RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | visual pathway disease |
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Accession: | DOID:1393
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browse the term
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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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Slc29a1 |
solute carrier family 29 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21283641 |
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NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005
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Slc6a3 |
solute carrier family 6 member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27219321 |
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NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
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Slc35a3 |
solute carrier family 35 member A3 |
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ISO |
ClinVar Annotator: match by OMIM:615553 ClinVar Annotator: match by term: Arthrogryposis, mental retardation, and seizures |
OMIM ClinVar |
PMID:16199547 PMID:24031089 PMID:25741868 PMID:28328131 PMID:28492532 PMID:28777481 |
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NCBI chr 2:219,705,618...219,741,886
Ensembl chr 2:219,705,620...219,741,886
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Apold1 |
apolipoprotein L domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:168,752,142...168,755,024
Ensembl chr 4:168,752,133...168,755,023
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Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
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Ddx47 |
DEAD-box helicase 47 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:168,775,134...168,787,594
Ensembl chr 4:168,775,111...168,787,730
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Emp1 |
epithelial membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:169,161,076...169,181,967
Ensembl chr 4:169,147,243...169,181,966
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Fam234b |
family with sequence similarity 234, member B |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:168,976,797...169,052,750
Ensembl chr 4:168,976,859...169,019,561
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Gprc5a |
G protein-coupled receptor, class C, group 5, member A |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:168,832,937...168,851,650
Ensembl chr 4:168,832,910...168,851,652
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Gprc5d |
G protein-coupled receptor, class C, group 5, member D |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:168,872,897...168,884,925
Ensembl chr 4:168,872,897...168,884,886
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Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES ClinVar Annotator: match by OMIM:613970 |
OMIM ClinVar |
PMID:16537520 PMID:18414213 PMID:20890276 PMID:23160955 PMID:23408766 PMID:23918416 PMID:24272827 PMID:25326635 PMID:25326637 PMID:25356899 PMID:25741868 PMID:25741869 PMID:26350515 PMID:26467025 PMID:27572814 PMID:27616045 PMID:27656287 PMID:27818011 PMID:27839871 PMID:27854218 PMID:28191890 PMID:28283559 PMID:28377535 PMID:28440294 PMID:28492532 PMID:28503605 PMID:28554332 PMID:28708303 PMID:28856709 PMID:30217972 |
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NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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Gsg1 |
germ cell associated 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:169,020,680...169,037,021
Ensembl chr 4:169,020,683...169,036,950
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Hebp1 |
heme binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 |
ClinVar |
PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 |
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NCBI chr 4:168,903,586...168,933,102
Ensembl chr 4:168,903,565...168,933,079
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Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
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ISO |
ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES |
ClinVar OMIM |
PMID:25741868 PMID:27567911 PMID:29545233 |
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NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
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Ctc1 |
CST telomere replication complex component 1 |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 |
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NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
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Stn1 |
STN1 subunit of CST complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
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Ctc1 |
CST telomere replication complex component 1 |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
OMIM ClinVar |
PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25741868 PMID:28492532 PMID:29228254 PMID:29481669 |
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NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
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Pfas |
phosphoribosylformylglycinamidine synthase |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
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Stn1 |
STN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 |
ClinVar OMIM |
PMID:27432940 |
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NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
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Ccdc120 |
coiled-coil domain containing 120 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
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NCBI chr X:15,610,230...15,616,727
Ensembl chr X:15,598,652...15,617,665
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Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 PMID:28492532 |
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NCBI chr X:35,536,396...35,773,204
Ensembl chr X:35,599,258...35,771,711
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Chd2 |
chromodomain helicase DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset ClinVar Annotator: match by OMIM:615369 |
OMIM ClinVar |
PMID:2578359 PMID:9326634 PMID:15955779 PMID:15988005 PMID:22178256 PMID:23020937 PMID:23708187 PMID:24207121 PMID:24614520 PMID:24932903 PMID:25262651 PMID:25326635 PMID:25384982 PMID:25418537 PMID:25741868 PMID:25783594 PMID:26467025 PMID:26615199 PMID:26754451 PMID:26795593 PMID:28074849 PMID:28492532 PMID:29358611 PMID:29720203 PMID:29740950 PMID:30564305 PMID:30868116 PMID:32238909 |
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NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
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Dnm1 |
dynamin 1 |
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ISO |
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RGD |
PMID:27363778 |
RGD:11557016 |
NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
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Fgf12 |
fibroblast growth factor 12 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:27164707 PMID:27830185 |
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NCBI chr11:75,606,360...76,171,078
Ensembl chr11:75,905,443...76,168,989
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Fmr1 |
FMRP translational regulator 1 |
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IEP |
protein:decreased expression:hippocampus, cytosol (rat) |
RGD |
PMID:23831253 |
RGD:11667971 |
NCBI chr X:154,684,924...154,722,369
Ensembl chr X:154,684,935...154,722,314
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Praf2 |
PRA1 domain family, member 2 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
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NCBI chr X:15,618,324...15,620,992
Ensembl chr X:15,618,991...15,620,841
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Rbfox1 |
RNA binding fox-1 homolog 1 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr10:8,312,961...10,437,778
Ensembl chr10:8,312,961...8,654,892
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Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 PMID:28492532 |
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NCBI chr X:35,749,957...35,777,243
Ensembl chr X:35,749,957...35,777,243
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Slc13a5 |
solute carrier family 13 member 5 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:24033266 PMID:24995870 PMID:26384929 PMID:27261973 PMID:27600704 PMID:28492532 |
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NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
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Srgap2 |
SLIT-ROBO Rho GTPase activating protein 2 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr13:48,065,280...48,286,888
Ensembl chr13:48,068,158...48,286,720
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Stxbp1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 PMID:26865513 PMID:26993267 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
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Tbc1d24 |
TBC1 domain family, member 24 |
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ISO |
DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) |
RGD |
PMID:23526554 |
RGD:11537471 |
NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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Wdr45 |
WD repeat domain 45 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
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NCBI chr X:15,621,249...15,627,159
Ensembl chr X:15,621,209...15,627,235
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Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
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ISO |
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
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Fan1 |
FANCD2 and FANCI associated nuclease 1 |
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ISO |
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome |
ClinVar |
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NCBI chr 1:125,182,117...125,209,772
Ensembl chr 1:125,181,838...125,209,727
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Klf13 |
Kruppel-like factor 13 |
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ISO |
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr 1:124,772,596...124,803,363
Ensembl chr 1:124,772,596...124,803,363
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Mir211 |
microRNA 211 |
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ISO |
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome |
ClinVar |
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NCBI chr 1:125,042,119...125,042,224
Ensembl chr 1:125,042,119...125,042,224
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Mtmr10 |
myotubularin related protein 10 |
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ISO |
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome |
ClinVar |
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NCBI chr 1:125,124,743...125,175,857
Ensembl chr 1:125,124,743...125,175,857
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Otud7a |
OTU deubiquitinase 7A |
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ISO ISS |
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome OMIM:612001 |
ClinVar MouseDO |
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NCBI chr 1:124,311,873...124,655,437
Ensembl chr 1:124,625,985...124,653,820
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Trpm1 |
transient receptor potential cation channel, subfamily M, member 1 |
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ISO |
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome |
ClinVar |
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NCBI chr 1:124,983,391...125,101,759
Ensembl chr 1:124,983,452...125,099,573
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Dhx37 |
DEAH-box helicase 37 |
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ISO |
ClinVar Annotator: match by term: Coloboma of optic disc |
ClinVar |
PMID:31256877 |
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NCBI chr12:36,594,058...36,614,165
Ensembl chr12:36,594,047...36,614,210
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Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Coloboma of optic disc |
ClinVar |
PMID:25741868 |
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NCBI chr 3:95,733,810...95,954,987
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Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: Coloboma of optic disc ClinVar Annotator: match by OMIM:120430 |
OMIM ClinVar |
PMID:12721955 PMID:25741868 |
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NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Msx2 |
msh homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis 2 |
OMIM ClinVar |
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 PMID:18786927 PMID:23918290 PMID:23949913 PMID:25741868 PMID:27013732 PMID:28492532 PMID:28808027 |
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NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
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Abhd16b |
abhydrolase domain containing 16B |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:176,985,900...176,987,797
Ensembl chr 3:176,985,900...176,987,796
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Ak1 |
adenylate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,652,143...11,659,135
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Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr X:115,561,329...115,589,792
Ensembl chr X:115,561,332...115,619,505
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Arfrp1 |
ADP-ribosylation factor related protein 1 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:176,857,667...176,865,105
Ensembl chr 3:176,859,151...176,865,103
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Arhgef15 |
Rho guanine nucleotide exchange factor 15 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:23647072 PMID:25741868 PMID:28492532 |
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NCBI chr10:55,532,097...55,545,675
Ensembl chr10:55,532,077...55,544,429
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Arx |
aristaless related homeobox |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human) ClinVar Annotator: match by OMIM:308350 ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12177367 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12640086 PMID:12874418 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:16523516 PMID:17331656 PMID:17480217 PMID:17641262 PMID:17668384 PMID:18414213 PMID:18462864 PMID:19507262 PMID:19606478 PMID:19738637 PMID:20148114 PMID:20300201 PMID:20506206 PMID:21108397 PMID:21204215 PMID:21204226 PMID:21496008 PMID:22922607 PMID:23039062 PMID:23246292 PMID:23757202 PMID:24643514 PMID:24781210 PMID:25741868 PMID:26029707 PMID:26337422 PMID:26467025 PMID:28492532 PMID:29152528 PMID:30255221 PMID:31623504 PMID:32313153, PMID:17664401, PMID:19587282 |
RGD:11565846, RGD:11565838 |
NCBI chr X:62,363,757...62,376,139
Ensembl chr X:62,363,757...62,376,143
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Bbln |
bublin coiled coil protein |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,408,076...11,410,907
Ensembl chr 3:11,408,348...11,410,732
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Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
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Cacna2d2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18487195 PMID:23339110 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 |
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NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
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Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 |
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NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
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Cdhr5 |
cadherin-related family member 5 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,255,118...214,263,848
Ensembl chr 1:214,255,110...214,263,581
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Cdk9 |
cyclin-dependent kinase 9 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,742,269...11,747,117
Ensembl chr 3:11,742,266...11,747,113
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G |
Cend1 |
cell cycle exit and neuronal differentiation 1 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,407,072...214,410,069
Ensembl chr 1:214,408,100...214,408,549
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G |
Cercam |
cerebral endothelial cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:8,421,116...8,444,743
Ensembl chr 3:8,430,829...8,444,851
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G |
Cfap157 |
cilia and flagella associated protein 157 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,813,575...11,820,549
Ensembl chr 3:11,813,575...11,820,549
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G |
Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
