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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:visual epilepsy
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Accession:DOID:11832 term browser browse the term
Definition:Visual seizures mainly present as epileptic auras, but can be simple hallucinations related with an occipital origin, or complex hallucinations associated with more anterior regions of the brain. The appearance of lateralised visual phenomena suggests an origin located in the contralateral hemisphere.
Synonyms:exact_synonym: COVE;   Childhood occipital visual epilepsy;   Gastaut syndrome;   Sensory Seizure;   Sensory Seizures;   Somatosensory Seizure;   Somatosensory Seizures;   Visual Seizure;   idiopathic childhood occipital epilepsy–Gastaut type;   late onset benign occipital epilepsy;   visual seizures
 xref: NCI:C3980
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
visual epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase treatment ISO RGD PMID:20109543 PMID:21935729 PMID:2753001 RGD:9588535, RGD:10047087, RGD:10047056 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575 		JBrowse link
G ABCB1 ATP binding cassette subfamily B member 1 ISO Audiogenic Seizures;mRNA:increased expression:cerebral cortex, midbrain (rat) RGD PMID:12423380 RGD:8657333 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 treatment ISO RGD PMID:12663688 RGD:704399 NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594 		JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 ISO mRNA, protein:altered expression:dentate gyrus RGD PMID:18021373 RGD:2301911 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ACP2 acid phosphatase 2, lysosomal ISO RGD PMID:9228031 RGD:1300245 NCBI chr11:47,239,302...47,248,814
Ensembl chr11:47,239,302...47,248,906 		JBrowse link
G ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 ISO mRNA:increased expression:hippocampus, temporal lobe RGD PMID:12379262 RGD:1566572 NCBI chr21:26,835,755...26,845,409
Ensembl chr21:26,835,755...26,845,409 		JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO RGD PMID:10894545 RGD:1300255 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO associated with metabolic syndrome X; RGD PMID:21976521 RGD:5686407 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G AIF1 allograft inflammatory factor 1 ISO protein:increased expression:brain (rat) RGD PMID:16635480 RGD:2313039 NCBI chr 6:31,615,234...31,617,015
Ensembl chr 6:31,615,217...31,617,021 		JBrowse link
G ALAD aminolevulinate dehydratase ISO protein:decreased activity:brain, liver (rat) RGD PMID:17320826 RGD:4144168 NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator ISO RGD PMID:12861042 RGD:634632 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G APAF1 apoptotic peptidase activating factor 1 ISO protein:increased activity:hippocampus RGD PMID:11753565 RGD:2325750 NCBI chr12:98,645,290...98,735,433
Ensembl chr12:98,645,290...98,735,433 		JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO protein:increased expression:neuron RGD PMID:15854596 RGD:2302852 NCBI chr14:20,455,226...20,457,767
Ensembl chr14:20,455,191...20,457,772 		JBrowse link
G APP amyloid beta precursor protein IMP associated with Alzheimer Disease; RGD PMID:25879152 RGD:10054263 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128 		JBrowse link
G ARC activity regulated cytoskeleton associated protein ISO RGD PMID:23744421 RGD:10395306 NCBI chr 8:142,611,049...142,614,479
Ensembl chr 8:142,611,049...142,614,479 		JBrowse link
G ASPM assembly factor for spindle microtubules susceptibility IAGP RGD PMID:16141009 RGD:1599300 NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694 		JBrowse link
G BAD BCL2 associated agonist of cell death ISO protein:decreased phosphorylation:hippocampus RGD PMID:15968425 RGD:2292693 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704 		JBrowse link
G BAG3 BAG cochaperone 3 ISO protein:increased expression:hippocampus, astrocyte RGD PMID:12085992 RGD:2325847 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G BEX3 brain expressed X-linked 3 treatment ISO RGD PMID:12873743 RGD:9743975 NCBI chr  X:103,376,323...103,378,164
Ensembl chr  X:103,376,395...103,378,164 		JBrowse link
G BRD1 bromodomain containing 1 ISO RGD PMID:22675730 RGD:9586108 NCBI chr22:49,773,278...49,827,873
Ensembl chr22:49,773,283...49,827,873 		JBrowse link
G C7 complement C7 ISO Protein:increased activity:brain RGD PMID:12574424 RGD:1599523 NCBI chr 5:40,909,497...40,984,643
Ensembl chr 5:40,909,492...41,020,216 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO RGD PMID:9060410 RGD:10054423 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025 		JBrowse link
G CASP1 caspase 1 ISO RGD PMID:16886979 RGD:2315919 NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased expression:hippocampus, vasculature (rat) RGD PMID:20940264 RGD:4889880 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793 		JBrowse link
G CCNB1 cyclin B1 ISO protein:increased expression:hippocampus CA1, neuron RGD PMID:16242239 RGD:2315994 NCBI chr 5:69,167,150...69,178,245
Ensembl chr 5:69,167,135...69,178,245 		JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:hippocampus, cerebral cortex RGD PMID:16696308 RGD:2289147 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO RGD PMID:20940264 RGD:4889880 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP DNA:deletion, missense, nonsense mutations:cds: RGD PMID:22264704 RGD:12791013 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit ISO RGD PMID:15469883 RGD:1599607 NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295 		JBrowse link
G CIT citron rho-interacting serine/threonine kinase ISO RGD PMID:11086988 PMID:10219263 RGD:734780, RGD:13204836 NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320 		JBrowse link
G CNTNAP2 contactin associated protein 2 ISO
IAGP		 DNA:deletions: RGD PMID:28364455 PMID:19896112 PMID:28364455 RGD:12880397, RGD:13450912, RGD:12880397 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G CPLX1 complexin 1 ISO RGD PMID:11163241 RGD:734813 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CSTB cystatin B ISO mRNA, protein:increased expression:brain RGD PMID:10792446 RGD:729930 NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330 		JBrowse link
G CTSS cathepsin S ISO protein:increased expression:hippocampus CA1, microglial cell RGD PMID:17997037 RGD:5686910 NCBI chr 1:150,730,188...150,765,778
Ensembl chr 1:150,730,079...150,765,957 		JBrowse link
G DCX doublecortin onset ISO associated with Subcortical Band Heterotopia, X-Linked RGD PMID:18575605 PMID:20164125 RGD:12904723, RGD:12904732 NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 ISO RGD PMID:17437412 RGD:6907384 NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042 		JBrowse link
G DRD3 dopamine receptor D3 ISO mRNA, increased expression:accumbens nucleus RGD PMID:11597777 RGD:5686415 NCBI chr 3:114,127,580...114,199,407
Ensembl chr 3:114,127,580...114,199,407 		JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO protein:increased expression:brain RGD PMID:8883936 PMID:8626780 RGD:2298690, RGD:728656 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195 		JBrowse link
G DUSP6 dual specificity phosphatase 6 ISO mRNA:increased expression:brain RGD PMID:15496935 PMID:8626780 RGD:2316089, RGD:728656 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:23744421 RGD:10395306 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303 		JBrowse link
G ENDOG endonuclease G ISO RGD PMID:20077427 RGD:9685392 NCBI chr 9:128,818,500...128,822,676
Ensembl chr 9:128,818,500...128,822,676 		JBrowse link
G ENO2 enolase 2 ISO protein:altered expression:cerebrospinal fluid RGD PMID:15464860 RGD:5509052 NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698 		JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:23518641 RGD:10401076 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO protein:increased phosphorylation:hippocampus RGD PMID:22158510 PMID:22158510 RGD:10449024, RGD:10449024 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841 		JBrowse link
G FAS Fas cell surface death receptor ISO mRNA, protein:increased expression:hippocampus (rat) RGD PMID:11435933 RGD:8662911 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FCGR2A Fc gamma receptor IIa susceptibility IAGP associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.R131H (human) RGD PMID:17596285 RGD:5508454 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FCGR3A Fc gamma receptor IIIa susceptibility IAGP associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) RGD PMID:17596285 RGD:5508454 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO protein:increased expression:cerebral cortex,hippocampus,neuron, astrocyrte: RGD PMID:8072686 RGD:10402045 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO protein:increased expression:hippocampus RGD PMID:11488404 RGD:2293787 NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573 		JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 ISO protein:altered location:forebrain RGD PMID:19054408 PMID:15153780 RGD:2315437, RGD:2315492 NCBI chr 6:29,602,238...29,633,183
