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ONTOLOGY REPORT - ANNOTATIONS


Term:non-syndromic intellectual disability
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Accession:DOID:0050889 term browser browse the term
Definition:An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. (DO)
Synonyms:primary_id: RDO:9004971
For additional species annotation, visit the Alliance of Genome Resources.


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non-syndromic intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Man1b1 mannosidase, alpha, class 1B, member 1 JBrowse link 3 2,547,259 2,569,051 RGD:13592920
G Trappc9 trafficking protein particle complex 9 JBrowse link 7 113,986,363 114,309,090 RGD:13592920
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
autosomal dominant mental retardation 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cic capicua transcriptional repressor JBrowse link 1 82,135,440 82,163,007 RGD:8554872
RGD:7240710
RGD:13592920
autosomal dominant mental retardation 46 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 JBrowse link 9 27,565,869 28,141,114 RGD:8554872
RGD:7240710
RGD:13592920
autosomal dominant mental retardation 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stag1 stromal antigen 1 JBrowse link 8 108,958,099 109,342,738 RGD:8554872
RGD:7240710
RGD:13592920
autosomal dominant mental retardation 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rac1 Rac family small GTPase 1 JBrowse link 12 13,090,316 13,111,841 RGD:8554872
RGD:7240710
RGD:13592920
autosomal dominant mental retardation 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip12 thyroid hormone receptor interactor 12 JBrowse link 9 92,305,059 92,435,388 RGD:8554872
RGD:7240710
RGD:13592920
autosomal dominant mental retardation 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit JBrowse link 2 140,471,437 140,534,259 RGD:8554872
RGD:7240710
RGD:13592920
autosomal dominant mental retardation 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt5b lysine methyltransferase 5B JBrowse link 1 219,000,844 219,050,211 RGD:8554872
RGD:7240710
RGD:13592920
autosomal dominant mental retardation 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ash1l ASH1 like histone lysine methyltransferase JBrowse link 2 188,252,592 188,389,251 RGD:8554872
RGD:7240710
RGD:13592920
autosomal dominant mental retardation 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camk2a calcium/calmodulin-dependent protein kinase II alpha JBrowse link 18 56,193,978 56,295,869 RGD:8554872
RGD:7240710
RGD:13592920
autosomal dominant mental retardation 54 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camk2b calcium/calmodulin-dependent protein kinase II beta JBrowse link 14 86,208,876 86,297,727 RGD:8554872
RGD:7240710
RGD:13592920
Autosomal Dominant Mental Retardation 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tlk2 tousled-like kinase 2 JBrowse link 10 93,410,181 93,507,277 RGD:8554872
RGD:7240710
Autosomal Dominant Mental Retardation 58 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Set SET nuclear proto-oncogene JBrowse link 19 58,420,635 58,422,153 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auts2 AUTS2, activator of transcription and developmental regulator JBrowse link 12 27,155,362 28,252,752 RGD:13592920
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
G Mbd5 methyl-CpG binding domain protein 5 JBrowse link 3 33,364,812 33,504,144 RGD:13592920
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:13592920
G Zfp462 zinc finger protein 462 JBrowse link 5 71,679,841 71,824,077 RGD:8554872
autosomal dominant non-syndromic intellectual disability 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvr2a activin A receptor type 2A JBrowse link 3 32,947,901 33,034,598 RGD:8554872
G Arhgap15 Rho GTPase activating protein 15 JBrowse link 3 28,626,987 29,236,225 RGD:8554872
G Epc2 enhancer of polycomb homolog 2 JBrowse link 3 33,641,616 33,741,219 RGD:8554872
G Gtdc1 glycosyltransferase-like domain containing 1 JBrowse link 3 29,410,426 29,705,981 RGD:8554872
G Kif5c kinesin family member 5C JBrowse link 3 35,014,157 35,257,417 RGD:8554872
G Kynu kynureninase JBrowse link 3 28,416,926 28,566,939 RGD:8554872
G Mbd5 methyl-CpG binding domain protein 5 JBrowse link 3 33,364,812 33,504,144 RGD:7240710
RGD:8554872
RGD:11554204
G Orc4 origin recognition complex, subunit 4 JBrowse link 3 33,034,913 33,075,833 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:8554872
autosomal dominant non-syndromic intellectual disability 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 JBrowse link 7 119,228,112 119,353,332 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epb41l1 erythrocyte membrane protein band 4.1-like 1 JBrowse link 3 152,492,725 152,622,047 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Creb3l4 cAMP responsive element binding protein 3-like 4 JBrowse link 2 189,596,657 189,602,243 RGD:8554872