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G |
Ciz1 |
CDKN1A interacting zinc finger protein 1 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
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G |
Coq4 |
coenzyme Q4 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:8,349,386...8,357,719
Ensembl chr 3:8,349,185...8,357,871
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G |
Csnk1e |
casein kinase 1, epsilon |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
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NCBI chr 7:120,651,976...120,675,559
Ensembl chr 7:120,651,881...120,672,359
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 |
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NCBI chr 3:51,883,559...52,120,290
Ensembl chr 3:51,883,559...52,120,290
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G |
Cyb561d2 |
cytochrome b561 family, member D2 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 8:116,295,328...116,297,879
Ensembl chr 8:116,295,329...116,297,858
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G |
Deaf1 |
DEAF1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
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G |
Dnajc5 |
DnaJ heat shock protein family (Hsp40) member C5 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
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G |
Dnm1 |
dynamin 1 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
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G |
Dpm2 |
dolichyl-phosphate mannosyltransferase subunit 2, regulatory |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,587,941...11,590,528
Ensembl chr 3:11,587,941...11,590,528
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G |
Drd4 |
dopamine receptor D4 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
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G |
Eef1a2 |
eukaryotic translation elongation factor 1 alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
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G |
Eng |
endoglin |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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G |
Eps8l2 |
EPS8-like 2 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,327,992...214,353,466
Ensembl chr 1:214,328,071...214,353,461
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G |
Fam102a |
family with sequence similarity 102, member A |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,554,084...11,586,315
Ensembl chr 3:11,554,457...11,586,303
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G |
Fndc11 |
fibronectin type III domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:176,721,100...176,724,736
Ensembl chr 3:176,721,827...176,725,837
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G |
Fpgs |
folylpolyglutamate synthase |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,717,667...11,729,694
Ensembl chr 3:11,717,667...11,723,327
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G |
Gabra2 |
gamma-aminobutyric acid type A receptor subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:29422393 |
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NCBI chr14:39,662,411...39,801,082
Ensembl chr14:39,661,968...39,798,302
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G |
Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 |
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NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412
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G |
Gatd1 |
glutamine amidotransferase like class 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,389,006...214,394,451
Ensembl chr 1:214,389,255...214,394,411
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G |
Gle1 |
GLE1 RNA export mediator |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
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G |
Gmeb2 |
glucocorticoid modulatory element binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:176,756,006...176,791,960
Ensembl chr 3:176,753,860...176,791,960
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G |
Gnao1 |
G protein subunit alpha o1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:26467025 PMID:26485252 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28688840 PMID:28747448 PMID:28817111 PMID:29390993 PMID:32581362 |
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NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
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G |
Golga2 |
golgin A2 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,317,328...11,337,569
Ensembl chr 3:11,317,183...11,336,458
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G |
Got2 |
glutamic-oxaloacetic transaminase 2 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:25741868 PMID:31422819 |
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NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
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G |
Hcn1 |
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
CTD ClinVar |
PMID:20437590 PMID:22131395 PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 PMID:28488083 PMID:28492532 |
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NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
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G |
Helz2 |
helicase with zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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NCBI chr 3:176,730,024...176,744,382
Ensembl chr 3:176,731,769...176,744,377
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G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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G |
Irf7 |
interferon regulatory factor 7 |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:214,249,388...214,252,909
Ensembl chr 1:214,248,837...214,252,456
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G |
Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 |
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NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
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G |
Kcnb1 |
potassium voltage-gated channel subfamily B member 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
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G |
Kcnh5 |
potassium voltage-gated channel subfamily H member 5 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532 |
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NCBI chr 6:97,872,831...98,157,087
Ensembl chr 6:97,872,831...98,157,087
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 PMID:9872318 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12742592 PMID:12754513 PMID:14534157 PMID:14985406 PMID:15596469 PMID:16039833 PMID:16199547 PMID:16597729 PMID:16916607 PMID:17475800 PMID:17576681 PMID:17872363 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:19822871 PMID:20119593 PMID:21685056 PMID:21937445 PMID:22013194 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24586341 PMID:24759409 PMID:24811917 PMID:24904429 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25590979 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25951140 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26073431 PMID:26138355 PMID:26148514 PMID:26446091 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26758118 PMID:26993267 PMID:27334371 PMID:27466704 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27781031 PMID:27861786 PMID:27864847 PMID:27888506 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28420012 PMID:28492532 PMID:28602030 PMID:28687180 PMID:28717674 PMID:28867141 PMID:28926830 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29314763 PMID:29390993 PMID:29429461 PMID:29644095 PMID:29655203 PMID:29720203 PMID:29933521 PMID:30109124 PMID:30126342 PMID:30174244 PMID:30185235 PMID:30478917 PMID:31152295 PMID:31199083 PMID:32488064 PMID:32581362 PMID:32860008 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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G |
Lcn2 |
lipocalin 2 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
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G |
Lime1 |
Lck interacting transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
|
NCBI chr 3:176,881,881...176,888,230
Ensembl chr 3:176,882,027...176,884,350
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G |
Lmntd2 |
lamin tail domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:214,197,126...214,202,828
Ensembl chr 1:214,196,430...214,202,853
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G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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G |
Maf |
MAF bZIP transcription factor |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29390993 |
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NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
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G |
Mir210 |
microRNA 210 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:214,208,355...214,208,464
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G |
Mir2964 |
microRNA 2964 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:8,407,427...8,407,526
Ensembl chr 3:8,407,427...8,407,526
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G |
Naif1 |
nuclear apoptosis inducing factor 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,476,330...11,482,629
Ensembl chr 3:11,476,883...11,481,744
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G |
Napb |
NSF attachment protein beta |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
|
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NCBI chr 3:143,017,571...143,063,904
Ensembl chr 3:143,020,454...143,063,983
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G |
Nrxn2 |
neurexin 2 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
|
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NCBI chr 1:221,792,191...221,908,047
Ensembl chr 1:221,792,221...221,908,049
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G |
Odf2 |
outer dense fiber of sperm tails 2 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:8,449,733...8,495,764
Ensembl chr 3:8,450,275...8,496,008
|
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G |
Phrf1 |
PHD and ring finger domains 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:214,215,673...214,248,906
Ensembl chr 1:214,215,992...214,248,901
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G |
Pigp |
phosphatidylinositol glycan anchor biosynthesis, class P |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28334793 PMID:31139695 PMID:32042915 |
|
NCBI chr11:34,592,128...34,598,253
Ensembl chr11:34,592,121...34,598,275
|
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G |
Pip5kl1 |
phosphatidylinositol-4-phosphate 5-kinase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,592,156...11,597,513
Ensembl chr 3:11,593,655...11,597,410
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G |
Plcb1 |
phospholipase C beta 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
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G |
Pola1 |
DNA polymerase alpha 1, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:62,382,604...62,698,830
Ensembl chr X:62,382,608...62,698,830
|
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G |
Ppdpf |
pancreatic progenitor cell differentiation and proliferation factor |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
|
NCBI chr 3:176,690,507...176,692,272
Ensembl chr 3:176,691,329...176,692,271
|
|
G |
Ptges2 |
prostaglandin E synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,424,195...11,431,379
Ensembl chr 3:11,424,099...11,431,402
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G |
Ptk6 |
protein tyrosine kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
|
NCBI chr 3:176,698,305...176,706,896
Ensembl chr 3:176,698,305...176,706,896
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G |
Ptrh1 |
peptidyl-tRNA hydrolase 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,811,303...11,817,007
Ensembl chr 3:11,811,962...11,825,640
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G |
Rassf7 |
Ras association domain family member 7 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:214,202,722...214,205,799
Ensembl chr 1:214,203,861...214,205,782
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
|
NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
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|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:1868258 PMID:1893099 PMID:9126059 PMID:9536098 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12535936 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15277629 PMID:15508916 PMID:15694566 PMID:16075041 PMID:16199547 PMID:16210358 PMID:16458823 PMID:16541393 PMID:16713913 PMID:16713920 PMID:16865694 PMID:17054684 PMID:17054685 PMID:17129991 PMID:17166794 PMID:17347258 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17679682 PMID:17903680 PMID:18021921 PMID:18056581 PMID:18076640 PMID:18330841 PMID:18413471 PMID:18414213 PMID:18479393 PMID:18554359 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19303743 PMID:19359143 PMID:19400878 PMID:19522081 PMID:19563349 PMID:19585586 PMID:19589774 PMID:19763161 PMID:19782004 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20738378 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21416599 PMID:21425109 PMID:21692795 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21844054 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:23016767 PMID:23086956 PMID:23103419 PMID:23184456 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23934111 PMID:24097157 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24337656 PMID:24472396 PMID:24502503 PMID:24623842 PMID:24656210 PMID:24679980 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25524840 PMID:25576396 PMID:25669891 PMID:25741868 PMID:25818041 PMID:25885068 PMID:26068938 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26252084 PMID:26339958 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27029629 PMID:27066544 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27652284 PMID:27781031 PMID:27864847 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28492532 PMID:28544625 PMID:28708303 PMID:28794249 PMID:28842445 PMID:28951233 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29142202 PMID:29186148 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29739726 PMID:29760947 PMID:29852413 PMID:30146492 PMID:30182498 PMID:30321769 PMID:30525188 PMID:30558019 PMID:30619928 PMID:30659983 PMID:30977726 PMID:31001185 PMID:31009440 PMID:31439038 PMID:31782251 PMID:31791873 PMID:32238909 PMID:32581362 |
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NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 |
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NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 |
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NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25568300 PMID:25741868 PMID:25785782 PMID:25849321 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235739 PMID:26297079 PMID:26467025 PMID:26647175 PMID:26900580 PMID:26993267 PMID:27210545 PMID:27779742 PMID:27781031 PMID:27864847 PMID:27875746 PMID:27900360 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28702509 PMID:28735751 PMID:28923014 PMID:29100083 PMID:29121005 PMID:29186148 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:30109124 PMID:30171078 PMID:30615093 |
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NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28202706 PMID:28492532 |
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NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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G |
Sct |
secretin |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:214,264,865...214,277,437
Ensembl chr 1:214,264,754...214,265,668
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G |
Sh2d3c |
SH2 domain containing 3C |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
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NCBI chr 3:11,756,427...11,793,547
Ensembl chr 3:11,756,384...11,793,593
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G |
Slc25a22 |
solute carrier family 25 member 22 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28255779 PMID:28492532 |
|
NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
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G |
Slc25a25 |
solute carrier family 25 member 25 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,442,396...11,476,186
Ensembl chr 3:11,442,397...11,452,529
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|
G |
Slc27a4 |
solute carrier family 27 member 4 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
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|
G |
Slc2a4rg |
SLC2A4 regulator |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
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|
|
G |
Slc35a2 |
solute carrier family 35 member A2 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:15,453,184...15,461,990
Ensembl chr X:15,453,186...15,461,713
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|
