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: learning disability
Accession: DOID:8927
browse the term
Definition: A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. (DO)
Synonyms: exact_synonym: Developmental Academic Disorder; Developmental Academic Disorders; Developmental Disorders of Scholastic Skills; Learning Disabilities; Learning Disorder; Learning Disorders; Learning Disturbance; Learning Disturbances; academic skill disorder; adult learning disorder; adult learning disorders; scholastic skills development disorders
narrow_synonym: specific learning disability
primary_id: MESH:D007859
xref: ICD10CM:F81.9 ; NCI:C89334
For additional species annotation, visit the
Alliance of Genome Resources .
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Ache
acetylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18533140
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
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Adar
adenosine deaminase, RNA-specific
ISO
ClinVar Annotator: match by term: Specific learning disability
ClinVar
PMID:25741868
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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Apod
apolipoprotein D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18419796
NCBI chr11:69,431,261...69,452,306
Ensembl chr11:69,431,260...69,452,305
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App
amyloid beta precursor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16474004 PMID:18533140 PMID:20816828 PMID:22484447 PMID:25213453 PMID:26420483 PMID:27306655 PMID:29729307 PMID:35247505 More...
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17967740
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Specific learning disability
ClinVar
PMID:25741868
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Camkmt
calmodulin-lysine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247364
NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
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Cntnap2
contactin associated protein 2
ISO
RGD
PMID:26873041
RGD:13450914
NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
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Dbn1
drebrin 1
ISO
RGD
PMID:19837137
RGD:10398819
NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984
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Elavl4
ELAV like RNA binding protein 4
IEP
RGD
PMID:23545166
RGD:9685325
NCBI chr 5:125,056,848...125,200,543
Ensembl chr 5:125,056,848...125,200,446
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Fibp
FGF1 intracellular binding protein
ISO
ClinVar Annotator: match by term: Learning disability
ClinVar
PMID:26660953
NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
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Ghr
growth hormone receptor
ISO
associated with Diabetes Mellitus, Experimental; mRNA:increased expression:prefrontal cortex: ClinVar Annotator: match by term: Specific learning disability
ClinVar RGD
PMID:10984309 PMID:25741868 PMID:28492532 PMID:22750159
RGD:11566045
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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Gria1
glutamate ionotropic receptor AMPA type subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16495937
NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11718997
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Htr1a
5-hydroxytryptamine receptor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12591222
NCBI chr 2:36,693,462...36,698,026
Ensembl chr 2:36,694,174...36,695,442
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Htr7
5-hydroxytryptamine receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21859099
NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:233,636,452...233,760,626
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
associated with Incontinentia Pigmenti;DNA:deletion:exons:
RGD
PMID:24489960
RGD:12791267
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21290410
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
rat model treated with human protein CTD Direct Evidence: therapeutic
CTD RGD
PMID:25665855 PMID:10751560
RGD:7175060
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il6
interleukin 6
disease_progression
ISO
RGD
PMID:9037082
RGD:7829733
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Iqsec2
IQ motif and Sec7 domain ArfGEF 2
ISO
ClinVar Annotator: match by term: Specific learning disability
ClinVar
PMID:25741868 PMID:28492532 PMID:30206421 PMID:35347702
NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25309793
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Mapt
microtubule-associated protein tau
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24556215
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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Mecp2
methyl CpG binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19921286
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Meis2
Meis homeobox 2
ISO
DNA:mutations, haplotype insufficiency: :
RGD
PMID:24678003
RGD:155598680
NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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Micu1
mitochondrial calcium uptake 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24336167
NCBI chr20:27,668,681...27,816,322
Ensembl chr20:27,668,747...27,814,964
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Mir124-3
microRNA 124-3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28867212
NCBI chr 3:168,014,952...168,015,038
Ensembl chr 3:168,014,952...168,015,038
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Mt1
metallothionein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16216453
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049
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Mt2A
metallothionein 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16216453
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21949590 PMID:11279521
RGD:1302541
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Ntf4
neurotrophin 4
ISO
RGD
PMID:10869436
RGD:737722
NCBI chr 1:95,893,560...95,896,391
Ensembl chr 1:95,893,457...95,897,243
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Otud7a
OTU deubiquitinase 7A
ISO
ClinVar Annotator: match by term: Specific learning disability
ClinVar
PMID:31997314
NCBI chr 1:117,064,428...117,388,217
Ensembl chr 1:117,064,496...117,386,480
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Pafah1b1
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1
ISO
RGD
PMID:10541472
RGD:12790586
NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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Pde1b
phosphodiesterase 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12077213
NCBI chr 7:134,627,378...134,654,581
Ensembl chr 7:134,627,322...134,654,580
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Pnoc
prepronociceptin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10401555
NCBI chr15:39,624,635...39,652,463
Ensembl chr15:39,624,641...39,651,867
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Por
cytochrome p450 oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21987461
