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
Accession: DOID:0112122
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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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:21441247 PMID:23406870 PMID:23871722 PMID:24691301 PMID:25741868 PMID:25741869 PMID:26173895 PMID:26467025 PMID:27884173 PMID:28492532 PMID:28973667 PMID:30390306 PMID:31969655 PMID:32235935 PMID:34078716 PMID:34243774 PMID:36568968 More...
NCBI chr X:1,172,208...1,227,400
Ensembl chr X:1,172,208...1,227,396
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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