44,527,613
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
JBrowse link
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:614300
OMIM
ClinVar
CTD
PMID:21963049 PMID:25741868 PMID:26975589 PMID:28492532 NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
JBrowse link
Hypomagnesemia, Seizures, and Mental Retardation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hypomagnesemia, seizures, and mental retardation 1 OMIM
ClinVar
PMID:24699222 PMID:25741868 NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link
Hypomagnesemia, Seizures, and Mental Retardation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2
ClinVar Annotator: match by term: Hypomagnesemia, seizures, and mental retardation 2
ClinVar
OMIM
PMID:25741868 PMID:30388404 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
hypoparathyroidism-retardation-dysmorphism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism retardation dysmorphism syndrome
ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
ClinVar PMID:25741868 PMID:28492532 NCBI chr17:54,027,859...54,070,399
Ensembl chr17:54,027,859...54,070,399
JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Hypoparathyroidism retardation dysmorphism syndrome
ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay
ClinVar Annotator: match by OMIM:241410
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12389028 PMID:16938882 PMID:25097779 PMID:25741868 PMID:26336027 PMID:28492532 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy
ClinVar Annotator: match by OMIM:613668
OMIM
ClinVar
PMID:18414213 PMID:20950787 PMID:25741868 PMID:28492532 NCBI chr 8:13,522,257...13,835,302
Ensembl chr 8:13,819,563...13,835,168
JBrowse link
infantile or early childhood epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 1
ClinVar
OMIM
PMID:8052858 PMID:8524402 PMID:25262651 PMID:25741868 PMID:28942967 PMID:29432562 PMID:32238909 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
JBrowse link
infantile or early childhood epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 2
ClinVar
OMIM
PMID:25124326 PMID:25741868 PMID:27789573 PMID:28492532 PMID:29100083 NCBI chr10:27,973,694...28,193,072
Ensembl chr10:27,973,681...28,187,565
JBrowse link
Infantile or Early Childhood Epileptic Encephalopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1a ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 3
ClinVar
OMIM
PMID:23334411 PMID:25741868 PMID:29668857 NCBI chr11:61,531,386...61,584,634
Ensembl chr11:61,531,416...61,584,634
JBrowse link
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud6b OTU deubiquitinase 6B ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies ClinVar
OMIM
PMID:25741868 PMID:28343629 NCBI chr 5:28,333,019...28,350,093
Ensembl chr 5:28,333,019...28,349,927
JBrowse link
microcephaly, seizures, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10
ClinVar Annotator: match by term: Microcephaly, seizures and developmental delay
ClinVar Annotator: match by OMIM:613402
OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:23708187 PMID:24033266 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27232581 PMID:28492532 PMID:29261713 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31167812 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rttn rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures
ClinVar Annotator: match by term: Polymicrogyria with seizures
ClinVar Annotator: match by OMIM:614833
OMIM
ClinVar
PMID:22939636 PMID:25326635 PMID:25741868 PMID:26608784 PMID:26940245 PMID:28492532 PMID:30121372 NCBI chr18:86,071,884...86,247,486
Ensembl chr18:86,071,662...86,247,486
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:24033266 PMID:26394714 PMID:28492532 NCBI chr13:25,510,593...25,662,943
Ensembl chr13:25,513,892...25,652,473
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar Annotator: match by OMIM:614080
OMIM
ClinVar
PMID:21493957 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 PMID:26394714 PMID:26419326 PMID:26467025 PMID:26539891 PMID:26633542 PMID:26879448 PMID:26964041 PMID:27038415 PMID:28273706 PMID:28327575 PMID:28492532 PMID:29096607 PMID:29330547 PMID:32860008 NCBI chr13:25,510,593...25,662,943
Ensembl chr13:25,513,892...25,652,473
JBrowse link
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr13:25,656,983...25,752,792
Ensembl chr13:25,656,983...25,752,792
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar Annotator: match by OMIM:300868
OMIM
ClinVar
PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 PMID:10087994 PMID:15307104 PMID:22305531 PMID:24259184 PMID:24259288 PMID:24357517 PMID:24706016 PMID:24759409 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26545172 PMID:28441409 PMID:28492532 PMID:29310717 PMID:29656098 NCBI chr  X:31,786,823...31,799,751
Ensembl chr  X:31,786,194...31,799,560
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3
ClinVar Annotator: match by term: PIGT-related disorder
ClinVar Annotator: match by OMIM:615398
OMIM
ClinVar
PMID:23636107 PMID:24906948 PMID:25741868 PMID:25943031 PMID:27916860 PMID:28492532 PMID:28728837 PMID:30976099 PMID:32581362 NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739
JBrowse link
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES ClinVar
OMIM
PMID:25741868 PMID:32220291 NCBI chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar
OMIM
PMID:23545411 PMID:25741868 PMID:27389779 PMID:29807643 NCBI chr 9:60,451,476...60,843,160
Ensembl chr 9:60,457,215...60,672,246
JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr 3:7,742,511...7,800,834
Ensembl chr 3:7,742,531...7,796,385
JBrowse link
Occipital Cortical Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Cortical malformations, occipital
ClinVar Annotator: match by OMIM:614115
OMIM
ClinVar
PMID:21572413 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 3:9,265,407...9,327,107
Ensembl chr 3:9,267,122...9,326,993
JBrowse link
optic atrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Optic atrophy 10
ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures
ClinVar
OMIM
PMID:26593267 PMID:29181510 NCBI chr20:48,881,124...48,924,921
Ensembl chr20:48,881,194...48,925,081
JBrowse link
Partington syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 36
ClinVar Annotator: match by term: Partington X-linked mental retardation syndrome
DNA:duplication:exon:c.428-451dup (human)
OMIM
ClinVar
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12640086 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:17331656 PMID:17480217 PMID:20506206 PMID:21204215 PMID:25741868 PMID:26029707 PMID:28492532, PMID:24528893 RGD:11565843 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
