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 epilepsy |
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Accession: | DOID:11832
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browse the term
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Definition: | Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or 'seizure disorder.' |
Synonyms: | exact_synonym: | Auditory Seizure; Auditory Seizures; Clonic Seizure; Clonic Seizures; Convulsion; Convulsions; Convulsive Seizure; Convulsive Seizures; Focal Seizure; Focal Seizures; Generalized Seizure; Generalized Seizures; Gustatory Seizure; Gustatory Seizures; Jacksonian Seizure; Motor Seizure; Motor Seizures; Non-Epileptic Convulsion; Non-Epileptic Convulsions; Olfactory Seizure; Olfactory Seizures; Seizure; Seizures; Sensory Seizure; Sensory Seizures; Somatosensory Seizure; Somatosensory Seizures; Tonic Seizure; Tonic Seizures; Tonic-Clonic Seizure; Tonic-Clonic Seizures; Vertiginous Seizure; Vertiginous Seizures; Vestibular Seizure; Vestibular Seizures; Visual Seizure; Visual Seizures |
| narrow_synonym: | SEIZURES AND LACTIC ACIDOSIS |
| primary_id: | MESH:D012640; RDO:0000597 |
| xref: | NCI:C3980 |
For additional species annotation, visit the
Alliance of Genome Resources.
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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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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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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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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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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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Acat1 |
acetyl-CoA acetyltransferase 1 |
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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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Ache |
acetylcholinesterase |
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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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Acot8 |
acyl-CoA thioesterase 8 |
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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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Acp2 |
acid phosphatase 2, lysosomal |
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ISO |
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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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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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Actr5 |
actin related protein 5 |
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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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Ada |
adenosine deaminase |
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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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Adam22 |
ADAM metallopeptidase domain 22 |
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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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Adamts1 |
ADAM metallopeptidase with thrombospondin type 1 motif, 1 |
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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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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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Adcyap1 |
adenylate cyclase activating polypeptide 1 |
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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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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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Adgrv1 |
adhesion G protein-coupled receptor V1 |
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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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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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Adipoq |
adiponectin, C1Q and collagen domain containing |
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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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Adora2a |
adenosine A2a receptor |
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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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Adra1b |
adrenoceptor alpha 1B |
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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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Adra2b |
adrenoceptor alpha 2B |
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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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Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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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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Agt |
angiotensinogen |
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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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Aif1 |
allograft inflammatory factor 1 |
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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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Alad |
aminolevulinate dehydratase |
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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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Aldh5a1 |
aldehyde dehydrogenase 5 family, member A1 |
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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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Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
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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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Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
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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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Alg3 |
ALG3, alpha-1,3- mannosyltransferase |
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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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Alpl |
alkaline phosphatase, biomineralization associated |
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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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Amacr |
alpha-methylacyl-CoA racemase |
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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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Amt |
aminomethyltransferase |
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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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Amy1a |
amylase, alpha 1A |
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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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Ankh |
ANKH inorganic pyrophosphate transport regulator |
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IEP |
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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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Ankrd11 |
ankyrin repeat domain 11 |
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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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Ap3b2 |
adaptor related protein complex 3 subunit beta 2 |
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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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Apaf1 |
apoptotic peptidase activating factor 1 |
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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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Apc2 |
APC regulator of WNT signaling pathway 2 |
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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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Apex1 |
apurinic/apyrimidinic endodeoxyribonuclease 1 |
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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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Apoe |
apolipoprotein E |
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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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App |
amyloid beta precursor protein |
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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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Arc |
activity-regulated cytoskeleton-associated protein |
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IEP |
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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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Arfgef1 |
ADP ribosylation factor guanine nucleotide exchange factor 1 |
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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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Arhgap40 |
Rho GTPase activating protein 40 |
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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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Arid1a |
AT-rich interaction domain 1A |
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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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Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:15057123 PMID:22405089 PMID:25741868 PMID:27474218 PMID:28323383 |
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NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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Arpin |
actin-related protein 2/3 complex inhibitor |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 1:141,664,790...141,672,789
Ensembl chr 1:141,662,850...141,672,810
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Arr3 |
arrestin 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr X:70,438,590...70,452,140
Ensembl chr X:70,438,617...70,452,067
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Asf1a |
anti-silencing function 1A histone chaperone |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:34,894,419...34,909,265
Ensembl chr20:34,894,419...34,909,265
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Ash1l |
ASH1 like histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 2:188,252,592...188,389,251
Ensembl chr 2:188,253,220...188,389,250
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Asic1 |
acid sensing ion channel subunit 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr 7:141,324,714...141,354,937
Ensembl chr 7:141,326,321...141,354,937
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Aspm |
assembly factor for spindle microtubules |
susceptibility |
ISO |
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RGD |
PMID:16141009 |
RGD:1599300 |
NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
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Asxl1 |
ASXL transcriptional regulator 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
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Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:22842232 PMID:25741868 PMID:26297560 PMID:26410222 PMID:28492532 |
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NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
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Atp6v0c |
ATPase H+ transporting V0 subunit C |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,537,031...13,543,407
Ensembl chr10:13,537,033...13,542,077
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Atp7a |
ATPase copper transporting alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22815746 |
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NCBI chr X:77,076,085...77,193,644
Ensembl chr X:77,076,106...77,193,644
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Aven |
apoptosis and caspase activation inhibitor |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 3:103,980,612...104,117,193
Ensembl chr 3:104,042,168...104,117,192
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Bad |
BCL2-associated agonist of cell death |
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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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Bag3 |
BAG cochaperone 3 |
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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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Bche |
butyrylcholinesterase |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8667461 PMID:18597747 PMID:20971807 |
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NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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Bckdk |
branched chain ketoacid dehydrogenase kinase |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr 1:199,351,628...199,356,299
Ensembl chr 1:199,351,628...199,356,881
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Bcorl1 |
BCL6 co-repressor-like 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr X:135,187,468...135,233,859
Ensembl chr X:135,187,468...135,233,839
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Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
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Bdnf |
brain-derived neurotrophic factor |
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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
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Bet1 |
