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ONTOLOGY REPORT - ANNOTATIONS


Term:communication disorder
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Accession:DOID:2033 term browser browse the term
Definition:Disorders of verbal and nonverbal communication caused by receptive or expressive LANGUAGE DISORDERS, cognitive dysfunction (e.g., MENTAL RETARDATION), psychiatric conditions, and HEARING DISORDERS.
Synonyms:exact_synonym: Acquired Communication Disorder;   Acquired Communication Disorders;   Childhood Communication Disorder;   Childhood Communication Disorders;   Communication Disabilities;   Communication Disability;   Communicative Disorder;   Communicative Disorders;   Communicative Dysfunction;   Communicative Dysfunctions;   Developmental Communication Disorder;   Developmental Communication Disorders;   Neurogenic Communication Disorder;   Neurogenic Communication Disorders;   communication disorders
 primary_id: MESH:D003147;   RDO:0005250
 xref: NCI:C2958
For additional species annotation, visit the Alliance of Genome Resources.


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AGAT deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Duox1 dual oxidase 1 JBrowse link 3 114,251,794 114,286,827 RGD:8554872
G Duox2 dual oxidase 2 JBrowse link 3 114,218,187 114,237,808 RGD:8554872
G Duoxa1 dual oxidase maturation factor 1 JBrowse link 3 114,241,057 114,251,720 RGD:8554872
G Duoxa2 dual oxidase maturation factor 2 JBrowse link 3 114,236,718 114,240,086 RGD:8554872
G Gatm glycine amidinotransferase JBrowse link 3 114,711,570 114,728,155 RGD:7240710
RGD:8554872
G Shf Src homology 2 domain containing F JBrowse link 3 114,288,021 114,307,334 RGD:8554872
G Slc28a2 solute carrier family 28 member 2 JBrowse link 3 114,355,003 114,647,382 RGD:8554872
G Sord sorbitol dehydrogenase JBrowse link 3 114,176,127 114,207,368 RGD:8554872
G Terb2 telomere repeat binding bouquet formation protein 2 JBrowse link 3 114,129,387 114,147,943 RGD:8554872
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:11554173
RGD:8554872
aphasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:11554173
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11554173
apraxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link 14 108,826,717 108,921,197 RGD:11554173
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11554173
RGD:8554872
articulation disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:11529633
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11535989
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:7240710
RGD:8554872
RGD:10054301
RGD:10054300
RGD:1599207
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:8554872
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 JBrowse link 10 55,013,686 55,078,986 RGD:7240710
RGD:8554872
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdxr ferredoxin reductase JBrowse link 10 103,817,724 103,826,413 RGD:8554872
RGD:7240710
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph3 diaphanous-related formin 3 JBrowse link 15 69,928,507 70,400,077 RGD:7240710
RGD:8554872
autosomal dominant mental retardation 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mef2c myocyte enhancer factor 2C JBrowse link 2 11,658,534 11,822,788 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872
RGD:11554173
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm8a1 translocase of inner mitochondrial membrane 8A1 JBrowse link X 105,351,714 105,355,722 RGD:13209130
RGD:11554173
RGD:8554872
RGD:7240710
RGD:13209136
RGD:13209134
Dysarthria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy5 adenylate cyclase 5 JBrowse link 11 68,695,839 68,842,452 RGD:8554872
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:1580361
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:11554173
G Pde8b phosphodiesterase 8B JBrowse link 2 24,718,548 24,955,533 RGD:11554173
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 14 60,657,730 60,687,950 RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
dyslexia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcdc2 doublecortin domain containing 2 JBrowse link 17 41,838,201 42,031,265 RGD:12910971
RGD:12910976
RGD:12910975
RGD:12910973
RGD:11532935
