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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:24031089, PMID:25741868, 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:17357078, PMID:18414213, PMID:20890276, PMID:21572417, PMID:22796429, PMID:22833210, PMID:23033978, PMID:23160955, PMID:23408766, PMID:23718928, PMID:23918416, PMID:23933819, PMID:23933820, PMID:23934111, PMID:24126926, PMID:24267886, PMID:24272827, PMID:24999380, PMID:25326635, PMID:25326637, PMID:25356899, PMID:25741868, PMID:25741869, PMID:26350515, PMID:26467025, PMID:27572814, PMID:27605359, PMID:27616045, PMID:27656287, PMID:27818011, PMID:27839871, PMID:28283559, PMID:28377535, PMID:28440294, PMID:28492532, PMID:28503605, PMID:28554332, PMID:28708303, PMID:28856709 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:15955779, PMID:17350655, PMID:22178256, PMID:22495311, PMID:22865819, PMID:23020937, PMID:23708187, PMID:23934111, PMID:24207121, PMID:24614520, PMID:24932903, PMID:25262651, PMID:25284784, PMID:25326635, PMID:25418537, PMID:25672921, PMID:25741868, PMID:25783594, PMID:26467025, PMID:26615199, PMID:26754451, PMID:26795593, PMID:28074849, PMID:28492532, PMID:28960266, 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: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:25356970, PMID:25741868, PMID:26865513, PMID:26993267, PMID:28492532 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 Actb actin, beta ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:27848944, PMID:28492532, PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
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 Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:15221449, PMID:16470552, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
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
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr  X:71,412,291...71,486,456
Ensembl chr  X:71,412,289...71,485,085
JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Optic nerve coloboma ClinVar PMID:30311386 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Optic nerve coloboma ClinVar PMID:9375913, PMID:10508989, PMID:17377820, PMID:17397051, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:27491411, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr 3:80,549,102...80,555,186 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 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 ClinVar
OMIM
PMID:11690625, PMID:21076407, PMID:22442688, PMID:23020937, PMID:23372760, PMID:24668509, PMID:24726472, PMID:25741868, PMID:26048982, PMID:26795593, PMID:26834045, PMID:28213671, 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
early infantile epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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:1605226, 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:12379852, 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:19439424, PMID:19507262, PMID:19606478, PMID:19738637, PMID:20148114, PMID:20300201, PMID:20384723, PMID:20506206, PMID:21108397, PMID:21204215, PMID:21204226, PMID:21426321, PMID:21496008, PMID:22252899, PMID:22922607, PMID:23039062, PMID:23246292, PMID:23757202, PMID:24643514, PMID:24781210, PMID:25044608, PMID:25741868, PMID:26029707, PMID:26337422, PMID:26467025, PMID:27781032, PMID:28150386, PMID:28492532, PMID:29152528, PMID:30255221, 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 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 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 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 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 Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
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:1377421, PMID:1706481, PMID:8046438, PMID:8158277, PMID:8663992, PMID:8663993, PMID:9525859, PMID:11331357, PMID:12127166, PMID:12214225, PMID:14765197, PMID:15694325, PMID:16002579, PMID:16002581, PMID:16075038, PMID:16704338, PMID:17634333, PMID:20696761, PMID:21044565, PMID:25477152, PMID:25741868, PMID:25751627, PMID:26648591, PMID:27062609, PMID:27117551, PMID:27543892, PMID:27733563, PMID:28019717, PMID:28032718, PMID:28492532 NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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 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 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 Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
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 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
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 Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:10574461, PMID:18414213, PMID:20727515, PMID:22277662, PMID:23184456, PMID:23526554, PMID:23806086, PMID:24033266, PMID:24088043, PMID:24291220, PMID:24387994, PMID:24469796, 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:31112829, PMID:31257402 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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