G Crtc2 CREB regulated transcription coactivator 2 JBrowse link 2 189,615,928 189,625,646 RGD:8554872
G Dennd4b DENN domain containing 4B JBrowse link 2 189,626,922 189,642,732 RGD:8554872
G Gatad2b GATA zinc finger domain containing 2B JBrowse link 2 189,654,871 189,735,056 RGD:7240710
RGD:8554872
G Jtb jumping translocation breakpoint JBrowse link 2 189,591,707 189,595,926 RGD:8554872
G Nup210l nucleoporin 210-like JBrowse link 2 189,453,932 189,571,918 RGD:8554872
G Rab13 RAB13, member RAS oncogene family JBrowse link 2 189,581,209 189,586,358 RGD:8554872
G Rps27 ribosomal protein S27 JBrowse link 2 189,572,175 189,573,280 RGD:8554872
G Slc39a1 solute carrier family 39 member 1 JBrowse link 2 189,609,766 189,615,367 RGD:8554872
autosomal dominant non-syndromic intellectual disability 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camta1 calmodulin binding transcription activator 1 JBrowse link 5 168,138,207 169,017,295 RGD:8554872
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock8 dedicator of cytokinesis 8 JBrowse link 1 242,934,685 243,153,472 RGD:7240710
autosomal dominant non-syndromic intellectual disability 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctcf CCCTC-binding factor JBrowse link 19 37,600,151 37,649,674 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Setd5 SET domain containing 5 JBrowse link 4 145,017,549 145,095,247 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Deaf1 DEAF1 transcription factor JBrowse link 1 214,283,787 214,317,466 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auts2 AUTS2, activator of transcription and developmental regulator JBrowse link 12 27,155,362 28,252,752 RGD:8554872
RGD:7240710
RGD:11554173
autosomal dominant non-syndromic intellectual disability 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox11 SRY box 11 JBrowse link 6 46,629,967 46,631,988 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Setbp1 SET binding protein 1 JBrowse link 18 75,090,733 75,432,446 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh15 cadherin 15 JBrowse link 19 55,669,661 55,689,986 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zmynd11 zinc finger, MYND-type containing 11 JBrowse link 17 63,825,616 63,914,740 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pura purine rich element binding protein A JBrowse link 18 29,104,712 29,114,918 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kat6a lysine acetyltransferase 6A JBrowse link 16 73,942,669 74,020,750 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpp6 dipeptidyl peptidase like 6 JBrowse link 4 4,021,021 4,943,675 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3bp collagen type IV alpha 3 binding protein JBrowse link 2 27,365,145 27,469,797 RGD:7240710
RGD:8554872
G Polk DNA polymerase kappa JBrowse link 2 27,305,718 27,364,906 RGD:8554872
autosomal dominant non-syndromic intellectual disability 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mea1 male-enhanced antigen 1 JBrowse link 9 16,610,312 16,614,153 RGD:8554872
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta JBrowse link 9 16,580,995 16,610,425 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha JBrowse link 1 60,717,386 60,736,629 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myt1l myelin transcription factor 1-like JBrowse link 6 48,452,385 48,843,443 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kirrel3 kirre like nephrin family adhesion molecule 3 JBrowse link 8 35,692,525 36,254,755 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Champ1 chromosome alignment maintaining phosphoprotein 1 JBrowse link 16 80,839,373 80,850,340 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 41 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:11554173
RGD:7240710
autosomal dominant non-syndromic intellectual disability 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:11554173
RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hivep2 human immunodeficiency virus type I enhancer binding protein 2 JBrowse link 1 8,129,354 8,333,890 RGD:8554872
RGD:7240710
RGD:11554173
autosomal dominant non-syndromic intellectual disability 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trio trio Rho guanine nucleotide exchange factor JBrowse link 2 80,471,398 80,769,313 RGD:8554872
RGD:7240710
RGD:11554173
autosomal dominant non-syndromic intellectual disability 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A JBrowse link 11 34,858,339 34,958,733 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 3 2,507,745 2,534,664 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:7240710
