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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 Cacna1d calcium voltage-gated channel subunit alpha1 D susceptibility IEP mRNA, protein:increased expression:inferior colliculus (rat) RGD PMID:25556199 RGD:152985539 NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21283641 NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27219321 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
JBrowse link
Arthrogryposis, Impaired Intellectual Development, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome ClinVar PMID:19299494 PMID:24031089 PMID:28328131 PMID:28492532 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828
JBrowse link
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19299494 PMID:19763152 More... NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319
JBrowse link
autosomal dominant intellectual developmental disorder 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: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:167,768,437...167,825,706
Ensembl chr 4:167,818,271...167,825,706
JBrowse link
G Arhgdib Rho GDP dissociation inhibitor beta ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:169,822,951...169,841,884
Ensembl chr 4:169,822,952...169,841,658
JBrowse link
G Art4 ADP-ribosyltransferase 4 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:169,740,331...169,751,571
Ensembl chr 4:169,740,331...169,750,665
JBrowse link
G Atf7ip activating transcription factor 7 interacting protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:169,385,872...169,471,652
Ensembl chr 4:169,385,872...169,471,650
JBrowse link
G Bcl2l14 Bcl2-like 14 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:167,217,561...167,258,723
Ensembl chr 4:167,219,871...167,258,086
JBrowse link
G Borcs5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:167,458,640...167,543,556
Ensembl chr 4:167,473,177...167,540,993
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Crebl2 cAMP responsive element binding protein-like 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:167,673,359...167,699,299
Ensembl chr 4:167,673,315...167,699,292
JBrowse link
G Ddx47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:167,845,652...167,858,115
Ensembl chr 4:167,845,640...167,859,115
JBrowse link
G Dusp16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:167,546,780...167,629,949
Ensembl chr 4:167,548,155...167,629,980
JBrowse link
G Emp1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:168,212,901...168,233,039
Ensembl chr 4:168,212,861...168,232,904
JBrowse link
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873
JBrowse link
G Erp27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:169,804,656...169,821,660
Ensembl chr 4:169,804,658...169,821,660
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
JBrowse link
G Fam234b family with sequence similarity 234, member B ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:168,048,313...168,124,017
Ensembl chr 4:168,048,396...168,097,338
JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:167,710,944...167,739,232
Ensembl chr 4:167,710,666...167,741,036
JBrowse link
G Gprc5a G protein-coupled receptor, class C, group 5, member A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:167,903,542...167,922,276
Ensembl chr 4:167,903,542...167,922,260
JBrowse link
G Gprc5d G protein-coupled receptor, class C, group 5, member D ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:167,943,523...167,955,616
Ensembl chr 4:167,943,523...167,955,616
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Gsg1 germ cell associated 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:168,090,773...168,107,039
Ensembl chr 4:168,090,776...168,107,039
JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
JBrowse link
G H2aj H2A.J histone ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:169,675,718...169,676,202
Ensembl chr 4:169,675,752...169,677,006
JBrowse link
G H4f16 H4 histone 16 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532
G Hebp1 heme binding protein 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:167,974,318...168,003,859
Ensembl chr 4:167,974,319...168,003,854
JBrowse link
G LOC500354 similar to C030030A07Rik protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237
JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:167,266,581...167,400,155
Ensembl chr 4:167,270,353...167,400,497
JBrowse link
G Mansc1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:167,438,817...167,459,047
Ensembl chr 4:167,439,071...167,479,606
JBrowse link
G Mgp matrix Gla protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:169,857,793...169,872,969
Ensembl chr 4:169,857,812...169,872,969
JBrowse link
G Plbd1 phospholipase B domain containing 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:169,472,983...169,529,277
Ensembl chr 4:169,472,983...169,529,277
JBrowse link
G Ptpro protein tyrosine phosphatase, receptor type, O ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:170,164,071...170,374,790
Ensembl chr 4:170,164,431...170,374,771
JBrowse link
G Rerg RAS-like, estrogen-regulated, growth-inhibitor ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:169,981,634...170,089,777
Ensembl chr 4:169,982,279...170,089,715
JBrowse link
G Smco3 single-pass membrane protein with coiled-coil domains 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:169,719,962...169,728,849
Ensembl chr 4:169,719,949...169,728,133
JBrowse link
G Wbp11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar PMID:28492532 NCBI chr 4:169,680,984...169,694,431
Ensembl chr 4:169,680,983...169,694,443
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 Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:27567911 PMID:28492532 PMID:29545233 NCBI chr15:302,078...1,001,198
Ensembl chr15:302,214...1,001,198
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome
CTD
ClinVar
PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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:16199547 PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:25741868 PMID:28492532 PMID:29111009 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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 OMIM
ClinVar
PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
JBrowse link
childhood onset epileptic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISS
ISO
OMIM:615369
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset
MouseDO
ClinVar
PMID:9326634 PMID:15955779 PMID:25384982 PMID:25741868 PMID:26467025 More... NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
JBrowse link
G Dnm1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
JBrowse link
G Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28135719 More... NCBI chr11:71,997,049...72,564,965
Ensembl chr11:71,997,099...72,562,607
JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 IEP protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584
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:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909
JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
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 chr10:8,152,198...10,248,120
Ensembl chr10:8,152,198...9,686,659
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:19563458 PMID:20452746 PMID:25741868 PMID:28492532 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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:25741868 PMID:26384929 PMID:27261973 More... NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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 chr13:42,745,956...42,967,083
Ensembl chr13:42,745,947...42,967,058
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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 chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:14,776,280...14,782,197
Ensembl chr  X:14,776,293...14,782,202
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: Chromosome 15q13.3 microdeletion syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 1:116,715,286...116,837,223
Ensembl chr 1:116,714,711...116,837,240
JBrowse link
G Fan1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:117,915,323...117,945,044
Ensembl chr 1:117,917,099...117,944,977
JBrowse link
G Klf13 Kruppel-like factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 1:117,505,857...117,536,626
Ensembl chr 1:117,503,602...117,551,227
JBrowse link
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:117,777,539...117,777,644
Ensembl chr 1:117,777,539...117,777,644
JBrowse link
G Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:117,859,355...117,910,839
Ensembl chr 1:117,859,267...117,910,849
JBrowse link
G Otud7a OTU deubiquitinase 7A ISO
ISS
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome
OMIM:612001
ClinVar
MouseDO
NCBI chr 1:117,064,428...117,388,217
Ensembl chr 1:117,064,496...117,386,480
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