early infantile 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: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:30311386, PMID:30776697, 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:29264392, PMID:29655203, PMID:30311386 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
Early Infantile 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: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77 OMIM
ClinVar
PMID:9463366, PMID:9729469, PMID:10373468, PMID:11418246, PMID:22265715, PMID:24463883, PMID:24852103, PMID:25558065, PMID:25851949, PMID:27513193, PMID:28492532, PMID:30311386, PMID:31148362 NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
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: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:22985072, PMID:23077017, PMID:23077024, PMID:23077026, PMID:23126439, PMID:23180180, PMID:23182655, PMID:23299620, PMID:23343561, PMID:23352743, PMID:23532549, PMID:23535490, PMID:23768507, PMID:23771590, PMID:24074546, PMID:24370076, PMID:24465263, PMID:24609974, PMID:24661410, PMID:25457817, PMID:25502464, PMID:25522171, PMID:25595153, PMID:25667652, PMID:25741868, PMID:25915028, PMID:26384010, PMID:26446061, PMID:26467025, PMID:26544041, PMID:26561923, PMID:26598493, PMID:26598494, PMID:26621826, PMID:26717662, PMID:26876767, PMID:26993267, PMID:27123484, PMID:27173777, PMID:28074849, PMID:28492532, PMID:29334453, PMID:30311386 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: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
OMIM
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 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, PMID:30311386 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 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:3029762, PMID:8052858, PMID:10473536, PMID:10627609, PMID:11461966, PMID:15800199, PMID:20700442, PMID:22015374, PMID:24140049, PMID:25245802, PMID:25262651, PMID:25741868, PMID:27597899, 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
OMIM
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:7165045, PMID:10446192, PMID:18414213, PMID:20118933, PMID:22508754, PMID:23224214, PMID:23708187, PMID:24033266, PMID:24965255, PMID:25558065, PMID:25728773, PMID:25741868, PMID:26467025, PMID:26993267, PMID:27066567, PMID:27066586, PMID:27165045, PMID:27232581, PMID:28492532, PMID:29261713, PMID:29655203, PMID:29720203, PMID:30039206, PMID:30311386 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:10574991, PMID:18635593, PMID:21493957, PMID:24033266, PMID:24253414, PMID:24852103, PMID:25741868, PMID:25920937, 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 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: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:25741868, PMID:27389779 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, PMID:30311386 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
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:24656866, PMID:25432320, PMID:25471517, PMID:25741868, PMID:26467025, PMID:26869582, PMID:28492532 NCBI chr 8:117,297,670...117,305,708
Ensembl chr 8:117,297,670...117,305,702
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:28635423, PMID:28752061, PMID:29375859, PMID:29390993, PMID:29431110, PMID:30311386, 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
OMIM
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:7550332, PMID:7809080, PMID:8660990, PMID:9326330, PMID:11092830, PMID:12974736, PMID:15254238, PMID:15314020, PMID:15467718, PMID:15755954, PMID:15805158, PMID:16647875, PMID:17286265, PMID:18354181, PMID:19854944, PMID:19963289, PMID:20731814, PMID:22023617, PMID:22053105, PMID:22552098, PMID:22654878, PMID:22729223, PMID:23161681, PMID:23209702, PMID:23516405, PMID:23555892, PMID:23934111, PMID:24497577, PMID:24631838, PMID:25473036, PMID:25533962, PMID:25599672, PMID:25741868, PMID:25851998, PMID:26542245, PMID:26619011, PMID:27159400, PMID:27513193, PMID:27753196, PMID:27830187, PMID:28475857, PMID:28492532, PMID:28554332, PMID:28892148, 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:1714544, PMID:10766892, PMID:10980529, PMID:11477212, PMID:12325075, PMID:12752470, PMID:15180870, PMID:16949238, PMID:17052934, PMID:18577546, PMID:18606970, PMID:19798636, PMID:20129935, PMID:20221955, PMID:20417043, PMID:20687207, PMID:21069159, PMID:21135204, PMID:21555602, PMID:21791420, PMID:21832227, PMID:22492876, PMID:23280796, PMID:23306390, PMID:23340081, PMID:23443458, PMID:23448551, PMID:24963779, PMID:25108116, PMID:25326635, PMID:25487684, PMID:25564316, PMID:25741868, PMID:25982116, PMID:26193382, PMID:26216499, PMID:26304067, PMID:26336901, 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, PMID:30311386 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 Acmsd aminocarboxymuconate semialdehyde decarboxylase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr13:44,424,689...44,468,734
Ensembl chr13:44,424,689...44,468,734
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 Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
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 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 Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
