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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:learning disability
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Accession:DOID:8927 term browser 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.



show annotations for term's descendants           Sort by:
 
learning disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18533140 NCBI chr12:19,407,359...19,413,713
Ensembl chr12:19,407,360...19,413,651
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16474004 PMID:18533140 PMID:20816828 PMID:22484447 PMID:25213453 More... NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12591222 NCBI chr 2:36,694,174...36,695,442
Ensembl chr 2:36,694,174...36,695,442
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Specific learning disability ClinVar PMID:25741868 NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584
JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:25309793 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:22430071 PMID:24556215 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G 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
JBrowse link
G Meis2 Meis homeobox 2 ISO DNA:mutations, haplotype insufficiency: : RGD PMID:24678003 RGD:155598680 NCBI chr 3:102,742,905...102,944,833
Ensembl chr 3:102,742,900...102,949,696
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25213453 NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Specific learning disability ClinVar PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 PMID:20301557 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Specific learning disability ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
JBrowse link
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Hip1 huntingtin interacting protein 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:21,133,319...21,267,796
Ensembl chr12:21,133,406...21,267,725
JBrowse link
G 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
JBrowse link
G 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 4:14,388,322...15,870,036
Ensembl chr 4:14,386,399...15,870,240
JBrowse link
G 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
JBrowse link
G 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...14,330,513
Ensembl chr 4:14,215,263...14,330,513
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Upk3b uroplakin 3B ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr12:20,629,491...20,638,193
Ensembl chr12:20,631,525...20,637,724
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
distal 10q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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...192,114,713
Ensembl chr 1:191,996,730...192,114,359
JBrowse link
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
JBrowse link
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
JBrowse link
G Foxi2 forkhead box I2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:190,222,151...190,225,526
Ensembl chr 1:190,222,703...190,226,433
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G LOC100302465 hypothetical LOC100302465 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Paox polyamine oxidase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 1:194,903,267...194,928,504
Ensembl chr 1:194,903,273...194,928,504
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Tubgcp2 tubulin, gamma complex associated protein 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
dyslexia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 susceptibility ISO ClinVar Annotator: match by term: Dyslexia, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12954984 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G RGD1307443 similar to mKIAA0319 protein susceptibility ISO OMIM NCBI chr17:40,162,512...40,226,666
Ensembl chr17:40,165,084...40,225,653
JBrowse link
reading disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
Riddle syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf168 ring finger protein 168 ISO ClinVar Annotator: match by term: RIDDLE syndrome OMIM
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
JBrowse link
Stormorken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Stormorken syndrome OMIM
ClinVar
PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More... NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
JBrowse link
X-linked epilepsy with variable learning disabilities and behavior disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Araf A-Raf 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:1,227,392...1,292,356
Ensembl chr  X:1,227,392...1,239,073
JBrowse link
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,492,814...1,504,309
Ensembl chr  X:1,492,814...1,504,148
JBrowse link
G Jade3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,668,873...1,848,781
Ensembl chr  X:1,669,930...1,845,138
JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062
JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,540,399...1,572,571
Ensembl chr  X:1,540,398...1,572,575
JBrowse link
G Rgn regucalcin ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar 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: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,872,581...1,916,704
Ensembl chr  X:1,873,306...1,916,688
JBrowse link
G Syn1 synapsin I ISO 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 Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar 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: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar 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: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:1,473,349...1,489,520
Ensembl chr  X:1,473,350...1,489,520
JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698
JBrowse link
G Zfp819 zinc finger protein 819 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr 1:94,027,347...94,085,649
Ensembl chr 1:94,035,679...94,048,760
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18213
    Developmental Disease 13067
      Neurodevelopmental Disorders 6202
        learning disability 157
          Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 25
          Giacheti Syndrome 0
          Riddle syndrome 1
          Slavotinek Pike Mills Hurst Syndrome 0
          Specific Learning Disorder 0
          X-linked epilepsy with variable learning disabilities and behavior disorders 13
          chromosome 17q11.2 deletion syndrome 1
          distal 10q deletion syndrome 41
          dyscalculia 0
          reading disorder + 10
          writing disorder + 0
Path 2
Term Annotations click to browse term
  disease 18213
    disease of anatomical entity 17574
      nervous system disease 13207
        central nervous system disease 11363
          brain disease 10659
            disease of mental health 7548
              developmental disorder of mental health 4910
                specific developmental disorder 4170
                  communication disorder 299
                    learning disability 157
                      Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 25
                      Giacheti Syndrome 0
                      Riddle syndrome 1
                      Slavotinek Pike Mills Hurst Syndrome 0
                      Specific Learning Disorder 0
                      X-linked epilepsy with variable learning disabilities and behavior disorders 13
                      chromosome 17q11.2 deletion syndrome 1
                      distal 10q deletion syndrome 41
                      dyscalculia 0
                      reading disorder + 10
                      writing disorder + 0
paths to the root