Bet1 golgi vesicular membrane trafficking protein |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr 4:29,082,368...29,092,638
Ensembl chr 4:29,082,365...29,092,753
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Bex3 |
brain expressed X-linked 3 |
treatment |
IEP |
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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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Bicd2 |
BICD cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:30054298 |
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NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
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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
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|
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
|
|
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 |
|
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
|
|
G |
Brpf1 |
bromodomain and PHD finger containing, 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr 4:145,264,445...145,280,943
Ensembl chr 4:145,264,462...145,280,857
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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 |
|
|
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 |
|
|
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 |
|
|
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
|
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G |
Cacng2 |
calcium voltage-gated channel auxiliary subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr 7:119,228,112...119,353,332
Ensembl chr 7:119,228,102...119,352,605
|
|
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
|
|
G |
Calhm4 |
calcium homeostasis modulator family member 4 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr20:27,573,809...27,578,269
Ensembl chr20:27,575,533...27,578,244
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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 |
|
|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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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
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|
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
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|
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 |
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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 |
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
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|
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
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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
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G |
Chrnb4 |
cholinergic receptor nicotinic beta 4 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14996991 PMID:15275829 |
|
NCBI chr 8:59,610,489...59,629,073
Ensembl chr 8:59,609,693...59,629,133
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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 |
|
NCBI chr 6:135,290,528...135,304,422
Ensembl chr 6:135,290,530...135,304,422
|
|
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
|
|
G |
CitfhJjlo |
citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo |
|
IAGP |
|
RGD |
PMID:10219263 |
RGD:13204836 |
|
|
G |
Clcn2 |
chloride voltage-gated channel 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:17762171 PMID:28492532 |
|
NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
|
|
G |
Clcn4 |
chloride voltage-gated channel 4 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr X:25,016,177...25,082,563
Ensembl chr X:25,016,401...25,080,410
|
|
G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
|
|
G |
Cln5 |
CLN5, intracellular trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:9662406 PMID:18414213 PMID:20157158 PMID:21990111 PMID:22727047 PMID:23374165 PMID:24767253 PMID:25741868 PMID:26467025 PMID:26990548 PMID:27069701 PMID:27533158 PMID:27884173 PMID:28492532 |
|
NCBI chr15:93,634,815...93,644,146
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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 |
|
NCBI chr 8:67,733,215...67,748,170
Ensembl chr 8:67,733,215...67,748,172
|
|
G |
Cln8 |
CLN8, transmembrane ER and ERGIC protein |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:21990111 PMID:25741868 PMID:26467025 PMID:26657971 PMID:28454995 PMID:28492532 PMID:29503925 |
|
NCBI chr16:79,828,321...79,838,212
Ensembl chr16:79,828,324...79,838,212
|
|
G |
Clu |
clusterin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23266720 |
|
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
|
|
G |
Clvs2 |
clavesin 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr 1:25,173,089...25,217,625
Ensembl chr 1:25,173,242...25,296,927
|
|
G |
Cnnm2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23027747 |
|
NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
|
|
G |
Cnot1 |
CCR4-NOT transcription complex, subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr19:9,668,186...9,761,605
Ensembl chr19:9,668,186...9,761,605
|
|
G |
Cnr1 |
cannabinoid receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12954810 |
|
NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
|
|
G |
Cntn2 |
contactin 2 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr13:49,280,913...49,314,061
Ensembl chr13:49,285,310...49,313,940
|
|
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
|
|
G |
Cntnap2em1Sage |
contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs |
|
IMP |
|
RGD |
PMID:28364455 |
RGD:12880397 |
|
|
G |
Col11a1 |
collagen type XI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
|
|
G |
Col18a1 |
collagen type XVIII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
|
|
NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
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G |
Col3a1 |
collagen type III alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
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G |
Col4a2 |
collagen type IV alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
|
NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
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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 |
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
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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 |
|
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 |
|
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 |
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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 |
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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 |
Dnttip1 |
deoxynucleotidyltransferase, terminal, interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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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 |
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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 |
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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 |
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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 |
|
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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 |
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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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
|
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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 |
|
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 |
|
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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 |
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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 |
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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 |
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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 |
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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 |
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ISO |
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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 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25074461 |
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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 |
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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 |
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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 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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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 |
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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 |
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IDA |
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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 |
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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 |
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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 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2533336 |
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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 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:19387015 PMID:25741868 PMID:26063658 PMID:32101834 PMID:32581362 |
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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 |
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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 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27469509 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12432978 |
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NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
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G |
Ifng |
interferon gamma |
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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
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G |
Ift52 |
intraflagellar transport 52 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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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 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12836160 |
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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 |
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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 |
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IEP |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17460611 |
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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 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25558065 |
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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 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:30057031 |
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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 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
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G |
Jph2 |
junctophilin 2 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
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G |
Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
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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 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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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 |
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IAGP |
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RGD |
PMID:22206926 |
RGD:10047237 |
NCBI chr 4:159,190,781...159,192,526
Ensembl chr 4:159,190,804...159,192,526
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G |
Kcna1Adms |
potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures |
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IAGP |
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RGD |
PMID:22206926 |
RGD:10047237 |
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G |
Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Seizures |
CTD ClinVar |
PMID:25741868 PMID:25751627 PMID:26467025 PMID:28019661 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 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
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G |
Kcnc1 |
potassium voltage-gated channel subfamily C member 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
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G |
Kcnd3 |
potassium voltage-gated channel subfamily D member 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
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G |
Kcnh1 |
potassium voltage-gated channel subfamily H member 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:26264464 PMID:26818738 PMID:32581362 PMID:32860008 |
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NCBI chr13:110,920,712...111,232,291
Ensembl chr13:110,920,737...111,232,269
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G |
Kcnh5 |
potassium voltage-gated channel subfamily H member 5 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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 |
Kcnj1 |
potassium inwardly-rectifying channel, subfamily J, member 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
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G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
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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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G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
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IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18021373, PMID:18021373 |