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 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 Agbl1 ATP/GTP binding protein-like 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 1:137,798,862...138,711,126
Ensembl chr 1:137,799,185...138,711,126
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 Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:26026163, PMID:26297558, PMID:30311386 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
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, PMID:30311386 NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:1856829, PMID:2336380, PMID:8541450, PMID:11757579, PMID:12205126, PMID:12417303, PMID:15880727, PMID:18541450, PMID:19768653, PMID:20033295, PMID:20882353, PMID:23430936, PMID:28492532, PMID:30311386 NCBI chr 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824
JBrowse link
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
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 Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:7550313, PMID:27466191, PMID:30311386 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 PMID:15272469, PMID:16450403, PMID:25741868, PMID:27362913, PMID:28492532, PMID:30311386 NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
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: Focal seizures
ClinVar Annotator: match by term: Seizures
ClinVar PMID:25741868, PMID:30311386 NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9673985, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:23757202, PMID:24022920, PMID:24232312, PMID:24843231, PMID:25741868, PMID:25891276, PMID:26467025, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25552650, PMID:25741868, PMID:28492532, PMID:28708303, PMID:30311386 NCBI chr 6:72,461,977...72,502,717
Ensembl chr 6:72,461,977...72,503,847
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 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 Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr10:55,532,097...55,545,675
Ensembl chr10:55,532,077...55,544,429
JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr  X:64,249,576...64,428,444
Ensembl chr  X:64,248,278...64,428,592
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:28323383, PMID:30311386 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 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 Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9887333, PMID:10330348, PMID:10817650, PMID:10980530, PMID:12810666, PMID:15390180, PMID:16266405, PMID:20153123, PMID:22585167, PMID:25614872, PMID:25741868, PMID:26506520, PMID:27159176, PMID:28492532, PMID:30311386 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Seizures, tonic-clonic
ClinVar PMID:2842249, PMID:8496742, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24631656, PMID:24739246, PMID:24842602, PMID:24996492, PMID:25359261, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26633545, PMID:27091223, PMID:28293679, PMID:28492532, PMID:29184165, PMID:30311386, PMID:32581362 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 Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10502777, PMID:12885331, PMID:16283883, PMID:17264425, PMID:17919502, PMID:18034201, PMID:18286826, PMID:18371106, PMID:20517649, PMID:21610751, PMID:22735241, PMID:23518715, PMID:23789284, PMID:26799313, PMID:28492532, PMID:30311386 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Atp8a2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:30311386 NCBI chr15:39,955,689...40,488,737
Ensembl chr15:40,000,322...40,428,800
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
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 PMID:30311386 NCBI chr 4:145,264,445...145,280,943
Ensembl chr 4:145,264,462...145,280,857
JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9232193, PMID:9375914, PMID:9654207, PMID:10400129, PMID:10801053, PMID:11313766, PMID:17185019, PMID:20224900, PMID:22698809, PMID:23644139, PMID:24797656, PMID:25423671, PMID:25741868, PMID:26361991, PMID:26467025, PMID:26810761, PMID:27329734, PMID:27657684, PMID:28492532, PMID:28498829, PMID:30311386 NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458
JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:165,382,279...165,480,088
Ensembl chr 1:165,382,690...165,479,655
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:30311386, 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 Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr13:71,899,445...72,534,992
Ensembl chr13:71,906,702...72,367,980
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 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 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 Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 4:29,638,280...29,693,151
Ensembl chr 4:29,639,154...29,691,928
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 Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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 Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:7762555, PMID:8353501, PMID:9587029, PMID:10338090, PMID:10408774, PMID:12124992, PMID:12686134, PMID:14722927, PMID:15365998, PMID:16307898, PMID:16479318, PMID:20490928, PMID:20506325, PMID:22069143, PMID:22267502, PMID:22612060, PMID:25741868, PMID:28492532, PMID:29352562, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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 Cdh8 cadherin 8 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr19:6,031,654...6,431,502