Ensembl chr 6:29,555,629...29,633,976 		JBrowse link
G GAD2 glutamate decarboxylase 2 susceptibility ISO RGD PMID:8954991 RGD:1302511 NCBI chr10:26,216,372...26,304,558
Ensembl chr10:26,216,665...26,304,558 		JBrowse link
G GAP43 growth associated protein 43 ISO RGD PMID:11054811 RGD:9685329 NCBI chr 3:115,623,510...115,721,483
Ensembl chr 3:115,623,510...115,721,490 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO RGD PMID:14622215 RGD:1299355 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJB6 gap junction protein beta 6 ISO RGD PMID:23149765 RGD:7364770 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO RGD PMID:11240587 RGD:6484589 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843 		JBrowse link
G GLUL glutamate-ammonia ligase ISO RGD PMID:21935729 RGD:10047087 NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206 		JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 ISO mRNA:increased expression:hippocampus (rat) RGD PMID:19666089 RGD:4107726 NCBI chr 5:153,489,615...153,813,869
Ensembl chr 5:153,489,615...153,813,869 		JBrowse link
G GRIA2 glutamate ionotropic receptor AMPA type subunit 2 ISO RGD PMID:7502080 RGD:737715 NCBI chr 4:157,220,120...157,366,075
Ensembl chr 4:157,204,182...157,387,146 		JBrowse link
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 ISO RGD PMID:12080343 RGD:625595 NCBI chr19:41,998,324...42,070,206
Ensembl chr19:41,998,321...42,070,206 		JBrowse link
G GRM8 glutamate metabotropic receptor 8 ISO RGD PMID:17434465 RGD:6771182 NCBI chr 7:126,438,598...127,252,941
Ensembl chr 7:126,438,598...127,253,093 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:17988239 RGD:9686135 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498 		JBrowse link
G HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO RGD PMID:17988239 RGD:9686135 NCBI chr19:589,881...617,159
Ensembl chr19:589,881...617,159 		JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased expression:hippocampus & cortex: RGD PMID:21987499 RGD:9590259 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308 		JBrowse link
G HDAC4 histone deacetylase 4 ISO RGD PMID:19672313 RGD:9681457 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HRH3 histamine receptor H3 ISO RGD PMID:15319804 RGD:1626432 NCBI chr20:62,214,960...62,220,278
Ensembl chr20:62,214,960...62,220,278 		JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A severity IEP protein:increased expression:cerebral spinal fluid: RGD PMID:22509781 RGD:7257648 NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression:hippocampus: RGD PMID:25219120 RGD:11354919 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382 		JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:hippocampus: RGD PMID:19944569 RGD:10755768 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:16886979 RGD:2315919 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL6R interleukin 6 receptor ISO mRNA:increased expression:hippocampus RGD PMID:12591161 RGD:1625441 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer ISO mRNA:increased expression:hippocampus, granule cell (rat) RGD PMID:14597225 RGD:1627572 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 ISO RGD PMID:22206926 RGD:10047237 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO RGD PMID:18021373 RGD:2301911 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KDM3B lysine demethylase 3B ISO RGD PMID:24397026 RGD:9590119 NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human) RGD PMID:24894778 RGD:13506818 NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229 		JBrowse link
G MAP1B microtubule associated protein 1B ISO mRNA, protein:altered localization:brain
mRNA:increased expression:hippocampus		 RGD PMID:11395167 PMID:12598335 RGD:2304062, RGD:2304015 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:12786973 RGD:2298728 NCBI chr 6:136,557,046...136,793,091
Ensembl chr 6:136,557,046...136,793,097 		JBrowse link
G MARCKS myristoylated alanine rich protein kinase C substrate ISO RGD PMID:11054811 RGD:9685329 NCBI chr 6:113,857,345...113,863,475
Ensembl chr 6:113,857,345...113,863,475 		JBrowse link
G MARCKSL1 MARCKS like 1 ISO RGD PMID:11054811 RGD:9685329 NCBI chr 1:32,333,839...32,336,233
Ensembl chr 1:32,333,839...32,336,233 		JBrowse link
G MBD1 methyl-CpG binding domain protein 1 ISO mRNA:increased expression:dentate gyrus RGD PMID:12123686 RGD:9587847 NCBI chr18:50,266,885...50,281,767
Ensembl chr18:50,266,882...50,281,774 		JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO mRNA:increased expression:hippocampus RGD PMID:12123686 RGD:9587847 NCBI chr18:54,151,606...54,224,669
Ensembl chr18:54,151,606...54,224,669 		JBrowse link
G MBD3 methyl-CpG binding domain protein 3 ISO mRNA:increased expression:hippocampus RGD PMID:12123686 RGD:9587847 NCBI chr19:1,573,596...1,592,865
Ensembl chr19:1,573,596...1,592,865 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO mRNA:increased expression:dentate gyrus RGD PMID:12123686 RGD:9587847 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MSH2 mutS homolog 2 ISO protein:increased expression:hippocampus, neuron RGD PMID:10625070 RGD:2293528 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO protein:decreased expression:mitochondrion, brain RGD PMID:15698621 RGD:2298956 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MT3 metallothionein 3 treatment ISO RGD PMID:23266720 RGD:9685809 NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088 		JBrowse link
G NCF2 neutrophil cytosolic factor 2 ISO protein:altered localization RGD PMID:15606902 RGD:2314448 NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905 		JBrowse link
G NEURL1 neuralized E3 ubiquitin protein ligase 1 ISO mRNA:decreased expression:brain RGD PMID:12213446 RGD:2302390 NCBI chr10:103,493,705...103,592,546
Ensembl chr10:103,493,705...103,592,546 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:24333359 PMID:24333359 RGD:10412723, RGD:10412723 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NGFR nerve growth factor receptor treatment ISO RGD PMID:12873743 RGD:9743975 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008 		JBrowse link
G NPY neuropeptide Y treatment ISO
IMP		 protein:decreased expression:hippocampus RGD PMID:21915341 PMID:19038255 RGD:10448927, RGD:10448944 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862 		JBrowse link
G NPY1R neuropeptide Y receptor Y1 ISO mRNA:decreased expression:brain RGD PMID:10521595 RGD:1642320 NCBI chr 4:163,323,962...163,344,689
Ensembl chr 4:163,323,962...163,344,832 		JBrowse link
G NPY5R neuropeptide Y receptor Y5 ISO RGD PMID:9212103 RGD:1625496 NCBI chr 4:163,343,892...163,352,403
Ensembl chr 4:163,343,892...163,351,934 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO protein:increased activity:brain RGD PMID:14991562 RGD:5133254 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO protein:decreased expression:brain RGD PMID:20113635 RGD:4892123 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NRG1 neuregulin 1 ISO RGD PMID:22158510 RGD:10449024 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666 		JBrowse link
G NRGN neurogranin ISO RGD PMID:11054811 RGD:9685329 NCBI chr11:124,739,942...124,747,210
Ensembl chr11:124,739,942...124,747,210 		JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 disease_progression ISO RGD PMID:10398295 RGD:12790965 NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,210...2,685,615 		JBrowse link
G PAWR pro-apoptotic WT1 regulator ISO protein:increased expression:hippocampus: RGD PMID:10349840 RGD:9835366 NCBI chr12:79,584,879...79,690,964
Ensembl chr12:79,574,979...79,690,964 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO mRNA:increased expression:dentate gyrus granule cell layer (rat) RGD PMID:9015327 RGD:2308918 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143 		JBrowse link
G PDE4A phosphodiesterase 4A ISO RGD PMID:16190900 RGD:2302430 NCBI chr19:10,416,773...10,469,631
Ensembl chr19:10,416,773...10,469,630 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:14980813 RGD:1581758 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:22293605 RGD:6483790 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G PLD1 phospholipase D1 ISO protein:increased expression:hippocampus RGD PMID:15330336 RGD:2299910 NCBI chr 3:171,600,404...171,810,483
Ensembl chr 3:171,600,404...171,810,950 		JBrowse link
G PLD2 phospholipase D2 ISO protein:increased expression:hippocampus RGD PMID:15330336 RGD:2299910 NCBI chr17:4,807,152...4,823,430
Ensembl chr17:4,807,152...4,823,434 		JBrowse link
G PLP1 proteolipid protein 1 ISO RGD PMID:434110 PMID:2479544 RGD:1358782, RGD:1358781 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PPP1R9A protein phosphatase 1 regulatory subunit 9A susceptibility ISO RGD PMID:22357852 RGD:10043800 NCBI chr 7:94,907,236...95,296,415