JBrowse link
coloboma of optic nerve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Coloboma of optic nerve ClinVar PMID:31256877 NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Coloboma of optic nerve ClinVar PMID:25741868 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Coloboma of optic nerve OMIM
ClinVar
PMID:12721955 PMID:25741868 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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:8357019 PMID:8968743 PMID:23949913 PMID:25741868 More... NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
JBrowse link
developmental and epileptic encephalopathy 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 OMIM
ClinVar
PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
JBrowse link
developmental and epileptic encephalopathy 91 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 OMIM
ClinVar
PMID:8052858 PMID:8524402 PMID:25262651 PMID:25741868 PMID:28492532 More... NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
developmental and epileptic encephalopathy 92 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 OMIM
ClinVar
PMID:25124326 PMID:25741868 PMID:27789573 PMID:28492532 PMID:29100083 NCBI chr10:26,936,592...27,156,141
Ensembl chr10:26,936,551...27,151,251
JBrowse link
developmental and epileptic encephalopathy 93 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 OMIM
ClinVar
PMID:23334411 PMID:25741868 PMID:29668857 NCBI chr11:56,561,444...56,614,694
Ensembl chr11:56,560,974...56,614,694
JBrowse link
Developmental and Epileptic Encephalopathy 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 94 OMIM
ClinVar
PMID:9326634 PMID:9536098 PMID:15955779 PMID:15988005 PMID:16199547 More... NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
JBrowse link
Developmental and Epileptic Encephalopathy 96 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsf N-ethylmaleimide sensitive factor, vesicle fusing ATPase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 96 OMIM
ClinVar
PMID:25741868 PMID:31675180 NCBI chr10:88,727,912...88,857,375
Ensembl chr10:88,727,912...88,857,386
JBrowse link
Developmental and Epileptic Encephalopathy 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Celf2 CUGBP, Elav-like family member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 97 OMIM
ClinVar
PMID:25741868 PMID:33131106 NCBI chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333
JBrowse link
Developmental and Epileptic Encephalopathy 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 98 OMIM
ClinVar
PMID:15159495 PMID:18028456 PMID:18056581 PMID:25741868 PMID:33880529 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
Developmental and Epileptic Encephalopathy 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 99 OMIM
ClinVar
PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24631656 More... NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29100083 PMID:33798445 PMID:34182312 More... NCBI chr 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454
JBrowse link
Dyskinesias, Seizures, and Intellectual Developmental Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar
PMID:11690625 PMID:24668509 PMID:25741868 PMID:26048982 PMID:26467025 More... NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
JBrowse link
EAST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Igsf8 immunoglobulin superfamily, member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576
JBrowse link
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: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human)
OMIM
ClinVar
RGD
PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... RGD:8662866 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928
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 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295
JBrowse link
G Becn1 beclin 1 treatment IEP RGD PMID:23994218 RGD:11561923 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Dmd dystrophin IEP RGD PMID:9539217 RGD:12880363 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment IEP RGD PMID:22038365 RGD:10401935 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269
JBrowse link
G Rgs10 regulator of G-protein signaling 10 IEP RGD PMID:12358788 RGD:13524540 NCBI chr 1:182,946,334...182,987,729
Ensembl chr 1:182,946,336...182,987,697
JBrowse link
G Rgs4 regulator of G-protein signaling 4 IEP RGD PMID:12358788 RGD:13524540 NCBI chr13:81,936,775...81,943,103
Ensembl chr13:81,936,775...81,943,068
JBrowse link
G Rgs7 regulator of G-protein signaling 7 IEP RGD PMID:12358788 RGD:13524540 NCBI chr13:86,979,269...87,408,834
Ensembl chr13:86,979,279...87,408,888
JBrowse link
G Rgs8 regulator of G-protein signaling 8 IEP RGD PMID:12358788 RGD:13524540 NCBI chr13:65,804,703...65,848,953
Ensembl chr13:65,804,797...65,846,807
JBrowse link
G Sv2a synaptic vesicle glycoprotein 2a IMP DNA:mutation:cds:p.L174Q(rat) RGD PMID:27265781 RGD:12792961 NCBI chr 2:183,741,455...183,757,290
Ensembl chr 2:183,741,547...183,756,927
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 chr17:33,977,908...33,982,478
Ensembl chr17:33,977,921...33,982,479
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: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS OMIM
ClinVar
PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 More... NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
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: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency OMIM
ClinVar
PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,893,945...42,897,140
Ensembl chr14:42,893,942...42,897,136
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
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 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21963049 PMID:25741868 PMID:26975589 PMID:28492532 NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
JBrowse link
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 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 intellectual disability 1 OMIM
ClinVar
PMID:24699222 PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
JBrowse link
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 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 intellectual disability 2 OMIM
ClinVar
PMID:25741868 PMID:30388404 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
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 PMID:25741868 PMID:28492532 NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12389028 PMID:12389029 PMID:16938882 PMID:25097779 PMID:25741868 More... NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly OMIM
ClinVar
PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 PMID:28492532 More... NCBI chr 8:12,101,594...12,120,592
Ensembl chr 8:12,101,594...12,120,592
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 OMIM
ClinVar
PMID:25741868 PMID:28343629 PMID:28492532 PMID:32181568 NCBI chr 5:28,181,992...28,214,486
Ensembl chr 5:28,023,594...28,214,334
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: Microcephaly, seizures, and developmental delay OMIM
ClinVar
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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 OMIM
ClinVar
PMID:22939636 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26608784 More... NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
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:16199547 PMID:24033266 PMID:24253414 PMID:26394714 PMID:27038415 More... NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
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 Bcl2 BCL2, apoptosis regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
JBrowse link
G Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,308,532...22,530,978
Ensembl chr13:22,308,548...22,530,977
JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 PMID:18606301 More... NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
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:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:21,806,972...21,902,807
Ensembl chr13:21,806,972...21,902,807
JBrowse link
G Serpinb10 serpin family B member 10 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,553,348...23,571,182
Ensembl chr13:23,553,430...23,571,182
JBrowse link
G Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,304,775...23,344,604
Ensembl chr13:23,304,456...23,344,604
JBrowse link
G Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,052,448...23,083,691
Ensembl chr13:23,052,448...23,083,691
JBrowse link
G Serpinb13 serpin family B member 13 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,118,584...23,150,760
Ensembl chr13:23,118,584...23,150,760
JBrowse link
G Serpinb2 serpin family B member 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408
JBrowse link
G Serpinb3 serpin family B member 3 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,274,120...23,280,082