G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18414213 PMID:18469812 PMID:22258530 PMID:25224718 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26704558 PMID:26865513 PMID:28166811 PMID:28199897 PMID:28492532 PMID:29264391 PMID:29358611 PMID:29655203 |
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NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
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|
G |
Srms |
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
|
NCBI chr 3:176,709,742...176,716,146
Ensembl chr 3:176,709,743...176,716,146
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|
G |
St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18414213 PMID:23252400 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
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|
G |
St6galnac4 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,607,103...11,619,595
Ensembl chr 3:11,607,225...11,619,593
|
|
G |
St6galnac6 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,620,050...11,641,460
Ensembl chr 3:11,629,556...11,641,466
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|
G |
Stmn3 |
stathmin 3 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
|
NCBI chr 3:176,808,016...176,816,108
Ensembl chr 3:176,808,017...176,816,162
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|
G |
Stxbp1 |
syntaxin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18414213 PMID:18469812 PMID:19557857 PMID:20876469 PMID:20887364 PMID:21762454 PMID:21770924 PMID:22211739 PMID:22495311 PMID:22722545 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25556537 PMID:25693842 PMID:25714420 PMID:25741868 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26648591 PMID:26795593 PMID:26865513 PMID:26918652 PMID:26993267 PMID:27069701 PMID:27171548 PMID:27184330 PMID:27779742 PMID:28133863 PMID:28387360 PMID:28387369 PMID:28492532 PMID:28628100 PMID:28947817 PMID:29186148 PMID:29264391 PMID:29314583 PMID:29896790 PMID:30109124 PMID:31255830 PMID:31474318 PMID:32238909 PMID:32581362 |
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NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
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G |
Swi5 |
SWI5 homologous recombination repair protein |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,307,981...11,317,049
Ensembl chr 3:11,307,981...11,317,049
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G |
Synj1 |
synaptojanin 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
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G |
Szt2 |
SZT2 subunit of KICSTOR complex |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
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G |
Taldo1 |
transaldolase 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:10574461 PMID:16855591 PMID:18414213 PMID:20727515 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24848745 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:28072960 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:29100083 PMID:29358611 PMID:29671961 PMID:30108545 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30776697 PMID:31112829 PMID:31257402 |
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NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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G |
Tmem80 |
transmembrane protein 80 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:214,317,300...214,326,293
Ensembl chr 1:214,317,682...214,326,294
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G |
Tor2a |
torsin family 2, member A |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,794,731...11,800,261
Ensembl chr 3:11,795,629...11,799,693
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G |
Tpd52l2 |
TPD52 like 2 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
|
NCBI chr 3:176,989,333...177,009,425
Ensembl chr 3:176,989,672...177,008,419
|
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G |
Trub2 |
TruB pseudouridine synthase family member 2 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:8,338,479...8,348,746
Ensembl chr 3:8,338,484...8,348,746
|
|
G |
Ttc16 |
tetratricopeptide repeat domain 16 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:11,799,788...11,811,600
Ensembl chr 3:11,799,612...11,810,901
|
|
G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 |
|
NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
|
|
G |
Uba5 |
ubiquitin-like modifier activating enzyme 5 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 |
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NCBI chr 8:112,578,607...112,594,192
Ensembl chr 8:112,578,590...112,594,261
|
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G |
Urm1 |
ubiquitin related modifier 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 |
|
NCBI chr 3:8,389,024...8,405,868
Ensembl chr 3:8,389,024...8,405,868
|
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G |
Wwox |
WW domain-containing oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:11572989 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24456803 PMID:25403906 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25741868 PMID:26467025 PMID:27495153 PMID:27569545 PMID:27717089 PMID:27884173 PMID:28492532 PMID:29358611 PMID:29390993 PMID:29675105 PMID:29852413 PMID:29905011 |
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NCBI chr19:46,761,353...47,695,247
|
|
G |
Zbtb46 |
zinc finger and BTB domain containing 46 |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
|
NCBI chr 3:176,888,502...176,959,009
Ensembl chr 3:176,890,806...176,958,880
|
|
G |
Zgpat |
zinc finger CCCH-type and G-patch domain containing |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 |
|
NCBI chr 3:176,865,078...176,881,603
Ensembl chr 3:176,865,156...176,881,549
|
|
|
G |
Bend2 |
BEN domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:35,151,376...35,200,501
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
severity |
ISO |
ClinVar Annotator: match by OMIM:300672 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2 DNA:mutations:cds: |
ClinVar OMIM |
PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16326141 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17993579 PMID:18063413 PMID:18076117 PMID:18414213 PMID:18564362 PMID:18790821 PMID:18809835 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19362436 PMID:19396824 PMID:19428276 PMID:19471977 PMID:19564592 PMID:19740913 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20397747 PMID:20479760 PMID:20493745 PMID:20602487 PMID:20848651 PMID:21160487 PMID:21293276 PMID:21309761 PMID:21318334 PMID:21482751 PMID:21765152 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22264704 PMID:22430159 PMID:22670135 PMID:22678952 PMID:22779007 PMID:22812903 PMID:22832775 PMID:22867051 PMID:22872100 PMID:22922712 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23184456 PMID:23236174 PMID:23238081 PMID:23242510 PMID:23262346 PMID:23583054 PMID:23647072 PMID:23828526 PMID:23934111 PMID:24500651 PMID:24564546 PMID:24715584 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26467025 PMID:26482601 PMID:27081548 PMID:27187038 PMID:27848944 PMID:28492532 PMID:28837158 PMID:29190809 PMID:29264392 PMID:29390993 PMID:29420175 PMID:29444904 PMID:29655203 PMID:30776697 PMID:31492455 PMID:31780880 PMID:31791873, PMID:22678952 |
RGD:12791015 |
NCBI chr X:35,536,396...35,773,204
Ensembl chr X:35,599,258...35,771,711
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Nhs |
NHS actin remodeling regulator |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:34,312,102...34,675,912
Ensembl chr X:34,623,405...34,673,742
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G |
Rai2 |
retinoic acid induced 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:34,731,891...34,794,589
Ensembl chr X:34,731,891...34,794,589
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2 |
ClinVar |
PMID:15499549 PMID:16813600 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:23184456 PMID:23242510 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29655203 |
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NCBI chr X:35,749,957...35,777,243
Ensembl chr X:35,749,957...35,777,243
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G |
Scml1 |
Scm polycomb group protein like 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:34,676,728...34,694,251
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G |
Scml2 |
Scm polycomb group protein like 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:35,305,235...35,431,271
Ensembl chr X:35,305,236...35,431,164
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G |
Pigq |
phosphatidylinositol glycan anchor biosynthesis, class Q |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77 |
OMIM ClinVar |
PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:27513193 PMID:28492532 PMID:31148362 PMID:32588908 |
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NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
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G |
Dhdds |
dehydrodolichyl diphosphate synthase subunit |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES |
ClinVar OMIM |
PMID:25741868 PMID:29100083 |
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NCBI chr 5:152,200,681...152,227,669
Ensembl chr 5:152,199,584...152,227,677
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G |
Deaf1 |
DEAF1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder |
OMIM ClinVar |
PMID:11690625 PMID:24668509 PMID:25741868 PMID:26048982 PMID:26795593 PMID:26834045 PMID:28940898 PMID:30923367 PMID:31688097 PMID:31929336 |
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NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
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G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
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ISO |
ClinVar Annotator: match by term: EAST syndrome ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy ClinVar Annotator: match by term: SeSAME syndrome DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human) ClinVar Annotator: match by OMIM:612780 |
OMIM ClinVar |
PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 PMID:21458570 PMID:21849804 PMID:22612257 PMID:23869231 PMID:23918157 PMID:23924083 PMID:23965030 PMID:24378235 PMID:24860705 PMID:25372295 PMID:25741868 PMID:26467025 PMID:27171548 PMID:27182706 PMID:27535533 PMID:27677466 PMID:27875746 PMID:27884173 PMID:28492532 PMID:28747464 PMID:29615871 PMID:30304693 PMID:32062759 PMID:32233732 PMID:32581362, PMID:19420365 |
RGD:8662866 |
NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
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G |
Agap2 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 |
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ISO |
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RGD |
PMID:21925531 |
RGD:13838850 |
NCBI chr 7:70,360,199...70,377,422
Ensembl chr 7:70,364,813...70,377,422
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G |
Becn1 |
beclin 1 |
treatment |
IEP |
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RGD |
PMID:23994218 |
RGD:11561923 |
NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
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G |
Dmd |
dystrophin |
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IEP |
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RGD |
PMID:9539217 |
RGD:12880363 |
NCBI chr X:51,149,358...53,519,271
Ensembl chr X:51,286,737...53,519,259
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G |
Gstp1 |
glutathione S-transferase pi 1 |
treatment |
IEP |
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RGD |
PMID:22038365 |
RGD:10401935 |
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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G |
Rasgrf1 |
RAS protein-specific guanine nucleotide-releasing factor 1 |
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IEP |
protein:decreased expression:dentate gyrus, hippocampus CA1, cerebral cortex (rat) |
RGD |
PMID:23200899 |
RGD:10003135 |
NCBI chr 8:97,277,250...97,405,095
Ensembl chr 8:97,277,456...97,405,102
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G |
Rgs10 |
regulator of G-protein signaling 10 |
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IEP |
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RGD |
PMID:12358788 |
RGD:13524540 |
NCBI chr 1:199,782,076...199,823,440
Ensembl chr 1:199,782,078...199,823,386
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G |
Rgs4 |
regulator of G-protein signaling 4 |
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IEP |
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RGD |
PMID:12358788 |
RGD:13524540 |
NCBI chr13:88,054,817...88,061,108
Ensembl chr13:88,054,817...88,061,108
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G |
Rgs7 |
regulator of G-protein signaling 7 |
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IEP |
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RGD |
PMID:12358788 |
RGD:13524540 |
NCBI chr13:93,095,659...93,534,452
Ensembl chr13:93,095,200...93,307,199
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G |
Rgs8 |
regulator of G-protein signaling 8 |
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IEP |
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RGD |
PMID:12358788 |
RGD:13524540 |
NCBI chr13:71,086,654...71,141,820
Ensembl chr13:71,086,745...71,141,075
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G |
Sv2a |
synaptic vesicle glycoprotein 2a |
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IMP |
DNA:mutation:cds:p.L174Q(rat) |
RGD |
PMID:27265781 |
RGD:12792961 |
NCBI chr 2:198,321,100...198,336,889
Ensembl chr 2:198,321,142...198,336,913
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G |
Sv2am1Kyo |
synaptic vesicle glycoprotein 2a; ENU induced mutant 1, Kyo, |
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IMP |
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RGD |
PMID:27265781 |
RGD:12792961 |
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G |
Uqcrfs1 |
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 |
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IEP |
protein:increased expression:hippocampus |
RGD |
PMID:15730530 |
RGD:2303356 |
NCBI chr17:35,677,984...35,682,262
Ensembl chr17:35,677,984...35,682,259
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G |
Mvp |
major vault protein |
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ISO |
ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial |
ClinVar |
PMID:25741868 |
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NCBI chr 1:198,420,813...198,448,612
Ensembl chr 1:198,420,806...198,450,047
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G |
Prrt2 |
proline-rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22623405 PMID:22744660 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23299620 PMID:23352743 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24465263 PMID:24661410 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:26467025 PMID:26598493 PMID:27173777 PMID:28074849 PMID:28492532 PMID:29334453 |
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NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
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G |
Lias |
lipoic acid synthetase |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar Annotator: match by OMIM:614462 |
OMIM ClinVar |
PMID:2152680 PMID:22152680 PMID:24334290 PMID:25741868 PMID:26467025 PMID:27923773 PMID:28492532 |
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NCBI chr14:44,507,217...44,524,287
Ensembl chr14:44,507,218...44,524,252
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G |
Rpl9 |
ribosomal protein L9 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr14:44,524,419...44,527,613
Ensembl chr14:44,524,416...44,527,613
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G |
Ugdh |
UDP-glucose 6-dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
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G |
Adk |
adenosine kinase |
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ISO |
ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:614300 |
OMIM ClinVar CTD |
PMID:21963049 PMID:25741868 PMID:26975589 PMID:28492532 |
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NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
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G |
Cnnm2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
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ISO |
ClinVar Annotator: match by term: Hypomagnesemia, seizures, and mental retardation 1 |
OMIM ClinVar |
PMID:24699222 PMID:25741868 |
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NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
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G |
Atp1a1 |
ATPase Na+/K+ transporting subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 ClinVar Annotator: match by term: Hypomagnesemia, seizures, and mental retardation 2 |
ClinVar OMIM |
PMID:25741868 PMID:30388404 |
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NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
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G |
B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism retardation dysmorphism syndrome ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:54,027,859...54,070,399