PHGDH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH DEFICIENCY ClinVar NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency
ClinVar Annotator: match by OMIM:601815
OMIM
ClinVar
PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 PMID:19235232 PMID:22393170 PMID:22886422 PMID:24836451 PMID:25741868 PMID:26467025 PMID:26960553 PMID:28135894 PMID:28492532 NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
JBrowse link
Primary Aldosteronism, Seizures, and Neurologic Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities
ClinVar Annotator: match by OMIM:615474
OMIM
ClinVar
PMID:23913001 PMID:25741868 NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
JBrowse link
PSAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Phosphoserine aminotransferase deficiency
ClinVar Annotator: match by OMIM:610992
OMIM
ClinVar
PMID:17436247 PMID:25741868 PMID:28492532 PMID:32077105 NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
JBrowse link
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal
ClinVar Annotator: match by OMIM:614498
OMIM
ClinVar
PMID:16452482 PMID:22279524 PMID:23035047 PMID:25319849 PMID:25500575 PMID:25741868 PMID:26467025 PMID:26483087 PMID:26494257 PMID:26535877 PMID:26947546 PMID:26964041 PMID:27282546 PMID:27282648 PMID:27480663 PMID:28492532 PMID:28752061 PMID:29375859 PMID:29390993 PMID:29431110 PMID:30346566 NCBI chr12:16,016,062...16,028,534
Ensembl chr12:16,015,771...16,027,881
JBrowse link
Seizures, Cortical Blindness, and Microcephaly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar Annotator: match by term: SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME
ClinVar PMID:24781755 PMID:25558065 PMID:25741868 PMID:26463574 NCBI chr18:30,972,907...31,071,371
Ensembl chr18:30,972,907...31,071,371
JBrowse link
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures
ClinVar
OMIM
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 NCBI chr19:38,189,605...38,237,155
Ensembl chr19:38,189,605...38,237,308
JBrowse link
Smith-Kingsmore Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar
PMID:23636326 PMID:24631838 PMID:25741868 PMID:25851998 PMID:26542245 PMID:26619011 PMID:27159400 PMID:27279227 PMID:27513193 PMID:27753196 PMID:27830187 PMID:28475857 PMID:28492532 PMID:28554332 PMID:32581362 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects ClinVar
OMIM
PMID:10980529 PMID:11477212 PMID:12325075 PMID:15180870 PMID:16949238 PMID:17052934 PMID:18606970 PMID:19798636 PMID:20129935 PMID:20417043 PMID:21069159 PMID:21135204 PMID:21555602 PMID:21791420 PMID:21832227 PMID:23280796 PMID:23340081 PMID:23448551 PMID:25108116 PMID:25326635 PMID:25487684 PMID:25564316 PMID:25741868 PMID:25982116 PMID:26216499 PMID:26537434 PMID:26598494 PMID:28116237 PMID:28492532 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Pettigrew syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mental retardation X-linked syndromic 5
ClinVar Annotator: match by OMIM:304340
OMIM
ClinVar
CTD
PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 PMID:17617514 PMID:18414213 PMID:23756445 PMID:25741868 NCBI chr  X:32,329,883...32,376,301
Ensembl chr  X:32,329,598...32,355,307
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:124,831,391...124,870,329
Ensembl chr  X:124,832,628...124,870,329
JBrowse link
visual epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase treatment IMP
ISO
IDA
CTD Direct Evidence: marker/mechanism CTD PMID:10407778, PMID:20109543, PMID:21935729, PMID:2753001 RGD:9588535, RGD:10047087, RGD:10047056 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A IEP
ISO
Audiogenic Seizures;mRNA:increased expression:cerebral cortex, midbrain (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:17437408, PMID:12423380 RGD:8657333 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 treatment ISO
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:16504477, PMID:12663688 RGD:704399 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcc8 ATP binding cassette subfamily C member 8 IEP mRNA, protein:altered expression:dentate gyrus RGD PMID:18021373 RGD:2301911 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:17945527 PMID:20547083 PMID:28492532 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266720 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:19941057 PMID:27083141 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Acot8 acyl-CoA thioesterase 8 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:161,260,837...161,272,495
Ensembl chr 3:161,259,735...161,272,460
JBrowse link
G Acp2 acid phosphatase 2, lysosomal ISO RGD PMID:9228031 RGD:1300245 NCBI chr 3:80,020,346...80,030,365
Ensembl chr 3:80,021,440...80,030,363
JBrowse link
G Actl6b actin-like 6B ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr12:22,194,595...22,211,107
Ensembl chr12:22,194,618...22,211,080
JBrowse link
G Actr5 actin related protein 5 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:155,118,567...155,132,073
Ensembl chr 3:155,119,042...155,131,829
JBrowse link
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G Adam22 ADAM metallopeptidase domain 22 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 4:22,864,485...23,002,969
Ensembl chr 4:22,859,622...22,996,645
JBrowse link
G Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 IEP mRNA:increased expression:hippocampus, temporal lobe RGD PMID:12379262 RGD:1566572 NCBI chr11:25,342,119...25,350,938
Ensembl chr11:25,342,126...25,350,974
JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO RGD PMID:10894545 RGD:1300255 NCBI chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29673861 NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
JBrowse link
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr19:10,423,534...10,460,674
Ensembl chr19:10,423,501...10,460,674
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:18414213 PMID:24033266 PMID:28492532 NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
JBrowse link
G Adig adipogenin ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:153,946,828...153,952,269
Ensembl chr 3:153,949,215...153,952,108
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with metabolic syndrome X; RGD PMID:21976521 RGD:5686407 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19488739 NCBI chr20:14,265,251...14,282,873
Ensembl chr20:14,265,252...14,282,873
JBrowse link
G Adra1b adrenoceptor alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19125850 NCBI chr10:29,392,762...29,450,644
Ensembl chr10:29,392,762...29,450,644
JBrowse link
G Adra2b adrenoceptor alpha 2B ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:119,805,941...119,809,987
Ensembl chr 3:119,805,941...119,809,987
JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16771832 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Aif1 allograft inflammatory factor 1 IEP protein:increased expression:brain (rat) RGD PMID:16635480 RGD:2313039 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
JBrowse link
G Alad aminolevulinate dehydratase IEP
ISO
protein:decreased activity:brain, liver (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:19798568, PMID:17320826 RGD:4144168 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 PMID:17721876 PMID:18717709 PMID:19128417 PMID:20370816 PMID:22371912 PMID:22784480 PMID:23022070 PMID:23054014 PMID:23350806 PMID:23430810 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26101365 PMID:26224730 PMID:26232297 PMID:26467025 PMID:28492532 PMID:29056246 NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:23033978 PMID:23934111 PMID:24781210 PMID:24896178 PMID:25732998 PMID:25741868 PMID:26138355 PMID:26482601 PMID:28492532 PMID:28940310 PMID:32238909 PMID:32681751 NCBI chr  X:115,561,329...115,589,792
Ensembl chr  X:115,561,332...115,619,505
JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr11:83,985,484...83,991,706
Ensembl chr11:83,986,230...83,991,706
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:7550313 PMID:27466191 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
JBrowse link
G Amy1a amylase, alpha 1A ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:216,428,709...216,443,518
Ensembl chr 2:216,428,709...216,443,518
JBrowse link
G Ankh ANKH inorganic pyrophosphate transport regulator IEP RGD PMID:12861042 RGD:634632 NCBI chr 2:80,131,563...80,256,948
Ensembl chr 2:80,131,563...80,256,954
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:143,284,041...143,315,846
Ensembl chr 1:143,283,996...143,315,633
JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 IDA protein:increased activity:hippocampus RGD PMID:11753565 RGD:2325750 NCBI chr 7:31,699,309...31,784,192
Ensembl chr 7:31,699,885...31,784,192
JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 7:12,258,468...12,280,459
Ensembl chr 7:12,258,468...12,275,609
JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 IEP
ISO
protein:increased expression:neuron
CTD Direct Evidence: marker/mechanism
CTD PMID:20446108, PMID:15854596 RGD:2302852 NCBI chr15:27,849,943...27,852,083
Ensembl chr15:27,849,979...27,852,082
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266720 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G App amyloid beta precursor protein ISO associated with Alzheimer Disease; RGD PMID:25879152 RGD:10054263 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Arc activity-regulated cytoskeleton-associated protein IEP RGD PMID:23744421 RGD:10395306 NCBI chr 7:115,907,097...115,911,059
Ensembl chr 7:115,907,097...115,910,541
JBrowse link
G Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 5:8,666,046...8,760,458
Ensembl chr 5:8,666,200...8,760,458
JBrowse link
G Arhgap40 Rho GTPase activating protein 40 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:154,996,685...155,042,199
Ensembl chr 3:154,996,750...155,041,816
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:15057123 PMID:22405089 PMID:25741868 PMID:27474218 PMID:28323383 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Arpin actin-related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:141,664,790...141,672,789
Ensembl chr 1:141,662,850...141,672,810
JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:70,438,590...70,452,140
Ensembl chr  X:70,438,617...70,452,067
JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:34,894,419...34,909,265
Ensembl chr20:34,894,419...34,909,265
JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:188,252,592...188,389,251
Ensembl chr 2:188,253,220...188,389,250
JBrowse link
G Asic1 acid sensing ion channel subunit 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 7:141,324,714...141,354,937
Ensembl chr 7:141,326,321...141,354,937
JBrowse link
G Aspm assembly factor for spindle microtubules susceptibility ISO RGD PMID:16141009 RGD:1599300 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:22842232 PMID:25741868 PMID:26297560 PMID:26410222 PMID:28492532 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit C ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr10:13,537,031...13,543,407
Ensembl chr10:13,537,033...13,542,077
JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:103,980,612...104,117,193
Ensembl chr 3:104,042,168...104,117,192
JBrowse link
G Bad BCL2-associated agonist of cell death IEP protein:decreased phosphorylation:hippocampus RGD PMID:15968425 RGD:2292693 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bag3 BAG cochaperone 3 IEP protein:increased expression:hippocampus, astrocyte RGD PMID:12085992 RGD:2325847 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: therapeutic CTD PMID:8667461 PMID:18597747 PMID:20971807 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bckdk branched chain ketoacid dehydrogenase kinase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:26467025 PMID:28492532 NCBI chr 1:199,351,628...199,356,299
Ensembl chr 1:199,351,628...199,356,881
JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:135,187,468...135,233,859
Ensembl chr  X:135,187,468...135,233,839
JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9073163 PMID:15781040 PMID:21269288 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Bet1 Bet1 golgi vesicular membrane trafficking protein ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 4:29,082,368...29,092,638
Ensembl chr 4:29,082,365...29,092,753
JBrowse link
G Bex3 brain expressed X-linked 3 treatment IEP RGD PMID:12873743 RGD:9743975 NCBI chr  X:106,823,442...106,825,016
Ensembl chr  X:106,823,491...106,825,014
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 PMID:30054298 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
JBrowse link
G Blcap BLCAP, apoptosis inducing factor ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:154,040,165...154,042,096
Ensembl chr 3:154,040,166...154,042,099
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:12358323 PMID:25741868 NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
JBrowse link
G Bpi bactericidal/permeability-increasing protein ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:154,741,627...154,768,584
Ensembl chr 3:154,741,631...154,768,640
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:10923033 PMID:18779604 PMID:25741868 PMID:26467025 PMID:27425403 PMID:27741520 PMID:28087643 PMID:28492532 PMID:29161300 PMID:29907814 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brd1 bromodomain containing 1 IEP RGD PMID:22675730 RGD:9586108 NCBI chr 7:129,676,119...129,724,303
Ensembl chr 7:129,676,120...129,724,303
JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 4:145,264,445...145,280,943