Ensembl chr 7:94,907,202...95,296,415 		JBrowse link
G PRICKLE1 prickle planar cell polarity protein 1 ISO protein:increased expression:hippocampus: RGD PMID:21905079 RGD:9686146 NCBI chr12:42,456,757...42,589,746
Ensembl chr12:42,456,757...42,590,355 		JBrowse link
G PTEN phosphatase and tensin homolog ISO RGD PMID:11726926 RGD:1302554 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:17827730 RGD:1642596 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTN pleiotrophin ISO mRNA:increased expression:hippocampus, piriform cortex (rat) RGD PMID:8453763 RGD:9831456 NCBI chr 7:137,227,341...137,343,733
Ensembl chr 7:137,227,341...137,343,774 		JBrowse link
G PTPRZ1 protein tyrosine phosphatase receptor type Z1 ISO RGD PMID:14637091 RGD:9589824 NCBI chr 7:121,873,161...122,062,036
Ensembl chr 7:121,873,089...122,062,036 		JBrowse link
G REG3A regenerating family member 3 alpha ISO mRNA:increased expression:hippocampus, hippocampal region (rat) RGD PMID:21093549 RGD:9831382 NCBI chr 2:79,157,006...79,159,753
Ensembl chr 2:79,157,003...79,159,753 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO protein:increased expression:dentate gyrus (rat) RGD PMID:15725396 RGD:5133692 NCBI chr11:4,094,685...4,138,932
Ensembl chr11:4,094,707...4,138,932 		JBrowse link
G RTN4 reticulon 4 ISO RGD PMID:17439704 RGD:2314957 NCBI chr 2:54,972,189...55,137,831
Ensembl chr 2:54,972,187...55,112,621 		JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:cerebrospinal fluid RGD PMID:15464860 RGD:5509052 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 ISO Scn2b mRNA levels in hippocampus respond to intraperitoneal kainate, which produces seizures RGD PMID:9672387 RGD:2317305 NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639 		JBrowse link
G SH3GL2 SH3 domain containing GRB2 like 2, endophilin A1 ISO RGD PMID:14751282 RGD:13464355 NCBI chr 9:17,579,066...17,797,124
Ensembl chr 9:17,579,066...17,797,124 		JBrowse link
G SLC12A2 solute carrier family 12 member 2 treatment ISO RGD PMID:16227993 RGD:1580584 NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677 		JBrowse link
G SLC38A1 solute carrier family 38 member 1 ISO mRNA:increased expression:hippocampus RGD PMID:21138736 RGD:9999229 NCBI chr12:46,183,063...46,269,043
Ensembl chr12:46,183,063...46,270,017 		JBrowse link
G SLC38A2 solute carrier family 38 member 2 ISO mRNA:increased expression:hippocampus RGD PMID:21138736 RGD:9999229 NCBI chr12:46,358,188...46,372,773
Ensembl chr12:46,358,188...46,372,773 		JBrowse link
G SLC38A3 solute carrier family 38 member 3 ISO mRNA:increased expression:hippocampus RGD PMID:21138736 RGD:9999229 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486 		JBrowse link
G SLC6A11 solute carrier family 6 member 11 ISO protein:decreased expression:hippocampus RGD PMID:17408599 RGD:1643196 NCBI chr 3:10,816,228...10,940,714
Ensembl chr 3:10,816,201...10,940,714 		JBrowse link
G SMO smoothened, frizzled class receptor ISO mRNA:increased expression:dentate gyrus RGD PMID:16197497 RGD:2324992 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:12132583 RGD:1581327 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO mRNA, protein:decreased expression:brain RGD PMID:19124072 RGD:2308818 NCBI chr22:41,833,105...41,907,305
Ensembl chr22:41,833,105...41,907,306 		JBrowse link
G SYT1 synaptotagmin 1 ISO RGD PMID:8872307 RGD:730127 NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008 		JBrowse link
G SYT10 synaptotagmin 10 ISO RGD PMID:9122248 RGD:61761 NCBI chr12:33,374,238...33,439,819
Ensembl chr12:33,374,238...33,439,819 		JBrowse link
G SYT4 synaptotagmin 4 ISO RGD PMID:8872307 RGD:730127 NCBI chr18:43,267,892...43,277,490
Ensembl chr18:43,267,892...43,277,535 		JBrowse link
G TACR3 tachykinin receptor 3 ISO mRNA:altered expression:brain RGD PMID:7898759 RGD:2305980 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP DNA:mutation:cds:c.751T>C(p.F251L)(human) RGD PMID:20797691 RGD:11537393 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TNF tumor necrosis factor IDA RGD PMID:23333565 RGD:7245573 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:23333565 RGD:7245573 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:23333565 RGD:7245573 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP associated with Lissencephaly;DNA:missense mutations:cds: RGD PMID:18954413 RGD:11067701 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080 		JBrowse link
G VDAC1 voltage dependent anion channel 1 treatment ISO RGD PMID:17893921 RGD:10003051 NCBI chr 5:133,971,871...134,114,540
Ensembl chr 5:133,971,871...134,004,975 		JBrowse link
G VDAC2 voltage dependent anion channel 2 treatment ISO RGD PMID:17893921 RGD:10003051 NCBI chr10:75,210,170...75,231,448
Ensembl chr10:75,210,154...75,231,448 		JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:20369387 RGD:5685634 NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765 		JBrowse link
G VTN vitronectin ISO RGD PMID:8721676 RGD:10003102 NCBI chr17:28,367,284...28,370,307
Ensembl chr17:28,367,284...28,373,091 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein treatment ISO RGD PMID:19799711 RGD:8694408 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G WNT2 Wnt family member 2 ISO mRNA:increased expression:hippocampus RGD PMID:14625142 RGD:2326231 NCBI chr 7:117,275,451...117,323,058
Ensembl chr 7:117,275,451...117,323,152 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO protein:increased expression:brain, neuron RGD PMID:15854596 RGD:2302852 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
G YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta ISO RGD PMID:12786973 RGD:2298728 NCBI chr20:44,885,705...44,908,532
Ensembl chr20:44,885,702...44,908,532 		JBrowse link
G YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO protein:decreased expression:hippocampus RGD PMID:16981892 RGD:1625714 NCBI chr 8:100,916,523...100,953,382
Ensembl chr 8:100,916,523...100,953,388 		JBrowse link
Arthrogryposis, Impaired Intellectual Development, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase IAGP ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome ClinVar PMID:24031089 PMID:28328131 PMID:28492532 NCBI chr 1:99,849,258...99,924,023
Ensembl chr 1:99,850,361...99,924,023 		JBrowse link
G SLC35A3 solute carrier family 35 member A3 IAGP
EXP		 ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 1:99,969,996...100,035,634
Ensembl chr 1:99,969,351...100,035,634 		JBrowse link
autosomal dominant intellectual developmental disorder 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOLD1 apolipoprotein L domain containing 1 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,725,917...12,791,466
Ensembl chr12:12,725,917...12,829,975 		JBrowse link
G ARHGDIB Rho GDP dissociation inhibitor beta IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,942,015...14,961,601
Ensembl chr12:14,942,031...14,961,728 		JBrowse link
G ART4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,825,569...14,843,526
Ensembl chr12:14,825,569...14,843,526 		JBrowse link
G ATF7IP activating transcription factor 7 interacting protein IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,365,682...14,502,930
Ensembl chr12:14,365,676...14,502,931 		JBrowse link
G BCL2L14 BCL2 like 14 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,049,861...12,099,695
Ensembl chr12:12,049,844...12,211,084 		JBrowse link
G BORCS5 BLOC-1 related complex subunit 5 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,357,078...12,471,233
Ensembl chr12:12,357,078...12,471,233 		JBrowse link
G C12orf60 chromosome 12 open reading frame 60 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,803,670...14,824,415
Ensembl chr12:14,803,666...14,906,586 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CREBL2 cAMP responsive element binding protein like 2 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,611,876...12,645,108
Ensembl chr12:12,611,827...12,645,108 		JBrowse link
G DDX47 DEAD-box helicase 47 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,813,346...12,829,981
Ensembl chr12:12,813,316...12,829,981 		JBrowse link
G DUSP16 dual specificity phosphatase 16 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,473,282...12,562,863
Ensembl chr12:12,473,282...12,562,863 		JBrowse link
G EMP1 epithelial membrane protein 1 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:13,196,726...13,219,941
Ensembl chr12:13,196,723...13,219,941 		JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329 		JBrowse link
G ERP27 endoplasmic reticulum protein 27 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,914,039...14,938,537
Ensembl chr12:14,914,039...14,938,537 		JBrowse link
G ETV6 ETS variant transcription factor 6 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377 		JBrowse link