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12915482
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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Psen1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25213453
NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Specific learning disability
ClinVar
PMID:11992261 PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 PMID:20301557 PMID:21533187 PMID:24033266 PMID:24935154 PMID:25741868 PMID:28492532 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Specific learning disability
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Sigmar1
sigma non-opioid intracellular receptor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15451042
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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Slc17a6
solute carrier family 17 member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21295146
NCBI chr 1:101,212,489...101,252,543
Ensembl chr 1:101,212,489...101,252,542
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Slc17a7
solute carrier family 17 member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21295146
NCBI chr 1:95,649,709...95,661,591
Ensembl chr 1:95,649,745...95,661,588
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Syp
synaptophysin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21295146
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
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Th
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9822156 PMID:10984662
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29107071
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Trh
thyrotropin releasing hormone
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8405091
NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20801723
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Ywhag
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ISO
ClinVar Annotator: match by term: Specific learning disability
ClinVar
NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827
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Rnf135
ring finger protein 135
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
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Aptr
Alu-mediated CDKN1A/p21 transcriptional regulator
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr 4:14,138,275...14,139,577
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Ccdc146
coiled-coil domain containing 146
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr 4:13,662,766...13,811,619
Ensembl chr 4:13,662,766...13,811,608
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Ccl24
C-C motif chemokine ligand 24
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
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Ccl26
C-C motif chemokine ligand 26
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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Dtx2
deltex E3 ubiquitin ligase 2
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:20,643,289...20,682,908
Ensembl chr12:20,643,297...20,682,885
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Fgl2
fibrinogen-like 2
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr 4:13,710,566...13,716,207
Ensembl chr 4:13,710,575...13,716,207
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Gsap
gamma-secretase activating protein
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr 4:13,813,046...13,907,875
Ensembl chr 4:13,813,046...13,907,814
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Hip1
huntingtin interacting protein 1
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:21,133,364...21,267,796
Ensembl chr12:21,133,406...21,267,725
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Hspb1
heat shock protein family B (small) member 1
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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Magi2
membrane associated guanylate kinase, WW and PDZ domain containing 2
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr 4:14,386,389...15,870,036
Ensembl chr 4:14,386,399...15,870,240
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Mdh2
malate dehydrogenase 2
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271
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Phtf2
putative homeodomain transcription factor 2
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr 4:14,215,190...14,330,549
Ensembl chr 4:14,215,263...14,330,513
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Por
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Ptpn12
protein tyrosine phosphatase, non-receptor type 12
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr 4:14,020,997...14,092,931
Ensembl chr 4:14,021,052...14,092,927
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Rcc1l
RCC1 like
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:22,543,125...22,574,042
Ensembl chr12:22,543,734...22,574,036
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Rhbdd2
rhomboid domain containing 2
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:21,043,605...21,054,305
Ensembl chr12:21,043,608...21,054,289
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Rsbn1l
round spermatid basic protein 1-like
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr 4:14,138,076...14,203,972
Ensembl chr 4:14,139,031...14,201,147
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Srrm3
serine/arginine repetitive matrix 3
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:20,808,878...20,878,557
Ensembl chr12:20,809,089...20,878,505
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Ssc4d
scavenger receptor cysteine rich family member with 4 domains
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:20,702,931...20,723,732
Ensembl chr12:20,702,950...20,718,706
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Styxl1
serine/threonine/tyrosine interacting-like 1
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:20,907,410...20,940,232
Ensembl chr12:20,907,435...20,939,752
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Tmem120a
transmembrane protein 120A
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:20,942,243...20,950,908
Ensembl chr12:20,942,439...20,990,316
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Tmem60
transmembrane protein 60
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr 4:14,210,029...14,214,884
Ensembl chr 4:14,210,029...14,215,063
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Upk3b
uroplakin 3B
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:20,630,231...20,637,634
Ensembl chr12:20,631,525...20,637,724
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Ywhag
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827
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Zp3
zona pellucida glycoprotein 3
ISO
ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
ClinVar
NCBI chr12:20,690,547...20,697,513
Ensembl chr12:20,690,547...20,697,513
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Adam12
ADAM metallopeptidase domain 12
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:188,686,984...189,014,206