Ensembl chr17:54,027,859...54,070,399
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G |
Tbce |
tubulin folding cofactor E |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism retardation dysmorphism syndrome ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay ClinVar Annotator: match by OMIM:241410 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12389028 PMID:16938882 PMID:25097779 PMID:25741868 PMID:26336027 PMID:28492532 |
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NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
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G |
Med17 |
mediator complex subunit 17 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy ClinVar Annotator: match by OMIM:613668 |
OMIM ClinVar |
PMID:18414213 PMID:20950787 PMID:25741868 PMID:28492532 |
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NCBI chr 8:13,522,257...13,835,302
Ensembl chr 8:13,819,563...13,835,168
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G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 1 |
ClinVar OMIM |
PMID:8052858 PMID:8524402 PMID:25262651 PMID:25741868 PMID:28942967 PMID:29432562 PMID:32238909 |
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NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
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G |
Gabrb2 |
gamma-aminobutyric acid type A receptor subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 2 |
ClinVar OMIM |
PMID:25124326 PMID:25741868 PMID:27789573 PMID:28492532 PMID:29100083 |
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NCBI chr10:27,973,694...28,193,072
Ensembl chr10:27,973,681...28,187,565
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G |
Atp6v1a |
ATPase H+ transporting V1 subunit A |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 3 |
ClinVar OMIM |
PMID:23334411 PMID:25741868 PMID:29668857 |
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NCBI chr11:61,531,386...61,584,634
Ensembl chr11:61,531,416...61,584,634
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G |
Otud6b |
OTU deubiquitinase 6B |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
ClinVar OMIM |
PMID:25741868 PMID:28343629 |
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NCBI chr 5:28,333,019...28,350,093
Ensembl chr 5:28,333,019...28,349,927
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 ClinVar Annotator: match by term: Microcephaly, seizures and developmental delay ClinVar Annotator: match by OMIM:613402 |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:23708187 PMID:24033266 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27232581 PMID:28492532 PMID:29261713 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31167812 |
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NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
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G |
Rttn |
rotatin |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures ClinVar Annotator: match by term: Polymicrogyria with seizures ClinVar Annotator: match by OMIM:614833 |
OMIM ClinVar |
PMID:22939636 PMID:25326635 PMID:25741868 PMID:26608784 PMID:26940245 PMID:28492532 PMID:30121372 |
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NCBI chr18:86,071,884...86,247,486
Ensembl chr18:86,071,662...86,247,486
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G |
Pign |
phosphatidylinositol glycan anchor biosynthesis, class N |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome |
ClinVar |
PMID:24033266 PMID:26394714 PMID:28492532 |
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NCBI chr13:25,510,593...25,662,943
Ensembl chr13:25,513,892...25,652,473
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G |
Pign |
phosphatidylinositol glycan anchor biosynthesis, class N |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar Annotator: match by OMIM:614080 |
OMIM ClinVar |
PMID:21493957 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 PMID:26394714 PMID:26419326 PMID:26467025 PMID:26539891 PMID:26633542 PMID:26879448 PMID:26964041 PMID:27038415 PMID:28273706 PMID:28327575 PMID:28492532 PMID:29096607 PMID:29330547 PMID:32860008 |
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NCBI chr13:25,510,593...25,662,943
Ensembl chr13:25,513,892...25,652,473
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G |
Relch |
RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr13:25,656,983...25,752,792
Ensembl chr13:25,656,983...25,752,792
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G |
Tnfrsf11a |
TNF receptor superfamily member 11A |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
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G |
Piga |
phosphatidylinositol glycan anchor biosynthesis, class A |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar Annotator: match by OMIM:300868 |
OMIM ClinVar |
PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 PMID:10087994 PMID:15307104 PMID:22305531 PMID:24259184 PMID:24259288 PMID:24357517 PMID:24706016 PMID:24759409 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26545172 PMID:28441409 PMID:28492532 PMID:29310717 PMID:29656098 |
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NCBI chr X:31,786,823...31,799,751
Ensembl chr X:31,786,194...31,799,560
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G |
Pigt |
phosphatidylinositol glycan anchor biosynthesis, class T |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 ClinVar Annotator: match by term: PIGT-related disorder ClinVar Annotator: match by OMIM:615398 |
OMIM ClinVar |
PMID:23636107 PMID:24906948 PMID:25741868 PMID:25943031 PMID:27916860 PMID:28492532 PMID:28728837 PMID:30976099 PMID:32581362 |
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NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739
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G |
Adarb1 |
adenosine deaminase, RNA-specific, B1 |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES |
ClinVar OMIM |
PMID:25741868 PMID:32220291 |
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NCBI chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047
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G |
Hecw2 |
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language |
ClinVar OMIM |
PMID:23545411 PMID:25741868 PMID:27389779 PMID:29807643 |
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NCBI chr 9:60,451,476...60,843,160
Ensembl chr 9:60,457,215...60,672,246
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G |
Ntng2 |
netrin G2 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language |
ClinVar |
PMID:25741868 PMID:31668703 |
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NCBI chr 3:7,742,511...7,800,834
Ensembl chr 3:7,742,531...7,796,385
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G |
Lamc3 |
laminin subunit gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Cortical malformations, occipital ClinVar Annotator: match by OMIM:614115 |
OMIM ClinVar |
PMID:21572413 PMID:25326635 PMID:25741868 PMID:28492532 |
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NCBI chr 3:9,265,407...9,327,107
Ensembl chr 3:9,267,122...9,326,993
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G |
Rtn4ip1 |
reticulon 4 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Optic atrophy 10 ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures |
ClinVar OMIM |
PMID:26593267 PMID:29181510 |
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NCBI chr20:48,881,124...48,924,921
Ensembl chr20:48,881,194...48,925,081
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G |
Arx |
aristaless related homeobox |
|
ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 36 ClinVar Annotator: match by term: Partington X-linked mental retardation syndrome DNA:duplication:exon:c.428-451dup (human) |
OMIM ClinVar |
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12640086 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:17331656 PMID:17480217 PMID:20506206 PMID:21204215 PMID:25741868 PMID:26029707 PMID:28492532, PMID:24528893 |
RGD:11565843 |
NCBI chr X:62,363,757...62,376,139
Ensembl chr X:62,363,757...62,376,143
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Hmgcs2 |
3-hydroxy-3-methylglutaryl-CoA synthase 2 |
|
ISO |
ClinVar Annotator: match by term: PHGDH DEFICIENCY |
ClinVar |
|
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NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
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G |
Phgdh |
phosphoglycerate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency ClinVar Annotator: match by OMIM:601815 |
OMIM ClinVar |
PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 PMID:19235232 PMID:22393170 PMID:22886422 PMID:24836451 PMID:25741868 PMID:26467025 PMID:26960553 PMID:28135894 PMID:28492532 |
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NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
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G |
Cacna1d |
calcium voltage-gated channel subunit alpha1 D |
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ISO |
ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities ClinVar Annotator: match by OMIM:615474 |
OMIM ClinVar |
PMID:23913001 PMID:25741868 |
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NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
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G |
Psat1 |
phosphoserine aminotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Phosphoserine aminotransferase deficiency ClinVar Annotator: match by OMIM:610992 |
OMIM ClinVar |
PMID:17436247 PMID:25741868 PMID:28492532 PMID:32077105 |
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NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
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G |
Brat1 |
BRCA1-associated ATM activator 1 |
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ISO |
ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar Annotator: match by OMIM:614498 |
OMIM ClinVar |
PMID:16452482 PMID:22279524 PMID:23035047 PMID:25319849 PMID:25500575 PMID:25741868 PMID:26467025 PMID:26483087 PMID:26494257 PMID:26535877 PMID:26947546 PMID:26964041 PMID:27282546 PMID:27282648 PMID:27480663 PMID:28492532 PMID:28752061 PMID:29375859 PMID:29390993 PMID:29431110 PMID:30346566 |
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NCBI chr12:16,016,062...16,028,534
Ensembl chr12:16,015,771...16,027,881
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G |
Diaph1 |
diaphanous-related formin 1 |
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ISO |
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar Annotator: match by term: SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME |
ClinVar |
PMID:24781755 PMID:25558065 PMID:25741868 PMID:26463574 |
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NCBI chr18:30,972,907...31,071,371
Ensembl chr18:30,972,907...31,071,371
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G |
Prmt7 |
protein arginine methyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures |
ClinVar OMIM |
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 |
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NCBI chr19:38,189,605...38,237,155
Ensembl chr19:38,189,605...38,237,308
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Mtor |
mechanistic target of rapamycin kinase |
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ISO |
ClinVar Annotator: match by term: Smith-Kingsmore syndrome |
OMIM ClinVar |
PMID:23636326 PMID:24631838 PMID:25741868 PMID:25851998 PMID:26542245 PMID:26619011 PMID:27159400 PMID:27279227 PMID:27513193 PMID:27753196 PMID:27830187 PMID:28475857 PMID:28492532 PMID:28554332 PMID:32581362 |
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NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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G |
Slc2a1 |
solute carrier family 2 member 1 |
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ISO |
ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects |
ClinVar OMIM |
PMID:10980529 PMID:11477212 PMID:12325075 PMID:15180870 PMID:16949238 PMID:17052934 PMID:18606970 PMID:19798636 PMID:20129935 PMID:20417043 PMID:21069159 PMID:21135204 PMID:21555602 PMID:21791420 PMID:21832227 PMID:23280796 PMID:23340081 PMID:23448551 PMID:25108116 PMID:25326635 PMID:25487684 PMID:25564316 PMID:25741868 PMID:25982116 PMID:26216499 PMID:26537434 PMID:26598494 PMID:28116237 PMID:28492532 |
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NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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G |
Ap1s2 |
adaptor related protein complex 1 subunit sigma 2 |
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ISO |
ClinVar Annotator: match by term: Pettigrew syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mental retardation X-linked syndromic 5 ClinVar Annotator: match by OMIM:304340 |
OMIM ClinVar CTD |
PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 PMID:17617514 PMID:18414213 PMID:23756445 PMID:25741868 |
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NCBI chr X:32,329,883...32,376,301
Ensembl chr X:32,329,598...32,355,307
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G |
Cul4b |
cullin 4B |
|
ISO |
ClinVar Annotator: match by term: Pettigrew syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:124,831,391...124,870,329
Ensembl chr X:124,832,628...124,870,329
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G |
Abat |
4-aminobutyrate aminotransferase |
treatment |
IMP ISO IDA |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10407778, PMID:20109543, PMID:21935729, PMID:2753001 |
RGD:9588535, RGD:10047087, RGD:10047056 |
NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
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IEP ISO |
Audiogenic Seizures;mRNA:increased expression:cerebral cortex, midbrain (rat) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17437408, PMID:12423380 |
RGD:8657333 |
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
treatment |
ISO IMP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16504477, PMID:12663688 |
RGD:704399 |
NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
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G |
Abcc8 |
ATP binding cassette subfamily C member 8 |
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IEP |
mRNA, protein:altered expression:dentate gyrus |
RGD |
PMID:18021373 |
RGD:2301911 |
NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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G |
Acadsb |
acyl-CoA dehydrogenase, short/branched chain |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:17945527 PMID:20547083 PMID:28492532 |
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NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
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G |
Acat1 |
acetyl-CoA acetyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23266720 |
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NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
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G |
Ache |
acetylcholinesterase |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:19941057 PMID:27083141 |
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NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
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G |
Acot8 |
acyl-CoA thioesterase 8 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,260,837...161,272,495
Ensembl chr 3:161,259,735...161,272,460
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G |
Acp2 |
acid phosphatase 2, lysosomal |
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ISO |
|
RGD |
PMID:9228031 |
RGD:1300245 |
NCBI chr 3:80,020,346...80,030,365
Ensembl chr 3:80,021,440...80,030,363
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G |
Actl6b |
actin-like 6B |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr12:22,194,595...22,211,107
Ensembl chr12:22,194,618...22,211,080
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G |
Actr5 |
actin related protein 5 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:155,118,567...155,132,073
Ensembl chr 3:155,119,042...155,131,829
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G |
Ada |
adenosine deaminase |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
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G |
Adam22 |
ADAM metallopeptidase domain 22 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 4:22,864,485...23,002,969
Ensembl chr 4:22,859,622...22,996,645
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G |
Adamts1 |
ADAM metallopeptidase with thrombospondin type 1 motif, 1 |
|
IEP |
mRNA:increased expression:hippocampus, temporal lobe |
RGD |
PMID:12379262 |
RGD:1566572 |
NCBI chr11:25,342,119...25,350,938
Ensembl chr11:25,342,126...25,350,974
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G |
Adarb1 |
adenosine deaminase, RNA-specific, B1 |
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ISO |
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RGD |
PMID:10894545 |
RGD:1300255 |
NCBI chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047
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G |
Adcyap1 |
adenylate cyclase activating polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29673861 |