Ensembl chr13:23,274,484...23,313,682
JBrowse link
G Serpinb3a serpin family B member 3A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,241,303...23,246,328
Ensembl chr13:23,236,972...23,246,985
JBrowse link
G Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,985,557...23,005,756
Ensembl chr13:22,985,557...23,005,756
JBrowse link
G Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205
JBrowse link
G Serpinb8 serpin family B member 8 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,626,945...23,650,270
Ensembl chr13:23,626,945...23,650,835
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
JBrowse link
G Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,907,105...22,932,200
Ensembl chr13:22,907,109...22,932,229
JBrowse link
G Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,118,677...22,193,626
Ensembl chr13:22,119,568...22,166,373
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 OMIM
ClinVar
PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 PMID:9536098 More... NCBI chr  X:30,043,033...30,055,861
Ensembl chr  X:30,042,343...30,055,804
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 OMIM
ClinVar
PMID:16199547 PMID:23636107 PMID:24906948 PMID:25741868 PMID:25943031 More... NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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 OMIM
ClinVar
PMID:25741868 PMID:32220291 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
JBrowse link
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr 6:40,836,121...40,864,129
Ensembl chr 6:40,836,097...40,864,128
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 OMIM
ClinVar
PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29807643 NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327
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 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
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 OMIM
ClinVar
PMID:21572413 PMID:25326635 PMID:25741868 PMID:26802095 PMID:28492532 More... NCBI chr 3:15,165,220...15,226,697
Ensembl chr 3:15,165,220...15,226,697
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 with or without ataxia, mental retardation, and seizures OMIM
ClinVar
PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 1 | ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome
DNA:duplication:exon:c.428-451dup (human)
OMIM
ClinVar
RGD
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... RGD:11565843 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
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 PMID:28492532 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency OMIM
ClinVar
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 2:185,906,964...185,936,160
Ensembl chr 2:185,906,966...185,935,944
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: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar
PMID:23913001 PMID:24033266 PMID:25741868 PMID:28318089 PMID:28492532 NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
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: PSAT deficiency OMIM
ClinVar
PMID:9536098 PMID:17436247 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
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 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16385454 PMID:16452482 PMID:17576681 More... NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar PMID:22279524 PMID:25500575 PMID:28492532 NCBI chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008
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 Ankhd1 ankyrin repeat and KH domain containing 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,161,882...28,260,917
Ensembl chr18:28,162,311...28,268,024
JBrowse link
G Apbb3 amyloid beta precursor protein binding family B member 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,273,168...28,280,347
Ensembl chr18:28,270,545...28,280,094
JBrowse link
G Brd8 bromodomain containing 8 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,181,744...26,230,035
Ensembl chr18:26,181,732...26,229,884
JBrowse link
G Cd14 CD14 molecule ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cdc23 cell division cycle 23 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,236,891...26,260,611
Ensembl chr18:26,236,890...26,291,163
JBrowse link
G Cdc25c cell division cycle 25C ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,335,156...26,356,199
Ensembl chr18:26,335,834...26,356,185
JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
JBrowse link
G Cxxc5 CXXC finger protein 5 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,427,591...27,458,579
Ensembl chr18:27,427,230...27,458,673
JBrowse link
G Cystm1 cysteine-rich transmembrane module containing 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,945,862...28,013,509
Ensembl chr18:27,951,653...28,013,510
JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172
JBrowse link
G Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,269,345...27,303,471
Ensembl chr18:27,269,355...27,298,344
JBrowse link
G Dnd1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316
JBrowse link
G Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,309,711...27,319,106
Ensembl chr18:27,309,718...27,319,032
JBrowse link
G Egr1 early growth response 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,263,089...28,268,033
Ensembl chr18:28,162,311...28,268,024
JBrowse link
G Etf1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,502,413...26,530,753
Ensembl chr18:26,504,080...26,530,810
JBrowse link
G Fam13b family with sequence similarity 13, member B ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,040,285...26,107,112
Ensembl chr18:26,040,285...26,106,587
JBrowse link
G Fam53c family with sequence similarity 53, member C ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,364,050...26,378,173
Ensembl chr18:26,364,039...26,376,775
JBrowse link
G Gfra3 GDNF family receptor alpha 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,297,828...26,326,105
Ensembl chr18:26,297,829...26,326,105
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747
JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441
JBrowse link
G Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr17:6,507,413...6,509,373
Ensembl chr17:6,507,275...6,509,375
JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
JBrowse link
G Igip IgA-inducing protein ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,904,573...27,905,513 JBrowse link
G Ik IK cytokine ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,358,004...28,372,809
Ensembl chr18:28,357,977...28,378,832
JBrowse link
G Kdm3b lysine demethylase 3B ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628
JBrowse link
G Kif20a kinesin family member 20A ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,230,294...26,238,780
Ensembl chr18:26,230,230...26,238,780
JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154
JBrowse link
G LOC690826 similar to protocadherin beta 16 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G Lrrtm2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,817,816...26,822,864
Ensembl chr18:26,817,816...26,822,864
JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166
JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841
JBrowse link
G Mzb1 marginal zone B and B1 cell-specific protein ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,238,999...27,241,060
Ensembl chr18:27,239,001...27,241,094
JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,355,774...28,357,863
Ensembl chr18:28,355,774...28,358,076
JBrowse link
G Nme5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,163,558...26,180,742
Ensembl chr18:26,163,555...26,180,794
JBrowse link
G Nrg2 neuregulin 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,619,635...27,798,505
Ensembl chr18:27,619,661...27,798,505
JBrowse link
G Paip2 poly(A) binding protein interacting protein 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,199,762...27,218,359
Ensembl chr18:27,199,796...27,214,863
JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G Pcdha11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G Pcdha12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G Pcdha13 protocadherin alpha 13 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,581,225...28,846,211
JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,740,353...28,750,216 JBrowse link
G Pcdhac2 protocadherin alpha subfamily C, 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdhb1 protocadherin beta 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,912,738...28,916,746
Ensembl chr18:28,913,989...28,916,445
JBrowse link
G Pcdhb15 protocadherin beta 15 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G Pcdhb16 protocadherin beta 16 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,185,405...29,195,669
Ensembl chr18:29,192,124...29,200,539
JBrowse link
G Pcdhb19 protocadherin beta 19 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,203,188...29,207,632 JBrowse link