Ensembl chr19:6,046,665...6,426,216
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
DNA:deletion, missense, nonsense mutations:cds:
CTD PMID:22264704, 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 Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
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, PMID:30311386 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 PMID:24121633, PMID:27748205, PMID:28492532 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:7895015, PMID:10563623, PMID:10643924, PMID:10939581, PMID:10942032, PMID:11904236, PMID:12887446, PMID:14623738, PMID:15154117, PMID:16339034, PMID:18414213, PMID:18479385, PMID:19020039, PMID:19058950, PMID:19237585, PMID:19628474, 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 PMID:30311386 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 PMID:30311386 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 Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, 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: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 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures
CTD
ClinVar
PMID:23027747, PMID:30311386 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 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 Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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 Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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 Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
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 Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 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 Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
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 Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
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: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:25741868, 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 Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9802883, PMID:18252231, PMID:19812052, PMID:28492532, PMID:30311386 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
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 Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
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 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 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, PMID:30311386 NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
JBrowse link
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 3:80,844,002...80,886,487
Ensembl chr 3:80,844,005...80,875,817
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 Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:30311386 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
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 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 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 Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
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 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: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 Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr10:10,530,302...10,540,428
Ensembl chr10:10,530,365...10,540,428
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 2:68,820,616...68,895,537 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 Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 6:26,546,917...26,552,474
Ensembl chr 6:26,546,924...26,552,430
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 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 Annotator: match by term: Focal seizures
ClinVar PMID:11735300, PMID:14706656, PMID:16021330, PMID:17010495, PMID:17389303, PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 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 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 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 Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 9:70,448,386...70,471,420
Ensembl chr 9:70,450,444...70,470,550
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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 Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
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, PMID:30311386 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 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 PMID:30311386 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
JBrowse link
G Frmpd4 FERM and PDZ domain containing 4 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr  X:27,231,648...28,206,890
Ensembl chr  X:28,072,826...28,204,260