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:8554872
RGD:11554173
RGD:7240710
G Drd4 dopamine receptor D4 JBrowse link 1 214,278,296 214,282,818 RGD:13209014
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11535997
G Ncan neurocan JBrowse link 16 21,050,243 21,076,707 RGD:8554872
G RGD1307443 similar to mKIAA0319 protein JBrowse link 17 42,163,245 42,226,725 RGD:7240710
Familial Persistent Stuttering 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 JBrowse link 3 119,484,714 119,548,491 RGD:7240710
RGD:8554872
Familial Persistent Stuttering 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase JBrowse link 10 10,573,191 10,581,516 RGD:8554872
Fitzsimmons-Guilbert Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 transducin (beta)-like 1 X-linked receptor 1 JBrowse link 2 107,221,913 107,359,229 RGD:8554872
Focal Epilepsy with Speech Disorder and with or without Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:7240710
RGD:8554872
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:8554872
G Itsn2 intersectin 2 JBrowse link 6 30,098,378 30,208,694 RGD:8554872
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
guanidinoacetate methyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gamt guanidinoacetate N-methyltransferase JBrowse link 7 12,314,848 12,317,998 RGD:7240710
RGD:8554872
RGD:11554173
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 7 12,318,776 12,326,403 RGD:8554872
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pak1 p21 (RAC1) activated kinase 1 JBrowse link 1 162,768,156 162,883,356 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl11b BAF chromatin remodeling complex subunit BCL11B JBrowse link 6 131,834,097 131,927,251 RGD:8554872
RGD:7240710
intellectual disability-severe speech delay-mild dysmorphism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:7240710
RGD:8554872
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnb5 G protein subunit beta 5 JBrowse link 8 82,248,951 82,286,493 RGD:8554872
RGD:7240710
Language Development Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actl6a actin-like 6A JBrowse link 2 119,112,776 119,128,870 RGD:8554872
G Adar adenosine deaminase, RNA-specific JBrowse link 2 189,045,551 189,085,448 RGD:8554872
G Ahctf1 AT hook containing transcription factor 1 JBrowse link 13 98,023,528 98,079,138 RGD:8554872
G Ahdc1 AT hook, DNA binding motif, containing 1 JBrowse link 5 151,209,894 151,277,192 RGD:8554872
G Asf1a anti-silencing function 1A histone chaperone JBrowse link 20 34,894,419 34,909,265 RGD:8554872
G Asxl1 ASXL transcriptional regulator 1 JBrowse link 3 148,832,231 148,902,356 RGD:8554872
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link 14 108,826,717 108,921,197 RGD:11554173
G Bptf bromodomain PHD finger transcription factor JBrowse link 10 95,248,573 95,350,162 RGD:8554872
G Calhm4 calcium homeostasis modulator family member 4 JBrowse link 20 27,573,809 27,578,269 RGD:8554872
G Calhm5 calcium homeostasis modulator family member 5 JBrowse link 20 27,651,817 27,673,817 RGD:8554872
G Calhm6 calcium homeostasis modulator family member 6 JBrowse link 20 27,681,138 27,683,580 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:11554173
G Col10a1 collagen type X alpha 1 chain JBrowse link 20 41,180,295 41,190,664 RGD:8554872
G Dcbld1 discoidin, CUB and LCCL domain containing 1 JBrowse link 20 33,359,062 33,455,161 RGD:8554872
G Deaf1 DEAF1 transcription factor JBrowse link 1 214,283,787 214,317,466 RGD:8554872
G Dpyd dihydropyrimidine dehydrogenase JBrowse link 2 221,823,692 222,694,627 RGD:11554173
G Dse dermatan sulfate epimerase JBrowse link 20 27,703,738 27,784,982 RGD:8554872
G Erf Ets2 repressor factor JBrowse link 1 82,112,449 82,120,902 RGD:11554173
G Fam184a family with sequence similarity 184, member A JBrowse link 20 34,935,029 35,054,806 RGD:8554872
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:8554872
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11554173
G Frk fyn-related Src family tyrosine kinase JBrowse link 20 41,266,408 41,383,731 RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Gnb5 G protein subunit beta 5 JBrowse link 8 82,248,951 82,286,493 RGD:8554872
G Gopc golgi associated PDZ and coiled-coil motif containing JBrowse link 20 33,471,355 33,521,281 RGD:8554872
