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ONTOLOGY REPORT - ANNOTATIONS
Term:Developmental Disabilities
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Accession:DOID:9008086 term browser browse the term
Definition:Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)
Synonyms:exact_synonym: Child Development Deviation;   Child Development Deviations;   Child Development Disorder;   Child Development Disorders;   Child Development Disorders, Specific;   DEVELOPMENTAL DELAY;   Developmental Delay Disorder;   Developmental Delay Disorders;   Developmental Disability;   Global developmental delay
 primary_id: MESH:D002658;   RDO:0000673
For additional species annotation, visit the Alliance of Genome Resources.

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Developmental Disabilities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aar2 AAR2 splicing factor JBrowse link 3 152,626,738 152,648,365 RGD:8554872
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:8554872
G Acsf3 acyl-CoA synthetase family member 3 JBrowse link 19 55,594,801 55,635,312 RGD:8554872
G Actl6a actin-like 6A JBrowse link 2 119,112,776 119,128,870 RGD:8554872
G Actl6b actin-like 6B JBrowse link 12 22,194,595 22,211,107 RGD:8554872
G Acyp1 acylphosphatase 1 JBrowse link 6 109,097,065 109,110,266 RGD:8554872
G Adap2 ArfGAP with dual PH domains 2 JBrowse link 10 67,494,851 67,527,582 RGD:8554872
G Adgrg1 adhesion G protein-coupled receptor G1 JBrowse link 19 10,423,534 10,460,674 RGD:8554872
G Adnp activity-dependent neuroprotector homeobox JBrowse link 3 164,937,188 164,964,819 RGD:8554872
G Agtpbp1 ATP/GTP binding protein 1 JBrowse link 17 5,510,009 5,614,416 RGD:8554872
G Ahdc1 AT hook, DNA binding motif, containing 1 JBrowse link 5 151,209,894 151,277,192 RGD:8554872
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:8554872
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 115,561,329 115,589,792 RGD:8554872
G Ambra1 autophagy and beclin 1 regulator 1 JBrowse link 3 80,634,470 80,830,068 RGD:8554872
G Ampd2 adenosine monophosphate deaminase 2 JBrowse link 2 210,861,624 210,874,348 RGD:8554872
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:8554872
G Ap4m1 adaptor related protein complex 4 subunit mu 1 JBrowse link 12 19,314,222 19,320,339 RGD:8554872
G Arfgap1 ADP-ribosylation factor GTPase activating protein 1 JBrowse link 3 176,475,847 176,490,642 RGD:11554173
G Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 JBrowse link 5 8,666,046 8,760,458 RGD:8554872
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 JBrowse link 3 163,570,435 163,656,612 RGD:8554872
G Arl14ep ADP-ribosylation factor like GTPase 14 effector protein JBrowse link 3 97,981,506 97,993,684 RGD:8554872
G As3mt arsenite methyltransferase JBrowse link 1 266,482,787 266,514,570 RGD:11554173
G Ash2l ASH2 like histone lysine methyltransferase complex subunit JBrowse link 16 71,011,315 71,033,171 RGD:8554872
G Asxl1 ASXL transcriptional regulator 1 JBrowse link 3 148,832,231 148,902,356 RGD:8554872
G Atad5 ATPase family, AAA domain containing 5 JBrowse link 10 67,427,042 67,475,825 RGD:8554872
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:8554872
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 157,236,400 157,312,028 RGD:8554872
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:8554872
G Bcap31 B-cell receptor-associated protein 31 JBrowse link X 157,094,365 157,126,397 RGD:8554872
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link 14 108,826,717 108,921,197 RGD:8554872
G Borcs5 BLOC-1 related complex subunit 5 JBrowse link 4 168,396,034 168,466,968 RGD:8554872
G Bptf bromodomain PHD finger transcription factor JBrowse link 10 95,248,573 95,350,162 RGD:8554872
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Btd biotinidase JBrowse link 16 7,758,192 7,791,301 RGD:8554872
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:8554872
G Cbl Cbl proto-oncogene JBrowse link 8 48,481,256 48,564,775 RGD:11554173
G Cdk20 cyclin-dependent kinase 20 JBrowse link 17 1,935,900 1,942,867 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 JBrowse link 2 211,183,410 211,207,458 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cep97 centrosomal protein 97 JBrowse link 11 47,146,409 47,174,460 RGD:8554872
G Chaf1b chromatin assembly factor 1 subunit B JBrowse link 11 34,101,248 34,121,371 RGD:8554872
G Chd4 chromodomain helicase DNA binding protein 4 JBrowse link 4 157,612,531 157,645,660 RGD:11554173
G Chrm4 cholinergic receptor, muscarinic 4 JBrowse link 3 80,833,272 80,841,165 RGD:8554872
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:11554173
G Cntn4 contactin 4 JBrowse link 4 137,785,166 138,787,527 RGD:11554173
G Coprs coordinator of PRMT5 and differentiation stimulator JBrowse link 16 80,826,681 80,831,791 RGD:8554872
G Cpa6 carboxypeptidase A6 JBrowse link 5 8,215,443 8,574,655 RGD:8554872
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2		 57,274,175
57,444,373		 57,350,003
57,472,465		 RGD:8554872