RGD:2301911 |
NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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G |
Kcnj15 |
potassium inwardly-rectifying channel, subfamily J, member 15 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr11:35,545,185...35,588,517
Ensembl chr11:35,568,182...35,585,390
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G |
Kcnj6 |
potassium inwardly-rectifying channel, subfamily J, member 6 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr11:35,011,007...35,262,362
Ensembl chr11:35,024,196...35,099,383
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G |
Kcnk15 |
potassium two pore domain channel subfamily K member 15 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,231,914...160,238,132
Ensembl chr 3:160,231,914...160,238,132
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G |
Kcnk4 |
potassium two pore domain channel subfamily K member 4 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:30290154 |
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NCBI chr 1:222,182,997...222,192,139
Ensembl chr 1:222,183,276...222,189,604
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G |
Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Seizures CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:3360469 PMID:9425895 PMID:9872318 PMID:11690625 PMID:12754513 PMID:14534157 PMID:14985406 PMID:17475800 PMID:18414213 PMID:18483067 PMID:19380078 PMID:19453707 PMID:20119593 PMID:21685056 PMID:22013194 PMID:22275249 PMID:22926866 PMID:23360469 PMID:23621294 PMID:23692823 PMID:23708187 PMID:24107868 PMID:24375629 PMID:24586341 PMID:24904429 PMID:25533962 PMID:25740509 PMID:25741868 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26138355 PMID:26467025 PMID:26704558 PMID:26795593 PMID:27334371 PMID:27466704 PMID:27535030 PMID:27602407 PMID:27779742 PMID:28399683 PMID:28492532 PMID:28717674 PMID:28867141 PMID:29056246 PMID:29263209 PMID:29720203 PMID:30185235 PMID:31152295 PMID:31199083 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 |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:21703448 PMID:23596459 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 |
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NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
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G |
Kcnq5 |
potassium voltage-gated channel subfamily Q member 5 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 9:27,565,869...28,141,114
Ensembl chr 9:27,562,959...27,761,733
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G |
Kcns1 |
potassium voltage-gated channel, modifier subfamily S, member 1 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,554,423...160,561,820
Ensembl chr 3:160,554,425...160,561,741
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:18414213 PMID:25339316 PMID:25741868 PMID:26105150 PMID:26140313 PMID:26467025 PMID:26740507 PMID:26786403 PMID:27029629 PMID:28488083 PMID:28492532 PMID:28554332 PMID:29358611 PMID:29422393 |
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NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
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G |
Kcnt2 |
potassium sodium-activated channel subfamily T member 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:32038177 |
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NCBI chr13:57,130,855...57,520,263
Ensembl chr13:57,131,395...57,521,836
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G |
Kctd7 |
potassium channel tetramerization domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr12:30,024,080...30,033,357
Ensembl chr12:30,024,081...30,033,357
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G |
Kdm3b |
lysine demethylase 3B |
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IDA |
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RGD |
PMID:24397026 |
RGD:9590119 |
NCBI chr18:27,593,823...27,631,129
Ensembl chr18:27,576,129...27,631,088
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G |
Kdm5c |
lysine demethylase 5C |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr X:22,302,664...22,349,298
Ensembl chr X:22,302,485...22,348,627
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G |
Kdm6b |
lysine demethylase 6B |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr10:56,000,494...56,009,582
Ensembl chr10:56,001,799...56,008,885
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G |
Kif1a |
kinesin family member 1A |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
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G |
Kif2a |
kinesin family member 2A |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 2:38,145,507...38,208,765
Ensembl chr 2:38,147,601...38,208,719
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G |
Kif4a |
kinesin family member 4A |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr X:70,461,700...70,561,084
Ensembl chr X:70,461,718...70,561,189
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G |
Klln |
killin, p53-regulated DNA replication inhibitor |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25669429 PMID:25741868 PMID:27535533 |
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NCBI chr 1:251,417,849...251,420,794
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G |
Kmt2c |
lysine methyltransferase 2C |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 4:82,506...109,986 NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
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G |
Kmt2d |
lysine methyltransferase 2D |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
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G |
Kpna5 |
karyopherin subunit alpha 5 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:32,509,573...32,573,591
Ensembl chr20:32,509,598...32,572,250
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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G |
L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
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ISO |
DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human) |
RGD |
PMID:24894778 |
RGD:13506818 |
NCBI chr 6:92,016,560...92,057,643
Ensembl chr 6:92,016,622...92,057,816
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G |
L3mbtl1 |
L3MBTL histone methyl-lysine binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:159,316,580...159,348,914
Ensembl chr 3:159,321,310...159,347,631
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G |
Lamc3 |
laminin subunit gamma 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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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 |
Lbp |
lipopolysaccharide binding protein |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:154,786,232...154,812,910
Ensembl chr 3:154,786,215...154,813,464
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G |
Lep |
leptin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17993459 |
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NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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G |
Letm1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14706454 |
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NCBI chr14:82,227,790...82,267,298
Ensembl chr14:82,227,708...82,267,350
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G |
Lgi1 |
leucine-rich, glioma inactivated 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:21504429 PMID:25741868 PMID:26773249 PMID:28492532 |
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NCBI chr 1:256,955,944...256,996,835
Ensembl chr 1:256,955,652...256,999,253
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G |
Lpin3 |
lipin 3 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:156,874,805...156,899,601
Ensembl chr 3:156,886,454...156,899,436
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G |
Lrpprc |
leucine-rich pentatricopeptide repeat containing |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868
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G |
Lyst |
lysosomal trafficking regulator |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr17:90,323,055...90,522,091
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G |
Macf1 |
microtubule-actin crosslinking factor 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
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G |
Maf |
MAF bZIP transcription factor |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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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 |
Mafb |
MAF bZIP transcription factor B |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
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G |
Magel2 |
MAGE family member L2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
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G |
Man1a1 |
mannosidase, alpha, class 1A, member 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:35,257,688...35,450,132
Ensembl chr20:35,257,985...35,450,513
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G |
Man1b1 |
mannosidase, alpha, class 1B, member 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 3:2,547,259...2,569,051
Ensembl chr 3:2,547,986...2,569,049
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G |
Manbal |
mannosidase beta like |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:153,491,151...153,520,736
Ensembl chr 3:153,491,151...153,520,735
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G |
Map1b |
microtubule-associated protein 1B |
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IEP ISO |
mRNA, protein:altered localization:brain ClinVar Annotator: match by term: Seizures mRNA:increased expression:hippocampus |
ClinVar |
PMID:11395167, PMID:12598335 |
RGD:2304062, RGD:2304015 |
NCBI chr 2:29,675,391...29,768,750
Ensembl chr 2:29,675,391...29,768,750
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G |
Map3k5 |
mitogen-activated protein kinase kinase kinase 5 |
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IEP |
protein:increased expression:CA1 field of hippocampus: |
RGD |
PMID:12786973 |
RGD:2298728 |
NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
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G |
Mapk8ip3 |
mitogen-activated protein kinase 8 interacting protein 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr10:14,259,394...14,299,276
Ensembl chr10:14,260,787...14,299,167
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G |
Marcks |
myristoylated alanine rich protein kinase C substrate |
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IEP |
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RGD |
PMID:11054811 |
RGD:9685329 |
NCBI chr20:42,966,140...42,971,838
Ensembl chr20:42,966,140...42,971,838
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G |
Marcksl1 |
MARCKS-like 1 |
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IEP |
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RGD |
PMID:11054811 |
RGD:9685329 |
NCBI chr 5:147,714,163...147,716,486
Ensembl chr 5:147,714,163...147,716,485
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G |
Matn4 |
matrilin 4 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,838,632...160,853,650
Ensembl chr 3:160,838,632...160,853,650
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G |
Mbd1 |
methyl-CpG binding domain protein 1 |
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IEP |
mRNA:increased expression:dentate gyrus |
RGD |
PMID:12123686 |
RGD:9587847 |
NCBI chr18:70,248,568...70,263,190
Ensembl chr18:70,248,713...70,263,164
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G |
Mbd2 |
methyl-CpG binding domain protein 2 |
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IEP |
mRNA:increased expression:hippocampus |
RGD |
PMID:12123686 |
RGD:9587847 |
NCBI chr18:65,814,026...65,885,115
Ensembl chr18:65,814,026...65,885,114
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G |
Mbd3 |
methyl-CpG binding domain protein 3 |
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IEP |
mRNA:increased expression:hippocampus |
RGD |
PMID:12123686 |
RGD:9587847 |
NCBI chr 7:12,179,046...12,186,251
Ensembl chr 7:12,179,203...12,186,656
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G |
Mbd5 |
methyl-CpG binding domain protein 5 |
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ISO |
ClinVar Annotator: match by term: Seizures, tonic-clonic |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
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G |
Mcm9 |
minichromosome maintenance 9 homologous recombination repair factor |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:34,818,093...34,930,157
Ensembl chr20:34,846,804...34,929,965
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G |
Mdga2 |
MAM domain containing glycosylphosphatidylinositol anchor 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 6:88,442,620...89,292,454
Ensembl chr 6:88,447,749...88,917,070
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G |
Mecp2 |
methyl CpG binding protein 2 |
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IEP ISO |
mRNA:increased expression:dentate gyrus ClinVar Annotator: match by term: Seizures CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:10767337 PMID:10854091 PMID:11245712 PMID:11524741 PMID:12075485 PMID:12111643 PMID:12180070 PMID:16473305 PMID:16690727 PMID:17089071 PMID:17142618 PMID:17387578 PMID:18174559 PMID:19921286 PMID:21160487 PMID:21954873 PMID:22277191 PMID:25741868 PMID:28492532, PMID:12123686 |
RGD:9587847 |
NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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G |
Med13 |
mediator complex subunit 13 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr10:73,702,327...73,787,084
Ensembl chr10:73,702,327...73,787,083
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G |
Mef2c |
myocyte enhancer factor 2C |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787
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G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:18414213 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25227500 PMID:25333361 PMID:25741868 PMID:26467025 PMID:26681805 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28586915 PMID:29924869 |