G Pcdhb2 protocadherin beta 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,005,996...29,008,782
Ensembl chr18:29,005,996...29,008,782
JBrowse link
G Pcdhb20 protocadherin beta 20 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,211,883...29,215,258
Ensembl chr18:29,211,883...29,215,258
JBrowse link
G Pcdhb21 protocadherin beta 21 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,215,434...29,229,138
Ensembl chr18:29,218,225...29,221,142
JBrowse link
G Pcdhb22 protocadherin beta 22 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 Ensembl chr18:29,223,149...29,225,536 JBrowse link
G Pcdhb3 protocadherin beta 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,011,667...29,014,221
Ensembl chr18:29,011,816...29,015,188
JBrowse link
G Pcdhb5 protocadherin beta 5 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,024,315...29,032,183
Ensembl chr18:29,028,382...29,053,259
JBrowse link
G Pcdhb6l protocadherin beta-6-like ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,144,241...29,149,869
Ensembl chr18:29,146,313...29,148,703
JBrowse link
G Pcdhb8 protocadherin beta 8 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,065,466...29,067,805
Ensembl chr18:29,065,466...29,067,805
JBrowse link
G Pcdhga1 protocadherin gamma subfamily A, 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,487,404...29,667,865
Ensembl chr18:29,487,482...29,492,857
Ensembl chr18:29,487,482...29,492,857
JBrowse link
G Pcdhga10 protocadherin gamma subfamily A, 10 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,574,693...29,667,865
Ensembl chr18:29,493,954...29,667,868
JBrowse link
G Pcdhga11 protocadherin gamma subfamily A, 11 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,583,373...29,667,865
Ensembl chr18:29,493,954...29,667,868
JBrowse link
G Pcdhga2 protocadherin gamma subfamily A, 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,493,954...29,667,865
Ensembl chr18:29,493,954...29,667,868
JBrowse link
G Pcdhga3 protocadherin gamma subfamily A, 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,499,148...29,667,865
Ensembl chr18:29,493,954...29,667,868
JBrowse link
G Pcdhga4 protocadherin gamma subfamily A, 4 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,508,152...29,543,103 JBrowse link
G Pcdhga5 protocadherin gamma subfamily A, 5 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,519,705...29,667,865
Ensembl chr18:29,493,954...29,667,868
JBrowse link
G Pcdhga6 protocadherin gamma subfamily A, 6 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G Pcdhga7 protocadherin gamma subfamily A, 7 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,543,018...29,667,865
Ensembl chr18:29,493,954...29,667,868
JBrowse link
G Pcdhga8 protocadherin gamma subfamily A, 8 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,553,882...29,667,865
Ensembl chr18:29,493,954...29,667,868
JBrowse link
G Pcdhga9 protocadherin gamma subfamily A, 9 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,564,614...29,667,865 JBrowse link
G Pcdhgb1 protocadherin gamma subfamily B, 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,501,739...29,508,024 JBrowse link
G Pcdhgb4 protocadherin gamma subfamily B, 4 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G Pcdhgb5 protocadherin gamma subfamily B, 5 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G Pcdhgb6 protocadherin gamma subfamily B, 6 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G Pcdhgb7 protocadherin gamma subfamily B, 7 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,579,129...29,667,868
Ensembl chr18:29,493,954...29,667,868
JBrowse link
G Pcdhgb8 protocadherin gamma subfamily B, 8 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,588,327...29,667,865
Ensembl chr18:29,493,954...29,667,868
JBrowse link
G Pcdhgc3 protocadherin gamma subfamily C, 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,633,016...29,667,865
Ensembl chr18:29,493,954...29,667,868
JBrowse link
G Pfdn1 prefoldin subunit 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,014,145...28,067,148
Ensembl chr18:28,014,145...28,067,064
JBrowse link
G Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,007,789...26,042,428
Ensembl chr18:26,007,797...26,042,428
JBrowse link
G Prob1 proline-rich basic protein 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,242,511...27,249,053
Ensembl chr18:27,244,280...27,247,333
JBrowse link
G Psd2 pleckstrin and Sec7 domain containing 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,564,912...27,616,674
Ensembl chr18:27,565,587...27,616,672
JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,884,618...27,905,500
Ensembl chr18:27,884,556...27,905,513
JBrowse link
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,438,130...26,447,165
Ensembl chr18:26,438,346...26,447,161
JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,214,940...27,230,564
Ensembl chr18:27,216,281...27,230,697
JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,452,943...29,457,906
Ensembl chr18:29,453,582...29,460,383
JBrowse link
G Slc35a4 solute carrier family 35, member A4 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,280,483...28,284,610
Ensembl chr18:28,279,750...28,284,725
JBrowse link
G Slc4a9 solute carrier family 4 member 9 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,128,740...28,144,554
Ensembl chr18:28,128,740...28,141,543
JBrowse link
G Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,249,047...27,257,129
Ensembl chr18:27,248,609...27,257,124
JBrowse link
G Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr17:6,741,504...7,221,685
Ensembl chr17:6,742,273...7,224,935
JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,269,192...28,273,023
Ensembl chr18:28,269,311...28,272,538
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
JBrowse link
G Taf7 TATA-box binding protein associated factor 7 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:29,459,937...29,462,086
Ensembl chr18:29,452,943...29,462,134
JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,349,248...28,355,843
Ensembl chr18:28,349,248...28,355,843
JBrowse link
G Ube2d2 ubiquitin-conjugating enzyme E2D 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:27,364,665...27,405,589
Ensembl chr18:27,364,303...27,406,181
JBrowse link
G Wnt8a Wnt family member 8A ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:26,137,690...26,143,283
Ensembl chr18:26,137,690...26,143,283
JBrowse link
G Zmat2 zinc finger, matrin type 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr18:28,409,606...28,414,241
Ensembl chr18:28,398,795...28,414,747
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 OMIM
ClinVar
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 More... NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
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: MINDS SYNDROME | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar
PMID:23636326 PMID:24631838 PMID:25741868 PMID:25851998 PMID:26542245 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects OMIM
ClinVar
PMID:10980529 PMID:11477212 PMID:12325075 PMID:15180870 PMID:16949238 More... NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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
OMIM
ClinVar
CTD
PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:30,572,746...30,598,961
Ensembl chr  X:30,572,751...30,597,262
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688
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
RGD
PMID:10407778 PMID:20109543 PMID:21935729 PMID:2753001 RGD:9588535, RGD:10047087, RGD:10047056 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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
RGD
PMID:17437408 PMID:12423380 RGD:8657333 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 treatment ISO
IMP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16504477 PMID:12663688 RGD:704399 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:17945527 PMID:20547083 PMID:25741868 PMID:28492532 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266720 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:19941057 PMID:27083141 NCBI chr12:19,407,359...19,413,713
Ensembl chr12:19,407,360...19,413,651
JBrowse link
G Acot8 acyl-CoA thioesterase 8 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:153,531,192...153,542,851
Ensembl chr 3:153,531,193...153,542,851
JBrowse link
G Acp2 acid phosphatase 2, lysosomal ISO RGD PMID:9228031 RGD:1300245 NCBI chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680
JBrowse link
G Actl6b actin-like 6B ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr12:19,124,887...19,141,419
Ensembl chr12:19,124,916...19,141,376
JBrowse link
G Actr5 actin related protein 5 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:147,282,461...147,296,110
Ensembl chr 3:147,282,624...147,296,110
JBrowse link