G FAM234B family with sequence similarity 234 member B IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:13,044,381...13,083,449
Ensembl chr12:13,044,381...13,142,521 		JBrowse link
G GPR19 G protein-coupled receptor 19 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,660,890...12,717,246
Ensembl chr12:12,660,890...12,696,207 		JBrowse link
G GPRC5A G protein-coupled receptor class C group 5 member A IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,891,562...12,917,937
Ensembl chr12:12,890,782...12,917,937 		JBrowse link
G GPRC5D G protein-coupled receptor class C group 5 member D IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,940,575...12,952,170
Ensembl chr12:12,940,575...12,952,170 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B IAGP
EXP		 ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar Annotator: match by term: GRIN2B-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002 		JBrowse link
G GSG1 germ cell associated 1 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:13,083,532...13,103,667
Ensembl chr12:13,083,532...13,103,683 		JBrowse link
G GUCY2C guanylate cyclase 2C IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599 		JBrowse link
G H2AJ H2A.J histone IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,774,405...14,778,002
Ensembl chr12:14,774,405...14,778,002 		JBrowse link
G H4C16 H4 histone 16 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,770,720...14,771,131
Ensembl chr12:14,767,999...14,771,131 		JBrowse link
G HEBP1 heme binding protein 1 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,974,870...13,000,265
Ensembl chr12:12,974,870...13,000,265 		JBrowse link
G LRP6 LDL receptor related protein 6 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044 		JBrowse link
G MANSC1 MANSC domain containing 1 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:12,326,056...12,350,242
Ensembl chr12:12,326,056...12,350,242 		JBrowse link
G MGP matrix Gla protein IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G PDE6H phosphodiesterase 6H IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,973,042...14,981,865
Ensembl chr12:14,973,042...14,981,865 		JBrowse link
G PLBD1 phospholipase B domain containing 1 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,503,661...14,567,883
Ensembl chr12:14,503,661...14,567,883 		JBrowse link
G PTPRO protein tyrosine phosphatase receptor type O IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:15,322,508...15,598,331
Ensembl chr12:15,322,257...15,602,175 		JBrowse link
G RERG RAS like estrogen regulated growth inhibitor IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:15,107,783...15,221,417
Ensembl chr12:15,107,783...15,348,675 		JBrowse link
G SMCO3 single-pass membrane protein with coiled-coil domains 3 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,804,650...14,814,182
Ensembl chr12:14,804,650...14,814,182 		JBrowse link
G WBP11 WW domain binding protein 11 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr12:14,784,582...14,803,478
Ensembl chr12:14,784,582...14,803,486 		JBrowse link
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures
ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27567911 More... NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369 		JBrowse link
G KCNMA1-AS1 KCNMA1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures
ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr10:76,888,044...76,978,593
Ensembl chr10:76,888,044...76,980,624 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTC1 CST telomere replication complex component 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome		 CTD
ClinVar		 PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G STN1 STN1 subunit of CST complex EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTC1 CST telomere replication complex component 1 IAGP ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More... NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase IAGP ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr17:8,247,608...8,270,486
Ensembl chr17:8,247,618...8,270,491 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STN1 STN1 subunit of CST complex IAGP ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POT1 protection of telomeres 1 IAGP ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM		 PMID:27013236 PMID:28492532 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		JBrowse link
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP11B Rho GTPase activating protein 11B IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,626,128...30,649,229
Ensembl chr15:30,624,494...30,649,529 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit IAGP
EXP		 ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 PMID:31690835 NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018 		JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108 		JBrowse link
G KLF13 KLF transcription factor 13 IAGP
EXP		 ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:31690835 NCBI chr15:31,326,835...31,435,665
Ensembl chr15:31,326,835...31,435,665 		JBrowse link
G LINC02352 long intergenic non-protein coding RNA 2352 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,216,021...31,225,007
Ensembl chr15:31,215,622...31,224,445 		JBrowse link
G LINC03034 long intergenic non-protein coding RNA 3034 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,222,767...31,230,862
Ensembl chr15:31,202,934...31,230,886 		JBrowse link
G LOC106736476 proximal CHRNA7 low-copy repeat recombination region IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,696,739...30,736,191 JBrowse link
G LOC106736477 distal CHRNA7 low-copy repeat recombination region IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,669,429...31,708,953 JBrowse link
G LOC106736480 15q13 proximal microdeletion recombination region IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,614,939...30,628,733 JBrowse link
G LOC106783506 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:30917238-30918231 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,625,035...30,626,187 JBrowse link
G LOC110121498 VISTA enhancer hs2231 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,303,587...31,308,005 JBrowse link
G LOC112272582 Sharpr-MPRA regulatory region 5138 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,236,506...31,236,800 JBrowse link
G LOC121847941 Sharpr-MPRA regulatory region 8183 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,024,406...31,024,700 JBrowse link
G LOC125078053 Sharpr-MPRA regulatory region 11410 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,867,846...31,868,140 JBrowse link
G LOC126862088 BRD4-independent group 4 enhancer GRCh37_chr15:31318084-31319283 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,025,881...31,027,080 JBrowse link
G LOC126862089 MED14-independent group 3 enhancer GRCh37_chr15:31442413-31443612 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,150,210...31,151,777 JBrowse link
G LOC127829159 KLF13 promoter region IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,325,960...31,327,016 JBrowse link
G LOC128899998 KLF13-II enhancer IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,298,793...31,299,108 JBrowse link
G LOC128899999 KLF13-III enhancer IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,303,190...31,303,492 JBrowse link
G LOC129390679 MPRA-validated peak2284 silencer IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,839,892...30,840,092 JBrowse link
G LOC129390680 MPRA-validated peak2285 silencer IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,885,893...30,886,093 JBrowse link
G LOC130056726 ATAC-STARR-seq lymphoblastoid silent region 6267 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,392,497...31,392,546 JBrowse link
G LOC130056727 ATAC-STARR-seq lymphoblastoid silent region 6268 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,870,636...31,870,705 JBrowse link
G MIR211 microRNA 211 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,065,032...31,065,141
Ensembl chr15:31,065,032...31,065,141 		JBrowse link
G MTMR10 myotubularin related protein 10 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:30,918,716...30,991,628
Ensembl chr15:30,938,941...30,991,628 		JBrowse link
G OTUD7A OTU deubiquitinase 7A IAGP
ISS		 ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome
OMIM:612001		 ClinVar
MouseDO		 PMID:31690835 NCBI chr15:31,475,398...31,870,673
Ensembl chr15:31,475,398...31,870,789 		JBrowse link
G TRPM1 transient receptor potential cation channel subfamily M member 1 IAGP ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:31,001,065...31,161,160
Ensembl chr15:31,001,065...31,161,160 		JBrowse link
Craniosynostosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSX2 msh homeobox 2 IAGP
EXP		 ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896 		JBrowse link