G Gprc6a G protein-coupled receptor, class C, group 6, member A JBrowse link 20 32,607,653 32,628,953 RGD:8554872
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:11554173
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:8554872
G Hdac2 histone deacetylase 2 JBrowse link 20 43,084,870 43,108,198 RGD:8554872
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:8554872
G Hs3st5 heparan sulfate-glucosamine 3-sulfotransferase 5 JBrowse link 20 40,236,437 40,545,502 RGD:8554872
G Kcna2 potassium voltage-gated channel subfamily A member 2 JBrowse link 2 209,838,607 209,852,471 RGD:11554173
G Kif4a kinesin family member 4A JBrowse link X 70,461,700 70,561,084 RGD:8554872
G Kmt5b lysine methyltransferase 5B JBrowse link 1 219,000,844 219,050,211 RGD:8554872
G Kpna5 karyopherin subunit alpha 5 JBrowse link 20 32,509,573 32,573,591 RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Man1a1 mannosidase, alpha, class 1A, member 1 JBrowse link 20 35,257,688 35,450,132 RGD:8554872
G Marcks myristoylated alanine rich protein kinase C substrate JBrowse link 20 42,966,140 42,971,838 RGD:8554872
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor JBrowse link 20 34,818,093 34,930,157 RGD:8554872
G Mcoln1 mucolipin 1 JBrowse link 12 2,054,629 2,068,682 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Med13l mediator complex subunit 13-like JBrowse link 12 43,421,317 43,576,859 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Nol11 nucleolar protein 11 JBrowse link 10 95,388,223 95,408,053 RGD:8554872
G Nrxn1 neurexin 1 JBrowse link 6 13,886,757 15,191,660 RGD:11554173
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:8554872
G Nt5dc1 5'-nucleotidase domain containing 1 JBrowse link 20 41,106,990 41,209,765 RGD:8554872
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit JBrowse link 20 33,557,052 33,584,011 RGD:8554872
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
G Pura purine rich element binding protein A JBrowse link 18 29,104,712 29,114,918 RGD:8554872
G Rfpl4b ret finger protein-like 4B JBrowse link 20 43,929,386 43,955,762 RGD:8554872
G Rfx6 regulatory factor X, 6 JBrowse link 20 32,709,282 32,764,040 RGD:8554872
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase JBrowse link 20 33,100,190 33,323,544 RGD:8554872
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:8554872
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:8554872
G Rwdd1 RWD domain containing 1 JBrowse link 20 27,534,361 27,552,225 RGD:8554872
G Setbp1 SET binding protein 1 JBrowse link 18 75,090,733 75,432,446 RGD:11554173
G Shank3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 7 130,474,278 130,534,679 RGD:11554173
G Slc35f1 solute carrier family 35, member F1 JBrowse link 20 33,772,314 34,420,970 RGD:8554872
G Stat1 signal transducer and activator of transcription 1 JBrowse link 9 54,287,540 54,327,958 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:8554872
G Trappc3l trafficking protein particle complex 3-like JBrowse link 20 27,578,268 27,664,689 RGD:8554872
G Tspyl1 TSPY-like 1 JBrowse link 20 41,083,317 41,085,876 RGD:8554872
G Tspyl4 TSPY-like 4 JBrowse link 20 41,100,071 41,102,067 RGD:8554872
G Ube3a ubiquitin protein ligase E3A JBrowse link 1 116,586,901 116,678,161 RGD:8554872
G Vars1 valyl-tRNA synthetase 1 JBrowse link 20 4,993,539 5,008,259 RGD:8554872
G Vgll2 vestigial-like family member 2 JBrowse link 20 33,077,106 33,082,962 RGD:8554872
G Zup1 zinc finger containing ubiquitin peptidase 1 JBrowse link 20 32,471,670 32,501,693 RGD:8554872
language disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankk1 ankyrin repeat and kinase domain containing 1 JBrowse link 8 53,750,631 53,758,925 RGD:11554173
G Drd2 dopamine receptor D2 JBrowse link 8 53,678,777 53,743,643 RGD:11554173
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11535993
learning disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ache acetylcholinesterase JBrowse link 12 22,472,358 22,477,052 RGD:11554173
G Adar adenosine deaminase, RNA-specific JBrowse link 2 189,045,551 189,085,448 RGD:8554872
G Apod apolipoprotein D JBrowse link 11 72,705,204 72,726,263 RGD:11554173