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NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
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G |
Mib1 |
MIB E3 ubiquitin protein ligase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20943912 |
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NCBI chr18:1,970,914...2,094,920
Ensembl chr18:1,970,914...2,094,920
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G |
Mir126b |
microRNA 126b |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 3:4,042,488...4,042,560
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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G |
Mpdz |
multiple PDZ domain crumbs cell polarity complex component |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14960011 |
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NCBI chr 5:99,413,184...99,566,356
Ensembl chr 5:99,413,187...99,566,318
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G |
Mroh8 |
maestro heat-like repeat family member 8 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:153,329,832...153,399,364
Ensembl chr 3:153,333,219...153,398,789
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G |
Msh2 |
mutS homolog 2 |
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IEP |
protein:increased expression:hippocampus, neuron |
RGD |
PMID:10625070 |
RGD:2293528 |
NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
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G |
Mt-cyb |
mitochondrially encoded cytochrome b |
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IEP |
protein:decreased expression:mitochondrion, brain |
RGD |
PMID:15698621 |
RGD:2298956 |
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G |
Mt3 |
metallothionein 3 |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23266720, PMID:23266720 |
RGD:9685809 |
NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
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G |
Mtor |
mechanistic target of rapamycin kinase |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:27830187 PMID:28492532 |
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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 |
Mybl2 |
MYB proto-oncogene like 2 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:159,421,638...159,450,087
Ensembl chr 3:159,421,671...159,450,086
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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G |
Myl9 |
myosin light chain 9 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:152,857,573...152,863,961
Ensembl chr 3:152,857,592...152,863,960
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G |
Myocd |
myocardin |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25558065 |
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NCBI chr10:51,682,053...51,781,458
Ensembl chr10:51,683,540...51,778,986
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G |
Myrf |
myelin regulatory factor |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 1:226,260,558...226,292,650
Ensembl chr 1:226,260,558...226,292,480
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G |
Naa15 |
N(alpha)-acetyltransferase 15, NatA auxiliary subunit |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
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NCBI chr 2:140,471,437...140,534,259
Ensembl chr 2:140,471,690...140,534,259
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G |
Nalcn |
sodium leak channel, non-selective |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:26923739 |
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NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
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G |
Nbea |
neurobeachin |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 2:145,011,648...145,513,439
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G |
Ncaph2 |
non-SMC condensin II complex, subunit H2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:16326995 PMID:23643385 PMID:25741868 |
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NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
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G |
Ncf2 |
neutrophil cytosolic factor 2 |
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IDA |
protein:altered localization |
RGD |
PMID:15606902 |
RGD:2314448 |
NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
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G |
Ncoa3 |
nuclear receptor coactivator 3 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:162,692,176...162,788,582
Ensembl chr 3:162,692,185...162,787,548
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G |
Ncoa5 |
nuclear receptor coactivator 5 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,465,733...161,498,951
Ensembl chr 3:161,465,743...161,498,951
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G |
Ndrg3 |
NDRG family member 3 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:152,972,055...153,099,089
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G |
Necap1 |
NECAP endocytosis associated 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 4:155,709,712...155,724,801
Ensembl chr 4:155,709,613...155,724,790
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G |
Neurl1 |
neuralized E3 ubiquitin protein ligase 1 |
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IEP |
mRNA:decreased expression:brain |
RGD |
PMID:12213446 |
RGD:2302390 |
NCBI chr 1:266,953,006...267,038,879
Ensembl chr 1:266,952,561...267,038,883
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G |
Neurl2 |
neuralized E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,296,303...161,299,024
Ensembl chr 3:161,296,304...161,299,024
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G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:25741868 |
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NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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G |
Nfe2l2 |
nuclear factor, erythroid 2-like 2 |
treatment |
IDA ISO |
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RGD |
PMID:24333359, PMID:24333359 |
RGD:10412723, RGD:10412723 |
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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G |
Ngf |
nerve growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18815271 |
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NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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G |
Ngfr |
nerve growth factor receptor |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10436046, PMID:12873743 |
RGD:9743975 |
NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
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G |
Nhlrc1 |
NHL repeat containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:12958597 PMID:16529633 PMID:18414213 PMID:23806086 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572
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G |
Nnat |
neuronatin |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:154,043,873...154,046,334
Ensembl chr 3:154,043,873...154,046,330
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G |
Nos1 |
nitric oxide synthase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8749039 |
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NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19559095 |
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NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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G |
Notch3 |
notch receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
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G |
Npc1 |
NPC intracellular cholesterol transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
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G |
Nprl3 |
NPR3-like, GATOR1 complex subunit |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr10:15,620,824...15,661,332
Ensembl chr10:15,620,871...15,661,331
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G |
Npy |
neuropeptide Y |
treatment |
IEP ISO |
protein:decreased expression:hippocampus CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:15451008 PMID:16194568 PMID:18005069, PMID:21915341, PMID:19038255 |
RGD:10448927, RGD:10448944 |
NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
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G |
Npy1r |
neuropeptide Y receptor Y1 |
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IEP |
mRNA:decreased expression:brain |
RGD |
PMID:10521595 |
RGD:1642320 |
NCBI chr16:24,779,480...24,789,131
Ensembl chr16:24,779,477...24,788,740
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G |
Npy5r |
neuropeptide Y receptor Y5 |
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IMP |
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RGD |
PMID:9212103 |
RGD:1625496 |
NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
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IEP |
protein:increased activity:brain |
RGD |
PMID:14991562 |
RGD:5133254 |
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
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IEP |
protein:decreased expression:brain |
RGD |
PMID:20113635 |
RGD:4892123 |
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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G |
Nrg1 |
neuregulin 1 |
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IEP |
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RGD |
PMID:22158510 |
RGD:10449024 |
NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
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G |
Nrgn |
neurogranin |
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IEP |
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RGD |
PMID:11054811 |
RGD:9685329 |
NCBI chr 8:40,015,049...40,023,193
Ensembl chr 8:40,015,049...40,023,193
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G |
Nrp2 |
neuropilin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18657176 |
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NCBI chr 9:69,496,875...69,609,802
Ensembl chr 9:69,497,121...69,612,087
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,933,118...152,964,399
Ensembl chr X:152,933,069...152,964,390
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G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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G |
Nup133 |
nucleoporin 133 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372
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G |
Nus1 |
NUS1 dehydrodolichyl diphosphate synthase subunit |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010
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G |
Ocstamp |
osteoclast stimulatory transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:162,073,573...162,080,487
Ensembl chr 3:162,075,340...162,080,192
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G |
Olfm3 |
olfactomedin 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 2:217,779,983...218,005,710
Ensembl chr 2:217,963,456...218,005,509
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G |
Oprk1 |
opioid receptor, kappa 1 |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:1675896 PMID:18042875 |
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NCBI chr 5:13,742,655...13,760,460
Ensembl chr 5:13,744,658...13,760,305
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G |
Oprm1 |
opioid receptor, mu 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1675896 PMID:18042875 |
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NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
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G |
Oser1 |
oxidative stress responsive serine-rich 1 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:159,784,131...159,802,923
Ensembl chr 3:159,784,128...159,802,952
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G |
Otog |
otogelin |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:10655058 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29907799 |
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NCBI chr 1:102,258,124...102,327,201
Ensembl chr 1:102,258,124...102,327,201
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G |
Oxr1 |
oxidation resistance 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:31785787 |
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NCBI chr 7:80,351,774...80,788,094
Ensembl chr 7:80,351,774...80,788,094
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G |
Oxt |
oxytocin/neurophysin I prepropeptide |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:292422 PMID:644406 PMID:3923190 PMID:5067144 PMID:5493616 PMID:19397503 |
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NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
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G |
P2ry4 |
pyrimidinergic receptor P2Y4 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr X:70,421,599...70,447,109
Ensembl chr X:70,426,951...70,428,364
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G |
Pabpc1l |
poly(A) binding protein, cytoplasmic 1-like |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,410,733...160,447,073
Ensembl chr 3:160,410,757...160,444,940
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G |
Pacs2 |
phosphofurin acidic cluster sorting protein 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 6:137,824,136...137,889,144
Ensembl chr 6:137,824,213...137,887,418
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G |
Pafah1b1 |
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 |
disease_progression |
IEP |
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RGD |
PMID:10398295 |
RGD:12790965 |
NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
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G |
Pam |
peptidylglycine alpha-amidating monooxygenase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19815072 |
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NCBI chr 9:111,028,543...111,177,588
Ensembl chr 9:111,028,575...111,177,602
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G |
Pawr |
pro-apoptotic WT1 regulator |
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IEP |
protein:increased expression:hippocampus: |
RGD |
PMID:10349840 |
RGD:9835366 |
NCBI chr 7:51,273,764...51,353,700