developmental delay and seizures with or without movement abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP ClinVar Annotator: match by term: Developmental delay and seizures with or without movement abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29100083 PMID:31440733 PMID:31780880 More... NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306 		JBrowse link
Dyskinesias, Seizures, and Intellectual Developmental Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DEAF1 DEAF1 transcription factor IAGP
EXP		 ClinVar Annotator: match by term: DEAF1-related condition | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder
ClinVar Annotator: match by term: DEAF1-Related Disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11690625 PMID:17576681 PMID:24668509 PMID:24726472 More... NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G LOC126861109 BRD4-independent group 4 enhancer GRCh37_chr11:673917-675116 IAGP ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder
ClinVar Annotator: match by term: DEAF1-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:673,917...675,116 JBrowse link
EAST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G IGSF8 immunoglobulin superfamily member 8 IAGP ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:160,091,339...160,099,468
Ensembl chr 1:160,091,340...160,098,943 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP
ISS
EXP		 DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human)
ClinVar Annotator: match by term: EAST syndrome
ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy
ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome
OMIM:612780
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... RGD:8662866 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160 		JBrowse link
G KCNJ9 potassium inwardly rectifying channel subfamily J member 9 IAGP ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:160,081,538...160,090,563
Ensembl chr 1:160,081,538...160,090,563 		JBrowse link
G LOC129931687 ATAC-STARR-seq lymphoblastoid silent region 1457 IAGP ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome ClinVar
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130058793 ATAC-STARR-seq lymphoblastoid active region 10682 IAGP ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr16:29,825,128...29,825,207 JBrowse link
G LOC130058794 ATAC-STARR-seq lymphoblastoid active region 10683 IAGP ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr16:29,825,268...29,825,397 JBrowse link
G MVP major vault protein IAGP ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr16:29,820,394...29,848,039
Ensembl chr16:29,820,394...29,848,039 		JBrowse link
G MVP-DT MVP divergent transcript IAGP ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS		 ClinVar PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr16:29,808,644...29,820,367
Ensembl chr16:29,808,636...29,821,252 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP
EXP		 ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APBB2 amyloid beta precursor protein binding family B member 2 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:40,810,027...41,214,542
Ensembl chr 4:40,810,027...41,216,714 		JBrowse link
G CHRNA9 cholinergic receptor nicotinic alpha 9 subunit IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:40,335,333...40,355,217
Ensembl chr 4:40,335,333...40,355,217 		JBrowse link
G FAM114A1 family with sequence similarity 114 member A1 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:38,867,806...38,945,739
Ensembl chr 4:38,867,677...38,945,739 		JBrowse link
G KLB klotho beta IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:39,406,930...39,451,533
Ensembl chr 4:39,406,930...39,451,533 		JBrowse link
G KLHL5 kelch like family member 5 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:39,044,827...39,143,101
Ensembl chr 4:39,045,039...39,126,857 		JBrowse link
G LIAS lipoic acid synthetase IAGP
EXP		 ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chr 4:39,459,056...39,479,506
Ensembl chr 4:39,459,004...39,485,109 		JBrowse link
G LIMCH1 LIM and calponin homology domains 1 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:41,359,607...41,700,044
Ensembl chr 4:41,359,607...41,700,044 		JBrowse link
G LOC112939935 Sharpr-MPRA regulatory region 11886 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:39,458,869...39,459,163 JBrowse link
G LOC129992453 ATAC-STARR-seq lymphoblastoid active region 21459 IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532
G N4BP2 NEDD4 binding protein 2 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:40,056,850...40,190,470
Ensembl chr 4:40,056,797...40,158,252 		JBrowse link
G NSUN7 NOP2/Sun RNA methyltransferase family member 7 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:40,749,955...40,811,184
Ensembl chr 4:40,749,925...40,811,184 		JBrowse link
G PDS5A PDS5 cohesin associated factor A IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:39,822,863...39,977,911
Ensembl chr 4:39,822,863...39,977,956 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
G RBM47 RNA binding motif protein 47 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:40,423,280...40,630,852
Ensembl chr 4:40,423,267...40,630,875 		JBrowse link
G RFC1 replication factor C subunit 1 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:39,287,456...39,366,362
Ensembl chr 4:39,287,456...39,366,375 		JBrowse link
G RHOH ras homolog family member H IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,011...40,246,967 		JBrowse link
G RPL9 ribosomal protein L9 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931 		JBrowse link
G SMIM14 small integral membrane protein 14 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:39,546,336...39,638,865
Ensembl chr 4:39,546,336...39,638,902 		JBrowse link
G TLR1 toll like receptor 1 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,790,677...38,856,817 		JBrowse link
G TLR10 toll like receptor 10 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:38,772,238...38,782,990
Ensembl chr 4:38,772,238...38,782,990 		JBrowse link
G TLR6 toll like receptor 6 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817 		JBrowse link
G TMEM156 transmembrane protein 156 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:38,966,744...39,032,409
Ensembl chr 4:38,966,744...39,032,922 		JBrowse link
G UBE2K ubiquitin conjugating enzyme E2 K IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:39,698,136...39,782,792
Ensembl chr 4:39,698,109...39,782,792 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311 		JBrowse link
G WDR19 WD repeat domain 19 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADK adenosine kinase IAGP
EXP		 ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency
ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963 		JBrowse link
G LOC102723439 uncharacterized LOC102723439 IAGP ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency
ClinVar Annotator: match by term: ADK-related condition		 ClinVar PMID:21963049 PMID:25741868 PMID:26642971 PMID:28492532 NCBI chr10:74,506,498...74,529,324 JBrowse link
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 IAGP
EXP		 ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24699222 PMID:25741868 PMID:28492532 NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222 		JBrowse link
G LOC130004628 ATAC-STARR-seq lymphoblastoid silent region 2775 IAGP ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 1 ClinVar PMID:25741868 NCBI chr10:102,918,880...102,918,969 JBrowse link
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 IAGP ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30388404 NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261 		JBrowse link
G ATP1A1-AS1 ATP1A1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 2 ClinVar PMID:25741868 PMID:28492532 PMID:30388404 NCBI chr 1:116,392,865...116,418,622
Ensembl chr 1:116,378,437...116,421,301 		JBrowse link
hypoparathyroidism-retardation-dysmorphism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G LOC126806060 MED14-independent group 3 enhancer GRCh37_chr1:235605546-235606745 IAGP ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:235,442,231...235,443,430 JBrowse link
G TBCE tubulin folding cofactor E IAGP
EXP		 ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112136095 Sharpr-MPRA regulatory region 5970 IAGP ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy		 ClinVar PMID:25741868 NCBI chr11:93,784,103...93,784,558 JBrowse link
G LOC130006596 ATAC-STARR-seq lymphoblastoid silent region 3840 IAGP ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy		 ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr11:93,784,689...93,784,818 JBrowse link
G MED17 mediator complex subunit 17 IAGP
EXP		 ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 PMID:26240385 More... NCBI chr11:93,784,282...93,814,963
Ensembl chr11:93,784,227...93,814,963 		JBrowse link
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTUD6B OTU deubiquitinase 6B IAGP