G App amyloid beta precursor protein JBrowse link 11 24,425,013 24,641,872 RGD:11554173
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:11554173
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:13450914
G Dbn1 drebrin 1 JBrowse link 17 9,679,511 9,693,878 RGD:10398819
G Elavl4 ELAV like RNA binding protein 4 JBrowse link 5 130,001,387 130,144,557 RGD:9685325
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:11566045
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 JBrowse link 10 42,441,723 42,760,200 RGD:11554173
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Htr1a 5-hydroxytryptamine receptor 1A JBrowse link 2 36,246,628 36,247,896 RGD:11554173
G Htr7 5-hydroxytryptamine receptor 7 JBrowse link 1 254,547,964 254,671,811 RGD:11554173
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:12791267
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:7175060
RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829733
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 JBrowse link X 22,212,137 22,293,810 RGD:8554872
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:11554173
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:11554173
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:11554173
G Micu1 mitochondrial calcium uptake 1 JBrowse link 20 29,284,833 29,433,617 RGD:11554173
G Mir124-3 microRNA 124-3 JBrowse link 3 176,406,205 176,406,291 RGD:11554173
G Mt1 metallothionein 1 JBrowse link 19 11,301,991 11,303,007 RGD:11554173
G Mt2A metallothionein 2A JBrowse link 19 11,307,966 11,308,740 RGD:11554173
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:1302541
RGD:11554173
G Ntf4 neurotrophin 4 JBrowse link 1 101,405,314 101,408,145 RGD:737722
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:12790586
G Pde1b phosphodiesterase 1B JBrowse link 7 145,117,951 145,147,711 RGD:11554173
G Pnoc prepronociceptin JBrowse link 15 48,805,841 48,833,071 RGD:11554173
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:11554173
G Prkn parkin RBR E3 ubiquitin protein ligase JBrowse link 1 48,880,015 50,069,998 RGD:11554173
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:11554173
G Sigmar1 sigma non-opioid intracellular receptor 1 JBrowse link 5 58,121,824 58,124,687 RGD:11554173
G Slc17a6 solute carrier family 17 member 6 JBrowse link 1 106,980,463 107,038,717 RGD:11554173
G Slc17a7 solute carrier family 17 member 7 JBrowse link 1 101,161,265 101,172,292 RGD:11554173
G Syp synaptophysin JBrowse link X 15,694,699 15,709,244 RGD:11554173
G Th tyrosine hydroxylase JBrowse link 1 216,073,034 216,080,287 RGD:11554173
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:11554173
G Trh thyrotropin releasing hormone JBrowse link 4 124,110,716 124,113,242 RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11554173
Luscan-Lumish syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Setd2 SET domain containing 2, histone lysine methyltransferase JBrowse link 8 118,802,478 118,888,224 RGD:8554872
RGD:7240710
Miles-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173
RGD:8554872
RGD:7240710
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla8 patatin-like phospholipase domain containing 8 JBrowse link 6 64,224,870 64,288,465 RGD:8554872
RGD:7240710
mutism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:13450911
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp2ca protein phosphatase 2 catalytic subunit alpha JBrowse link 10 37,534,449 37,554,861 RGD:7240710
RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 9 60,451,476 60,843,160 RGD:8554872
RGD:7240710
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp142 zinc finger protein 142 JBrowse link 9 81,844,138 81,868,086 RGD:7240710
RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhps deoxyhypusine synthase JBrowse link 19 26,184,665 26,188,755 RGD:7240710
RGD:8554872
Oculomotor Apraxia, Cogan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G Tgm6 transglutaminase 6 JBrowse link 3 122,644,183 122,680,054 RGD:8554872
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csnk2a1 casein kinase 2 alpha 1 JBrowse link 3 147,713,808 147,760,375 RGD:8554872
RGD:7240710
Popov-Chang Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta JBrowse link 7 75,573,553 75,598,295 RGD:8554872