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NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
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G |
Adgrg1 |
adhesion G protein-coupled receptor G1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr19:10,423,534...10,460,674
Ensembl chr19:10,423,501...10,460,674
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G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:18414213 PMID:24033266 PMID:28492532 |
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NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
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G |
Adig |
adipogenin |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:153,946,828...153,952,269
Ensembl chr 3:153,949,215...153,952,108
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
associated with metabolic syndrome X; |
RGD |
PMID:21976521 |
RGD:5686407 |
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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G |
Adora2a |
adenosine A2a receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19488739 |
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NCBI chr20:14,265,251...14,282,873
Ensembl chr20:14,265,252...14,282,873
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G |
Adra1b |
adrenoceptor alpha 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19125850 |
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NCBI chr10:29,392,762...29,450,644
Ensembl chr10:29,392,762...29,450,644
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G |
Adra2b |
adrenoceptor alpha 2B |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 3:119,805,941...119,809,987
Ensembl chr 3:119,805,941...119,809,987
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G |
Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806
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G |
Agt |
angiotensinogen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16771832 |
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NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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G |
Aif1 |
allograft inflammatory factor 1 |
|
IEP |
protein:increased expression:brain (rat) |
RGD |
PMID:16635480 |
RGD:2313039 |
NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
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G |
Alad |
aminolevulinate dehydratase |
|
IEP ISO |
protein:decreased activity:brain, liver (rat) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19798568, PMID:17320826 |
RGD:4144168 |
NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
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G |
Aldh5a1 |
aldehyde dehydrogenase 5 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
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G |
Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 PMID:17721876 PMID:18717709 PMID:19128417 PMID:20370816 PMID:22371912 PMID:22784480 PMID:23022070 PMID:23054014 PMID:23350806 PMID:23430810 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26101365 PMID:26224730 PMID:26232297 PMID:26467025 PMID:28492532 PMID:29056246 |
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NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
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G |
Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:23033978 PMID:23934111 PMID:24781210 PMID:24896178 PMID:25732998 PMID:25741868 PMID:26138355 PMID:26482601 PMID:28492532 PMID:28940310 PMID:32238909 PMID:32681751 |
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NCBI chr X:115,561,329...115,589,792
Ensembl chr X:115,561,332...115,619,505
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G |
Alg3 |
ALG3, alpha-1,3- mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr11:83,985,484...83,991,706
Ensembl chr11:83,986,230...83,991,706
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G |
Alpl |
alkaline phosphatase, biomineralization associated |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:7550313 PMID:27466191 |
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NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
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G |
Amacr |
alpha-methylacyl-CoA racemase |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
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G |
Amt |
aminomethyltransferase |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
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G |
Amy1a |
amylase, alpha 1A |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 2:216,428,709...216,443,518
Ensembl chr 2:216,428,709...216,443,518
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G |
Ankh |
ANKH inorganic pyrophosphate transport regulator |
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IEP |
|
RGD |
PMID:12861042 |
RGD:634632 |
NCBI chr 2:80,131,563...80,256,948
Ensembl chr 2:80,131,563...80,256,954
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G |
Ankrd11 |
ankyrin repeat domain 11 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
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G |
Ap3b2 |
adaptor related protein complex 3 subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 1:143,284,041...143,315,846
Ensembl chr 1:143,283,996...143,315,633
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G |
Apaf1 |
apoptotic peptidase activating factor 1 |
|
IDA |
protein:increased activity:hippocampus |
RGD |
PMID:11753565 |
RGD:2325750 |
NCBI chr 7:31,699,309...31,784,192
Ensembl chr 7:31,699,885...31,784,192
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G |
Apc2 |
APC regulator of WNT signaling pathway 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 7:12,258,468...12,280,459
Ensembl chr 7:12,258,468...12,275,609
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G |
Apex1 |
apurinic/apyrimidinic endodeoxyribonuclease 1 |
|
IEP ISO |
protein:increased expression:neuron CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20446108, PMID:15854596 |
RGD:2302852 |
NCBI chr15:27,849,943...27,852,083
Ensembl chr15:27,849,979...27,852,082
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G |
Apoe |
apolipoprotein E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23266720 |
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NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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G |
App |
amyloid beta precursor protein |
|
ISO |
associated with Alzheimer Disease; |
RGD |
PMID:25879152 |
RGD:10054263 |
NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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G |
Arc |
activity-regulated cytoskeleton-associated protein |
|
IEP |
|
RGD |
PMID:23744421 |
RGD:10395306 |
NCBI chr 7:115,907,097...115,911,059
Ensembl chr 7:115,907,097...115,910,541
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G |
Arfgef1 |
ADP ribosylation factor guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr 5:8,666,046...8,760,458
Ensembl chr 5:8,666,200...8,760,458
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G |
Arhgap40 |
Rho GTPase activating protein 40 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:154,996,685...155,042,199
Ensembl chr 3:154,996,750...155,041,816
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G |
Arid1a |
AT-rich interaction domain 1A |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
|
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G |
Arid1b |
AT-rich interaction domain 1B |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:15057123 PMID:22405089 PMID:25741868 PMID:27474218 PMID:28323383 |
|
NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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|
G |
Arpin |
actin-related protein 2/3 complex inhibitor |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr 1:141,664,790...141,672,789
Ensembl chr 1:141,662,850...141,672,810
|
|
G |
Arr3 |
arrestin 3 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr X:70,438,590...70,452,140
Ensembl chr X:70,438,617...70,452,067
|
|
G |
Asf1a |
anti-silencing function 1A histone chaperone |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr20:34,894,419...34,909,265
Ensembl chr20:34,894,419...34,909,265
|
|
G |
Ash1l |
ASH1 like histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr 2:188,252,592...188,389,251
Ensembl chr 2:188,253,220...188,389,250
|
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G |
Asic1 |
acid sensing ion channel subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:141,324,714...141,354,937
Ensembl chr 7:141,326,321...141,354,937
|
|
G |
Aspm |
assembly factor for spindle microtubules |
susceptibility |
ISO |
|
RGD |
PMID:16141009 |
RGD:1599300 |
NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
|
|
G |
Asxl1 |
ASXL transcriptional regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
|
|
G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:22842232 PMID:25741868 PMID:26297560 PMID:26410222 PMID:28492532 |
|
NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
|
|
G |
Atp6v0c |
ATPase H+ transporting V0 subunit C |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
|
NCBI chr10:13,537,031...13,543,407
Ensembl chr10:13,537,033...13,542,077
|
|
G |
Atp7a |
ATPase copper transporting alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22815746 |
|
NCBI chr X:77,076,085...77,193,644
Ensembl chr X:77,076,106...77,193,644
|
|
G |
Aven |
apoptosis and caspase activation inhibitor |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr 3:103,980,612...104,117,193
Ensembl chr 3:104,042,168...104,117,192
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G |
Bad |
BCL2-associated agonist of cell death |
|
IEP |
protein:decreased phosphorylation:hippocampus |
RGD |
PMID:15968425 |
RGD:2292693 |
NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
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|
G |
Bag3 |
BAG cochaperone 3 |
|
IEP |
protein:increased expression:hippocampus, astrocyte |
RGD |
PMID:12085992 |
RGD:2325847 |
NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
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|
G |
Bche |
butyrylcholinesterase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8667461 PMID:18597747 PMID:20971807 |
|
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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|
G |
Bckdk |
branched chain ketoacid dehydrogenase kinase |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:26467025 PMID:28492532 |
|
NCBI chr 1:199,351,628...199,356,299
Ensembl chr 1:199,351,628...199,356,881
|
|
G |
Bcorl1 |
BCL6 co-repressor-like 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr X:135,187,468...135,233,859
Ensembl chr X:135,187,468...135,233,839
|
|
G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
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|
G |
Bdnf |
brain-derived neurotrophic factor |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:9073163 PMID:15781040 PMID:21269288 |
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NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
|
|
G |
Bet1 |
Bet1 golgi vesicular membrane trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:29,082,368...29,092,638
Ensembl chr 4:29,082,365...29,092,753
|
|
G |
Bex3 |
brain expressed X-linked 3 |
treatment |
IEP |
|
RGD |
PMID:12873743 |
RGD:9743975 |
NCBI chr X:106,823,442...106,825,016
Ensembl chr X:106,823,491...106,825,014
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|
G |
Bicd2 |
BICD cargo adaptor 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:30054298 |
|
NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
|
|
G |
Blcap |
BLCAP, apoptosis inducing factor |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
|
NCBI chr 3:154,040,165...154,042,096
Ensembl chr 3:154,040,166...154,042,099
|
|
G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:12358323 PMID:25741868 |
|
NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
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|
G |
Bpi |
bactericidal/permeability-increasing protein |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
|
NCBI chr 3:154,741,627...154,768,584
Ensembl chr 3:154,741,631...154,768,640
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G |
Brca2 |
BRCA2, DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:10923033 PMID:18779604 PMID:25741868 PMID:26467025 PMID:27425403 PMID:27741520 PMID:28087643 PMID:28492532 PMID:29161300 PMID:29907814 |
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NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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G |
Brd1 |
bromodomain containing 1 |
|
IEP |
|
RGD |
PMID:22675730 |
RGD:9586108 |
NCBI chr 7:129,676,119...129,724,303
Ensembl chr 7:129,676,120...129,724,303
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|
G |
Brpf1 |
bromodomain and PHD finger containing, 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 4:145,264,445...145,280,943
Ensembl chr 4:145,264,462...145,280,857
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G |
C7 |
complement C7 |
|
IDA |
Protein:increased activity:brain |
RGD |
PMID:12574424 |
RGD:1599523 |
NCBI chr 2:54,707,621...54,781,624
Ensembl chr 2:54,709,138...54,777,729
|
|
G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532, PMID:9060410 |
RGD:10054423 |
NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
|
|
G |
Cacna1b |
calcium voltage-gated channel subunit alpha1 B |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
|
|
G |
Cacna1d |
calcium voltage-gated channel subunit alpha1 D |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
|
|
G |
Cacna1g |
calcium voltage-gated channel subunit alpha1 G |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
|
|
G |
Cacna1h |
calcium voltage-gated channel subunit alpha1 H |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
|
NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
|
|
G |
Cacna2d1 |
calcium voltage-gated channel auxiliary subunit alpha2delta 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25074461 |
|
NCBI chr 4:15,706,974...16,130,848
Ensembl chr 4:15,710,417...16,130,848
|
|
G |
Cacna2d2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
|
|
G |
Cacng2 |
calcium voltage-gated channel auxiliary subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 7:119,228,112...119,353,332
Ensembl chr 7:119,228,102...119,352,605
|
|
G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
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|
G |
Calhm4 |
calcium homeostasis modulator family member 4 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr20:27,573,809...27,578,269
Ensembl chr20:27,575,533...27,578,244
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G |
Calhm5 |
calcium homeostasis modulator family member 5 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr20:27,651,817...27,673,817
Ensembl chr20:27,651,312...27,657,983
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G |
Calhm6 |
calcium homeostasis modulator family member 6 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr20:27,681,138...27,683,580
Ensembl chr20:27,681,036...27,682,861
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G |
Camta1 |
calmodulin binding transcription activator 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 5:168,138,207...169,017,295
Ensembl chr 5:168,141,372...169,017,295
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G |
Casp1 |
caspase 1 |
|
IMP |
|
RGD |
PMID:16886979 |
RGD:2315919 |
NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
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|
G |
Cat |
catalase |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:18096215 PMID:19616071 PMID:20592767 |
|
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
|
|
G |
Cck |
cholecystokinin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:6265841 |
|
NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
|
|
G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
IEP |
protein:increased expression:hippocampus, vasculature (rat) |
RGD |
PMID:20940264 |
RGD:4889880 |
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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|
G |
Ccn5 |
cellular communication network factor 5 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
|
NCBI chr 3:160,207,969...160,219,316
Ensembl chr 3:160,207,913...160,219,331
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G |
Ccnb1 |
cyclin B1 |
|
IEP |
protein:increased expression:hippocampus CA1, neuron |
RGD |
PMID:16242239 |
RGD:2315994 |
NCBI chr 2:30,782,133...30,791,106
Ensembl chr 2:30,783,915...30,791,221
|
|
G |
Ccnd1 |
cyclin D1 |
|
IEP |
protein:increased expression:hippocampus, cerebral cortex |
RGD |
PMID:16696308 |
RGD:2289147 |
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
|
|
G |
Ccnf |
cyclin F |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 |
|
NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
|
|
G |
Ccr5 |
C-C motif chemokine receptor 5 |
resistance |
IMP |
|
RGD |
PMID:20940264 |
RGD:4889880 |
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
|
|
G |
Cd36 |
CD36 molecule |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25074461 |
|
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
|