EXP		 ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | ClinVar Annotator: match by term: OTUD6B-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28343629 PMID:28492532 PMID:31147255 PMID:32181568 More... NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095 		JBrowse link
microcephaly, seizures, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUSAP1 nucleolar and spindle associated protein 1 IAGP ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr15:41,332,881...41,381,046
Ensembl chr15:41,320,794...41,381,050 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP
EXP		 ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126862785 MED14-independent group 3 enhancer GRCh37_chr18:67714790-67715989 IAGP ClinVar Annotator: match by term: RTTN-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr18:70,047,554...70,048,753 JBrowse link
G RTTN rotatin IAGP
EXP		 ClinVar Annotator: match by term: RTTN-related condition
ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL2 BCL2 apoptosis regulator IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G HMSD histocompatibility minor serpin domain containing IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,949,301...63,969,648
Ensembl chr18:63,949,301...63,981,774 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228 		JBrowse link
G LOC130062624 ATAC-STARR-seq lymphoblastoid active region 13429 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,187,361...62,187,570 JBrowse link
G LOC130062625 ATAC-STARR-seq lymphoblastoid silent region 9502 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,187,721...62,187,940 JBrowse link
G LOC130062626 ATAC-STARR-seq lymphoblastoid silent region 9503 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,249,595...62,249,644 JBrowse link
G LOC130062627 ATAC-STARR-seq lymphoblastoid silent region 9504 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,324,942...62,325,151 JBrowse link
G LOC130062628 ATAC-STARR-seq lymphoblastoid silent region 9505 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,325,202...62,325,401 JBrowse link
G LOC130062629 ATAC-STARR-seq lymphoblastoid silent region 9506 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,368,285...62,368,434 JBrowse link
G LOC130062630 ATAC-STARR-seq lymphoblastoid active region 13430 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,418,385...62,418,434 JBrowse link
G LOC130062631 ATAC-STARR-seq lymphoblastoid silent region 9507 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,420,709...62,420,758 JBrowse link
G LOC132090496 Neanderthal introgressed variant-containing enhancer experimental_48670 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:24253414 PMID:25640679 PMID:27038415 PMID:28492532 NCBI chr18:62,096,279...62,096,448 JBrowse link
G LOC132090497 Neanderthal introgressed variant-containing enhancer experimental_48690 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:24253414 PMID:27038415 PMID:28492532 PMID:35179230 NCBI chr18:62,105,608...62,105,777 JBrowse link
G LOC132090498 Neanderthal introgressed variant-containing enhancer experimental_48738 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:16199547 PMID:24253414 PMID:25741868 PMID:27038415 PMID:28492532 NCBI chr18:62,114,637...62,114,806 JBrowse link
G LOC132090499 Neanderthal introgressed variant-containing enhancer experimental_48746 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,117,761...62,117,930 JBrowse link
G LOC132090500 Neanderthal introgressed variant-containing enhancer experimental_48887 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,227,446...62,227,615 JBrowse link
G LOC132090501 Neanderthal introgressed variant-containing enhancer experimental_48897 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,250,610...62,250,779 JBrowse link
G LOC132090899 Neanderthal introgressed variant-containing enhancer experimental_48726/48728 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:28492532 NCBI chr18:62,110,934...62,111,103 JBrowse link
G PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:62,715,541...62,980,433
Ensembl chr18:62,715,541...62,980,433 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP
EXP		 ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:62,187,255...62,310,249
Ensembl chr18:62,187,255...62,310,249 		JBrowse link
G SERPINB10 serpin family B member 10 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,907,958...63,936,111
Ensembl chr18:63,907,958...63,936,111 		JBrowse link
G SERPINB11 serpin family B member 11 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,702,304...63,723,893
Ensembl chr18:63,647,579...63,726,432 		JBrowse link
G SERPINB12 serpin family B member 12 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,519,110...63,569,329
Ensembl chr18:63,542,369...63,569,329 		JBrowse link
G SERPINB13 serpin family B member 13 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,587,343...63,599,192
Ensembl chr18:63,586,989...63,604,639 		JBrowse link
G SERPINB2 serpin family B member 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,887,705...63,903,888
Ensembl chr18:63,871,692...63,903,888 		JBrowse link
G SERPINB3 serpin family B member 3 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,655,197...63,661,893
Ensembl chr18:63,655,197...63,661,893 		JBrowse link
G SERPINB4 serpin family B member 4 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,637,259...63,644,256
Ensembl chr18:63,637,259...63,644,256 		JBrowse link
G SERPINB5 serpin family B member 5 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,476,958...63,505,085
Ensembl chr18:63,476,958...63,505,085 		JBrowse link
G SERPINB7 serpin family B member 7 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,753,057...63,805,370
Ensembl chr18:63,752,935...63,805,376 		JBrowse link
G SERPINB8 serpin family B member 8 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,970,081...64,019,779
Ensembl chr18:63,970,029...64,019,779 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288 		JBrowse link
G VPS4B vacuolar protein sorting 4 homolog B IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:63,389,190...63,422,476
Ensembl chr18:63,389,190...63,422,483 		JBrowse link
G ZCCHC2 zinc finger CCHC-type containing 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr18:62,523,025...62,586,729
Ensembl chr18:62,523,025...62,587,709 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE2 angiotensin converting enzyme 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G ASB11 ankyrin repeat and SOCS box containing 11 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,281,697...15,315,640
Ensembl chr  X:15,281,697...15,315,640 		JBrowse link
G ASB9 ankyrin repeat and SOCS box containing 9 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,243,987...15,270,467
Ensembl chr  X:15,235,288...15,270,467 		JBrowse link
G BMX BMX non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,500,807...15,556,519
Ensembl chr  X:15,464,246...15,556,529 		JBrowse link
G CA5B carbonic anhydrase 5B IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,738,270...15,788,411
Ensembl chr  X:15,688,830...15,788,411 		JBrowse link
G CLTRN collectrin, amino acid transport regulator IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,627,318...15,675,644
Ensembl chr  X:15,627,318...15,675,012 		JBrowse link
G FANCB FA complementation group B IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G INE2 inactivation escape 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,785,716...15,787,589
Ensembl chr  X:15,785,716...15,787,589 		JBrowse link
G MOSPD2 motile sperm domain containing 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:14,873,421...14,922,327
Ensembl chr  X:14,873,421...14,922,327 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP
EXP		 ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIR pirin IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,384,799...15,493,333
Ensembl chr  X:15,384,799...15,493,564 		JBrowse link
G VEGFD vascular endothelial growth factor D IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,345,596...15,384,413
Ensembl chr  X:15,345,596...15,384,413 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,790,484...15,823,260
Ensembl chr  X:15,790,156...15,830,694 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR6812 microRNA 6812 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 ClinVar PMID:28492532 NCBI chr20:45,425,510...45,425,573
Ensembl chr20:45,425,510...45,425,573 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP
EXP		 ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77
ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4		 OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		JBrowse link
myoclonic-atonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G CCDC120 coiled-coil domain containing 120 IAGP ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:49,053,572...49,069,858