Ensembl chr 4:145,264,462...145,280,857
JBrowse link
G C7 complement C7 IDA Protein:increased activity:brain RGD PMID:12574424 RGD:1599523 NCBI chr 2:54,707,621...54,781,624
Ensembl chr 2:54,709,138...54,777,729
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:9060410 RGD:10054423 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:15,706,974...16,130,848
Ensembl chr 4:15,710,417...16,130,848
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 7:119,228,112...119,353,332
Ensembl chr 7:119,228,102...119,352,605
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Calhm4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:27,573,809...27,578,269
Ensembl chr20:27,575,533...27,578,244
JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:27,651,817...27,673,817
Ensembl chr20:27,651,312...27,657,983
JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:27,681,138...27,683,580
Ensembl chr20:27,681,036...27,682,861
JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 5:168,138,207...169,017,295
Ensembl chr 5:168,141,372...169,017,295
JBrowse link
G Casp1 caspase 1 IMP RGD PMID:16886979 RGD:2315919 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:18096215 PMID:19616071 PMID:20592767 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: therapeutic CTD PMID:6265841 NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP protein:increased expression:hippocampus, vasculature (rat) RGD PMID:20940264 RGD:4889880 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccn5 cellular communication network factor 5 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:160,207,969...160,219,316
Ensembl chr 3:160,207,913...160,219,331
JBrowse link
G Ccnb1 cyclin B1 IEP protein:increased expression:hippocampus CA1, neuron RGD PMID:16242239 RGD:2315994 NCBI chr 2:30,782,133...30,791,106
Ensembl chr 2:30,783,915...30,791,221
JBrowse link
G Ccnd1 cyclin D1 IEP protein:increased expression:hippocampus, cerebral cortex RGD PMID:16696308 RGD:2289147 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 resistance IMP RGD PMID:20940264 RGD:4889880 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd36 CD36 molecule ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cdh22 cadherin 22 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:161,574,993...161,971,102
Ensembl chr 3:161,575,631...161,917,285
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 5:173,051,900...173,078,049
Ensembl chr 5:173,052,063...173,078,046
JBrowse link
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr17:49,833,194...49,922,932
Ensembl chr17:49,833,400...49,921,550
JBrowse link
G Cdk20 cyclin-dependent kinase 20 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr17:1,935,900...1,942,867
Ensembl chr17:1,936,163...1,942,865
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
DNA:deletion, missense, nonsense mutations:cds:
CTD
ClinVar
PMID:22264704 PMID:25741868, PMID:22264704 RGD:12791013 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Chat choline O-acetyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19941057 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr10:55,943,467...55,970,417
Ensembl chr10:55,943,446...55,965,216
JBrowse link
G Chd6 chromodomain helicase DNA binding protein 6 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:156,937,746...157,099,328
Ensembl chr 3:156,937,733...157,099,306
JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 7:130,404,818...130,408,813
Ensembl chr 7:130,404,832...130,408,187
JBrowse link
G Chl1 cell adhesion molecule L1-like ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 4:70,269,414...70,331,313
Ensembl chr 4:70,252,366...70,330,803
JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8028781 PMID:10069499 PMID:11392617 PMID:12091480 PMID:12713643 NCBI chr 1:224,869,087...224,885,101
Ensembl chr 1:224,882,439...224,884,205
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:24950454 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:42,808,897...42,825,179
Ensembl chr15:42,808,897...42,825,179
JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:15275829, PMID:15469883 RGD:1599607 NCBI chr 8:59,594,007...59,607,122
Ensembl chr 8:59,592,403...59,607,275
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:10563623 PMID:10643924 PMID:10939581 PMID:10942032 PMID:11904236 PMID:12887446 PMID:14623738 PMID:15154117 PMID:16339034 PMID:18414213 PMID:19020039 PMID:19058950 PMID:19237585 PMID:19628475 PMID:21107856 PMID:21683344 PMID:21753767 PMID:22036597 PMID:22118295 PMID:22873564 PMID:22883468 PMID:24385388 PMID:25741868 PMID:26467025 PMID:26561946 PMID:28492532 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:9495872 PMID:14996991 NCBI chr 8:59,561,817...59,590,172
Ensembl chr 8:59,561,721...59,590,172
JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:9495872 PMID:10565853 PMID:10942032 PMID:11893908 PMID:14996991 NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Generalized seizures
ClinVar Annotator: match by term: Seizures
ClinVar PMID:11906688 PMID:18414213 PMID:20736995 PMID:21703448 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14996991 PMID:15275829 NCBI chr 8:59,610,489...59,629,073
Ensembl chr 8:59,609,693...59,629,133
JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:82,135,440...82,163,007
Ensembl chr 1:82,151,669...82,163,005
JBrowse link
G Cilk1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 8:85,413,998...85,473,374
Ensembl chr 8:85,413,537...85,472,694
JBrowse link
G Cinp cyclin-dependent kinase 2-interacting protein ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:26539891 NCBI chr 6:135,290,528...135,304,422
Ensembl chr 6:135,290,530...135,304,422
JBrowse link
G Cit citron rho-interacting serine/threonine kinase ISO
IAGP
RGD PMID:11086988, PMID:10219263 RGD:734780, RGD:13204836 NCBI chr12:46,334,669...46,494,152
Ensembl chr12:46,334,665...46,494,174
JBrowse link
G CitfhJjlo citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo IAGP RGD PMID:10219263 RGD:13204836
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:17762171 PMID:28492532 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
JBrowse link
G Clcn4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:25,016,177...25,082,563
Ensembl chr  X:25,016,401...25,080,410
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9662406 PMID:18414213 PMID:20157158 PMID:21990111 PMID:22727047 PMID:23374165 PMID:24767253 PMID:25741868 PMID:26467025 PMID:26990548 PMID:27069701 PMID:27533158 PMID:27884173 PMID:28492532 NCBI chr15:93,634,815...93,644,146 JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:11727201 PMID:11791207 PMID:12815591 PMID:14997940 PMID:15265688 PMID:21359198 PMID:21549341 PMID:21990111 PMID:25359263 PMID:25741868 PMID:26075876 PMID:26467025 PMID:27535533 PMID:28492532 PMID:30019023 PMID:30285654 NCBI chr 8:67,733,215...67,748,170