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 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9126483, PMID:11992121, PMID:16530959, PMID:16569738, PMID:16718694, PMID:18414213, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, PMID:25741868, PMID:26467025, PMID:26918889, PMID:27521439, PMID:28251550, PMID:28492532, PMID:30311386 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 CTD PMID:8985701 NCBI chr 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451
JBrowse link
G Gabrb2 gamma-aminobutyric acid type A receptor subunit beta 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr10:27,973,694...28,193,072
Ensembl chr10:27,973,681...28,187,565
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 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 PMID:30311386 NCBI chr 1:218,653,059...218,657,922
Ensembl chr 1:218,652,917...218,657,925
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:30311386 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
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 Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
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 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 Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
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 Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 2:164,601,575...164,646,478
Ensembl chr 2:164,601,586...164,646,439
JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10984309, PMID:25741868, PMID:30311386 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:30311386, PMID:14622215 RGD:1299355 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
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 Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:2393552, PMID:16773563, PMID:18830871, PMID:20110537, PMID:20122163, PMID:20716442, PMID:21890869, PMID:21946453, PMID:22205110, PMID:22437327, PMID:22551898, PMID:23306324, PMID:23922385, PMID:23935525, PMID:24033266, PMID:24365053, PMID:24395922, PMID:24582695, PMID:24661928, PMID:24829596, PMID:25179549, PMID:25468652, PMID:25741868, PMID:26305465, PMID:26866599, PMID:28299312, PMID:28409012, PMID:28492532, PMID:28596458, PMID:28646478, PMID:28941980, PMID:29330335, PMID:29631605, PMID:30311386, PMID:30569317, PMID:30773290, PMID:31291414, PMID:31449323, PMID:31566927, PMID:31654629, PMID:31907047, PMID:32418857, PMID:32531501 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
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 Glra1 glycine receptor, alpha 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr10:40,851,955...40,954,364
Ensembl chr10:40,855,559...40,953,651
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:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, 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 Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Seizures ClinVar 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 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:28492532, PMID:29358611, PMID:30311386, PMID:30544257 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, PMID:30311386 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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 H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr17:43,734,461...43,735,120
Ensembl chr17:43,734,461...43,735,120
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 RGD 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 Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:1827944, PMID:1837283, PMID:2934978, PMID:6236221, PMID:9694901, PMID:14577003, PMID:15714079, PMID:16088929, PMID:18490185, PMID:19091716, PMID:22441121, PMID:25860343, PMID:28492532, PMID:30311386 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
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 Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
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 Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9482850, PMID:9915948, PMID:10419023, PMID:10497229, PMID:16385454, PMID:25741868, PMID:25967389, PMID:26970254, PMID:27290639, PMID:28492532, PMID:30311386 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
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 Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 5:155,812,096...155,913,751 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 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 Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
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 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 Irf2bpl interferon regulatory factor 2 binding protein-like ISO ClinVar Annotator: match by term: Seizures ClinVar 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 PMID:30311386 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: Focal seizures
ClinVar Annotator: match by term: Seizures
ClinVar PMID:25741868, PMID:30311386 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 Annotator: match by term: Seizures, tonic-clonic
ClinVar PMID:26467025, PMID:28492532, PMID:30311386 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:9738473, PMID:18203178, PMID:23424202, PMID:25420144, PMID:25711872, PMID:25741868, PMID:25915598, 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