RGD:8554872
autosomal recessive mental retardation 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rusc2 RUN and SH3 domain containing 2 JBrowse link 5 58,860,444 58,883,152 RGD:8554872
RGD:7240710
RGD:13592920
autosomal recessive non-syndromic intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ank3 ankyrin 3 JBrowse link 20 19,948,767 20,480,628 RGD:13592920
G Cc2d1a coiled-coil and C2 domain containing 1A JBrowse link 19 25,246,912 25,261,965 RGD:8554872
RGD:13592920
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain JBrowse link 7 36,395,665 36,408,588 RGD:13592920
G Crbn cereblon JBrowse link 4 138,864,910 138,885,786 RGD:13592920
G Grik2 glutamate ionotropic receptor kainate type subunit 2 JBrowse link 20 53,791,428 54,517,691 RGD:13592920
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:13592920
G Kptn kaptin (actin binding protein) JBrowse link 1 78,015,714 78,016,508 RGD:13592920
G Lins1 lines homolog 1 JBrowse link 1 127,599,647 127,625,583 RGD:13592920
G Med23 mediator complex subunit 23 JBrowse link 1 21,539,765 21,587,675 RGD:13592920
G Mettl23 methyltransferase like 23 JBrowse link 10 105,787,935 105,793,307 RGD:13592920
G Nsun2 NOP2/Sun RNA methyltransferase family, member 2 JBrowse link 1 36,295,650 36,319,906 RGD:13592920
G Pgap1 post-GPI attachment to proteins 1 JBrowse link 9 61,066,170 61,134,963 RGD:13592920
G Prss12 serine protease 12 JBrowse link 2 227,657,983 227,717,884 RGD:13592920
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:13592920
G Taf2 TATA-box binding protein associated factor 2 JBrowse link 7 94,698,987 94,755,924 RGD:13592920
G Tecr trans-2,3-enoyl-CoA reductase JBrowse link 19 24,705,478 24,732,024 RGD:13592920
G Tti2 TELO2 interacting protein 2 JBrowse link 16 64,737,342 64,745,207 RGD:13592920
G Tusc3 tumor suppressor candidate 3 JBrowse link 16 56,248,125 56,396,491 RGD:13592920
G Washc4 WASH complex subunit 4 JBrowse link 7 26,309,279 26,361,221 RGD:13592920
Coffin-Siris syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:8554872
RGD:13592920
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
RGD:11526783
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:8554872
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:8554872
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 10 87,116,827 87,138,890 RGD:8554872
Coffin-Siris syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
RGD:7240710
G Dpf2 double PHD fingers 2 JBrowse link 1 221,253,764 221,269,043 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
Coffin-Siris syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:7240710
RGD:8554872
Coffin-Siris Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 10 87,116,827 87,138,890 RGD:8554872
RGD:7240710
Coffin-Siris syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid2 AT-rich interaction domain 2 JBrowse link 7 137,680,564 137,798,329 RGD:8554872
RGD:7240710
RGD:13592920
Coffin-Siris Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpf2 double PHD fingers 2 JBrowse link 1 221,253,764 221,269,043 RGD:8554872
RGD:7240710
Helsmoortel-Van Der Aa syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adnp activity-dependent neuroprotector homeobox JBrowse link 3 164,937,188 164,964,819 RGD:7240710
RGD:8554872
Koolen de Vries syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kansl1 KAT8 regulatory NSL complex subunit 1 JBrowse link 10 92,388,045 92,517,449 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prss12 serine protease 12 JBrowse link 2 227,657,983 227,717,884 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrd gamma-aminobutyric acid type A receptor delta subunit JBrowse link 5 172,797,478 172,809,374 RGD:8554872
G Trappc9 trafficking protein particle complex 9 JBrowse link 7 113,986,363 114,309,090 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tecr trans-2,3-enoyl-CoA reductase JBrowse link 19 24,705,478 24,732,024 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Man1b1 mannosidase, alpha, class 1B, member 1 JBrowse link 3 2,547,259 2,569,051 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arg1 arginase 1 JBrowse link 1 21,525,421 21,537,872 RGD:8554872
G Med23 mediator complex subunit 23 JBrowse link 1 21,539,765 21,587,675 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crbn cereblon JBrowse link 4 138,864,910 138,885,786 RGD:7240710
RGD:8554872
G Trnt1 tRNA nucleotidyl transferase 1 JBrowse link 4 138,855,497 138,869,217 RGD:8554872
Mental Retardation, Autosomal Recessive 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lins1 lines homolog 1 JBrowse link 1 127,599,647 127,625,583 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d1a coiled-coil and C2 domain containing 1A JBrowse link 19 25,246,912 25,261,965 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain JBrowse link 7 36,395,665 36,408,588 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adat3 adenosine deaminase, tRNA-specific 3 JBrowse link 7 11,977,285 11,981,814 RGD:7240710