Ensembl chr 8:67,733,215...67,748,172
JBrowse link
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:21990111 PMID:25741868 PMID:26467025 PMID:26657971 PMID:28454995 PMID:28492532 PMID:29503925 NCBI chr16:79,828,321...79,838,212
Ensembl chr16:79,828,324...79,838,212
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266720 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Clvs2 clavesin 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:25,173,089...25,217,625
Ensembl chr 1:25,173,242...25,296,927
JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23027747 NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr19:9,668,186...9,761,605
Ensembl chr19:9,668,186...9,761,605
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12954810 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Cntn2 contactin 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr13:49,280,913...49,314,061
Ensembl chr13:49,285,310...49,313,940
JBrowse link
G Cntnap2 contactin associated protein 2 ISO
IMP
ClinVar Annotator: match by term: Seizure
DNA:deletions:
ClinVar PMID:25741868, PMID:19896112, PMID:28364455, PMID:28364455 RGD:13450912, RGD:12880397, RGD:12880397 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Cntnap2em1Sage contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:28364455 RGD:12880397
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 PMID:28492532 PMID:28761347 PMID:29358611 PMID:32581362 NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
JBrowse link
G Cplx1 complexin 1 ISO RGD PMID:11163241 RGD:734813 NCBI chr14:2,194,895...2,226,610
Ensembl chr14:2,194,933...2,226,598
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:8682496 PMID:9600456 PMID:12673791 PMID:17709715 PMID:18363739 PMID:21227726 PMID:22854105 PMID:23700290 PMID:25741868 PMID:25919294 PMID:28492532 PMID:28516040 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:1596084 PMID:1700951 PMID:1914160 PMID:7821275 PMID:8923670 PMID:11074187 PMID:22984453 PMID:23593457 PMID:24395520 PMID:26467025 PMID:28492532 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Cstb cystatin B IEP
ISO
mRNA, protein:increased expression:brain
ClinVar Annotator: match by term: Seizures
ClinVar PMID:25741868 PMID:28492532, PMID:10792446 RGD:729930 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Ctnnbl1 catenin, beta like 1 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:154,212,245...154,373,170
Ensembl chr 3:154,212,202...154,373,169
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Focal seizures
ClinVar Annotator: match by term: Seizures
ClinVar PMID:32581362 NCBI chr 3:161,298,750...161,304,627
Ensembl chr 3:161,298,962...161,304,625
JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10218883 PMID:16670177 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:17828264 PMID:25741868 PMID:26467025 PMID:27120077 PMID:28492532 NCBI chr 1:220,114,228...220,119,976
Ensembl chr 1:220,114,228...220,119,976
JBrowse link
G Ctss cathepsin S ISO protein:increased expression:hippocampus CA1, microglial cell RGD PMID:17997037 RGD:5686910 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Cyfip2 cytoplasmic FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:21107423 PMID:25741868 PMID:26582918 PMID:29534297 PMID:30664714 NCBI chr10:31,278,746...31,419,235
Ensembl chr10:31,278,746...31,419,235
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19125849 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:236,414,131...236,431,650
Ensembl chr 2:236,414,135...236,431,683
JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 9:100,956,570...100,974,393
Ensembl chr 9:100,956,477...100,974,551
JBrowse link
G Daam1 dishevelled associated activator of morphogenesis 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 6:94,606,675...94,739,026
Ensembl chr 6:94,636,222...94,739,026
JBrowse link
G Dbndd2 dysbindin domain containing 2 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:160,933,833...160,938,468
Ensembl chr 3:160,935,709...160,938,467
JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:33,359,062...33,455,161
Ensembl chr20:33,359,196...33,453,766
JBrowse link
G Dcx doublecortin onset ISO
IMP
associated with Subcortical Band Heterotopia, X-Linked RGD PMID:18575605, PMID:20164125 RGD:12904723, RGD:12904732 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Ddx54 DEAD-box helicase 54 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:31256877 NCBI chr12:41,469,642...41,484,887
Ensembl chr12:41,470,557...41,485,122
JBrowse link
G Dennd5a DENN domain containing 5A ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:27431290 PMID:27866705 NCBI chr 1:174,524,047...174,588,553
Ensembl chr 1:174,524,047...174,588,529
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:14510823 PMID:20864493 PMID:23542697 PMID:23869883 PMID:24283814 PMID:25366275 PMID:25599672 PMID:25741868 PMID:26000329 PMID:26467025 PMID:26505888 PMID:27066554 PMID:28102150 PMID:28492532 PMID:28717674 PMID:29356177 PMID:29358611 NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 5:152,200,681...152,227,669
Ensembl chr 5:152,199,584...152,227,677
JBrowse link
G Dhx16 DEAH-box helicase 16 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:31256877 NCBI chr20:3,368,971...3,386,087
Ensembl chr20:3,367,150...3,386,106
JBrowse link
G Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:29100085 NCBI chr 8:118,160,315...118,194,674
Ensembl chr 8:118,160,299...118,187,791
JBrowse link
G Dhx34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:31256877 NCBI chr 1:78,069,260...78,112,488
Ensembl chr 1:78,090,044...78,112,488
JBrowse link
G Dhx35 DEAH-box helicase 35 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:155,297,545...155,354,857
Ensembl chr 3:155,297,566...155,356,462
JBrowse link
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:31256877 NCBI chr12:36,594,058...36,614,165
Ensembl chr12:36,594,047...36,614,210
JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:4,083,797...4,091,550
Ensembl chr 3:4,083,864...4,092,289
JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 IMP RGD PMID:17437412 RGD:6907384 NCBI chr 1:248,952,896...248,956,579
Ensembl chr 1:248,895,738...248,898,607
JBrowse link
G Dlg3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:70,596,246...70,648,529
Ensembl chr  X:70,596,576...70,648,532
JBrowse link
G Dlgap4 DLG associated protein 4 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:152,752,091...152,846,118
Ensembl chr 3:152,752,091...152,846,118
JBrowse link
G Dmtf1 cyclin D binding myb-like transcription factor 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:21,862,297...21,902,798