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:18021373, PMID:18021373 RGD:2301911 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Kcnj15 potassium inwardly-rectifying channel, subfamily J, member 15 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr11:35,545,185...35,588,517
Ensembl chr11:35,568,182...35,585,390
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:23644778, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr11:35,011,007...35,262,362
Ensembl chr11:35,024,196...35,099,383
JBrowse link
G Kcnk15 potassium two pore domain channel subfamily K member 15 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:160,231,914...160,238,132
Ensembl chr 3:160,231,914...160,238,132
JBrowse link
G Kcnk4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30290154 NCBI chr 1:222,182,997...222,192,139
Ensembl chr 1:222,183,276...222,189,604
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Seizures
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3360469, PMID:6965523, PMID:8327138, PMID:9425895, PMID:9430594, PMID:9872318, PMID:10323247, PMID:10781098, PMID:11572947, PMID:11690625, PMID:12742592, PMID:12754513, PMID:14534157, PMID:14985406, PMID:15608631, PMID:16829045, PMID:17475800, PMID:17675531, PMID:17872363, PMID:18238816, PMID:18414213, PMID:18483067, PMID:19380078, PMID:19453707, PMID:20119593, PMID:20196795, PMID:21685056, PMID:22169383, PMID:22275249, PMID:22926866, PMID:23360469, PMID:23621294, PMID:23692823, PMID:23708187, PMID:23849776, PMID:24107868, PMID:24318194, PMID:24375629, PMID:24586341, PMID:25326637, PMID:25533962, PMID:25740509, PMID:25741868, PMID:25959266, PMID:25982755, PMID:26007637, PMID:26138355, PMID:26467025, PMID:26704558, PMID:26795593, PMID:26993267, PMID:27334371, PMID:27535030, PMID:27602407, PMID:27779742, PMID:27861786, PMID:28399683, PMID:28492532, PMID:28602030, PMID:28867141, PMID:29056246, PMID:29129156, PMID:29720203, PMID:30185235, PMID:30311386, PMID:31199083, PMID:32860008 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:16235065, PMID:17765802, PMID:18625963, PMID:19344764, PMID:21703448, PMID:23596459, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 9:27,565,869...28,141,114
Ensembl chr 9:27,562,959...27,761,733
JBrowse link
G Kcns1 potassium voltage-gated channel, modifier subfamily S, member 1 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:160,554,423...160,561,820
Ensembl chr 3:160,554,425...160,561,741
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:18414213, PMID:25339316, PMID:25741868, PMID:26105150, PMID:26140313, PMID:26467025, PMID:26740507, PMID:26786403, PMID:27029629, PMID:28488083, PMID:28492532, PMID:28554332, PMID:29358611, PMID:29422393, PMID:30311386 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Kcnt2 potassium sodium-activated channel subfamily T member 2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr13:57,130,855...57,520,263
Ensembl chr13:57,131,395...57,521,836
JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr12:30,024,080...30,033,357
Ensembl chr12:30,024,081...30,033,357
JBrowse link
G Kdm3b lysine demethylase 3B IDA RGD PMID:24397026 RGD:9590119 NCBI chr18:27,593,823...27,631,129
Ensembl chr18:27,576,129...27,631,088
JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:22,302,664...22,349,298
Ensembl chr  X:22,302,485...22,348,627
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 2:38,145,507...38,208,765
Ensembl chr 2:38,147,601...38,208,719
JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr  X:70,461,700...70,561,084
Ensembl chr  X:70,461,718...70,561,189
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25669429, PMID:25741868, PMID:27535533 NCBI chr 1:251,417,849...251,420,794 JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 4:82,506...109,986
NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30311386 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human) RGD PMID:24894778 RGD:13506818 NCBI chr 6:92,016,560...92,057,643
Ensembl chr 6:92,016,622...92,057,816
JBrowse link
G L3mbtl1 L3MBTL histone methyl-lysine binding protein 1 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:159,316,580...159,348,914
Ensembl chr 3:159,321,310...159,347,631
JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:9,265,407...9,327,107
Ensembl chr 3:9,267,122...9,326,993
JBrowse link
G Lbp lipopolysaccharide binding protein ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:154,786,232...154,812,910
Ensembl chr 3:154,786,215...154,813,464
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Lep leptin ISO CTD Direct Evidence: therapeutic CTD PMID:17993459 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14706454 NCBI chr14:82,227,790...82,267,298
Ensembl chr14:82,227,708...82,267,350
JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:21504429, PMID:25741868, PMID:26773249, PMID:28492532, PMID:30311386 NCBI chr 1:256,955,944...256,996,835
Ensembl chr 1:256,955,652...256,999,253
JBrowse link
G Lpin3 lipin 3 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:156,874,805...156,899,601