|
G |
Cd40 |
CD40 molecule |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
|
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
|
|
G |
Cdh22 |
cadherin 22 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
|
NCBI chr 3:161,574,993...161,971,102
Ensembl chr 3:161,575,631...161,917,285
|
|
G |
Cdk11b |
cyclin-dependent kinase 11B |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:173,051,900...173,078,049
Ensembl chr 5:173,052,063...173,078,046
|
|
G |
Cdk13 |
cyclin-dependent kinase 13 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr17:49,833,194...49,922,932
Ensembl chr17:49,833,400...49,921,550
|
|
G |
Cdk20 |
cyclin-dependent kinase 20 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr17:1,935,900...1,942,867
Ensembl chr17:1,936,163...1,942,865
|
|
G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Seizures DNA:deletion, missense, nonsense mutations:cds: |
CTD ClinVar |
PMID:22264704 PMID:25741868, PMID:22264704 |
RGD:12791013 |
NCBI chr X:35,536,396...35,773,204
Ensembl chr X:35,599,258...35,771,711
|
|
G |
Cep85l |
centrosomal protein 85-like |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
|
|
G |
Chat |
choline O-acetyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19941057 |
|
NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
|
|
G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
|
|
G |
Chd3 |
chromodomain helicase DNA binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr10:55,943,467...55,970,417
Ensembl chr10:55,943,446...55,965,216
|
|
G |
Chd6 |
chromodomain helicase DNA binding protein 6 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
|
NCBI chr 3:156,937,746...157,099,328
Ensembl chr 3:156,937,733...157,099,306
|
|
G |
Chkb |
choline kinase beta |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:130,404,818...130,408,813
Ensembl chr 7:130,404,832...130,408,187
|
|
G |
Chl1 |
cell adhesion molecule L1-like |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:70,269,414...70,331,313
Ensembl chr 4:70,252,366...70,330,803
|
|
G |
Chrm1 |
cholinergic receptor, muscarinic 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8028781 PMID:10069499 PMID:11392617 PMID:12091480 PMID:12713643 |
|
NCBI chr 1:224,869,087...224,885,101
Ensembl chr 1:224,882,439...224,884,205
|
|
G |
Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
|
|
G |
Chrna2 |
cholinergic receptor nicotinic alpha 2 subunit |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:24950454 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr15:42,808,897...42,825,179
Ensembl chr15:42,808,897...42,825,179
|
|
G |
Chrna3 |
cholinergic receptor nicotinic alpha 3 subunit |
|
IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15275829, PMID:15469883 |
RGD:1599607 |
NCBI chr 8:59,594,007...59,607,122
Ensembl chr 8:59,592,403...59,607,275
|
|
G |
Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Seizures |
CTD ClinVar |
PMID:10563623 PMID:10643924 PMID:10939581 PMID:10942032 PMID:11904236 PMID:12887446 PMID:14623738 PMID:15154117 PMID:16339034 PMID:18414213 PMID:19020039 PMID:19058950 PMID:19237585 PMID:19628475 PMID:21107856 PMID:21683344 PMID:21753767 PMID:22036597 PMID:22118295 PMID:22873564 PMID:22883468 PMID:24385388 PMID:25741868 PMID:26467025 PMID:26561946 PMID:28492532 |
|
NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
|
|
G |
Chrna5 |
cholinergic receptor nicotinic alpha 5 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9495872 PMID:14996991 |
|
NCBI chr 8:59,561,817...59,590,172
Ensembl chr 8:59,561,721...59,590,172
|
|
G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9495872 PMID:10565853 PMID:10942032 PMID:11893908 PMID:14996991 |
|
NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
|
|
G |
Chrnb2 |
cholinergic receptor nicotinic beta 2 subunit |
|
ISO |
ClinVar Annotator: match by term: Generalized seizures ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:11906688 PMID:18414213 PMID:20736995 PMID:21703448 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
|
|
G |
Chrnb4 |
cholinergic receptor nicotinic beta 4 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14996991 PMID:15275829 |
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NCBI chr 8:59,610,489...59,629,073
Ensembl chr 8:59,609,693...59,629,133
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G |
Cic |
capicua transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 1:82,135,440...82,163,007
Ensembl chr 1:82,151,669...82,163,005
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G |
Cilk1 |
ciliogenesis associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 8:85,413,998...85,473,374
Ensembl chr 8:85,413,537...85,472,694
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G |
Cinp |
cyclin-dependent kinase 2-interacting protein |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:26539891 |
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NCBI chr 6:135,290,528...135,304,422
Ensembl chr 6:135,290,530...135,304,422
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G |
Cit |
citron rho-interacting serine/threonine kinase |
|
ISO IAGP |
|
RGD |
PMID:11086988, PMID:10219263 |
RGD:734780, RGD:13204836 |
NCBI chr12:46,334,669...46,494,152
Ensembl chr12:46,334,665...46,494,174
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G |
CitfhJjlo |
citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo |
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IAGP |
|
RGD |
PMID:10219263 |
RGD:13204836 |
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G |
Clcn2 |
chloride voltage-gated channel 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:17762171 PMID:28492532 |
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NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
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G |
Clcn4 |
chloride voltage-gated channel 4 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr X:25,016,177...25,082,563
Ensembl chr X:25,016,401...25,080,410
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G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
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G |
Cln5 |
CLN5, intracellular trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:9662406 PMID:18414213 PMID:20157158 PMID:21990111 PMID:22727047 PMID:23374165 PMID:24767253 PMID:25741868 PMID:26467025 PMID:26990548 PMID:27069701 PMID:27533158 PMID:27884173 PMID:28492532 |
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NCBI chr15:93,634,815...93,644,146
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G |
Cln6 |
CLN6, transmembrane ER protein |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:11727201 PMID:11791207 PMID:12815591 PMID:14997940 PMID:15265688 PMID:21359198 PMID:21549341 PMID:21990111 PMID:25359263 PMID:25741868 PMID:26075876 PMID:26467025 PMID:27535533 PMID:28492532 PMID:30019023 PMID:30285654 |
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NCBI chr 8:67,733,215...67,748,170
Ensembl chr 8:67,733,215...67,748,172
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G |
Cln8 |
CLN8, transmembrane ER and ERGIC protein |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:21990111 PMID:25741868 PMID:26467025 PMID:26657971 PMID:28454995 PMID:28492532 PMID:29503925 |
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NCBI chr16:79,828,321...79,838,212
Ensembl chr16:79,828,324...79,838,212
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G |
Clu |
clusterin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23266720 |
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NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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G |
Clvs2 |
clavesin 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 1:25,173,089...25,217,625
Ensembl chr 1:25,173,242...25,296,927
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G |
Cnnm2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23027747 |
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NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
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G |
Cnot1 |
CCR4-NOT transcription complex, subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr19:9,668,186...9,761,605
Ensembl chr19:9,668,186...9,761,605
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G |
Cnr1 |
cannabinoid receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12954810 |
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NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
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G |
Cntn2 |
contactin 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr13:49,280,913...49,314,061
Ensembl chr13:49,285,310...49,313,940
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G |
Cntnap2 |
contactin associated protein 2 |
|
ISO IMP |
ClinVar Annotator: match by term: Seizure DNA:deletions: |
ClinVar |
PMID:25741868, PMID:19896112, PMID:28364455, PMID:28364455 |
RGD:13450912, RGD:12880397, RGD:12880397 |
NCBI chr 4:74,700,539...77,025,463
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G |
Cntnap2em1Sage |
contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs |
|
IMP |
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RGD |
PMID:28364455 |
RGD:12880397 |
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G |
Col11a1 |
collagen type XI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
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G |
Col3a1 |
collagen type III alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
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G |
Col4a2 |
collagen type IV alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
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G |
Cpa6 |
carboxypeptidase A6 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 PMID:28492532 PMID:28761347 PMID:29358611 PMID:32581362 |
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NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
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G |
Cplx1 |
complexin 1 |
|
ISO |
|
RGD |
PMID:11163241 |
RGD:734813 |
NCBI chr14:2,194,895...2,226,610
Ensembl chr14:2,194,933...2,226,598
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G |
Cpt2 |
carnitine palmitoyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:8682496 PMID:9600456 PMID:12673791 PMID:17709715 PMID:18363739 PMID:21227726 PMID:22854105 PMID:23700290 PMID:25741868 PMID:25919294 PMID:28492532 PMID:28516040 |
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NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
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G |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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G |
Crh |
corticotropin releasing hormone |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Seizures |
CTD ClinVar |
PMID:1596084 PMID:1700951 PMID:1914160 PMID:7821275 PMID:8923670 PMID:11074187 PMID:22984453 PMID:23593457 PMID:24395520 PMID:26467025 PMID:28492532 |
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NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
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G |
Cstb |
cystatin B |
|
IEP ISO |
mRNA, protein:increased expression:brain ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:28492532, PMID:10792446 |
RGD:729930 |
NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
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G |
Ctnnbl1 |
catenin, beta like 1 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:154,212,245...154,373,170
Ensembl chr 3:154,212,202...154,373,169
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G |
Ctsa |
cathepsin A |
|
ISO |
ClinVar Annotator: match by term: Focal seizures ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,298,750...161,304,627
Ensembl chr 3:161,298,962...161,304,625
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G |
Ctsd |
cathepsin D |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:10218883 PMID:16670177 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
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G |
Ctsf |
cathepsin F |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:17828264 PMID:25741868 PMID:26467025 PMID:27120077 PMID:28492532 |
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NCBI chr 1:220,114,228...220,119,976
Ensembl chr 1:220,114,228...220,119,976
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G |
Ctss |
cathepsin S |
|
ISO |
protein:increased expression:hippocampus CA1, microglial cell |
RGD |
PMID:17997037 |
RGD:5686910 |
NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
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G |
Cyfip2 |
cytoplasmic FMR1 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:21107423 PMID:25741868 PMID:26582918 PMID:29534297 PMID:30664714 |
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NCBI chr10:31,278,746...31,419,235
Ensembl chr10:31,278,746...31,419,235
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19125849 |
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NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
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G |
Cyp2u1 |
cytochrome P450, family 2, subfamily u, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 2:236,414,131...236,431,650
Ensembl chr 2:236,414,135...236,431,683
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G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr 9:100,956,570...100,974,393
Ensembl chr 9:100,956,477...100,974,551
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G |
Daam1 |
dishevelled associated activator of morphogenesis 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr 6:94,606,675...94,739,026
Ensembl chr 6:94,636,222...94,739,026
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G |
Dbndd2 |
dysbindin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,933,833...160,938,468
Ensembl chr 3:160,935,709...160,938,467
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G |
Dcbld1 |
discoidin, CUB and LCCL domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr20:33,359,062...33,455,161
Ensembl chr20:33,359,196...33,453,766
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G |
Dcx |
doublecortin |
onset |
ISO IMP |
associated with Subcortical Band Heterotopia, X-Linked |
RGD |
PMID:18575605, PMID:20164125 |
RGD:12904723, RGD:12904732 |
NCBI chr X:115,098,675...115,175,515
Ensembl chr X:115,098,675...115,175,299
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G |
Ddx54 |
DEAD-box helicase 54 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:31256877 |
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NCBI chr12:41,469,642...41,484,887
Ensembl chr12:41,470,557...41,485,122
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G |
Dennd5a |
DENN domain containing 5A |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:27431290 PMID:27866705 |
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NCBI chr 1:174,524,047...174,588,553
Ensembl chr 1:174,524,047...174,588,529
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G |
Depdc5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:14510823 PMID:20864493 PMID:23542697 PMID:23869883 PMID:24283814 PMID:25366275 PMID:25599672 PMID:25741868 PMID:26000329 PMID:26467025 PMID:26505888 PMID:27066554 PMID:28102150 PMID:28492532 PMID:28717674 PMID:29356177 PMID:29358611 |
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NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
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G |
Dhdds |
dehydrodolichyl diphosphate synthase subunit |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 5:152,200,681...152,227,669
Ensembl chr 5:152,199,584...152,227,677
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G |
Dhx16 |
DEAH-box helicase 16 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:31256877 |
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NCBI chr20:3,368,971...3,386,087
Ensembl chr20:3,367,150...3,386,106
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G |
Dhx30 |
DExH-box helicase 30 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:29100085 |
|
NCBI chr 8:118,160,315...118,194,674
Ensembl chr 8:118,160,299...118,187,791
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G |
Dhx34 |
DExH-box helicase 34 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:31256877 |
|
NCBI chr 1:78,069,260...78,112,488
Ensembl chr 1:78,090,044...78,112,488
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G |
Dhx35 |
DEAH-box helicase 35 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:155,297,545...155,354,857
Ensembl chr 3:155,297,566...155,356,462
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G |
Dhx37 |
DEAH-box helicase 37 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:31256877 |
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NCBI chr12:36,594,058...36,614,165
Ensembl chr12:36,594,047...36,614,210
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G |
Dipk1b |
divergent protein kinase domain 1B |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 3:4,083,797...4,091,550
Ensembl chr 3:4,083,864...4,092,289
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G |
Dkk1 |
dickkopf WNT signaling pathway inhibitor 1 |
|
IMP |
|
RGD |
PMID:17437412 |
RGD:6907384 |
NCBI chr 1:248,952,896...248,956,579
Ensembl chr 1:248,895,738...248,898,607