Ensembl chr 7:51,273,771...51,353,068
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G |
Pax2 |
paired box 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 1:264,493,579...264,585,073
Ensembl chr 1:264,504,591...264,583,329
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G |
Pcdh19 |
protocadherin 19 |
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ISO |
ClinVar Annotator: match by term: Seizures, tonic-clonic |
ClinVar |
PMID:25741868 |
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NCBI chr X:104,387,346...104,493,914
Ensembl chr X:104,391,607...104,493,757
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G |
Pcdhb5 |
protocadherin beta 5 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25558065 |
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NCBI chr18:30,398,113...30,400,695
Ensembl chr18:30,398,113...30,400,695
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G |
Pcif1 |
phosphorylated CTD interacting factor 1 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,343,883...161,356,815
Ensembl chr 3:161,343,883...161,356,815
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G |
Pclo |
piccolo (presynaptic cytomatrix protein) |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25074461 |
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NCBI chr 4:16,454,904...17,058,921
Ensembl chr 4:16,454,904...17,058,921
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G |
Pcsk1 |
proprotein convertase subtilisin/kexin type 1 |
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IEP |
mRNA:increased expression:dentate gyrus granule cell layer (rat) |
RGD |
PMID:9015327 |
RGD:2308918 |
NCBI chr 2:91,450,162...91,497,091
Ensembl chr 2:91,450,162...91,497,091
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G |
Pde4a |
phosphodiesterase 4A |
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IEP |
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RGD |
PMID:16190900 |
RGD:2302430 |
NCBI chr 8:22,189,533...22,234,036
Ensembl chr 8:22,189,600...22,233,748
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G |
Pdgfb |
platelet derived growth factor subunit B |
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IMP |
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RGD |
PMID:14980813 |
RGD:1581758 |
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr X:37,329,779...37,343,410
Ensembl chr X:37,329,779...37,343,410
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G |
Pdhb |
pyruvate dehydrogenase E1 subunit beta |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
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G |
Pdyn |
prodynorphin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1675896 |
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NCBI chr 3:122,194,327...122,206,671
Ensembl chr 3:122,194,329...122,206,671
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G |
Pdzd11 |
PDZ domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr X:70,458,601...70,461,635
Ensembl chr X:70,458,603...70,461,635
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G |
Phgdh |
phosphoglycerate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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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 |
Pigg |
phosphatidylinositol glycan anchor biosynthesis, class G |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr14:2,410,339...2,438,630
Ensembl chr14:2,410,342...2,438,592
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G |
Pigm |
phosphatidylinositol glycan anchor biosynthesis, class M |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16767100 |
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NCBI chr13:90,759,260...90,762,957
Ensembl chr13:90,759,260...90,762,957
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G |
Pign |
phosphatidylinositol glycan anchor biosynthesis, class N |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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 |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
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G |
Pigp |
phosphatidylinositol glycan anchor biosynthesis, class P |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr11:34,592,128...34,598,253
Ensembl chr11:34,592,121...34,598,275
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G |
Pigt |
phosphatidylinositol glycan anchor biosynthesis, class T |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
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 |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
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G |
Pkib |
cAMP-dependent protein kinase inhibitor beta |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:40,616,868...40,712,598
Ensembl chr20:40,618,128...40,712,592
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G |
Pkig |
cAMP-dependent protein kinase inhibitor gamma |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,047,257...160,115,180
Ensembl chr 3:160,047,296...160,115,177
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G |
Plau |
plasminogen activator, urokinase |
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ISO |
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RGD |
PMID:22293605 |
RGD:6483790 |
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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G |
Plcb1 |
phospholipase C beta 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:18414213 PMID:24747189 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
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G |
Plcg1 |
phospholipase C, gamma 1 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:156,727,642...156,758,307
Ensembl chr 3:156,727,642...156,758,307
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G |
Pld1 |
phospholipase D1 |
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IEP |
protein:increased expression:hippocampus |
RGD |
PMID:15330336 |
RGD:2299910 |
NCBI chr 2:113,651,967...113,849,403
Ensembl chr 2:113,652,348...113,849,403
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G |
Pld2 |
phospholipase D2 |
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IEP |
protein:increased expression:hippocampus |
RGD |
PMID:15330336 |
RGD:2299910 |
NCBI chr10:57,161,921...57,181,148
Ensembl chr10:57,163,174...57,179,730
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G |
Pln |
phospholamban |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
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G |
Plp1 |
proteolipid protein 1 |
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IAGP |
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RGD |
PMID:434110, PMID:2479544 |
RGD:1358782, RGD:1358781 |
NCBI chr X:107,494,326...107,511,355
Ensembl chr X:107,496,072...107,511,348
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G |
Plp1md |
proteolipid protein 1; Myelin-deficient |
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IAGP |
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RGD |
PMID:2479544 |
RGD:1358781 |
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G |
Plppr1 |
phospholipid phosphatase related 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23266720 |
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NCBI chr 5:67,852,817...67,985,310
Ensembl chr 5:67,852,180...68,139,199
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G |
Pltp |
phospholipid transfer protein |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,304,469...161,322,289
Ensembl chr 3:161,304,469...161,322,289
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G |
Plxna1 |
plexin A1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 4:121,217,658...121,262,697
Ensembl chr 4:121,217,629...121,257,885
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Seizures |
CTD ClinVar |
PMID:20118933 |
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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 |
Pnpo |
pyridoxamine 5'-phosphate oxidase |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25741868 PMID:25762494 PMID:26467025 PMID:28492532 |
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NCBI chr10:84,874,926...84,881,190
Ensembl chr10:84,874,927...84,881,190
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Seizures |
CTD ClinVar |
PMID:632821 PMID:11431686 PMID:11571332 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16715201 PMID:16929381 PMID:16940310 PMID:16943369 PMID:17088268 PMID:17280874 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17538929 PMID:17846414 PMID:17894835 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19307547 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20446108 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21276947 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22931735 PMID:22933815 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23077218 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23448099 PMID:23545419 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25118206 PMID:25193669 PMID:25281868 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25850945 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27422324 PMID:27538604 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27843123 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29272804 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29574624 PMID:29588995 PMID:29712893 PMID:29920680 PMID:29992832 PMID:30021052 PMID:30255931 PMID:30373890 PMID:30404819 PMID:30637288 PMID:30843307 PMID:30951992 PMID:31571979 PMID:31655921 PMID:31658717 PMID:31669236 PMID:32019516 PMID:32234506 PMID:32348839 PMID:32502631 |
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NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
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Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:1656808 PMID:2169275 PMID:2554740 PMID:2821097 PMID:6324019 PMID:7127082 |
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NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Pomt1 |
protein-O-mannosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
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Ppp1r16b |
protein phosphatase 1, regulatory subunit 16B |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:155,160,474...155,267,002
Ensembl chr 3:155,160,481...155,262,941
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Ppp1r9a |
protein phosphatase 1, regulatory subunit 9A |
susceptibility |
ISO |
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RGD |
PMID:22357852 |
RGD:10043800 |
NCBI chr 4:29,976,485...30,247,371
Ensembl chr 4:29,978,739...30,241,911
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Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25262651 PMID:25741868 PMID:28942967 PMID:29432562 |
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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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Ppt1 |
palmitoyl-protein thioesterase 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
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Prickle1 |
prickle planar cell polarity protein 1 |
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IEP ISO |
protein:increased expression:hippocampus: ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611, PMID:21905079 |
RGD:9686146 |
NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
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Prickle2 |
prickle planar cell polarity protein 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176
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Prkcd |
protein kinase C, delta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25895139 |
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NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
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Prokr2 |
prokineticin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:17054399 PMID:18826963 PMID:20022991 PMID:21247312 PMID:21858136 PMID:22319038 PMID:22399515 PMID:22745195 PMID:23386640 PMID:23596439 PMID:24830383 PMID:25759380 |
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NCBI chr 3:125,006,180...125,021,020
Ensembl chr 3:125,009,260...125,017,377
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Prrt2 |
proline-rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Seizures ClinVar Annotator: match by term: Focal seizures |
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:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24661410 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:26467025 PMID:26598493 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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Psph |
phosphoserine phosphatase |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr12:30,514,128...30,526,551
Ensembl chr12:30,514,112...30,526,557
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Pten |
phosphatase and tensin homolog |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25669429 PMID:25741868 PMID:27535533, PMID:11726926 |
RGD:1302554 |
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14518562, PMID:17827730 |
RGD:1642596 |
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Ptn |
pleiotrophin |
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IEP |
mRNA:increased expression:hippocampus, piriform cortex (rat) |
RGD |
PMID:8453763 |
RGD:9831456 |
NCBI chr 4:64,239,156...64,330,996
Ensembl chr 4:64,239,158...64,330,996
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Ptprt |
protein tyrosine phosphatase, receptor type, T |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:157,537,192...158,328,984
Ensembl chr 3:157,544,583...158,328,881
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Ptprz1 |
protein tyrosine phosphatase, receptor type Z1 |
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IEP |
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RGD |
PMID:14637091 |
RGD:9589824 |
NCBI chr 4:49,941,046...50,140,764
Ensembl chr 4:49,941,304...50,140,762
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Pts |
6-pyruvoyl-tetrahydropterin synthase |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 8:54,954,261...54,961,271
Ensembl chr 8:54,954,226...54,961,265
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Pum1 |