RGD:8554872
G Scamp4 secretory carrier membrane protein 4 JBrowse link 7 11,969,720 11,982,141 RGD:8554872
Mental Retardation, Autosomal Recessive 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ank3 ankyrin 3 JBrowse link 20 19,948,767 20,480,628 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mak16 MAK16 homolog JBrowse link 16 64,729,254 64,737,807 RGD:8554872
G Tti2 TELO2 interacting protein 2 JBrowse link 16 64,737,342 64,745,207 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf2 TATA-box binding protein associated factor 2 JBrowse link 7 94,698,987 94,755,924 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kptn kaptin (actin binding protein) JBrowse link 1 78,015,714 78,016,508 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pgap1 post-GPI attachment to proteins 1 JBrowse link 9 61,066,170 61,134,963 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Washc4 WASH complex subunit 4 JBrowse link 7 26,309,279 26,361,221 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mettl23 methyltransferase like 23 JBrowse link 10 105,787,935 105,793,307 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxo31 F-box protein 31 JBrowse link 19 53,487,610 53,625,673 RGD:7240710
Mental Retardation, Autosomal Recessive 46 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link 18 55,951,497 56,014,107 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fmn2 formin 2 JBrowse link 13 92,569,256 92,887,302 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a17 solute carrier family 6 member 17 JBrowse link 2 210,249,663 210,299,770 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpt2 glutamic--pyruvic transaminase 2 JBrowse link 19 22,599,003 22,633,529 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsun2 NOP2/Sun RNA methyltransferase family, member 2 JBrowse link 1 36,295,650 36,319,906 RGD:7240710
RGD:8554872
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:8554872
Mental Retardation, Autosomal Recessive 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edc3 enhancer of mRNA decapping 3 JBrowse link 8 62,482,126 62,527,665 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnmt histamine N-methyltransferase JBrowse link 3 905,111 937,038 RGD:8554872
RGD:7240710
RGD:11554173
Mental Retardation, Autosomal Recessive 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lman2l lectin, mannose-binding 2-like JBrowse link 9 43,020,940 43,023,015 RGD:8554872
RGD:7240710
RGD:11554173
Mental Retardation, Autosomal Recessive 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G JBrowse link 14 2,410,339 2,438,630 RGD:8554872
RGD:7240710
RGD:11554173
Mental Retardation, Autosomal Recessive 54 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnik TRAF2 and NCK interacting kinase JBrowse link 2 113,984,599 114,391,805 RGD:8554872
RGD:7240710
RGD:11554173
Mental Retardation, Autosomal Recessive 55 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hyls1 HYLS1, centriolar and ciliogenesis associated JBrowse link 8 36,763,470 36,772,199 RGD:8554872
G Pus3 pseudouridine synthase 3 JBrowse link 8 36,760,874 36,769,167 RGD:8554872
RGD:7240710
RGD:11554173
Mental Retardation, Autosomal Recessive 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zc3h14 zinc finger CCCH type containing 14 JBrowse link 6 122,729,834 122,767,462 RGD:8554872
RGD:7240710
RGD:11554173
Mental Retardation, Autosomal Recessive 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mboat7 membrane bound O-acyltransferase domain containing 7 JBrowse link 1 64,100,159 64,114,437 RGD:8554872
RGD:7240710
RGD:11554173
Mental Retardation, Autosomal Recessive 58 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp2 elongator acetyltransferase complex subunit 2 JBrowse link 18 16,544,515 16,581,086 RGD:8554872
RGD:7240710
RGD:11554173
Mental Retardation, Autosomal Recessive 59 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Impa1 inositol monophosphatase 1 JBrowse link 2 93,675,203 93,696,355 RGD:8554872
RGD:7240710
RGD:11554173
Mental Retardation, Autosomal Recessive 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grik2 glutamate ionotropic receptor kainate type subunit 2 JBrowse link 20 53,791,428 54,517,691 RGD:7240710
RGD:8554872
Mental Retardation, Autosomal Recessive 60 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf13 TATA-box binding protein associated factor 13 JBrowse link 2 211,359,623 211,370,285 RGD:8554872
RGD:7240710
RGD:11554173