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G |
Dlg3 |
discs large MAGUK scaffold protein 3 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr X:70,596,246...70,648,529
Ensembl chr X:70,596,576...70,648,532
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G |
Dlgap4 |
DLG associated protein 4 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:152,752,091...152,846,118
Ensembl chr 3:152,752,091...152,846,118
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G |
Dmtf1 |
cyclin D binding myb-like transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25074461 |
|
NCBI chr 4:21,862,297...21,902,798
Ensembl chr 4:21,862,313...21,902,762
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G |
Dnah7 |
dynein, axonemal, heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr 9:60,070,087...60,330,121 NCBI chr 9:59,564,253...59,595,347
Ensembl chr 9:60,070,739...60,330,125 Ensembl chr 9:60,070,739...60,330,125
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G |
Dnajc5 |
DnaJ heat shock protein family (Hsp40) member C5 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
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G |
Dnttip1 |
deoxynucleotidyltransferase, terminal, interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
|
NCBI chr 3:161,212,156...161,235,749
Ensembl chr 3:161,212,156...161,236,121
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G |
Dock7 |
dedicator of cytokinesis 7 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:117,595,194...117,780,844
Ensembl chr 5:117,596,136...117,780,777
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|
G |
Dph5 |
diphthamide biosynthesis 5 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 2:218,834,034...218,866,763
Ensembl chr 2:218,834,034...218,866,761
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G |
Dpyd |
dihydropyrimidine dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Seizure |
ClinVar |
PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:29065426 PMID:29134491 PMID:29152729 PMID:30348537 |
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NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
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G |
Drd1 |
dopamine receptor D1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1451735 PMID:1829682 |
|
NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
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G |
Drd2 |
dopamine receptor D2 |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:1829682 PMID:7936204 PMID:11860278 |
|
NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
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G |
Drd3 |
dopamine receptor D3 |
|
IEP ISO |
mRNA, increased expression:accumbens nucleus CTD Direct Evidence: therapeutic |
CTD |
PMID:18566292, PMID:11597777 |
RGD:5686415 |
NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
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|
G |
Dse |
dermatan sulfate epimerase |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr20:27,703,738...27,784,982
Ensembl chr20:27,703,732...27,782,586
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G |
Dsn1 |
DSN1 component of MIS12 kinetochore complex |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
|
NCBI chr 3:153,101,020...153,115,326
Ensembl chr 3:153,101,036...153,114,520
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G |
Dusp1 |
dual specificity phosphatase 1 |
|
IEP |
protein:increased expression:brain |
RGD |
PMID:8883936, PMID:8626780 |
RGD:2298690, RGD:728656 |
NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
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G |
Dusp6 |
dual specificity phosphatase 6 |
|
IEP |
mRNA:increased expression:brain |
RGD |
PMID:15496935, PMID:8626780 |
RGD:2316089, RGD:728656 |
NCBI chr 7:41,475,163...41,479,393
Ensembl chr 7:41,475,163...41,479,392
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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G |
Dyrk1a |
dual specificity tyrosine phosphorylation regulated kinase 1A |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:18414213 PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 PMID:25944381 PMID:28053047 PMID:28191890 PMID:28492532 PMID:29034068 PMID:32581362 |
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NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
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G |
Eef1a2 |
eukaryotic translation elongation factor 1 alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:26467025 PMID:28492532 |
|
NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
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G |
Eef1b2 |
eukaryotic translation elongation factor 1 beta 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 9:69,953,440...69,956,158
Ensembl chr 9:69,953,440...69,956,160
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G |
Egfl7 |
EGF-like-domain, multiple 7 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 3:4,034,759...4,044,280
Ensembl chr 3:4,034,921...4,043,936
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G |
Egr1 |
early growth response 1 |
|
IEP |
|
RGD |
PMID:23744421 |
RGD:10395306 |
NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
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G |
Eif2b1 |
eukaryotic translation initiation factor 2B subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr12:37,444,136...37,452,391
Ensembl chr12:37,444,072...37,465,398
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G |
Elapor2 |
endosome-lysosome associated apoptosis and autophagy regulator family member 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25074461 |
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NCBI chr 4:21,563,848...21,757,668
Ensembl chr 4:21,584,369...21,668,570
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G |
Elmo2 |
engulfment and cell motility 2 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,812,474...161,850,006
Ensembl chr 3:161,812,474...162,003,588
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G |
Emilin3 |
elastin microfibril interfacer 3 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:156,899,892...156,906,566
Ensembl chr 3:156,901,077...156,905,892
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G |
Emx2 |
empty spiracles homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 1:280,633,938...280,640,946
Ensembl chr 1:280,633,938...280,640,946
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G |
Endog |
endonuclease G |
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IEP |
|
RGD |
PMID:20077427 |
RGD:9685392 |
NCBI chr 3:8,741,833...8,744,414
Ensembl chr 3:8,741,766...8,744,592
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G |
Eno2 |
enolase 2 |
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IEP |
protein:altered expression:cerebrospinal fluid |
RGD |
PMID:15464860 |
RGD:5509052 |
NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
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G |
Epm2a |
EPM2A glucan phosphatase, laforin |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:11735300 PMID:14706656 PMID:16021330 PMID:17010495 PMID:17389303 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
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G |
Epo |
erythropoietin |
treatment |
IDA |
|
RGD |
PMID:23518641 |
RGD:10401076 |
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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G |
Eppin |
epididymal peptidase inhibitor |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,043,761...161,050,550
Ensembl chr 3:161,041,727...161,050,557
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G |
Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
|
IDA ISO |
protein:increased phosphorylation:hippocampus |
RGD |
PMID:22158510, PMID:22158510 |
RGD:10449024, RGD:10449024 |
NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
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G |
Erg |
ETS transcription factor ERG |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr11:35,645,317...35,749,637
Ensembl chr11:35,646,116...35,749,594
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G |
Ermard |
ER membrane-associated RNA degradation |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 1:56,982,742...57,008,076
Ensembl chr 1:56,982,821...57,001,665
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G |
Extl2 |
exostosin-like glycosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 2:218,951,112...218,972,576
Ensembl chr 2:218,951,141...218,971,886
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G |
Eya2 |
EYA transcriptional coactivator and phosphatase 2 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:162,285,275...162,470,642
Ensembl chr 3:162,346,490...162,470,065
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G |
Faah |
fatty acid amide hydrolase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:25933444 |
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NCBI chr 5:134,852,899...134,872,095
Ensembl chr 5:134,852,875...134,871,775
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G |
Fabp7 |
fatty acid binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:40,769,624...40,773,156
Ensembl chr20:40,769,586...40,773,349
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G |
Fam184a |
family with sequence similarity 184, member A |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:34,935,029...35,054,806
Ensembl chr20:34,936,050...35,054,881
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G |
Fam83d |
family with sequence similarity 83, member D |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:155,269,344...155,288,612
Ensembl chr 3:155,269,347...155,288,533
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G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:28492532 |
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NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
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G |
Fas |
Fas cell surface death receptor |
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IEP |
mRNA, protein:increased expression:hippocampus (rat) |
RGD |
PMID:11435933 |
RGD:8662911 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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G |
Fasn |
fatty acid synthase |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr10:109,987,735...110,005,901
Ensembl chr10:109,987,735...110,005,901
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G |
Fbxl3 |
F-box and leucine-rich repeat protein 3 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:9662406 PMID:18414213 PMID:20157158 PMID:21990111 PMID:23374165 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
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G |
Fcgr2a |
Fc fragment of IgG receptor IIa |
susceptibility |
ISO |
associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.R131H (human) |
RGD |
PMID:17596285 |
RGD:5508454 |
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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G |
Fcgr3a |
Fc fragment of IgG receptor IIIa |
susceptibility |
ISO |
associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) |
RGD |
PMID:17596285 |
RGD:5508454 |
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21269288 |
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NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
IEP |
protein:increased expression:cerebral cortex,hippocampus,neuron, astrocyrte: |
RGD |
PMID:8072686 |
RGD:10402045 |
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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G |
Fitm2 |
fat storage-inducing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:159,856,994...159,863,506
Ensembl chr 3:159,856,994...159,863,506
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G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr X:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
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G |
Folr1 |
folate receptor alpha |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:21937992 PMID:25741868 PMID:27535533 PMID:27884173 PMID:28492532 PMID:29661558 PMID:29961769 |
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NCBI chr 1:166,934,457...166,945,864
Ensembl chr 1:166,934,460...166,943,592
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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 |
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NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
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G |
Fosl1 |
FOS like 1, AP-1 transcription factor subunit |
|
IEP |
protein:increased expression:hippocampus |
RGD |
PMID:11488404 |
RGD:2293787 |
NCBI chr 1:220,826,560...220,835,066
Ensembl chr 1:220,826,560...220,835,066
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G |
Foxg1 |
forkhead box G1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18627055 |
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NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037
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G |
Foxp1 |
forkhead box P1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
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G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
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G |
Frrs1l |
ferric-chelate reductase 1-like |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:21147040 PMID:25741868 PMID:27236917 PMID:27239025 PMID:28492532 PMID:32860008 |
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NCBI chr 5:73,997,958...74,029,381
Ensembl chr 5:74,000,227...74,029,238
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G |
Gabbr1 |
gamma-aminobutyric acid type B receptor subunit 1 |
|
IEP IDA |
protein:altered location:forebrain |
RGD |
PMID:19054408, PMID:15153780 |
RGD:2315437, RGD:2315492 |
NCBI chr20:1,955,344...1,984,907
Ensembl chr20:1,955,359...1,984,863
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G |
Gabbr2 |
gamma-aminobutyric acid type B receptor subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 5:62,276,100...62,621,737
Ensembl chr 5:62,276,100...62,621,737
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G |
Gabra1 |
gamma-aminobutyric acid type A receptor subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:16530959 PMID:16569738 PMID:18414213 PMID:24623842 PMID:24909990 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532 PMID:30949046 |
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NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
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G |
Gabra5 |
gamma-aminobutyric acid type A receptor subunit alpha 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Seizures |
CTD ClinVar |
PMID:8985701 |
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NCBI chr 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451
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G |
Gabrb1 |
gamma-aminobutyric acid type A receptor subunit beta1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr14:38,631,192...39,112,598
Ensembl chr14:38,643,385...39,112,600
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G |
Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:18514161 PMID:19935738 PMID:20550555 PMID:25726841 PMID:25741868 PMID:26467025 PMID:26845707 PMID:26950270 PMID:28492532 |
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NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
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G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
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G |
Gabrg2 |
gamma-aminobutyric acid type A receptor subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:23708187 PMID:25726841 PMID:25730860 PMID:25741868 PMID:26467025 PMID:27864268 PMID:28492532 PMID:29100083 PMID:29358611 |
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NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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G |
Gad2 |
glutamate decarboxylase 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8954991 PMID:8985701, PMID:8954991 |
RGD:1302511 |
NCBI chr17:89,171,576...89,234,770
Ensembl chr17:89,171,250...89,238,040
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G |
Gal |
galanin and GMAP prepropeptide |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 1:218,653,059...218,657,922
Ensembl chr 1:218,652,917...218,657,925
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G |
Gamt |
guanidinoacetate N-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Seizures |
CTD ClinVar |
PMID:15651030 |
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NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
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G |
Gap43 |
growth associated protein 43 |
|
IEP |
|
RGD |
PMID:11054811 |
RGD:9685329 |
NCBI chr11:58,624,198...58,717,916
Ensembl chr11:58,624,198...58,717,914
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G |
Gatm |
glycine amidinotransferase |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
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G |
Gch1 |
GTP cyclohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
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G |