Primary Progressive Aphasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grn granulin precursor JBrowse link 10 90,377,103 90,383,207 RGD:8554872
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:8554872
Primary Progressive Nonfluent Aphasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbk1 TANK-binding kinase 1 JBrowse link 7 63,655,247 63,687,978 RGD:8554872
reading disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:13450919
Riddle syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf168 ring finger protein 168 JBrowse link 11 71,721,242 71,743,421 RGD:7240710
RGD:8554872
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:8554872
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srpx2 sushi-repeat-containing protein, X-linked 2 JBrowse link X 104,734,035 104,760,658 RGD:7240710
RGD:8554872
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8694285
RGD:8694282
G Prickle2 prickle planar cell polarity protein 2 JBrowse link 4 124,238,167 124,584,176 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:11554173
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link 10 55,943,467 55,970,417 RGD:7240710
RGD:8554872
Social Communication Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabra5 gamma-aminobutyric acid type A receptor alpha 5 subunit JBrowse link 1 112,833,941 112,947,482 RGD:11554173
specific language impairment term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:13450918
G Tm4sf20 transmembrane 4 L six family member 20 JBrowse link 9 88,521,193 88,534,710 RGD:13592920
Specific Language Impairment 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tm4sf20 transmembrane 4 L six family member 20 JBrowse link 9 88,521,193 88,534,710 RGD:7240710
RGD:8554872
speech disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:11554173
G Mfsd2a major facilitator superfamily domain containing 2A JBrowse link 5 140,642,865 140,657,759 RGD:11554173
G Ttpa alpha tocopherol transfer protein JBrowse link 5 34,007,926 34,029,315 RGD:11554173
speech-language disorder-1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh18 cadherin 18 JBrowse link 2 73,651,408 74,693,342 RGD:8554872
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:7240710
RGD:8554872
RGD:11072822
RGD:11536000
RGD:11526862
RGD:11526702
RGD:11070093
G Immp2l inner mitochondrial membrane peptidase subunit 2 JBrowse link 6 60,958,351 61,859,457 RGD:8554872
G Lrrn3 leucine rich repeat neuronal 3 JBrowse link 6 61,374,328 61,405,195 RGD:8554872
G Zgrf1 zinc finger, GRF-type containing 1 JBrowse link 2 231,881,893 231,944,760 RGD:8554872
Stormorken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stim1 stromal interaction molecule 1 JBrowse link 1 167,373,894 167,533,412 RGD:7240710
RGD:8554872
stuttering term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 JBrowse link 3 119,484,714 119,548,491 RGD:13592920
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:11554173
Worster Drought Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 JBrowse link 15 109,338,762 109,394,905 RGD:8554872
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syn1 synapsin I JBrowse link X 1,321,315 1,379,202 RGD:7240710
RGD:8554872
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Neurodevelopmental Disorders 4072
        communication disorder 212
          Childhood-Onset Fluency Disorder 0
          Social Communication Disorder 1
          agnosia + 20
          language disorder + 136
          learning disability + 74
          mixed receptive-expressive language disorder 0
          speech disorder + 49
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          brain disease 7571
            disease of mental health 5520
              developmental disorder of mental health 2712
                specific developmental disorder 1884
                  communication disorder 212
                    Childhood-Onset Fluency Disorder 0
                    Social Communication Disorder 1
                    agnosia + 20
                    language disorder + 136
                    learning disability + 74
                    mixed receptive-expressive language disorder 0
                    speech disorder + 49
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.