Ensembl chr 4:21,862,313...21,902,762
JBrowse link
G Dnah7 dynein, axonemal, heavy chain 7 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 9:60,070,087...60,330,121
NCBI chr 9:59,564,253...59,595,347
Ensembl chr 9:60,070,739...60,330,125
Ensembl chr 9:60,070,739...60,330,125
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
JBrowse link
G Dnttip1 deoxynucleotidyltransferase, terminal, interacting protein 1 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:161,212,156...161,235,749
Ensembl chr 3:161,212,156...161,236,121
JBrowse link
G Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 5:117,595,194...117,780,844
Ensembl chr 5:117,596,136...117,780,777
JBrowse link
G Dph5 diphthamide biosynthesis 5 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:218,834,034...218,866,763
Ensembl chr 2:218,834,034...218,866,761
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:29065426 PMID:29134491 PMID:29152729 PMID:30348537 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Drd1 dopamine receptor D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1451735 PMID:1829682 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1829682 PMID:7936204 PMID:11860278 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Drd3 dopamine receptor D3 IEP
ISO
mRNA, increased expression:accumbens nucleus
CTD Direct Evidence: therapeutic
CTD PMID:18566292, PMID:11597777 RGD:5686415 NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:27,703,738...27,784,982
Ensembl chr20:27,703,732...27,782,586
JBrowse link
G Dsn1 DSN1 component of MIS12 kinetochore complex ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:153,101,020...153,115,326
Ensembl chr 3:153,101,036...153,114,520
JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP protein:increased expression:brain RGD PMID:8883936, PMID:8626780 RGD:2298690, RGD:728656 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Dusp6 dual specificity phosphatase 6 IEP mRNA:increased expression:brain RGD PMID:15496935, PMID:8626780 RGD:2316089, RGD:728656 NCBI chr 7:41,475,163...41,479,393
Ensembl chr 7:41,475,163...41,479,392
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:18414213 PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 PMID:25944381 PMID:28053047 PMID:28191890 PMID:28492532 PMID:29034068 PMID:32581362 NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:26467025 PMID:28492532 NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
JBrowse link
G Eef1b2 eukaryotic translation elongation factor 1 beta 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 9:69,953,440...69,956,158
Ensembl chr 9:69,953,440...69,956,160
JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:4,034,759...4,044,280
Ensembl chr 3:4,034,921...4,043,936
JBrowse link
G Egr1 early growth response 1 IEP RGD PMID:23744421 RGD:10395306 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr12:37,444,136...37,452,391
Ensembl chr12:37,444,072...37,465,398
JBrowse link
G Elapor2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:21,563,848...21,757,668
Ensembl chr 4:21,584,369...21,668,570
JBrowse link
G Elmo2 engulfment and cell motility 2 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:161,812,474...161,850,006
Ensembl chr 3:161,812,474...162,003,588
JBrowse link
G Emilin3 elastin microfibril interfacer 3 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:156,899,892...156,906,566
Ensembl chr 3:156,901,077...156,905,892
JBrowse link
G Emx2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:280,633,938...280,640,946
Ensembl chr 1:280,633,938...280,640,946
JBrowse link
G Endog endonuclease G IEP RGD PMID:20077427 RGD:9685392 NCBI chr 3:8,741,833...8,744,414
Ensembl chr 3:8,741,766...8,744,592
JBrowse link
G Eno2 enolase 2 IEP protein:altered expression:cerebrospinal fluid RGD PMID:15464860 RGD:5509052 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:11735300 PMID:14706656 PMID:16021330 PMID:17010495 PMID:17389303 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
JBrowse link
G Epo erythropoietin treatment IDA RGD PMID:23518641 RGD:10401076 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Eppin epididymal peptidase inhibitor ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:161,043,761...161,050,550
Ensembl chr 3:161,041,727...161,050,557
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 IDA
ISO
protein:increased phosphorylation:hippocampus RGD PMID:22158510, PMID:22158510 RGD:10449024, RGD:10449024 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
JBrowse link
G Erg ETS transcription factor ERG ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr11:35,645,317...35,749,637
Ensembl chr11:35,646,116...35,749,594
JBrowse link
G Ermard ER membrane-associated RNA degradation ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:56,982,742...57,008,076
Ensembl chr 1:56,982,821...57,001,665
JBrowse link
G Extl2 exostosin-like glycosyltransferase 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:218,951,112...218,972,576
Ensembl chr 2:218,951,141...218,971,886
JBrowse link
G Eya2 EYA transcriptional coactivator and phosphatase 2 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:162,285,275...162,470,642
Ensembl chr 3:162,346,490...162,470,065
JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: therapeutic CTD PMID:25933444 NCBI chr 5:134,852,899...134,872,095
Ensembl chr 5:134,852,875...134,871,775
JBrowse link
G Fabp7 fatty acid binding protein 7 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:40,769,624...40,773,156
Ensembl chr20:40,769,586...40,773,349
JBrowse link
G Fam184a family with sequence similarity 184, member A ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:34,935,029...35,054,806
Ensembl chr20:34,936,050...35,054,881
JBrowse link
G Fam83d family with sequence similarity 83, member D ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:155,269,344...155,288,612
Ensembl chr 3:155,269,347...155,288,533
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Fas Fas cell surface death receptor IEP mRNA, protein:increased expression:hippocampus (rat) RGD PMID:11435933 RGD:8662911 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fasn fatty acid synthase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr10:109,987,735...110,005,901
Ensembl chr10:109,987,735...110,005,901