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:32581362 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Adam22 ADAM metallopeptidase domain 22 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 4:25,716,055...25,970,932
Ensembl chr 4:25,715,990...25,964,962
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 chr11:24,932,227...24,941,068
Ensembl chr11:24,931,761...24,941,103
JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO RGD PMID:10894545 RGD:1300255 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29673861 NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
JBrowse link
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:24033266 PMID:28492532 NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
JBrowse link
G Adig adipogenin ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:147,155,021...147,160,413
Ensembl chr 3:147,154,097...147,160,490
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with metabolic syndrome X; RGD PMID:21976521 RGD:5686407 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28221363 PMID:29475819 More... NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19488739 NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
JBrowse link
G Adra1b adrenoceptor alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19125850 NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919
JBrowse link
G Adra2b adrenoceptor alpha 2B ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355
JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16771832 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Aif1 allograft inflammatory factor 1 IEP protein:increased expression:brain (rat) RGD PMID:16635480 RGD:2313039 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
JBrowse link
G Alad aminolevulinate dehydratase IEP
ISO
protein:decreased activity:brain, liver (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19798568 PMID:17320826 RGD:4144168 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:28492532 NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:9536098 PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 More... NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:23033978 PMID:23934111 PMID:24781210 PMID:24896178 PMID:25732998 More... NCBI chr  X:107,885,039...107,906,264
Ensembl chr  X:107,885,064...107,893,002
JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:7550313 PMID:27466191 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
JBrowse link
G Amy1 amylase alpha 1 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 2:201,382,678...201,397,487
Ensembl chr 2:201,382,675...201,397,816
JBrowse link
G Ankh ANKH inorganic pyrophosphate transport regulator IEP RGD PMID:12861042 RGD:634632 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 1:135,412,580...135,445,191
Ensembl chr 1:135,412,580...135,445,191
JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 IDA protein:increased activity:hippocampus RGD PMID:11753565 RGD:2325750 NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540
JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310
JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 IEP
ISO
protein:increased expression:neuron
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20446108 PMID:15854596 RGD:2302852 NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266720 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G App amyloid beta precursor protein ISO associated with Alzheimer Disease; RGD PMID:25879152 RGD:10054263 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Arc activity-regulated cytoskeleton-associated protein IEP RGD PMID:23744421 RGD:10395306 NCBI chr 7:106,555,968...106,559,697
Ensembl chr 7:106,555,785...106,559,378
JBrowse link
G Arfgap1 ADP-ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933
JBrowse link
G Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr 5:8,982,061...9,076,326
Ensembl chr 5:8,981,540...9,076,326
JBrowse link
G Arhgap40 Rho GTPase activating protein 40 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:147,203,042...147,206,546
Ensembl chr 3:147,165,729...147,207,203
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:15057123 PMID:22405089 PMID:25741868 PMID:27474218 PMID:28323383 More... NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Arpin actin-related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 1:133,864,288...133,873,124
Ensembl chr 1:133,864,265...133,873,124
JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr  X:65,699,881...65,712,224
Ensembl chr  X:65,698,699...65,712,153
JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr20:32,893,962...32,908,808
Ensembl chr20:32,893,573...32,908,808
JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
JBrowse link
G Asic1 acid sensing ion channel subunit 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr 7:130,798,317...130,828,535
Ensembl chr 7:130,799,917...130,828,541
JBrowse link
G Aspm assembly factor for spindle microtubules susceptibility ISO RGD PMID:16141009 RGD:1599300 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24631656 More... NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit C ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr10:13,196,204...13,202,580
Ensembl chr10:13,196,204...13,201,500
JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634
JBrowse link
G Bad BCL2-associated agonist of cell death IEP protein:decreased phosphorylation:hippocampus RGD PMID:15968425 RGD:2292693 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Bag3 BAG cochaperone 3 IEP protein:increased expression:hippocampus, astrocyte RGD PMID:12085992 RGD:2325847 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: therapeutic CTD PMID:8667461 PMID:18597747 PMID:20971807 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Bckdk branched chain ketoacid dehydrogenase kinase ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:26467025 PMID:28492532 NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633
JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr  X:127,516,504...127,584,529
Ensembl chr  X:127,537,538...127,584,087
JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9073163 PMID:15781040 PMID:21269288 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Bet1 Bet1 golgi vesicular membrane trafficking protein ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr 4:32,116,232...32,126,592
Ensembl chr 4:32,116,235...32,126,617
JBrowse link
G Bex3 brain expressed X-linked 3 treatment IEP RGD PMID:12873743 RGD:9743975 NCBI chr  X:99,273,238...99,274,799
Ensembl chr  X:99,273,161...99,274,800
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:30054298 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
JBrowse link
G Blcap BLCAP, apoptosis inducing factor ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:146,222,699...146,232,859
Ensembl chr 3:146,222,240...146,232,909
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:12358323 PMID:25741868 NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
JBrowse link
G Bpi bactericidal/permeability-increasing protein ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:146,909,626...146,936,487
Ensembl chr 3:146,909,629...146,936,221
JBrowse link
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:10923033 PMID:18779604 PMID:20104584 PMID:25741868 PMID:26467025 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Brd1 bromodomain containing 1 IEP RGD PMID:22675730 RGD:9586108 NCBI chr 7:119,774,187...119,822,031
Ensembl chr 7:119,774,188...119,822,031
JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 4:146,456,344...146,472,781
Ensembl chr 4:146,456,318...146,472,649
JBrowse link
G Bsn bassoon (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 8:108,784,849...108,875,819
Ensembl chr 8:108,788,542...108,875,819
JBrowse link
G C1qtnf9 C1q and TNF related 9 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr15:34,907,791...34,922,985
Ensembl chr15:34,911,286...34,922,980
JBrowse link
G C7 complement C7 IDA Protein:increased activity:brain RGD PMID:12574424 RGD:1599523 NCBI chr 2:54,088,116...54,165,102
Ensembl chr 2:54,088,116...54,158,535
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Seizure ClinVar
RGD
PMID:26467025 PMID:28492532 PMID:9060410 RGD:10054423 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:33818783 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25074461 NCBI chr 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 7:109,572,838...109,698,516
Ensembl chr 7:109,574,459...109,697,227
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Calhm4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr20:25,990,164...25,993,173
Ensembl chr20:25,990,462...25,993,173
JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr20:26,066,270...26,072,348
Ensembl chr20:26,066,242...26,072,272
JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr20:26,095,591...26,097,336
Ensembl chr20:26,095,592...26,097,278
JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 5:161,510,283...162,356,902