Ensembl chr  X:49,053,572...49,069,857 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset ClinVar PMID:9536098 PMID:17576681 PMID:23708187 PMID:24207121 PMID:25741868 More... NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,886,203...93,027,996 		JBrowse link
G DNM1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G FGF12 fibroblast growth factor 12 IAGP ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More... NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G LOC126862230 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:93523977-93525176 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset ClinVar PMID:25741868 PMID:28492532 NCBI chr15:92,980,747...92,981,946 JBrowse link
G PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 IAGP ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr10:96,593,315...96,720,514
Ensembl chr10:96,593,315...96,720,514 		JBrowse link
G PRAF2 PRA1 domain family member 2 IAGP ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:49,071,161...49,074,002
Ensembl chr  X:49,071,161...49,074,002 		JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 IAGP ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304 		JBrowse link
G RBFOX1 RNA binding fox-1 homolog 1 IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr16:5,239,721...7,713,340
Ensembl chr16:5,239,802...7,713,340 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More... NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More... NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 IAGP
EXP		 ClinVar Annotator: match by term: SLC6A1-related condition
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition
ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More... NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247 		JBrowse link
G SLC6A1-AS1 SLC6A1 antisense RNA 1 IAGP ClinVar Annotator: match by term: SLC6A1-related condition
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition		 ClinVar PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More... NCBI chr 3:11,006,098...11,019,224
Ensembl chr 3:11,006,098...11,019,224 		JBrowse link
G SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 IAGP ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 1:206,203,541...206,464,436
Ensembl chr 1:206,203,346...206,464,436 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Infantile spasm
ClinVar Annotator: match by term: Early onset epileptic encephalopathy		 ClinVar PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More... NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G WDR45 WD repeat domain 45 IAGP ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADARB1 adenosine deaminase RNA specific B1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560 		JBrowse link
G CPSF3 cleavage and polyadenylation specific factor 3 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr 2:9,423,654...9,473,101
Ensembl chr 2:9,423,651...9,473,101 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 IAGP
EXP		 ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language
ClinVar Annotator: match by term: HECW2-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29807643 NCBI chr 2:196,194,072...196,593,554
Ensembl chr 2:196,189,099...196,593,684 		JBrowse link
G NTNG2 netrin G2 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr 9:132,161,689...132,244,526
Ensembl chr 9:132,162,058...132,244,526 		JBrowse link
Occipital Cortical Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMC3 laminin subunit gamma 3 IAGP
EXP		 ClinVar Annotator: match by term: Cortical malformations, occipital
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... NCBI chr 9:131,009,174...131,094,473
Ensembl chr 9:131,009,174...131,094,473 		JBrowse link
G LOC126860777 BRD4-independent group 4 enhancer GRCh37_chr9:133927058-133928257 IAGP ClinVar Annotator: match by term: Cortical malformations, occipital ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:131,051,671...131,052,870 JBrowse link
optic atrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RTN4IP1 reticulon 4 interacting protein 1 IAGP
EXP		 ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition
ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:25741916 PMID:26593267 PMID:28492532 PMID:28638143 More... NCBI chr 6:106,570,771...106,630,491
Ensembl chr 6:106,570,771...106,629,498 		JBrowse link
Partington syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARX aristaless related homeobox IAGP
EXP		 DNA:duplication:exon:c.428-451dup (human)
ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... RGD:11565843 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G LOC109610631 aristaless related homeobox polyalanine expansion region IAGP ClinVar Annotator: match by term: Partington syndrome ClinVar PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:25,013,530...25,013,697 JBrowse link
PHGDH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM30 ADAM metallopeptidase domain 30 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 1:119,893,533...119,896,515
Ensembl chr 1:119,893,533...119,896,515 		JBrowse link
G HAO2 hydroxyacid oxidase 2 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:119,368,785...119,394,130
Ensembl chr 1:119,368,779...119,394,130 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905 		JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:119,507,203...119,515,058
Ensembl chr 1:119,507,198...119,515,054 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G NOTCH2 notch receptor 2 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP
EXP		 ClinVar Annotator: match by term: PHGDH deficiency
ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G REG4 regenerating family member 4 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 1:119,794,017...119,811,460
Ensembl chr 1:119,794,017...119,811,580 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654 		JBrowse link
G ZNF697 zinc finger protein 697 IAGP ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:119,619,377...119,648,266
Ensembl chr 1:119,619,377...119,648,266 		JBrowse link
Primary Aldosteronism, Seizures, and Neurologic Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1D calcium voltage-gated channel subunit alpha1 D IAGP ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities
ClinVar Annotator: match by term: CACNA1D-related condition
ClinVar Annotator: match by term: CACNA1D-related condition | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities
ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733 		JBrowse link
G LOC129936904 ATAC-STARR-seq lymphoblastoid active region 19969 IAGP ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities
ClinVar Annotator: match by term: CACNA1D-related condition		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532
PSAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSAT1 phosphoserine aminotransferase 1 IAGP
EXP		 ClinVar Annotator: match by term: PSAT deficiency
ClinVar Annotator: match by term: PSAT deficiency | ClinVar Annotator: match by term: Phosphoserine aminotransferase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093 		JBrowse link
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAT1 BRCA1 associated ATM activator 1 IAGP ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:16452482 PMID:17576681 PMID:19481195 More... NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar PMID:22279524 PMID:25500575 PMID:28492532 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177 		JBrowse link
G MVP-DT MVP divergent transcript IAGP ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 NCBI chr16:29,808,644...29,820,367
Ensembl chr16:29,808,636...29,821,252 		JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 IAGP ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 NCBI chr16:29,816,152...29,822,489
Ensembl chr16:29,816,152...29,822,489 		JBrowse link
Seizures, Cortical Blindness, and Microcephaly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIAPH1 diaphanous related formin 1 IAGP
EXP		 ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G LOC129994866 ATAC-STARR-seq lymphoblastoid active region 23307 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar
G LOC129994867 ATAC-STARR-seq lymphoblastoid active region 23308 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRMT7 protein arginine methyltransferase 7 IAGP ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures ClinVar
OMIM		 PMID:2643702 PMID:16199547 PMID:25741868 PMID:26437029 PMID:27718516 More... NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
Smith-Kingsmore Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTOR mechanistic target of rapamycin kinase IAGP ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome
ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome
ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related		 OMIM
ClinVar		 PMID:21210909 PMID:23322780 PMID:23636326 PMID:24625776 PMID:24631838 More... NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MTOR-AS1 MTOR antisense RNA 1 IAGP ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:11,143,898...11,149,538