pumilio RNA-binding family member 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 5:148,781,239...148,911,776
Ensembl chr 5:148,781,222...148,911,803
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Pvalb |
parvalbumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18495095 |
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NCBI chr 7:119,428,657...119,443,674
Ensembl chr 7:119,429,019...119,441,487
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Qars1 |
glutaminyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 8:117,297,670...117,305,708
Ensembl chr 8:117,297,670...117,305,702
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R3hdml |
R3H domain containing-like |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:159,886,248...159,898,024
Ensembl chr 3:159,887,036...159,897,805
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Rab5if |
RAB5 interacting factor |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:152,933,771...152,943,780
Ensembl chr 3:152,933,771...152,943,777
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Ralgapb |
Ral GTPase activating protein non-catalytic subunit beta |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:154,910,291...154,983,021
Ensembl chr 3:154,905,141...154,983,021
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Rars2 |
arginyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424
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Rbfox1 |
RNA binding fox-1 homolog 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21623373 |
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NCBI chr10:8,312,961...10,437,778
Ensembl chr10:8,312,961...8,654,892
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Rbl1 |
RB transcriptional corepressor like 1 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:153,263,692...153,321,351
Ensembl chr 3:153,263,692...153,321,352
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Rbpjl |
recombination signal binding protein for immunoglobulin kappa J region-like |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,851,836...160,865,125
Ensembl chr 3:160,852,164...160,864,534
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Recql |
RecQ like helicase |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr 4:176,581,892...176,606,520
Ensembl chr 4:176,581,897...176,606,382
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Reg3b |
regenerating family member 3 beta |
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IEP |
mRNA:increased expression:hippocampus, hippocampal region (rat) |
RGD |
PMID:21093549 |
RGD:9831382 |
NCBI chr 4:109,467,272...109,470,510
Ensembl chr 4:109,467,272...109,470,510
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Reln |
reelin |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
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Rest |
RE1-silencing transcription factor |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21905079 |
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NCBI chr14:33,131,985...33,152,019
Ensembl chr14:33,134,511...33,164,141
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Rfx6 |
regulatory factor X, 6 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:32,709,282...32,764,040
Ensembl chr20:32,717,564...32,764,035
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RGD1563354 |
similar to hypothetical protein D630003M21 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:154,682,369...154,716,261
Ensembl chr 3:154,682,282...154,716,239
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RGD1564308 |
similar to LOC495042 protein |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:33473208 |
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NCBI chr16:49,485,022...49,509,756
Ensembl chr16:49,485,256...49,509,767
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Rhobtb2 |
Rho-related BTB domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr15:51,465,148...51,485,562
Ensembl chr15:51,465,148...51,485,692
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Rims4 |
regulating synaptic membrane exocytosis 4 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,237,659...160,301,792
Ensembl chr 3:160,241,619...160,301,552
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Ripply3 |
ripply transcriptional repressor 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr11:34,557,679...34,565,776
Ensembl chr11:34,557,679...34,565,776
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Rnpc3 |
RNA-binding region (RNP1, RRM) containing 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 2:216,481,457...216,510,051
Ensembl chr 2:216,481,436...216,509,827
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Rogdi |
rogdi atypical leucine zipper |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,761,477...10,766,096
Ensembl chr10:10,761,477...10,766,095
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Rorb |
RAR-related orphan receptor B |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 1:234,252,757...234,442,597
Ensembl chr 1:234,252,757...234,435,839
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Ros1 |
ROS proto-oncogene 1 , receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:33,100,190...33,323,544
Ensembl chr20:33,100,191...33,323,367
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Rpn2 |
ribophorin II |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:153,398,373...153,445,633
Ensembl chr 3:153,398,130...153,445,632
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Rprd1b |
regulation of nuclear pre-mRNA domain containing 1B |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:154,507,029...154,553,312
Ensembl chr 3:154,507,035...154,553,312
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Rrm1 |
ribonucleotide reductase catalytic subunit M1 |
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IEP |
protein:increased expression:dentate gyrus (rat) |
RGD |
PMID:15725396 |
RGD:5133692 |
NCBI chr 1:167,538,387...167,562,688
Ensembl chr 1:167,538,263...167,562,688
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Rsph4a |
radial spoke head component 4A |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194 Ensembl chr20:32,450,733...32,467,194
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Rtn4 |
reticulon 4 |
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IEP |
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RGD |
PMID:17439704 |
RGD:2314957 |
NCBI chr14:114,126,931...114,174,459
Ensembl chr14:114,126,943...114,174,458
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Rwdd1 |
RWD domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:27,534,361...27,552,225
Ensembl chr20:27,535,324...27,552,349
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Ryr3 |
ryanodine receptor 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 3:104,117,307...104,665,151
Ensembl chr 3:104,118,063...104,504,204
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S100b |
S100 calcium binding protein B |
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IEP |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:15464860 |
RGD:5509052 |
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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S1pr1 |
sphingosine-1-phosphate receptor 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 2:218,654,406...218,658,761
Ensembl chr 2:218,654,554...218,658,761
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Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
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Scarb2 |
scavenger receptor class B, member 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:18308289 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28222800 PMID:28492532 PMID:29261713 PMID:29358611 |
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NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963
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Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Seizure ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:11254445 PMID:12566275 PMID:14738421 PMID:15277629 PMID:15508916 PMID:16713913 PMID:16713920 PMID:17054684 PMID:17166794 PMID:17347258 PMID:17561957 PMID:18021921 PMID:18804930 PMID:18930999 PMID:19585586 PMID:19589774 PMID:20431604 PMID:20550552 PMID:21371021 PMID:21396429 PMID:21864321 PMID:21868258 PMID:22550089 PMID:22780858 PMID:22848613 PMID:23195492 PMID:23398611 PMID:23934111 PMID:25348405 PMID:25741868 PMID:26096185 PMID:26467025 PMID:26990884 PMID:27781031 PMID:28492532 PMID:29358611 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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Scn1b |
sodium voltage-gated channel beta subunit 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 PMID:11263970 PMID:11866477 PMID:12011299 PMID:12486163 PMID:14504340 PMID:14690046 PMID:15671291 PMID:15710580 PMID:15857929 PMID:16205844 PMID:17020904 PMID:17928445 PMID:18941776 PMID:19522081 PMID:20226894 PMID:20437590 PMID:20628201 PMID:20662403 PMID:21994374 PMID:22292491 PMID:22425777 PMID:23527921 PMID:23584539 PMID:23861362 PMID:24065921 PMID:24529773 PMID:24567321 PMID:24605816 PMID:24623842 PMID:24662403 PMID:24747835 PMID:25253298 PMID:25668026 PMID:25741868 PMID:25827112 PMID:26042039 PMID:26467025 PMID:27207958 PMID:27216889 PMID:27277800 PMID:28331474 PMID:28492532 PMID:28837624 PMID:206282012 |
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NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
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Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:18414213 PMID:25741868 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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Scn2b |
sodium voltage-gated channel beta subunit 2 |
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IDA |
Scn2b mRNA levels in hippocampus respond to intraperitoneal kainate, which produces seizures |
RGD |
PMID:9672387 |
RGD:2317305 |
NCBI chr 8:49,419,003...49,431,110
Ensembl chr 8:49,418,965...49,427,689
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Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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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Scn4a |
sodium voltage-gated channel alpha subunit 4 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:1338909 PMID:7809121 PMID:11723275 PMID:20076800 PMID:22926674 PMID:25741868 PMID:26467025 PMID:28330959 PMID:28492532 |
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NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Seizures, tonic-clonic |
ClinVar |
PMID:25741868 PMID:26993267 PMID:28492532 PMID:29432985 PMID:32581362 |
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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 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:19763161 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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Sdc4 |
syndecan 4 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,872,503...160,891,190
Ensembl chr 3:160,872,503...160,891,190
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Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 3:3,856,218...3,890,785
Ensembl chr 3:3,856,218...3,890,758
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Sec24d |
SEC24 homolog D, COPII coat complex component |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25558065 |
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NCBI chr 2:227,455,704...227,562,801
Ensembl chr 2:227,455,722...227,562,319
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G |
Sema3a |
semaphorin 3A |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25074461 |
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NCBI chr 4:18,170,375...18,545,190
Ensembl chr 4:18,178,656...18,396,035
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G |
Sema3c |
semaphorin 3C |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25074461 |
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NCBI chr 4:14,318,276...14,490,438
Ensembl chr 4:14,318,274...14,490,446
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G |
Sema3d |
semaphorin 3D |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25074461 |
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NCBI chr 4:19,224,378...19,413,519
Ensembl chr 4:19,224,310...19,413,484
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G |
Sema3e |
semaphorin 3E |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25074461 |
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NCBI chr 4:17,314,745...17,594,659
Ensembl chr 4:17,272,511...17,594,598
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G |
Semg1 |
semenogelin 1 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,627,609...160,630,457
Ensembl chr 3:160,627,610...160,630,457
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G |
Serac1 |
serine active site containing 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261
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Serinc1 |
serine incorporator 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:38,966,016...38,985,056
Ensembl chr20:38,967,238...38,985,036
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G |
Serinc3 |
serine incorporator 3 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,018,643...160,038,078
Ensembl chr 3:160,018,646...160,038,078
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G |
Setbp1 |
SET binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
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Setd1a |
SET domain containing 1A, histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 1:199,222,584...199,247,993
Ensembl chr 1:199,225,100...199,247,988
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Setd2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
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G |
Sgk2 |
serum/glucocorticoid regulated kinase 2 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:159,361,313...159,385,843
Ensembl chr 3:159,368,273...159,384,775
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G |
Sh3gl2 |
SH3 domain containing GRB2 like 2, endophilin A1 |
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IEP |
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RGD |
PMID:14751282 |
RGD:13464355 |
NCBI chr 5:103,479,767...103,654,507
Ensembl chr 5:103,479,767...103,654,247
