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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:X-linked epilepsy with variable learning disabilities and behavior disorders
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Accession:DOID:0112122 term browser browse the term
Definition:An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in SYN1 on chromosome Xp11.3-p11.2. (DO)
Synonyms:exact_synonym: EPILX;   EPILX1;   X-linked bathing epilepsy;   X-linked epilepsy 1 with variable learning disabilities and behavior disorders;   X-linked epilepsy with reflex bathing seizures;   X-linked epilepsy-learning disabilities-behavior disorders syndrome
 primary_id: MESH:C564505
 alt_id: OMIM:300491
 xref: ORDO:85294


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X-linked epilepsy with variable learning disabilities and behavior disorders term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684 		JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:1,227,392...1,292,356
Ensembl chr  X:1,227,392...1,239,073 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:15,478,050...15,543,292
Ensembl chr  X:15,478,065...15,542,885 		JBrowse link
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:1,492,814...1,504,309
Ensembl chr  X:1,492,814...1,504,148 		JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:1,162,014...1,167,576
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,243,684...14,256,555
Ensembl chr  X:14,244,050...14,252,030 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683 		JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384 		JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Jade3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:1,668,873...1,848,781
Ensembl chr  X:1,669,930...1,845,138 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566 		JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,617,582...14,622,851
Ensembl chr  X:14,617,582...14,622,851 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,285,864...14,298,481
Ensembl chr  X:14,285,871...14,298,481 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:1,540,399...1,572,571
Ensembl chr  X:1,540,398...1,572,575 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,348,909...14,352,387
Ensembl chr  X:14,348,910...14,353,580 		JBrowse link
G Rgn regucalcin ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:1,619,030...1,634,456
Ensembl chr  X:1,619,032...1,634,450 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:1,872,581...1,916,704
Ensembl chr  X:1,873,306...1,916,688 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:15,869,065...16,076,850
Ensembl chr  X:15,869,065...16,076,869 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678 		JBrowse link
G Slc38a5 solute carrier family 38, member 5 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,213,727...14,222,498
Ensembl chr  X:14,213,729...14,222,498 		JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:2,214,064...2,395,052
Ensembl chr  X:2,214,441...2,388,012 		JBrowse link
G Spaca5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:918,817...922,000
Ensembl chr  X:918,817...922,049 		JBrowse link
G Ssx1 SSX family member 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:13,931,433...13,939,732
Ensembl chr  X:13,931,470...13,939,720 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,421,028...14,434,216
Ensembl chr  X:14,421,109...14,433,982 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:141,793,695...141,795,558 JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: BATHING EPILEPSY, X-LINKED | ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome OMIM
ClinVar		 PMID:9536098 PMID:14985377 PMID:15071120 PMID:16199547 PMID:17576681 More... NCBI chr  X:1,172,208...1,227,400
Ensembl chr  X:1,172,208...1,227,396 		JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275 		JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571 		JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,596,330...14,603,491
Ensembl chr  X:14,594,577...14,603,416 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:1,508,700...1,530,677
Ensembl chr  X:1,508,666...1,530,636 		JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:1,473,349...1,489,520
Ensembl chr  X:1,473,350...1,489,520 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:15,123,642...15,126,855
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
G Uxt ubiquitously-expressed, prefoldin-like chaperone ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,126,110...1,138,670
Ensembl chr  X:1,126,162...1,138,663 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,405,096...14,413,850
Ensembl chr  X:14,405,124...14,413,849 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,362,479...14,373,727
Ensembl chr  X:14,362,860...14,373,727 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:14,776,280...14,782,197
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698 		JBrowse link
G Zfp182 zinc finger protein 182 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:927,439...1,001,474
Ensembl chr  X:899,439...1,000,954 		JBrowse link
G Znf81L zinc finger protein 81 like ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,030,103...1,126,078
Ensembl chr  X:1,036,153...1,126,102 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Neurodevelopmental Disorders 6751
        learning disability 207
          X-linked epilepsy with variable learning disabilities and behavior disorders 64
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        central nervous system disease 12287
          brain disease 11531
            disease of mental health 8203
              developmental disorder of mental health 5446
                specific developmental disorder 4430
                  communication disorder 366
                    learning disability 207
                      X-linked epilepsy with variable learning disabilities and behavior disorders 64
paths to the root