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9662406 PMID:18414213 PMID:20157158 PMID:21990111 PMID:23374165 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa susceptibility ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.R131H (human) RGD PMID:17596285 RGD:5508454 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) RGD PMID:17596285 RGD:5508454 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21269288 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IEP protein:increased expression:cerebral cortex,hippocampus,neuron, astrocyrte: RGD PMID:8072686 RGD:10402045 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fitm2 fat storage-inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:159,856,994...159,863,506
Ensembl chr 3:159,856,994...159,863,506
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:21937992 PMID:25741868 PMID:27535533 PMID:27884173 PMID:28492532 PMID:29661558 PMID:29961769 NCBI chr 1:166,934,457...166,945,864
Ensembl chr 1:166,934,460...166,943,592
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:8923670 PMID:9630518 PMID:11955713 PMID:12946577 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit IEP protein:increased expression:hippocampus RGD PMID:11488404 RGD:2293787 NCBI chr 1:220,826,560...220,835,066
Ensembl chr 1:220,826,560...220,835,066
JBrowse link
G Foxg1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18627055 NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
JBrowse link
G Frrs1l ferric-chelate reductase 1-like ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:21147040 PMID:25741868 PMID:27236917 PMID:27239025 PMID:28492532 PMID:32860008 NCBI chr 5:73,997,958...74,029,381
Ensembl chr 5:74,000,227...74,029,238
JBrowse link
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 IEP
IDA
protein:altered location:forebrain RGD PMID:19054408, PMID:15153780 RGD:2315437, RGD:2315492 NCBI chr20:1,955,344...1,984,907
Ensembl chr20:1,955,359...1,984,863
JBrowse link
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 5:62,276,100...62,621,737
Ensembl chr 5:62,276,100...62,621,737
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Seizures
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16530959 PMID:16569738 PMID:18414213 PMID:24623842 PMID:24909990 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532 PMID:30949046 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:8985701 NCBI chr 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451
JBrowse link
G Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr14:38,631,192...39,112,598
Ensembl chr14:38,643,385...39,112,600
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:18514161 PMID:19935738 PMID:20550555 PMID:25726841 PMID:25741868 PMID:26467025 PMID:26845707 PMID:26950270 PMID:28492532 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:23708187 PMID:25726841 PMID:25730860 PMID:25741868 PMID:26467025 PMID:27864268 PMID:28492532 PMID:29100083 PMID:29358611 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Gad2 glutamate decarboxylase 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:8954991 PMID:8985701, PMID:8954991 RGD:1302511 NCBI chr17:89,171,576...89,234,770
Ensembl chr17:89,171,250...89,238,040
JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:218,653,059...218,657,922
Ensembl chr 1:218,652,917...218,657,925
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:15651030 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Gap43 growth associated protein 43 IEP RGD PMID:11054811 RGD:9685329 NCBI chr11:58,624,198...58,717,916
Ensembl chr11:58,624,198...58,717,914
JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Gdap1l1 ganglioside-induced differentiation-associated protein 1-like 1 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:159,823,791...159,843,260
Ensembl chr 3:159,823,878...159,842,278
JBrowse link
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:70,563,381...70,572,295
Ensembl chr  X:70,563,570...70,572,295
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10984309 PMID:25741868 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:19429016 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Gja1 gap junction protein, alpha 1 IEP
ISO
ClinVar Annotator: match by term: Seizures ClinVar PMID:14622215 RGD:1299355 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gjb6 gap junction protein, beta 6 IEP RGD PMID:23149765 RGD:7364770 NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Seizure
ClinVar Annotator: match by term: Seizures
ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP RGD PMID:11240587 RGD:6484589 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Glul glutamate-ammonia ligase IDA RGD PMID:21935729 RGD:10047087 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
JBrowse link
G Gnai1 G protein subunit alpha i1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:13,405,136...13,486,866
Ensembl chr 4:13,405,136...13,485,883
JBrowse link
G Gnat3 G protein subunit alpha transducin 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:13,827,764...13,878,126
Ensembl chr 4:13,827,756...13,878,126
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Seizures, tonic-clonic ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:30194818 PMID:31735425 PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Gnb3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18855531 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:33,471,355...33,521,281
Ensembl chr20:33,471,351...33,521,311
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081
JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 6:101,327,874...101,859,169
Ensembl chr 6:101,532,518...101,859,164
JBrowse link
G Gpld1 glycosylphosphatidylinositol specific phospholipase D1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr17:42,085,027...42,131,344
Ensembl chr17:42,085,028...42,127,678
JBrowse link
G Gprc6a G protein-coupled receptor, class C, group 6, member A ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:32,607,653...32,628,953
Ensembl chr20:32,607,653...32,628,953
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:19666089 RGD:4107726 NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
JBrowse link
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 ISO RGD PMID:7502080 RGD:737715 NCBI chr 2:179,584,302...179,704,629
Ensembl chr 2:179,584,308...179,704,629
JBrowse link
G Grik1 glutamate ionotropic receptor kainate type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12080343 NCBI chr11:27,811,954...28,213,940
Ensembl chr11:27,811,957...27,971,359
JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:53,791,428...54,517,691
Ensembl chr20:53,789,760...54,517,709
JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 IMP RGD PMID:12080343 RGD:625595 NCBI chr 1:81,885,516...81,946,731
Ensembl chr 1:81,885,521...81,946,714
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:26467025 PMID:28492532 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Grin2d glutamate ionotropic receptor NMDA type subunit 2D ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 1:101,819,068...101,859,146