Ensembl chr 5:161,510,283...162,356,723
JBrowse link
G Casp1 caspase 1 IMP RGD PMID:16886979 RGD:2315919 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:18096215 PMID:19616071 PMID:20592767 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: therapeutic CTD PMID:6265841 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP protein:increased expression:hippocampus, vasculature (rat) RGD PMID:20940264 RGD:4889880 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccn5 cellular communication network factor 5 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:152,491,247...152,502,639
Ensembl chr 3:152,491,220...152,502,636
JBrowse link
G Ccnb1 cyclin B1 IEP protein:increased expression:hippocampus CA1, neuron RGD PMID:16242239 RGD:2315994 NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172
JBrowse link
G Ccnd1 cyclin D1 IEP protein:increased expression:hippocampus, cerebral cortex RGD PMID:16696308 RGD:2289147 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:24705253 PMID:25741868 PMID:33818783 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 resistance IMP RGD PMID:20940264 RGD:4889880 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd36 CD36 molecule ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25074461 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:32581362 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cdh22 cadherin 22 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:153,845,563...153,970,630
Ensembl chr 3:153,845,787...153,970,588
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
JBrowse link
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
JBrowse link
G Cdk20 cyclin-dependent kinase 20 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr17:701,122...707,869
Ensembl chr17:701,124...707,826
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizure
DNA:deletion, missense, nonsense mutations:cds:
CTD
ClinVar
RGD
PMID:22264704 PMID:25741868 PMID:22264704 RGD:12791013 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
JBrowse link
G Chat choline O-acetyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19941057 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:33944996 NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291
JBrowse link
G Chd6 chromodomain helicase DNA binding protein 6 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:149,596,509...149,757,765
Ensembl chr 3:149,596,509...149,757,755
JBrowse link
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516
JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
JBrowse link
G Chl1 cell adhesion molecule L1-like ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr 4:136,291,504...136,505,830
Ensembl chr 4:136,291,463...136,503,265
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 1:205,567,046...205,583,001
Ensembl chr 1:205,567,220...205,582,356
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:24950454 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr15:40,342,317...40,358,601
Ensembl chr15:40,342,317...40,358,601
JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15275829 PMID:15469883 RGD:1599607 NCBI chr 8:55,401,981...55,415,012
Ensembl chr 8:55,401,702...55,415,165
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure
CTD
ClinVar
PMID:10563623 PMID:10643924 PMID:10942032 PMID:11904236 PMID:12887446 More... NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:9495872 PMID:14996991 NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
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 1:116,715,286...116,837,223
Ensembl chr 1:116,714,711...116,837,240
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Generalized seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:11906688 PMID:18414213 PMID:20736995 PMID:21703448 PMID:25741868 More... NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14996991 PMID:15275829 NCBI chr 8:55,418,379...55,436,967
Ensembl chr 8:55,418,313...55,437,027
JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
JBrowse link
G Cilk1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 8:78,984,075...79,042,695
Ensembl chr 8:78,984,258...79,042,691
JBrowse link
G Cinp cyclin-dependent kinase 2-interacting protein ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:26539891 NCBI chr 6:129,878,618...129,899,575
Ensembl chr 6:129,885,570...129,899,480
JBrowse link
G Cit citron rho-interacting serine/threonine kinase ISO
IAGP
RGD PMID:11086988 PMID:10219263 RGD:734780, RGD:13204836 NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
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: Seizure ClinVar PMID:17762171 PMID:28492532 NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
JBrowse link
G Clcn4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:23,729,194...23,795,391
Ensembl chr  X:23,729,338...23,793,238
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32037395 NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:9662406 PMID:18414213 PMID:20157158 PMID:21990111 PMID:22727047 More... NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:14997940 More... NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
JBrowse link
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:21990111 PMID:25741868 PMID:26467025 PMID:26657971 PMID:28454995 More... NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266720 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Clvs2 clavesin 2 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 1:23,735,272...23,762,997
Ensembl chr 1:23,735,272...23,842,692
JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23027747 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
JBrowse link
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:12954810 PMID:26460022 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Cntn2 contactin 2 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr13:43,942,868...43,975,973
Ensembl chr13:43,947,265...43,975,887
JBrowse link
G Cntnap2 contactin associated protein 2 ISO
IMP
ClinVar Annotator: match by term: Seizure
DNA:deletions:
ClinVar
RGD
PMID:25741868 PMID:19896112 PMID:28364455 PMID:28364455 RGD:13450912, RGD:12880397, RGD:12880397 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
JBrowse link
G Cntnap2em1Sage contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:28364455 RGD:12880397
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
JBrowse link
G Col20a1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 3:168,102,475...168,134,759
Ensembl chr 3:168,084,560...168,135,309
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 5:8,559,745...8,888,492
Ensembl chr 5:8,526,741...8,888,485
JBrowse link
G Cplx1 complexin 1 ISO RGD PMID:11163241 RGD:734813 NCBI chr14:1,184,638...1,216,392 JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:8682496 PMID:9600456 PMID:12673791 PMID:17709715 PMID:18363739 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr 7:29,940,240...29,952,907
Ensembl chr 7:29,798,586...29,952,907
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizure
CTD
ClinVar
PMID:1596084 PMID:1700951 PMID:1914160 PMID:7821275 PMID:8923670 More... NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
JBrowse link
G Csnk2b casein kinase 2 beta ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 PMID:33644862 PMID:34041744 NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
JBrowse link
G Cstb cystatin B IEP
ISO
mRNA, protein:increased expression:brain
ClinVar Annotator: match by term: Seizure
ClinVar
RGD
PMID:25741868 PMID:26467025 PMID:28492532 PMID:10792446 RGD:729930 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
JBrowse link
G Ctnnbl1 catenin, beta like 1 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:146,387,940...146,548,987
Ensembl chr 3:146,387,889...146,548,987
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:32581362 NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215
JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:10218883 PMID:16670177 PMID:17576681 PMID:25741868 More... NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:17828264 PMID:25741868 PMID:26467025 PMID:27120077 PMID:28492532 NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525
JBrowse link
G Ctss cathepsin S ISO protein:increased expression:hippocampus CA1, microglial cell RGD PMID:17997037 RGD:5686910 NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:8135271 PMID:17273978 PMID:25741868 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688
JBrowse link
G Cyfip2 cytoplasmic FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:21107423 PMID:25741868 PMID:26582918 PMID:28492532 PMID:29534297 More... NCBI chr10:30,621,318...30,741,113
Ensembl chr10:30,621,318...30,741,113
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19125849 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
JBrowse link
G Daam1 dishevelled associated activator of morphogenesis 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr 6:90,389,544...90,550,114