Ensembl chr 3:156,886,454...156,899,436
JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868
JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532, PMID:30311386 NCBI chr17:90,323,055...90,522,091 JBrowse link
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:28492532 NCBI chr 3:2,547,259...2,569,051
Ensembl chr 3:2,547,986...2,569,049
JBrowse link
G Manbal mannosidase beta like ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:153,491,151...153,520,736
Ensembl chr 3:153,491,151...153,520,735
JBrowse link
G Map1b microtubule-associated protein 1B IEP
ISO
mRNA, protein:altered localization:brain
ClinVar Annotator: match by term: Seizures
mRNA:increased expression:hippocampus
ClinVar PMID:11395167, PMID:12598335 RGD:2304062, RGD:2304015 NCBI chr 2:29,675,391...29,768,750
Ensembl chr 2:29,675,391...29,768,750
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 IEP protein:increased expression:CA1 field of hippocampus: RGD PMID:12786973 RGD:2298728 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr10:14,259,394...14,299,276
Ensembl chr10:14,260,787...14,299,167
JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate IEP RGD PMID:11054811 RGD:9685329 NCBI chr20:42,966,140...42,971,838
Ensembl chr20:42,966,140...42,971,838
JBrowse link
G Marcksl1 MARCKS-like 1 IEP RGD PMID:11054811 RGD:9685329 NCBI chr 5:147,714,163...147,716,486
Ensembl chr 5:147,714,163...147,716,485
JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr19:26,026,045...26,053,762
Ensembl chr19:26,026,043...26,053,762
JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:160,838,632...160,853,650
Ensembl chr 3:160,838,632...160,853,650
JBrowse link
G Mbd1 methyl-CpG binding domain protein 1 IEP mRNA:increased expression:dentate gyrus RGD PMID:12123686 RGD:9587847 NCBI chr18:70,248,568...70,263,190
Ensembl chr18:70,248,713...70,263,164
JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 IEP mRNA:increased expression:hippocampus RGD PMID:12123686 RGD:9587847 NCBI chr18:65,814,026...65,885,115
Ensembl chr18:65,814,026...65,885,114
JBrowse link
G Mbd3 methyl-CpG binding domain protein 3 IEP mRNA:increased expression:hippocampus RGD PMID:12123686 RGD:9587847 NCBI chr 7:12,179,046...12,186,251
Ensembl chr 7:12,179,203...12,186,656
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Seizures, tonic-clonic ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
JBrowse link
G Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 6:88,442,620...89,292,454
Ensembl chr 6:88,447,749...88,917,070
JBrowse link
G Mecp2 methyl CpG binding protein 2 IEP
ISO
mRNA:increased expression:dentate gyrus
ClinVar Annotator: match by term: Seizures
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8177735, PMID:10508514, PMID:10767337, PMID:10854091, PMID:11035019, PMID:11055898, PMID:11058114, PMID:11227330, PMID:11245712, PMID:11524741, PMID:11738883, PMID:12075485, PMID:12111643, PMID:12180070, PMID:12615169, PMID:12966523, PMID:15057977, PMID:15558314, PMID:16169931, PMID:16473305, PMID:16690727, PMID:16832102, PMID:16844334, PMID:17089071, PMID:17142618, PMID:17236109, PMID:17267601, PMID:17351020, PMID:17387578, PMID:18174559, PMID:18337588, PMID:19652677, PMID:19914908, PMID:19921286, PMID:20151026, PMID:21154482, PMID:21160487, PMID:21954873, PMID:21982064, PMID:22277191, PMID:23421866, PMID:23921973, PMID:24399845, PMID:24458799, PMID:25741868, PMID:27354166, PMID:27799067, PMID:28492532, PMID:30311386, PMID:12123686 RGD:9587847 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:30311386 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr10:73,702,327...73,787,084
Ensembl chr10:73,702,327...73,787,083
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:9288094, PMID:9288758, PMID:9781020, PMID:10364520, PMID:10787449, PMID:11464248, PMID:15643295, PMID:15942916, PMID:16785446, PMID:16889173, PMID:18353061, PMID:19790133, PMID:20008920, PMID:21290976, PMID:22037353, PMID:23334425, PMID:23907647, PMID:24318677, PMID:25741868, PMID:27030597, PMID:28492532, PMID:30171907, PMID:30311386 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Seizures
ClinVar Annotator: match by term: Focal seizures
ClinVar PMID:17564970, PMID:18414213, PMID:19177532, PMID:19201763, PMID:19277732, PMID:21990111, PMID:22668694, PMID:25227500, PMID:25333361, PMID:25439737, PMID:25741868, PMID:26467025, PMID:26681805, PMID:28041643, PMID:28492532, PMID:28586915, PMID:29924869, PMID:30311386 NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20943912 NCBI chr18:1,970,914...2,094,920
Ensembl chr18:1,970,914...2,094,920
JBrowse link
G Mir126b microRNA 126b ISO ClinVar Annotator: match by term: Seizures ClinVar NCBI chr 3:4,042,488...4,042,560 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mpdz multiple PDZ domain crumbs cell polarity complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:14960011 NCBI chr 5:99,413,184...99,566,356
Ensembl chr 5:99,413,187...99,566,318
JBrowse link
G Mroh8 maestro heat-like repeat family member 8 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:153,329,832...153,399,364
Ensembl chr 3:153,333,219...153,398,789
JBrowse link
G Msh2 mutS homolog 2 IEP protein:increased e