Ensembl chr 1:101,820,461...101,856,881
JBrowse link
G Grm3 glutamate metabotropic receptor 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:21,316,761...21,567,561
Ensembl chr 4:21,317,695...21,560,490
JBrowse link
G Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 4:142,452,616...143,368,460
Ensembl chr 4:142,780,987...143,367,578
JBrowse link
G Grm8 glutamate metabotropic receptor 8 IDA RGD PMID:17434465 RGD:6771182 NCBI chr 4:54,474,344...55,409,526
Ensembl chr 4:54,474,136...55,407,922
JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:16950801 PMID:17202431 PMID:17228326 PMID:17345602 PMID:17371905 PMID:17436289 PMID:17984093 PMID:18183624 PMID:18184915 PMID:18223198 PMID:18234697 PMID:18314228 PMID:18464284 PMID:18543312 PMID:18565828 PMID:18752597 PMID:18838661 PMID:19012866 PMID:19158106 PMID:19632744 PMID:19649643 PMID:20020531 PMID:20028451 PMID:20142524 PMID:21800185 PMID:22312439 PMID:22995991 PMID:23684369 PMID:23724906 PMID:23742080 PMID:23759146 PMID:23990795 PMID:24503614 PMID:25104557 PMID:25333068 PMID:25741868 PMID:26159191 PMID:26467025 PMID:26652843 PMID:26811050 PMID:27632209 PMID:27790088 PMID:27884173 PMID:27997711 PMID:28492532 PMID:30279455 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Gtsf1l gametocyte specific factor 1-like ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:159,452,355...159,453,243 JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:20384728, PMID:17988239 RGD:9686135 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 IEP
ISO
ClinVar Annotator: match by term: Seizures ClinVar PMID:17988239 RGD:9686135 NCBI chr 7:12,851,730...12,870,087
Ensembl chr 7:12,851,739...12,874,215
JBrowse link
G Hdac2 histone deacetylase 2 IEP protein:increased expression:hippocampus & cortex: RGD PMID:21987499 RGD:9590259 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hdac4 histone deacetylase 4 ISO RGD PMID:19672313 RGD:9681457 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hgf hepatocyte growth factor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25074461 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr16:70,876,557...70,909,443 JBrowse link
G Hivep1 HIVEP zinc finger 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr17:22,278,103...22,403,362
Ensembl chr17:22,278,798...22,311,392
JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Hlcs holocarboxylase synthetase ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr11:34,357,372...34,537,798
Ensembl chr11:34,352,287...34,526,931
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25326635 PMID:25741868 PMID:28815871 NCBI chr13:96,222,093...96,238,845
Ensembl chr13:96,225,912...96,238,572
JBrowse link
G Hrh3 histamine receptor H3 IDA RGD PMID:15319804 RGD:1626432 NCBI chr 3:175,474,310...175,479,395
Ensembl chr 3:175,473,078...175,479,395
JBrowse link
G Hsf2 heat shock transcription factor 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr20:38,935,820...38,963,444
Ensembl chr20:38,935,820...38,963,309
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A severity ISO protein:increased expression:cerebral spinal fluid: RGD PMID:22509781 RGD:7257648 NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 IEP protein:increased expression:hippocampus: RGD PMID:25219120 RGD:11354919 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:2533336 PMID:12646302 PMID:16313900 NCBI chr 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
JBrowse link
G Htr1b 5-hydroxytryptamine receptor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2533336 NCBI chr 8:89,113,984...89,130,830
Ensembl chr 8:89,129,453...89,130,991
JBrowse link
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:19387015 PMID:25741868 PMID:26063658 PMID:32101834 PMID:32581362 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:21,474,627...21,603,348
Ensembl chr  X:21,499,934...21,598,876
JBrowse link
G Ice2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 8:75,625,147...75,666,959
Ensembl chr 8:75,625,174...75,666,866
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12432978 NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
JBrowse link
G Ifng interferon gamma IEP mRNA:increased expression:hippocampus: RGD PMID:19944569 RGD:10755768 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ift52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:159,388,868...159,413,358
Ensembl chr 3:159,392,193...159,413,575
JBrowse link
G Il1b interleukin 1 beta IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16824509, PMID:16886979 RGD:2315919 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12836160 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor IEP mRNA:increased expression:hippocampus RGD PMID:12591161 RGD:1625441 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Il6st interleukin 6 cytokine family signal transducer IEP RGD PMID:14597225 RGD:1627572 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
G Impa1 inositol monophosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460611 NCBI chr 2:93,675,203...93,696,355
Ensembl chr 2:93,675,203...93,696,232
JBrowse link
G Ino80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25558065 NCBI chr 3:111,186,371...111,266,542
Ensembl chr 3:111,187,711...111,266,542
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4115818 PMID:14714756 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
JBrowse link
G Irf2bpl interferon regulatory factor 2 binding protein-like ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30057031 NCBI chr 6:110,901,940...110,904,288
Ensembl chr 6:110,901,940...110,904,288
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 IAGP RGD PMID:22206926 RGD:10047237 NCBI chr 4:159,190,781...159,192,526
Ensembl chr 4:159,190,804...159,192,526
JBrowse link
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures IAGP RGD PMID:22206926 RGD:10047237
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:25741868 PMID:25751627 PMID:26467025 PMID:28019661 PMID:28492532 NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:26467025 PMID:28492532 NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 PMID:26264464 PMID:26818738 PMID:32581362 PMID:32860008 NCBI chr13:110,920,712...111,232,291
Ensembl chr13:110,920,737...111,232,269
JBrowse link
G Kcnh5 potassium voltage-gated channel subfamily H member 5 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 6:97,872,831...98,157,087
Ensembl chr 6:97,872,831...98,157,087
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:21458570 PMID:23965030 PMID:24378235 PMID:25741868 PMID:26467025 PMID:27182706 PMID:27535533 PMID:27677466 PMID:27884173 PMID:28492532 PMID:29615871 PMID:30304693 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581