Mental Retardation, Autosomal Recessive 63 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camk2a calcium/calmodulin-dependent protein kinase II alpha JBrowse link 18 56,193,978 56,295,869 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 64 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lingo1 leucine rich repeat and Ig domain containing 1 JBrowse link 8 61,272,125 61,455,480 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 65 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm5b lysine demethylase 5B JBrowse link 13 51,384,371 51,455,392 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 66 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed JBrowse link 4 159,483,089 159,518,387 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif3f eukaryotic translation initiation factor 3, subunit F JBrowse link 1 173,532,826 173,541,806 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trmt1 tRNA methyltransferase 1 JBrowse link 19 25,798,262 25,813,458 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tusc3 tumor suppressor candidate 3 JBrowse link 16 56,248,125 56,396,491 RGD:7240710
RGD:8554872
non-syndromic X-linked intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acsl4 acyl-CoA synthetase long-chain family member 4 JBrowse link X 113,596,247 113,660,024 RGD:8554872
RGD:13592920
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 JBrowse link X 159,722,031 159,841,344 RGD:8554872
G Brwd3 bromodomain and WD repeat domain containing 3 JBrowse link X 79,817,968 79,909,891 RGD:8554872
RGD:13592920
G Clcn4 chloride voltage-gated channel 4 JBrowse link X 25,016,177 25,082,563 RGD:13592920
G Dlg3 discs large MAGUK scaffold protein 3 JBrowse link X 70,596,246 70,648,529 RGD:13592920
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:11554032
G Ftsj1 FtsJ RNA methyltransferase homolog 1 JBrowse link X 14,993,685 15,006,010 RGD:13592920
G Gdi1 GDP dissociation inhibitor 1 JBrowse link X 156,400,734 156,407,396 RGD:13208823
RGD:13592920
RGD:13208831
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 JBrowse link X 55,439,388 57,004,865 RGD:8554872
RGD:13592920
G Iqsec2 IQ motif and Sec7 domain 2 JBrowse link X 22,212,137 22,293,810 RGD:13592920
G Kif4a kinesin family member 4A JBrowse link X 70,461,700 70,561,084 RGD:13592920
G LOC100363372 zinc finger protein 81 (HFZ20)-like JBrowse link X 1,034,455 1,112,282 RGD:8554872
G Nexmif neurite extension and migration factor JBrowse link X 74,943,440 75,053,559 RGD:13592920
G Pak3 p21 (RAC1) activated kinase 3 JBrowse link X 114,784,452 115,042,683 RGD:8554872
RGD:13592920
G Pof1b POF1B, actin binding protein JBrowse link X 84,099,618 84,167,717 RGD:8554872
G Rlim ring finger protein, LIM domain interacting JBrowse link X 73,757,664 73,778,763 RGD:8554872
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:13592920
G Syp synaptophysin JBrowse link X 15,694,699 15,709,244 RGD:8554872
RGD:13592920
G Tspan7 tetraspanin 7 JBrowse link X 13,261,551 13,282,886 RGD:13592920
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay JBrowse link X 123,713,327 123,731,431 RGD:8554872
G Usp9x ubiquitin specific peptidase 9, X-linked JBrowse link X 10,510,033 10,660,555 RGD:13592920
G Zdhhc15 zinc finger, DHHC-type containing 15 JBrowse link X 75,433,957 75,566,531 RGD:13592920
G Zfp711 zinc finger protein 711 JBrowse link X 84,062,363 84,095,888 RGD:8554872
RGD:13592920
G Zfp819 zinc finger protein 819 JBrowse link 1 99,521,177 99,539,232 RGD:8554872
Schuurs-Hoeijmakers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pacs1 phosphofurin acidic cluster sorting protein 1 JBrowse link 1 220,515,117 220,645,611 RGD:7240710
RGD:8554872
White-Sutton syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pogz pogo transposable element derived with ZNF domain JBrowse link 2 195,995,322 196,041,500 RGD:7240710
RGD:8554872
X-linked mental retardation 106 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase JBrowse link X 71,540,870 71,585,906 RGD:8554872
RGD:7240710
RGD:13592920
Xia-Gibbs syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahdc1 AT hook, DNA binding motif, containing 1 JBrowse link 5 151,209,894 151,277,192 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          non-syndromic intellectual disability 159
            autosomal dominant non-syndromic intellectual disability + 84
            autosomal recessive non-syndromic intellectual disability + 52
            non-syndromic X-linked intellectual disability + 25
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    non-syndromic intellectual disability 159
                      autosomal dominant non-syndromic intellectual disability + 84
                      autosomal recessive non-syndromic intellectual disability + 52
                      non-syndromic X-linked intellectual disability + 25
paths to the root