Ensembl chr 1:11,143,898...11,149,537 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532 		JBrowse link
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129930369 ATAC-STARR-seq lymphoblastoid silent region 772 IAGP ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS ClinVar PMID:25741868 PMID:28492532
G SLC2A1 solute carrier family 2 member 1 IAGP
EXP		 ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects
ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:10980529 PMID:11477212 PMID:12325075 PMID:15622525 More... NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC2A1-DT SLC2A1 divergent transcript IAGP ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS ClinVar PMID:25741868 NCBI chr 1:42,959,049...42,983,358
Ensembl chr 1:42,959,049...42,996,814 		JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Pettigrew syndrome
OMIM:304340
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G CUL4B cullin 4B IAGP ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
White-Sutton syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP
EXP		 ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9862965 PMID:22495311 PMID:22542183 PMID:23375656 PMID:24267886 More... NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
X-linked mental retardation Gustavson type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBMX RNA binding motif protein X-linked IAGP
EXP		 ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741905 NCBI chr  X:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      nervous system disease 26235
        Neurologic Manifestations 15391
          visual epilepsy 383
            Adams Nance Syndrome 0
            Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 0
            Arthrogryposis, Impaired Intellectual Development, and Seizures 2
            Baraitser Rodeck Garner syndrome 0
            CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 2
            Cerebroretinal Microangiopathy with Calcifications and Cysts + 4
            Copper Deficiency, Familial Benign 0
            Craniosynostosis 2 1
            Dyskinesias, Seizures, and Intellectual Developmental Disorder 2
            Dysmyelination with Jaundice 0
            EAST syndrome 5
            Familial Convulsive Disorder with Prenatal or Early Onset 0
            Familial Infantile Convulsions and Paroxysmal Choreoathetosis 5
            HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY + 4
            Hyper-Beta-Alaninemia 0
            Hyperglycinemia, Lactic Acidosis, and Seizures 26
            Hyperleucine-Isoleucinemia 0
            Hyperphosphatemia, Polyuria, and Seizures 0
            Hypotonia, Seizures, and Precocious Puberty 0
            Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
            Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 0
            Methionine Malabsorption Syndrome 0
            Microcephaly Seizures Genital Hypoplasia 0
            Microcephaly Seizures Mental Retardation Heart Disorders 0
            Microcephaly Sparse Hair Mental Retardation Seizures 0
            Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 2
            Muller Barth Menger Syndrome 0
            NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 2
            Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 2
            Occipital Cortical Malformations 2
            PHGDH deficiency 11
            PSAT deficiency 1
            Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 0
            Partington syndrome 2
            Perniola Krajewska Carnevale Syndrome 0
            Primary Aldosteronism, Seizures, and Neurologic Abnormalities 2
            Qazi Markouizos syndrome 0
            Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 4
            Seizures, Cortical Blindness, and Microcephaly Syndrome 3
            Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 1
            Smith-Kingsmore Syndrome 4
            Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 3
            Tranebjaerg Svejgaard syndrome 0
            White-Sutton syndrome 3
            X-linked mental retardation Gustavson type 1
            autosomal dominant intellectual developmental disorder 6 34
            chromosome 15q13.3 microdeletion syndrome 27
            developmental delay and seizures with or without movement abnormalities 1
            hypermethioninemia due to adenosine kinase deficiency 2
            hypoparathyroidism-retardation-dysmorphism syndrome 3
            infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 3
            microcephaly, seizures, and developmental delay 2
            multiple congenital anomalies-hypotonia-seizures syndrome + 51
            myoclonic-atonic epilepsy 22
            optic atrophy 10 1
            syndromic X-linked intellectual disability 5 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      nervous system disease 26235
        Neurologic Manifestations 15391
          sensory system disease 9738
            eye disease 4946
              visual pathway disease 386
                visual cortex disease 383
                  visual epilepsy 383
                    Adams Nance Syndrome 0
                    Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 0
                    Arthrogryposis, Impaired Intellectual Development, and Seizures 2
                    Baraitser Rodeck Garner syndrome 0
                    CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 2
                    Cerebroretinal Microangiopathy with Calcifications and Cysts + 4
                    Copper Deficiency, Familial Benign 0
                    Craniosynostosis 2 1
                    Dyskinesias, Seizures, and Intellectual Developmental Disorder 2
                    Dysmyelination with Jaundice 0
                    EAST syndrome 5
                    Familial Convulsive Disorder with Prenatal or Early Onset 0
                    Familial Infantile Convulsions and Paroxysmal Choreoathetosis 5
                    HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY + 4
                    Hyper-Beta-Alaninemia 0
                    Hyperglycinemia, Lactic Acidosis, and Seizures 26
                    Hyperleucine-Isoleucinemia 0
                    Hyperphosphatemia, Polyuria, and Seizures 0
                    Hypotonia, Seizures, and Precocious Puberty 0
                    Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
                    Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 0
                    Methionine Malabsorption Syndrome 0
                    Microcephaly Seizures Genital Hypoplasia 0
                    Microcephaly Seizures Mental Retardation Heart Disorders 0
                    Microcephaly Sparse Hair Mental Retardation Seizures 0
                    Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 2
                    Muller Barth Menger Syndrome 0
                    NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 2
                    Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 2
                    Occipital Cortical Malformations 2
                    PHGDH deficiency 11
                    PSAT deficiency 1
                    Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 0
                    Partington syndrome 2
                    Perniola Krajewska Carnevale Syndrome 0
                    Primary Aldosteronism, Seizures, and Neurologic Abnormalities 2
                    Qazi Markouizos syndrome 0
                    Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 4
                    Seizures, Cortical Blindness, and Microcephaly Syndrome 3
                    Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 1
                    Smith-Kingsmore Syndrome 4
                    Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 3
                    Tranebjaerg Svejgaard syndrome 0
                    White-Sutton syndrome 3
                    X-linked mental retardation Gustavson type 1
                    autosomal dominant intellectual developmental disorder 6 34
                    chromosome 15q13.3 microdeletion syndrome 27
                    developmental delay and seizures with or without movement abnormalities 1
                    hypermethioninemia due to adenosine kinase deficiency 2
                    hypoparathyroidism-retardation-dysmorphism syndrome 3
                    infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 3
                    microcephaly, seizures, and developmental delay 2
                    multiple congenital anomalies-hypotonia-seizures syndrome + 51
                    myoclonic-atonic epilepsy 22
                    optic atrophy 10 1
                    syndromic X-linked intellectual disability 5 2
paths to the root