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Shank3 |
SH3 and multiple ankyrin repeat domains 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 7:130,474,278...130,534,679
Ensembl chr 7:130,474,279...130,534,679
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Sigmar1 |
sigma non-opioid intracellular receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11684152 |
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NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
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G |
Sik1 |
salt-inducible kinase 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:10,670,747...10,680,279
Ensembl chr20:10,668,411...10,680,283
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G |
Sim2 |
SIM bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr11:34,315,739...34,355,183
Ensembl chr11:34,316,295...34,354,027
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G |
Sla2 |
Src-like-adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:152,942,838...153,004,047
Ensembl chr 3:152,944,452...153,001,309
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Slc12a2 |
solute carrier family 12 member 2 |
treatment |
IMP |
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RGD |
PMID:16227993 |
RGD:1580584 |
NCBI chr18:52,917,124...52,985,281
Ensembl chr18:52,917,124...52,985,261
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G |
Slc12a5 |
solute carrier family 12 member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Focal seizures |
CTD ClinVar |
PMID:20086212 PMID:32581362 |
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NCBI chr 3:161,433,303...161,465,078
Ensembl chr 3:161,425,988...161,462,879
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G |
Slc13a3 |
solute carrier family 13 member 3 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:162,084,336...162,147,398
Ensembl chr 3:162,084,315...162,147,393
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G |
Slc13a5 |
solute carrier family 13 member 5 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:26467025 PMID:27600704 PMID:28492532 PMID:28673551 |
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NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
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G |
Slc17a7 |
solute carrier family 17 member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18495095 |
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NCBI chr 1:101,161,265...101,172,292
Ensembl chr 1:101,161,252...101,173,174
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G |
Slc19a1 |
solute carrier family 19 member 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
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G |
Slc19a3 |
solute carrier family 19 member 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,762,775...88,828,553
Ensembl chr 9:88,764,073...88,816,898
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G |
Slc1a1 |
solute carrier family 1 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23262392 |
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NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
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G |
Slc25a12 |
solute carrier family 25 member 12 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
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G |
Slc25a22 |
solute carrier family 25 member 22 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
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G |
Slc25a24 |
solute carrier family 25 member 24 |
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ISO |
ClinVar Annotator: match by term: Seizures, tonic-clonic |
ClinVar |
PMID:25741868 |
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NCBI chr 2:211,930,371...211,967,511
Ensembl chr 2:211,930,326...211,967,505
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G |
Slc2a1 |
solute carrier family 2 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9462754 PMID:10980529 PMID:11603379 |
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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 |
Slc2a10 |
solute carrier family 2 member 10 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
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G |
Slc30a1 |
solute carrier family 30 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23266720 |
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NCBI chr13:110,677,810...110,681,683
Ensembl chr13:110,677,810...110,681,683
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G |
Slc30a7 |
solute carrier family 30 member 7 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 2:218,888,431...218,951,030
Ensembl chr 2:218,888,431...218,951,030
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G |
Slc32a1 |
solute carrier family 32 member 1 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:155,102,980...155,107,815
Ensembl chr 3:155,103,150...155,107,817
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G |
Slc35c2 |
solute carrier family 35 member C2 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,801,194...161,812,318
Ensembl chr 3:161,801,197...161,812,291
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G |
Slc35f1 |
solute carrier family 35, member F1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:33,772,314...34,420,970
Ensembl chr20:34,258,791...34,420,824
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G |
Slc38a1 |
solute carrier family 38, member 1 |
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IEP |
mRNA:increased expression:hippocampus |
RGD |
PMID:21138736 |
RGD:9999229 |
NCBI chr 7:137,970,555...138,040,098
Ensembl chr 7:137,975,549...138,039,984
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G |
Slc38a2 |
solute carrier family 38, member 2 |
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IEP |
mRNA:increased expression:hippocampus |
RGD |
PMID:21138736 |
RGD:9999229 |
NCBI chr 7:138,088,654...138,100,869
Ensembl chr 7:138,088,649...138,100,841
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G |
Slc38a3 |
solute carrier family 38, member 3 |
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IEP |
mRNA:increased expression:hippocampus |
RGD |
PMID:21138736 |
RGD:9999229 |
NCBI chr 8:116,406,258...116,423,752
Ensembl chr 8:116,406,241...116,422,366
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G |
Slc45a1 |
solute carrier family 45, member 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 5:167,672,134...167,696,331
Ensembl chr 5:167,672,145...167,696,348
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G |
Slc6a1 |
solute carrier family 6 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Seizures |
CTD ClinVar |
PMID:11074187 PMID:28492532 PMID:32581362 |
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NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
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G |
Slc6a11 |
solute carrier family 6 member 11 |
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IEP |
protein:decreased expression:hippocampus |
RGD |
PMID:17408599 |
RGD:1643196 |
NCBI chr 4:146,106,386...146,223,228
Ensembl chr 4:146,106,386...146,223,228
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G |
Slc6a2 |
solute carrier family 6 member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15911120 |
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NCBI chr19:15,391,682...15,431,274
Ensembl chr19:15,391,581...15,431,274
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G |
Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr X:157,129,987...157,139,321
Ensembl chr X:157,129,987...157,139,291
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G |
Slc8a1 |
solute carrier family 8 member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20888801 |
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NCBI chr 6:4,244,076...4,564,262
Ensembl chr 6:4,258,991...4,520,604
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G |
Slc8a3 |
solute carrier family 8 member A3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20888801 |
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NCBI chr 6:104,889,500...105,099,408
Ensembl chr 6:104,891,376...105,097,054
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G |
Slpi |
secretory leukocyte peptidase inhibitor |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,799,979...160,802,228
Ensembl chr 3:160,799,981...160,802,433
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
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G |
Smo |
smoothened, frizzled class receptor |
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IEP |
mRNA:increased expression:dentate gyrus |
RGD |
PMID:16197497 |
RGD:2324992 |
NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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G |
Smpdl3a |
sphingomyelin phosphodiesterase, acid-like 3A |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:40,779,022...40,800,842
Ensembl chr20:40,778,927...40,800,868
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G |
Snap25 |
synaptosome associated protein 25 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
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G |
Snhg11 |
small nucleolar RNA host gene 11 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:154,862,717...154,870,691
Ensembl chr 3:154,863,072...154,869,460
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G |
Snx14 |
sorting nexin 14 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 8:96,018,943...96,088,405
Ensembl chr 8:96,023,445...96,088,405
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G |
Snx21 |
sorting nexin family member 21 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,252,634...161,261,880
Ensembl chr 3:161,252,723...161,264,818
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20446108 |
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NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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G |
Soga1 |
suppressor of glucose, autophagy associated 1 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:153,130,268...153,188,909
Ensembl chr 3:153,125,620...153,188,915
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G |
Spast |
spastin |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:16832076 PMID:25741868 PMID:26467025 |
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NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
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G |
Spata25 |
spermatogenesis associated 25 |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,292,170...161,294,125
Ensembl chr 3:161,292,173...161,294,125
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G |
Spata5 |
spermatogenesis associated 5 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 2:124,149,872...124,341,138
Ensembl chr 2:124,149,872...124,341,131
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G |
Spint3 |
serine peptidase inhibitor, Kunitz type, 3 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,024,739...161,028,927
Ensembl chr 3:161,025,491...161,027,943
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G |
Spint4 |
serine peptidase inhibitor, Kunitz type 4 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,160,920...161,165,386
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G |
Spp1 |
secreted phosphoprotein 1 |
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IDA |
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RGD |
PMID:12132583 |
RGD:1581327 |
NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
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G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Seizures, tonic-clonic |
ClinVar |
PMID:18414213 PMID:20228407 PMID:22258530 PMID:25224718 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28492532 PMID:29358611 |
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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 |
Src |
SRC proto-oncogene, non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642
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G |
Srebf2 |
sterol regulatory element binding transcription factor 2 |
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IEP |
mRNA, protein:decreased expression:brain |
RGD |
PMID:19124072 |
RGD:2308818 |
NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
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G |
Srsf6 |
serine and arginine rich splicing factor 6 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:159,305,345...159,310,668
Ensembl chr 3:159,305,345...159,310,668
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G |
Sst |
somatostatin |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:7913897 PMID:16771832 PMID:20134357 |
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NCBI chr11:80,358,172...80,359,449
Ensembl chr11:80,358,211...80,359,444
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G |
Sstr2 |
somatostatin receptor 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16771832 |
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NCBI chr10:102,136,283...102,143,449
Ensembl chr10:102,136,283...102,143,434
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G |
St3gal5 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 5 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:28492532 |
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NCBI chr 4:99,937,499...99,999,905
Ensembl chr 4:99,937,558...99,999,902
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G |
Stk4 |
serine/threonine kinase 4 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,467,552...160,546,540
Ensembl chr 3:160,467,552...160,546,540
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G |
Stx1b |
syntaxin 1B |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr 1:199,251,842...199,270,465
Ensembl chr 1:199,251,844...199,270,627
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G |
Stxbp1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:24189369 PMID:25418441 PMID:25741868 PMID:28133863 PMID:28492532 |
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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 |
Styxl1 |
serine/threonine/tyrosine interacting-like 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr12:23,954,563...23,987,155
Ensembl chr12:23,954,574...23,987,271