Ensembl chr 6:90,389,688...90,550,114
JBrowse link
G Dbndd2 dysbindin domain containing 2 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:153,193,213...153,220,651
Ensembl chr 3:153,191,090...153,220,651
JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr20:31,618,556...31,711,697
Ensembl chr20:31,618,542...31,711,692
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:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Ddx54 DEAD-box helicase 54 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:31256877 NCBI chr12:35,934,713...35,949,956
Ensembl chr12:35,934,716...35,972,523
JBrowse link
G Dennd5a DENN domain containing 5A ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:27431290 PMID:27866705 PMID:28492532 NCBI chr 1:163,928,183...163,994,207
Ensembl chr 1:163,928,183...163,994,316
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:14510823 PMID:20864493 PMID:23542697 PMID:23542701 PMID:23869883 More... NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454
JBrowse link
G Dhx16 DEAH-box helicase 16 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:31256877 NCBI chr20:2,862,000...2,874,991
Ensembl chr20:2,862,000...2,874,948
JBrowse link
G Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:29100085 NCBI chr 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381
JBrowse link
G Dhx34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:31256877 NCBI chr 1:76,880,867...76,905,148
Ensembl chr 1:76,880,867...76,905,113
JBrowse link
G Dhx35 DEAH-box helicase 35 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:147,450,163...147,507,473
Ensembl chr 3:147,450,163...147,507,451
JBrowse link
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:31256877 NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802
JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 IMP RGD PMID:17437412 RGD:6907384 NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202
JBrowse link
G Dlg3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr  X:65,859,653...65,911,887
Ensembl chr  X:65,860,172...65,910,322
JBrowse link
G Dlgap4 DLG associated protein 4 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:32581362 NCBI chr 3:145,124,189...145,271,791
Ensembl chr 3:145,175,479...145,270,490
JBrowse link
G Dmap1 DNA methyltransferase 1-associated protein 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr 5:131,143,726...131,151,760
Ensembl chr 5:131,143,729...131,151,742
JBrowse link
G Dmtf1 cyclin D binding myb-like transcription factor 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25074461 NCBI chr 4:24,909,937...24,950,786
Ensembl chr 4:24,910,534...24,950,967
JBrowse link
G Dnah7 dynein, axonemal, heavy chain 7 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 9:54,960,235...55,266,529
Ensembl chr 9:54,960,440...55,262,297
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
JBrowse link
G Dnttip1 deoxynucleotidyltransferase, terminal, interacting protein 1 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:153,481,718...153,505,403
Ensembl chr 3:153,481,705...153,505,759
JBrowse link
G Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813
JBrowse link
G Dph5 diphthamide biosynthesis 5 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 2:203,804,620...203,858,196
Ensembl chr 2:203,804,936...203,840,433
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
G Drd1 dopamine receptor D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1451735 PMID:1829682 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1829682 PMID:7936204 PMID:11860278 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Drd3 dopamine receptor D3 IEP
ISO
mRNA, increased expression:accumbens nucleus
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:18566292 PMID:11597777 RGD:5686415 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992
JBrowse link
G Dsn1 DSN1 component of MIS12 kinetochore complex ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:145,652,741...145,668,025
Ensembl chr 3:145,652,737...145,665,856
JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP protein:increased expression:brain RGD PMID:8883936 PMID:8626780 RGD:2298690, RGD:728656 NCBI chr10:16,680,489...16,683,276 JBrowse link
G Dusp6 dual specificity phosphatase 6 IEP mRNA:increased expression:brain RGD PMID:15496935 PMID:8626780 RGD:2316089, RGD:728656 NCBI chr 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:29671837 PMID:33818783 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 More... NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Eef1b2 eukaryotic translation elongation factor 1 beta 2 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 9:64,580,009...64,582,737
Ensembl chr 9:64,579,893...64,582,737
JBrowse link
G Efhc1 EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:23,375,815...23,414,283
Ensembl chr 9:23,375,840...23,414,283
JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
JBrowse link
G Egr1 early growth response 1 IEP RGD PMID:23744421 RGD:10395306 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601
JBrowse link
G Elapor2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25074461 NCBI chr 4:24,613,163...24,805,729
Ensembl chr 4:24,613,163...24,805,729
JBrowse link
G Elmo2 engulfment and cell motility 2 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:154,023,661...154,061,259
Ensembl chr 3:154,023,661...154,061,185
JBrowse link
G Emilin3 elastin microfibril interfacer 3 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:149,558,785...149,564,785
Ensembl chr 3:149,558,970...149,564,785
JBrowse link
G Emx2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 1:258,626,584...258,633,594
Ensembl chr 1:258,626,584...258,633,594
JBrowse link
G Endog endonuclease G IEP RGD PMID:20077427 RGD:9685392 NCBI chr 3:13,449,113...13,451,715
Ensembl chr 3:13,449,086...13,451,932
JBrowse link
G Eno2 enolase 2 IEP protein:altered expression:cerebrospinal fluid RGD PMID:15464860 RGD:5509052 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:11735300 PMID:14706656 PMID:16021330 PMID:17010495 PMID:17389303 More... NCBI chr 1:5,727,111...5,845,338
Ensembl chr 1:5,727,066...5,920,555
JBrowse link
G Epo erythropoietin treatment IDA RGD PMID:23518641 RGD:10401076 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Eppin epididymal peptidase inhibitor ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:153,312,396...153,319,310
Ensembl chr 3:153,312,396...153,319,310
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 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
JBrowse link
G Erg ETS transcription factor ERG ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
JBrowse link
G Ermard ER membrane-associated RNA degradation ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 1:55,983,312...56,004,569
Ensembl chr 1:55,983,403...56,002,687
JBrowse link
G Extl2 exostosin-like glycosyltransferase 2 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 2:203,922,217...203,946,940
Ensembl chr 2:203,922,187...203,943,653
JBrowse link
G Eya2 EYA transcriptional coactivator and phosphatase 2 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:154,335,558...154,519,006
Ensembl chr 3:154,335,400...154,518,793
JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: therapeutic CTD PMID:25933444 NCBI chr 5:129,479,774...129,499,018
Ensembl chr 5:129,479,824...129,498,677
JBrowse link
G Fabp7 fatty acid binding protein 7 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr20:37,123,193...37,126,725
Ensembl chr20:37,123,193...37,126,880
JBrowse link
G Fam184a family with sequence similarity 184, member A ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr20:32,934,424...33,056,626
Ensembl chr20:32,934,636...33,056,652
JBrowse link
G Fam83d family with sequence similarity 83, member D ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:147,421,941...147,441,211
Ensembl chr 3:147,421,908...147,441,192
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Fas Fas cell surface death receptor IEP mRNA, protein:increased expression:hippocampus (rat) RGD PMID:11435933 RGD:8662911 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fasn fatty acid synthase ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
JBrowse link
G Fcgr2a Fc gamma receptor 2A susceptibility ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.R131H (human) RGD PMID:17596285 RGD:5508454 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) RGD PMID:17596285 RGD:5508454 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21269288 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IEP protein:increased expression:cerebral cortex,hippocampus,neuron, astrocyrte: RGD PMID:8072686 RGD:10402045 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fitm2 fat storage-inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858
JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:21937992 PMID:25741868 PMID:27535533 PMID:27884173 PMID:28492532 More... NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667