Gdap1l1 |
ganglioside-induced differentiation-associated protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:159,823,791...159,843,260
Ensembl chr 3:159,823,878...159,842,278
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G |
Gdpd2 |
glycerophosphodiester phosphodiesterase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr X:70,563,381...70,572,295
Ensembl chr X:70,563,570...70,572,295
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G |
Gfap |
glial fibrillary acidic protein |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
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G |
Ghr |
growth hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:10984309 PMID:25741868 |
|
NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
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G |
Ghrh |
growth hormone releasing hormone |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
|
NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
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G |
Ghrl |
ghrelin and obestatin prepropeptide |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19429016 |
|
NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
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G |
Gja1 |
gap junction protein, alpha 1 |
|
IEP ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:14622215 |
RGD:1299355 |
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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G |
Gjb6 |
gap junction protein, beta 6 |
|
IEP |
|
RGD |
PMID:23149765 |
RGD:7364770 |
NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
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G |
Gli2 |
GLI family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Seizure ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
|
NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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G |
Glud1 |
glutamate dehydrogenase 1 |
|
IEP |
|
RGD |
PMID:11240587 |
RGD:6484589 |
NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
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G |
Glul |
glutamate-ammonia ligase |
|
IDA |
|
RGD |
PMID:21935729 |
RGD:10047087 |
NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
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G |
Gnai1 |
G protein subunit alpha i1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25074461 |
|
NCBI chr 4:13,405,136...13,486,866
Ensembl chr 4:13,405,136...13,485,883
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G |
Gnat3 |
G protein subunit alpha transducin 3 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25074461 |
|
NCBI chr 4:13,827,764...13,878,126
Ensembl chr 4:13,827,756...13,878,126
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G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures, tonic-clonic |
ClinVar |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:30194818 PMID:31735425 PMID:32963807 |
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NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
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G |
Gnb3 |
G protein subunit beta 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18855531 |
|
NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
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|
G |
Gne |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
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|
G |
Gopc |
golgi associated PDZ and coiled-coil motif containing |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr20:33,471,355...33,521,281
Ensembl chr20:33,471,351...33,521,311
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G |
Gosr2 |
golgi SNAP receptor complex member 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081
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G |
Gphn |
gephyrin |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 6:101,327,874...101,859,169
Ensembl chr 6:101,532,518...101,859,164
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G |
Gpld1 |
glycosylphosphatidylinositol specific phospholipase D1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:42,085,027...42,131,344
Ensembl chr17:42,085,028...42,127,678
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G |
Gprc6a |
G protein-coupled receptor, class C, group 6, member A |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr20:32,607,653...32,628,953
Ensembl chr20:32,607,653...32,628,953
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G |
Gria1 |
glutamate ionotropic receptor AMPA type subunit 1 |
|
IEP |
mRNA:increased expression:hippocampus (rat) |
RGD |
PMID:19666089 |
RGD:4107726 |
NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
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G |
Gria2 |
glutamate ionotropic receptor AMPA type subunit 2 |
|
ISO |
|
RGD |
PMID:7502080 |
RGD:737715 |
NCBI chr 2:179,584,302...179,704,629
Ensembl chr 2:179,584,308...179,704,629
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G |
Grik1 |
glutamate ionotropic receptor kainate type subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12080343 |
|
NCBI chr11:27,811,954...28,213,940
Ensembl chr11:27,811,957...27,971,359
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G |
Grik2 |
glutamate ionotropic receptor kainate type subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr20:53,791,428...54,517,691
Ensembl chr20:53,789,760...54,517,709
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G |
Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
|
IMP |
|
RGD |
PMID:12080343 |
RGD:625595 |
NCBI chr 1:81,885,516...81,946,731
Ensembl chr 1:81,885,521...81,946,714
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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G |
Grin2d |
glutamate ionotropic receptor NMDA type subunit 2D |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr 1:101,819,068...101,859,146
Ensembl chr 1:101,820,461...101,856,881
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G |
Grm3 |
glutamate metabotropic receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25074461 |
|
NCBI chr 4:21,316,761...21,567,561
Ensembl chr 4:21,317,695...21,560,490
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G |
Grm7 |
glutamate metabotropic receptor 7 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 4:142,452,616...143,368,460
Ensembl chr 4:142,780,987...143,367,578
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G |
Grm8 |
glutamate metabotropic receptor 8 |
|
IDA |
|
RGD |
PMID:17434465 |
RGD:6771182 |
NCBI chr 4:54,474,344...55,409,526
Ensembl chr 4:54,474,136...55,407,922
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G |
Grn |
granulin precursor |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:16950801 PMID:17202431 PMID:17228326 PMID:17345602 PMID:17371905 PMID:17436289 PMID:17984093 PMID:18183624 PMID:18184915 PMID:18223198 PMID:18234697 PMID:18314228 PMID:18464284 PMID:18543312 PMID:18565828 PMID:18752597 PMID:18838661 PMID:19012866 PMID:19158106 PMID:19632744 PMID:19649643 PMID:20020531 PMID:20028451 PMID:20142524 PMID:21800185 PMID:22312439 PMID:22995991 PMID:23684369 PMID:23724906 PMID:23742080 PMID:23759146 PMID:23990795 PMID:24503614 PMID:25104557 PMID:25333068 PMID:25741868 PMID:26159191 PMID:26467025 PMID:26652843 PMID:26811050 PMID:27632209 PMID:27790088 PMID:27884173 PMID:27997711 PMID:28492532 PMID:30279455 |
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NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
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G |
Gtsf1l |
gametocyte specific factor 1-like |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:159,452,355...159,453,243
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G |
Hcn1 |
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20384728, PMID:17988239 |
RGD:9686135 |
NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
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|
G |
Hcn2 |
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 |
|
IEP ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:17988239 |
RGD:9686135 |
NCBI chr 7:12,851,730...12,870,087
Ensembl chr 7:12,851,739...12,874,215
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G |
Hdac2 |
histone deacetylase 2 |
|
IEP |
protein:increased expression:hippocampus & cortex: |
RGD |
PMID:21987499 |
RGD:9590259 |
NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
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G |
Hdac4 |
histone deacetylase 4 |
|
ISO |
|
RGD |
PMID:19672313 |
RGD:9681457 |
NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
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|
G |
Hgf |
hepatocyte growth factor |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25074461 |
|
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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G |
Hgsnat |
heparan-alpha-glucosaminide N-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr16:70,876,557...70,909,443
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G |
Hivep1 |
HIVEP zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr17:22,278,103...22,403,362
Ensembl chr17:22,278,798...22,311,392
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G |
Hk1 |
hexokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
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G |
Hlcs |
holocarboxylase synthetase |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr11:34,357,372...34,537,798
Ensembl chr11:34,352,287...34,526,931
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G |
Hnf4a |
hepatocyte nuclear factor 4, alpha |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
|
NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
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|
G |
Hnrnpu |
heterogeneous nuclear ribonucleoprotein U |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25326635 PMID:25741868 PMID:28815871 |
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NCBI chr13:96,222,093...96,238,845
Ensembl chr13:96,225,912...96,238,572
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G |
Hrh3 |
histamine receptor H3 |
|
IDA |
|
RGD |
PMID:15319804 |
RGD:1626432 |
NCBI chr 3:175,474,310...175,479,395
Ensembl chr 3:175,473,078...175,479,395
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|
G |
Hsf2 |
heat shock transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr20:38,935,820...38,963,444
Ensembl chr20:38,935,820...38,963,309
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G |
Hspa1a |
heat shock protein family A (Hsp70) member 1A |
severity |
ISO |
protein:increased expression:cerebral spinal fluid: |
RGD |
PMID:22509781 |
RGD:7257648 |
NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
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|
G |
Hspa5 |
heat shock protein family A (Hsp70) member 5 |
|
IEP |
protein:increased expression:hippocampus: |
RGD |
PMID:25219120 |
RGD:11354919 |
NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
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|
G |
Htr1a |
5-hydroxytryptamine receptor 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:2533336 PMID:12646302 PMID:16313900 |
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NCBI chr 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
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|
G |
Htr1b |
5-hydroxytryptamine receptor 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2533336 |
|
NCBI chr 8:89,113,984...89,130,830
Ensembl chr 8:89,129,453...89,130,991
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|
G |
Htra1 |
HtrA serine peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:19387015 PMID:25741868 PMID:26063658 PMID:32101834 PMID:32581362 |
|
NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
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|
G |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr X:21,474,627...21,603,348
Ensembl chr X:21,499,934...21,598,876
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G |
Ice2 |
interactor of little elongation complex ELL subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr 8:75,625,147...75,666,959
Ensembl chr 8:75,625,174...75,666,866
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27469509 |
|
NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
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|
G |
Ifnb1 |
interferon beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12432978 |
|
NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
|
|
G |
Ifng |
interferon gamma |
|
IEP |
mRNA:increased expression:hippocampus: |
RGD |
PMID:19944569 |
RGD:10755768 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
|
|
G |
Ift52 |
intraflagellar transport 52 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
|
NCBI chr 3:159,388,868...159,413,358
Ensembl chr 3:159,392,193...159,413,575
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G |
Il1b |
interleukin 1 beta |
|
IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16824509, PMID:16886979 |
RGD:2315919 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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|
G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12836160 |
|
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Il6r |
interleukin 6 receptor |
|
IEP |
mRNA:increased expression:hippocampus |
RGD |
PMID:12591161 |
RGD:1625441 |
NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
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G |
Il6st |
interleukin 6 cytokine family signal transducer |
|
IEP |
|
RGD |
PMID:14597225 |
RGD:1627572 |
NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
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G |
Impa1 |
inositol monophosphatase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17460611 |
|
NCBI chr 2:93,675,203...93,696,355
Ensembl chr 2:93,675,203...93,696,232
|
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G |
Ino80 |
INO80 complex ATPase subunit |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25558065 |
|
NCBI chr 3:111,186,371...111,266,542
Ensembl chr 3:111,187,711...111,266,542
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|
G |
Ins2 |
insulin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4115818 PMID:14714756 |
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NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr X:22,212,137...22,293,810
Ensembl chr X:22,212,132...22,294,402
|
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G |
Irf2bpl |
interferon regulatory factor 2 binding protein-like |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:30057031 |
|
NCBI chr 6:110,901,940...110,904,288
Ensembl chr 6:110,901,940...110,904,288
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G |
Itpa |
inosine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
|
|
G |
Jph2 |
junctophilin 2 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
|
NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
|
|
G |
Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
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NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
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G |
Kat6b |
lysine acetyltransferase 6B |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
|
NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
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G |
Kcna1 |
potassium voltage-gated channel subfamily A member 1 |
|
IAGP |
|
RGD |
PMID:22206926 |
RGD:10047237 |
NCBI chr 4:159,190,781...159,192,526
Ensembl chr 4:159,190,804...159,192,526
|
|
G |
Kcna1Adms |
potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures |
|
IAGP |
|
RGD |
PMID:22206926 |
RGD:10047237 |
|
|
G |
Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Seizures |
CTD ClinVar |
PMID:25741868 PMID:25751627 PMID:26467025 PMID:28019661 PMID:28492532 |
|
NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
|
|
G |
Kcnb1 |
potassium voltage-gated channel subfamily B member 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
|
|
G |
Kcnc1 |
potassium voltage-gated channel subfamily C member 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:26467025 PMID:28492532 |
|
NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
|
|
G |
Kcnd3 |
potassium voltage-gated channel subfamily D member 3 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
|
|
G |
Kcnh1 |
potassium voltage-gated channel subfamily H member 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:26264464 PMID:26818738 PMID:32581362 PMID:32860008 |
|
NCBI chr13:110,920,712...111,232,291
Ensembl chr13:110,920,737...111,232,269
|
|
G |
Kcnh5 |
potassium voltage-gated channel subfamily H member 5 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:97,872,831...98,157,087
Ensembl chr 6:97,872,831...98,157,087
|
|
G |
Kcnj1 |
potassium inwardly-rectifying channel, subfamily J, member 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
|
|
G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:21458570 PMID:23965030 PMID:24378235 PMID:25741868 PMID:26467025 PMID:27182706 PMID:27535533 PMID:27677466 PMID:27884173 PMID:28492532 PMID:29615871 PMID:30304693 |
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NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
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