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G |
Sulf2 |
sulfatase 2 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:162,791,349...162,872,984
Ensembl chr 3:162,791,355...162,872,831
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G |
Syn1 |
synapsin I |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr X:1,321,315...1,379,202
Ensembl chr X:1,321,315...1,379,198
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G |
Syn2 |
synapsin II |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18701217 |
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NCBI chr 4:147,037,179...147,195,096
Ensembl chr 4:147,037,179...147,195,096
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G |
Syngap1 |
synaptic Ras GTPase activating protein 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
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G |
Sys1 |
Sys1 golgi trafficking protein |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,908,779...160,913,281
Ensembl chr 3:160,908,769...160,912,507
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G |
Syt1 |
synaptotagmin 1 |
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IEP |
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RGD |
PMID:8872307 |
RGD:730127 |
NCBI chr 7:50,084,063...50,638,996
Ensembl chr 7:50,084,060...50,638,798
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G |
Syt10 |
synaptotagmin 10 |
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IEP |
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RGD |
PMID:9122248 |
RGD:61761 |
NCBI chr 7:130,769,039...130,827,030
Ensembl chr 7:130,768,841...130,827,152
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G |
Syt4 |
synaptotagmin 4 |
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IEP |
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RGD |
PMID:8872307 |
RGD:730127 |
NCBI chr18:24,172,580...24,181,989
Ensembl chr18:24,172,587...24,182,012
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G |
Szt2 |
SZT2 subunit of KICSTOR complex |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28491533 PMID:28492532 PMID:28556953 PMID:29358611 |
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NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
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G |
Tacr3 |
tachykinin receptor 3 |
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IEP |
mRNA:altered expression:brain |
RGD |
PMID:7898759 |
RGD:2305980 |
NCBI chr 2:240,021,152...240,118,971
Ensembl chr 2:240,021,152...240,118,971
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G |
Tango2 |
transport and golgi organization 2 homolog |
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ISO |
ClinVar Annotator: match by term: Seizure |
ClinVar |
PMID:25741868 PMID:26805781 PMID:29369572 |
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NCBI chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
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ISO |
DNA:mutation:cds:c.751T>C(p.F251L)(human) ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:10574461 PMID:18414213 PMID:22277662 PMID:24033266 PMID:24291220 PMID:24387994 PMID:24848745 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:29358611 PMID:29671961 PMID:30311386, PMID:20797691 |
RGD:11537393 |
NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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G |
Tbc1d32 |
TBC1 domain family, member 32 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:37,463,879...37,701,268
Ensembl chr20:37,465,278...37,700,937
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G |
Tbcd |
tubulin folding cofactor D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27666370 |
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NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
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G |
Tbl1xr1 |
TBL1X receptor 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:107,221,913...107,359,229
Ensembl chr 2:107,233,054...107,359,229
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G |
Tbr1 |
T-box brain transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr 3:47,677,720...47,685,902
Ensembl chr 3:47,677,720...47,685,902
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G |
Tbx1 |
T-box transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
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G |
Tcf4 |
transcription factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18728071 |
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NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
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G |
Tgif2 |
TGFB-induced factor homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:152,906,961...152,924,380
Ensembl chr 3:152,909,189...152,924,377
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G |
Tgm2 |
transglutaminase 2 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:154,597,165...154,627,257
Ensembl chr 3:154,597,168...154,627,257
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G |
Tldc2 |
TBC/LysM-associated domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:153,195,295...153,208,118
Ensembl chr 3:153,197,644...153,207,816
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G |
Tnf |
tumor necrosis factor |
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IDA |
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RGD |
PMID:23333565 |
RGD:7245573 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Tnfrsf13b |
TNF receptor superfamily member 13B |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:17464555 PMID:20652909 PMID:25741868 PMID:28492532 |
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NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
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IDA |
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RGD |
PMID:23333565 |
RGD:7245573 |
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
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IDA |
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RGD |
PMID:23333565 |
RGD:7245573 |
NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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G |
Tnnc2 |
troponin C2, fast skeletal type |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,243,607...161,246,335
Ensembl chr 3:161,243,587...161,246,351
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G |
Tomm34 |
translocase of outer mitochondrial membrane 34 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,448,294...160,465,143
Ensembl chr 3:160,448,298...160,465,143
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G |
Top1 |
DNA topoisomerase I |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:156,635,688...156,717,686
Ensembl chr 3:156,642,464...156,717,686
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G |
Tox2 |
TOX high mobility group box family member 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:159,569,329...159,694,756
Ensembl chr 3:159,569,363...159,694,756
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G |
Tp53rk |
TP53 regulating kinase |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596
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G |
Tp53tg5 |
TP53 target 5 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:160,916,453...160,922,744
Ensembl chr 3:160,919,345...160,922,341
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G |
Tpp1 |
tripeptidyl peptidase 1 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:10330339 PMID:18414213 PMID:19038966 PMID:21990111 PMID:22752289 PMID:22832778 PMID:23266810 PMID:24033266 PMID:24091540 PMID:24767253 PMID:25741868 PMID:26467025 PMID:27776828 PMID:28492532 PMID:28717666 |
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NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
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G |
Trappc3l |
trafficking protein particle complex subunit 3L |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:27,578,268...27,664,689
Ensembl chr20:27,592,379...27,664,595
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G |
Trdn |
triadin |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 1:25,403,390...25,787,664
Ensembl chr 1:25,403,390...25,839,345
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G |
Trh |
thyrotropin releasing hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10443546 PMID:15781040 |
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NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
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G |
Trim8 |
tripartite motif-containing 8 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 1:266,255,797...266,270,694
Ensembl chr 1:266,255,797...266,270,694
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G |
Trio |
trio Rho guanine nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
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G |
Trpm3 |
transient receptor potential cation channel, subfamily M, member 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 1:239,741,572...240,757,583
Ensembl chr 1:240,355,149...240,757,583
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G |
Trpm4 |
transient receptor potential cation channel, subfamily M, member 4 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
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G |
Tsc1 |
TSC complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Seizures |
CTD ClinVar |
PMID:9242607 PMID:9328481 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10227394 PMID:10363127 PMID:10533067 PMID:11112665 PMID:12015165 PMID:14756965 PMID:15798777 PMID:16981987 PMID:17304050 PMID:18032745 PMID:25741868 PMID:26467025 PMID:28215400 PMID:28492532 PMID:29286531 PMID:32238909 |
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NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Seizures |
CTD ClinVar |
PMID:17304050 PMID:21062901 PMID:28215400 PMID:28492532 |
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NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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G |
Ttc3 |
tetratricopeptide repeat domain 3 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr11:34,598,324...34,739,986
Ensembl chr11:34,598,492...34,738,791
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G |
Tti1 |
TELO2 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:154,463,108...154,506,955
Ensembl chr 3:154,463,109...154,490,851
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G |
Ttpal |
alpha tocopherol transfer protein like |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:159,995,013...160,015,314
Ensembl chr 3:159,995,064...160,013,274
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G |
Tuba1a |
tubulin, alpha 1A |
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ISO |
associated with Lissencephaly;DNA:missense mutations:cds: |
RGD |
PMID:18954413 |
RGD:11067701 |
NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
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G |
Ube2c |
ubiquitin-conjugating enzyme E2C |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:161,236,971...161,239,371
Ensembl chr 3:161,236,898...161,241,159
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G |
Ufsp2 |
UFM1-specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:33473208 |
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NCBI chr16:49,465,958...49,484,975
Ensembl chr16:49,465,968...49,484,985
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G |
Usp9x |
ubiquitin specific peptidase 9, X-linked |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr X:10,510,033...10,660,555
Ensembl chr X:10,510,033...10,630,297
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G |
Vdac1 |
voltage-dependent anion channel 1 |
treatment |
IDA |
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RGD |
PMID:17893921 |
RGD:10003051 |
NCBI chr10:37,724,915...37,752,827
Ensembl chr10:37,724,915...37,752,826
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G |
Vdac2 |
voltage-dependent anion channel 2 |
treatment |
IDA |
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RGD |
PMID:17893921 |
RGD:10003051 |
NCBI chr15:2,634,622...2,648,548
Ensembl chr15:2,634,624...2,648,551
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G |
Vgll2 |
vestigial-like family member 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr20:33,077,106...33,082,962
Ensembl chr20:33,077,106...33,082,962
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G |
Vip |
vasoactive intestinal peptide |
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IEP |
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RGD |
PMID:20369387 |
RGD:5685634 |
NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
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G |
Vps26c |
VPS26 endosomal protein sorting factor C |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr11:34,764,053...34,792,446
Ensembl chr11:34,764,721...34,791,993
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G |
Vrk2 |
VRK serine/threonine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr14:110,739,835...110,883,836
Ensembl chr14:110,739,226...110,883,803
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G |
Vstm2l |
V-set and transmembrane domain containing 2 like |
|
ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
PMID:32581362 |
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NCBI chr 3:154,395,014...154,424,482
Ensembl chr 3:154,395,187...154,424,625
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G |
Vtn |
vitronectin |
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IEP |
|
RGD |
PMID:8721676 |
RGD:10003102 |
NCBI chr10:65,767,960...65,771,040
Ensembl chr10:65,767,053...65,771,038
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G |
Wdr26 |
WD repeat domain 26 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr13:99,493,117...99,532,775
Ensembl chr13:99,493,120...99,531,959
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G |
Wdr62 |
WD repeat domain 62 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVar |
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NCBI chr 1:90,995,545...91,034,592
Ensembl chr 1:88,694,824...88,734,223
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G |
Wdr73 |
WD repeat domain 73 |
|
ISO |
ClinVar Annotator: match by term: Seizures |
ClinVa | |