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 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit IEP protein:increased expression:hippocampus RGD PMID:11488404 RGD:2293787 NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
JBrowse link
G Foxg1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18627055 NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
JBrowse link
G Frrs1l ferric-chelate reductase 1-like ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:21147040 PMID:25741868 PMID:27236917 PMID:27239025 PMID:28492532 More... NCBI chr 5:71,655,911...71,690,132
Ensembl chr 5:71,659,284...71,690,108
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 chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994
JBrowse link
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizure
CTD
ClinVar
PMID:16530959 PMID:16569738 PMID:18414213 PMID:24623842 PMID:24909990 More... NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizure
CTD
ClinVar
PMID:8985701 NCBI chr 1:108,268,728...108,381,670
Ensembl chr 1:108,268,776...108,380,917
JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr10:26,810,411...26,825,768
Ensembl chr10:26,810,423...26,825,769
JBrowse link
G Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr14:36,068,725...36,548,946
Ensembl chr14:36,080,393...36,548,948
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:18514161 PMID:19935738 PMID:20550555 PMID:25726841 PMID:25741868 More... NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:23708187 PMID:25726841 PMID:25730860 PMID:25741868 PMID:26467025 More... NCBI chr10:26,376,805...26,463,680
Ensembl chr10:26,374,694...26,464,346
JBrowse link
G Gad2 glutamate decarboxylase 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:8954991 PMID:8985701 PMID:8954991 RGD:1302511 NCBI chr17:84,763,630...84,826,155
Ensembl chr17:84,763,628...84,826,155
JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizure
CTD
ClinVar
PMID:15651030 NCBI chr 7:9,448,590...9,451,778
Ensembl chr 7:9,448,628...9,451,778
JBrowse link
G Gap43 growth associated protein 43 IEP RGD PMID:11054811 RGD:9685329 NCBI chr11:58,376,371...58,470,047
Ensembl chr11:58,376,371...58,470,045
JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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 3:152,110,225...152,129,693
Ensembl chr 3:152,110,253...152,128,711
JBrowse link
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr  X:65,826,273...65,835,361
Ensembl chr  X:65,826,574...65,835,361
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Seizures ClinVar PMID:10984309 PMID:25741868 PMID:28492532 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:19429016 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
JBrowse link
G Gja1 gap junction protein, alpha 1 IEP
ISO
ClinVar Annotator: match by term: Seizure ClinVar
RGD
PMID:14622215 RGD:1299355 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Gjb6 gap junction protein, beta 6 IEP RGD PMID:23149765 RGD:7364770 NCBI chr15:31,284,562...31,295,010
Ensembl chr15:31,284,419...31,294,582
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP RGD PMID:11240587 RGD:6484589 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Glul glutamate-ammonia ligase IDA RGD PMID:21935729 RGD:10047087 NCBI chr13:65,969,064...66,035,121
Ensembl chr13:66,025,630...66,035,108
JBrowse link
G Gnai1 G protein subunit alpha i1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25074461 PMID:25741868 NCBI chr 4:16,813,941...16,898,111
Ensembl chr 4:16,814,001...16,896,417
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 NCBI chr19:11,034,874...11,192,502
Ensembl chr19:11,035,956...11,192,493
JBrowse link
G Gnat3 G protein subunit alpha transducin 3 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25074461 NCBI chr 4:17,162,500...17,212,283
Ensembl chr 4:17,162,490...17,212,283
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Gnb3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18855531 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr20:31,727,617...31,776,928
Ensembl chr20:31,727,620...31,776,903
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19057520 PMID:21549339 More... NCBI chr10:88,585,291...88,605,642
Ensembl chr10:88,586,299...88,605,625
JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
JBrowse link
G Gpld1 glycosylphosphatidylinositol specific phospholipase D1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:28492532 NCBI chr17:40,084,427...40,132,035
Ensembl chr17:40,084,617...40,126,939
JBrowse link
G Gprc6a G protein-coupled receptor, class C, group 6, member A ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:19666089 RGD:4107726 NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
JBrowse link
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 ISO RGD PMID:7502080 RGD:737715 NCBI chr 2:165,949,379...166,069,510
Ensembl chr 2:165,947,521...166,069,510
JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:33818783 NCBI chr  X:120,238,515...120,504,106
Ensembl chr  X:120,238,534...120,504,096
JBrowse link
G Grik1 glutamate ionotropic receptor kainate type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12080343 NCBI chr11:27,169,739...27,571,131
Ensembl chr11:27,169,740...27,570,645
JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:34375587 NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375
JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 IMP RGD PMID:12080343 RGD:625595 NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:20716669 PMID:22246434 PMID:24088041 PMID:25741868 PMID:26633545 More... NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:26467025 PMID:28492532 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Grin2d glutamate ionotropic receptor NMDA type subunit 2D ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 1:96,306,871...96,346,994
Ensembl chr 1:96,308,365...96,344,793
JBrowse link
G Grm3 glutamate metabotropic receptor 3 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25074461 NCBI chr 4:24,364,854...24,643,972
Ensembl chr 4:24,365,115...24,609,804
JBrowse link
G Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr 4:143,730,862...144,613,230
Ensembl chr 4:143,731,259...144,612,344
JBrowse link
G Grm8 glutamate metabotropic receptor 8 IDA RGD PMID:17434465 RGD:6771182 NCBI chr 4:55,805,762...56,731,690
Ensembl chr 4:55,805,955...56,730,831
JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:9536098 PMID:16950801 PMID:17202431 PMID:17228326 PMID:17345602 More... NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
JBrowse link
G Gtsf1l gametocyte specific factor 1-like ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:151,736,020...151,736,764
Ensembl chr 3:151,735,997...151,736,863
JBrowse link
G Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:26437029 PMID:32581362 NCBI chr20:49,035,312...49,151,103
Ensembl chr20:49,035,648...49,151,103
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP
ISO
ClinVar Annotator: match by term: Seizure
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:20384728 PMID:17988239 RGD:9686135 NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 IEP
ISO
ClinVar Annotator: match by term: Seizure ClinVar
RGD
PMID:17988239 RGD:9686135 NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
JBrowse link
G Hdac2 histone deacetylase 2 IEP protein:increased expression:hippocampus & cortex: RGD PMID:21987499 RGD:9590259 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hdac4 histone deacetylase 4 ISO RGD PMID:19672313 RGD:9681457 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hgf hepatocyte growth factor ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25074461 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138
JBrowse link
G Hivep1 HIVEP zinc finger 1 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr17:22,585,016...22,714,517
Ensembl chr17:22,585,016...22,711,956
JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr20:30,230,488...30,332,161
Ensembl chr20:30,230,486...30,332,131
JBrowse link
G Hlcs holocarboxylase synthetase ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Focal seizures ClinVar PMID:32581362 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25326635 PMID:25741868 PMID:28815871 NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588
JBrowse link
G Hrh3 histamine receptor H3 IDA RGD PMID:15319804 RGD:1626432 NCBI chr 3:167,191,551...167,196,642
Ensembl chr 3:167,191,558...167,196,642
JBrowse link
G Hsf2 heat shock transcription factor 2 ISO ClinVar Annotator: match by term: Seizure ClinVar NCBI chr20:36,819,864...36,847,490
Ensembl chr20:36,819,864...36,850,174
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
G Hspa5 heat shock protein family A (Hsp70) member 5 IEP protein:increased expression:hippocampus: RGD PMID:25219120 RGD:11354919 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A