Ensembl chr 1:188,686,989...189,020,667
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Adam8
ADAM metallopeptidase domain 8
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,776,559...194,789,330
Ensembl chr 1:194,770,060...194,788,801
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Adgra1
adhesion G protein-coupled receptor A1
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,629,744...194,673,254
Ensembl chr 1:194,629,726...194,672,550
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Bnip3
BCL2 interacting protein 3
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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C1h10orf90
similar to human chromosome 10 open reading frame 90
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:189,059,744...189,293,353
Ensembl chr 1:189,059,746...189,293,435
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Caly
calcyon neuron-specific vesicular protein
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,862,671...194,873,861
Ensembl chr 1:194,862,672...194,873,551
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Cfap46
cilia and flagella associated protein 46
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,403,212...194,482,790
Ensembl chr 1:194,403,211...194,482,730
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Clrn3
clarin 3
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:190,319,025...190,334,648
Ensembl chr 1:190,319,026...190,334,648
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Dhx32
DEAH-box helicase 32 (putative)
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:188,524,512...188,577,500
Ensembl chr 1:188,524,512...188,577,500
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Dock1
dedicator of cyto-kinesis 1
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768
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Dpysl4
dihydropyrimidinase-like 4
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:193,883,039...193,898,916
Ensembl chr 1:193,883,106...193,898,914
G
Ebf3
EBF transcription factor 3
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359
G
Echs1
enoyl-CoA hydratase, short chain 1
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,895,036...194,903,863
Ensembl chr 1:194,895,036...194,903,884
G
Fank1
fibronectin type III and ankyrin repeat domains 1
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:188,577,512...188,685,501
Ensembl chr 1:188,577,575...188,685,504
G
Foxi2
forkhead box I2
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:190,222,857...190,226,657
Ensembl chr 1:190,222,703...190,226,433
G
Fuom
fucose mutarotase
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,888,535...194,893,046
Ensembl chr 1:194,886,709...194,893,046
G
Glrx3
glutaredoxin 3
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:192,241,707...192,272,012
Ensembl chr 1:192,241,701...192,272,010
G
Inpp5a
inositol polyphosphate-5-phosphatase A
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,190,086...194,380,429
Ensembl chr 1:194,190,393...194,380,428
G
Insyn2a
inhibitory synaptic factor 2A
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:189,697,856...189,753,194
Ensembl chr 1:189,697,878...189,752,922
G
Jakmip3
janus kinase and microtubule interacting protein 3
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:193,753,134...193,881,105
Ensembl chr 1:193,811,513...193,881,104
G
Kndc1
kinase non-catalytic C-lobe domain containing 1
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,689,962...194,738,353
Ensembl chr 1:194,690,135...194,738,362
G
Lrrc27
leucine rich repeat containing 27
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,004,967...194,035,087
Ensembl chr 1:194,005,182...194,035,084
G
Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
G
Mki67
marker of proliferation Ki-67
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
G
Mtg1
mitochondrial ribosome-associated GTPase 1
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,931,543...194,944,278
Ensembl chr 1:194,931,531...194,944,277
G
Nkx6-2
NK6 homeobox 2
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,380,149...194,383,533
Ensembl chr 1:194,381,975...194,383,515
G
Nps
neuropeptide S
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:190,077,040...190,080,821
Ensembl chr 1:190,077,040...190,080,821
G
Paox
polyamine oxidase
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,919,655...194,928,498
Ensembl chr 1:194,903,273...194,928,504
G
Ppp2r2d
protein phosphatase 2, regulatory subunit B, delta
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:193,665,918...193,700,277
Ensembl chr 1:193,665,855...193,700,274
G
Prap1
proline-rich acidic protein 1
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,883,078...194,886,874
Ensembl chr 1:194,883,078...194,886,872
G
Ptpre
protein tyrosine phosphatase, receptor type, E
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:190,344,331...190,494,815
Ensembl chr 1:190,344,401...190,489,534
G
Pwwp2b
PWWP domain containing 2B
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,040,395...194,059,979
Ensembl chr 1:194,041,341...194,059,958
G
Sprn
shadow of prion protein
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,944,602...194,948,448
Ensembl chr 1:194,943,826...194,948,460
G
Stk32c
serine/threonine kinase 32C
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:193,900,718...193,981,723
Ensembl chr 1:193,900,718...193,981,723
G
Syce1
synaptonemal complex central element protein 1
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:195,852,171...195,863,174
Ensembl chr 1:195,852,172...195,863,174
G
Tcerg1l
transcription elongation regulator 1-like
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:193,012,937...193,201,860
Ensembl chr 1:193,012,937...193,200,913
G
Tubgcp2
tubulin gamma complex component 2
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,791,113...194,817,807
Ensembl chr 1:194,792,142...194,817,619
G
Utf1
undifferentiated embryonic cell transcription factor 1
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,740,339...194,741,465
Ensembl chr 1:194,740,339...194,741,465
G
Ventx
VENT homeobox
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr X:86,483,893...86,484,900
Ensembl chr X:86,483,893...86,484,954
G
Zfp511
zinc finger protein 511
ISO
ClinVar Annotator: match by term: Distal 10q deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:194,817,697...194,822,102
Ensembl chr 1:194,817,697...194,822,102
G
Dcdc2
doublecortin domain containing 2
susceptibility
ISO
DNA:snps:multiple (human) DNA:deletion, snps:introns:multiple (human) DNA:snps:introns:c.558-3950G>C, c.1326+252C>T (human) (rs1091047, rs1419228) DNA:snp:intron:c.760-430G>A (human) (rs807724)
RGD
PMID:22750057 PMID:25130614 PMID:19238550 PMID:20068590 PMID:27100778
RGD:12910971 , RGD:12910976 , RGD:12910975 , RGD:12910973 , RGD:11532935
NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743
G
Dnaaf4
dynein axonemal assembly factor 4
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dyslexia, susceptibility to, 1
CTD OMIM ClinVar
PMID:12954984 PMID:23872636 PMID:24033266 PMID:25186273 PMID:25741868 PMID:28492532 PMID:30290127 PMID:33760720 More...
NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
G
Drd4
dopamine receptor D4
ISO
DNA:duplication:exon:g.2689_2737dup (human)
RGD
PMID:14755455
RGD:13209014
NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
G
Foxp2
forkhead box P2
no_association
ISO
DNA:SNP: :rs12533005 (human) DNA:SNPs: :multiple
RGD
PMID:21897444 PMID:21897444
RGD:11535997 , RGD:11535997
NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683
G
Ncan
neurocan
ISO
ClinVar Annotator: match by term: Developmental dyslexia
ClinVar
PMID:28839234
NCBI chr16:19,301,969...19,328,436
Ensembl chr16:19,301,969...19,328,436
G
Slc6a3
solute carrier family 6 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35940320
NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
G
Cntnap2
contactin associated protein 2
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:21165691
RGD:13450919
NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
G
Rnf168
ring finger protein 168
ISO ISS
OMIM:611943 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: RIDDLE syndrome
OMIM MouseDO CTD ClinVar
PMID:19203578 PMID:21394101 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr11:68,486,313...68,508,296
Ensembl chr11:68,486,321...68,508,277
G
Pgap2
post-GPI attachment to proteins 2
ISO
ClinVar Annotator: match by term: Stormorken syndrome
ClinVar
PMID:28492532
NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114
G
Rhog
ras homolog family member G
ISO
ClinVar Annotator: match by term: Stormorken syndrome
ClinVar
PMID:28492532
NCBI chr 1:156,618,713...156,630,710
Ensembl chr 1:156,615,349...156,631,257
G
Stim1
stromal interaction molecule 1
ISO ISS
OMIM:185070 ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS
OMIM MouseDO ClinVar
PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 PMID:12944248 PMID:16199547 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 PMID:22190180 PMID:23332920 PMID:23851458 PMID:24033266 PMID:24492416 PMID:24570283 PMID:24591628 PMID:24619930 PMID:24621671 PMID:25044882 PMID:25326555 PMID:25577287 PMID:25640679 PMID:25741868 PMID:25918394 PMID:26184105 PMID:26255678 PMID:26436962 PMID:27066587 PMID:27239559 PMID:28492532 PMID:28624464 PMID:29237733 PMID:31844136 PMID:32098964 PMID:33468626 PMID:33628209 PMID:34498097 PMID:35724962 More...
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
G
Gabra3
gamma-aminobutyric acid type A receptor subunit alpha 3
ISO
ClinVar Annotator: match by term: Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
OMIM ClinVar
PMID:25741868 PMID:27572814 PMID:29053855
NCBI chr X:150,244,745...150,501,566
Ensembl chr X:150,261,607...150,501,559
G
Mir105
microRNA 105
ISO
ClinVar Annotator: match by term: Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
ClinVar
PMID:29053855
NCBI chr X:150,438,529...150,438,601
Ensembl chr X:150,438,529...150,438,601
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
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
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
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
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
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
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
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
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
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:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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:1,872,582...1,916,704
Ensembl chr X:1,873,306...1,916,688
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
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
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
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
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
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
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...14,433,993
Ensembl chr X:14,421,109...14,433,982
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:141,792,589...141,795,257
G
Syn1
synapsin I
ISO
ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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:33526774 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
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
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
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
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
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
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
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
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:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912
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
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:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
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:14,362,484...14,373,727
Ensembl chr X:14,362,860...14,373,727
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...14,782,202
Ensembl chr X:14,776,293...14,782,202
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
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
G
Znf81
zinc finger protein 81
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all