G Creb3l1 cAMP responsive element binding protein 3-like 1 JBrowse link 3 80,892,433 80,933,283 RGD:8554872
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:8554872
G Crlf3 cytokine receptor-like factor 3 JBrowse link 10 67,383,664 67,401,836 RGD:8554872
G Cspp1 centrosome and spindle pole associated protein 1 JBrowse link 5 8,761,293 8,876,205 RGD:8554872
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 RGD:8554872
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 JBrowse link 2 236,414,131 236,431,650 RGD:8554872
G Dchs1 dachsous cadherin-related 1 JBrowse link 1 170,594,981 170,629,062 RGD:8554872
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit JBrowse link 14 83,089,000 83,219,576 RGD:8554872
G Dgkz diacylglycerol kinase zeta JBrowse link 3 80,844,002 80,886,487 RGD:8554872
G Dhx30 DExH-box helicase 30 JBrowse link 8 118,160,315 118,194,674 RGD:8554872
G Diaph1 diaphanous-related formin 1 JBrowse link 18 30,972,907 31,071,371 RGD:8554872
G Dmbx1 diencephalon/mesencephalon homeobox 1 JBrowse link 5 134,767,436 134,792,840 RGD:8554872
G Dock3 dedicator of cyto-kinesis 3 JBrowse link 8 115,627,282 115,982,260 RGD:8554872
G Dock8 dedicator of cytokinesis 8 JBrowse link 1 242,934,685 243,153,472 RGD:11554173
G Dph2 diphthamide biosynthesis 2 JBrowse link 5 136,723,398 136,726,358 RGD:8554872
G Dpyd dihydropyrimidine dehydrogenase JBrowse link 2 221,823,692 222,694,627 RGD:8554872
G Drd2 dopamine receptor D2 JBrowse link 8 53,678,777 53,743,643 RGD:11554173
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 1 191,997,512 192,025,350 RGD:8554872
G Ebf3 EBF transcription factor 3 JBrowse link 1 209,523,153 209,641,143 RGD:8554872
G Eftud2 elongation factor Tu GTP binding domain containing 2 JBrowse link 10 90,932,071 90,983,971 RGD:8554872
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link 3 1,966,974 2,123,858 RGD:8554872
G Emc1 ER membrane protein complex subunit 1 JBrowse link 5 157,820,908 157,846,226 RGD:8554872
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 JBrowse link 1 259,692,020 259,818,922 RGD:8554872
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:8554872
G Eri1 exoribonuclease 1 JBrowse link 16 60,307,148 60,327,237 RGD:8554872
G Evi2a ecotropic viral integration site 2A JBrowse link 10 66,870,048 66,873,948 RGD:8554872
G Evi2b ecotropic viral integration site 2B JBrowse link 10 66,856,980 66,858,598 RGD:8554872
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link 17 29,006,981 29,438,906 RGD:8554872
G Fbxl4 F-box and leucine-rich repeat protein 4 JBrowse link 5 36,555,061 36,628,920 RGD:8554872
G Foxp4 forkhead box P4 JBrowse link 9 15,068,378 15,124,962 RGD:8554872
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:8554872
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 JBrowse link 1 113,034,251 113,265,364 RGD:8554872
G Gk glycerol kinase JBrowse link X 54,227,291 54,303,897 RGD:8554872
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:8554872
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 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 Golph3 golgi phosphoprotein 3 JBrowse link 2 62,360,754 62,388,773 RGD:8554872
G Grcc10 gene rich cluster, C10 gene JBrowse link 4 157,264,383 157,266,042 RGD:8554872
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 3 2,507,745 2,534,664 RGD:8554872
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:8554872
G Grm7 glutamate metabotropic receptor 7 JBrowse link 4 142,452,616 143,368,460 RGD:8554872
G Harbi1 harbinger transposase derived 1 JBrowse link 3 80,614,886 80,624,213 RGD:8554872
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:8554872
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:8554872
G Ids iduronate 2-sulfatase JBrowse link 8 69,447,971 69,466,708 RGD:8554872
G Isca2 iron-sulfur cluster assembly 2 JBrowse link 6 108,488,678 108,490,188 RGD:8554872
G Kat14 lysine acetyltransferase 14 JBrowse link 3 138,508,899 138,549,437 RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:11554173
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:11554173
G Kdm1a lysine demethylase 1A JBrowse link 5 154,909,003 154,965,171 RGD:8554872
G Kdm2b lysine demethylase 2B JBrowse link 12 39,021,924 39,161,954 RGD:8554872
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:11554173
G Kif5b kinesin family member 5B JBrowse link 17 54,181,416 54,219,048 RGD:8554872
G Kirrel3 kirre like nephrin family adhesion molecule 3 JBrowse link 8 35,692,525 36,254,755 RGD:8554872
G Kmt2c lysine methyltransferase 2C JBrowse link 4
4		 82,506
6,083,650		 109,986
6,294,413		 RGD:8554872
G Las1l LAS1-like, ribosome biogenesis factor JBrowse link X 65,081,591 65,102,344 RGD:8554872
G LOC690000 similar to CG3740-PA JBrowse link 1 94,572,714 94,587,842 RGD:8554872
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:11554173
G Lrrc32 leucine rich repeat containing 32 JBrowse link 1 163,443,972 163,457,426 RGD:8554872
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
G Maged2 MAGE family member D2 JBrowse link 5 33,174,539 33,182,715 RGD:8554872
G Map1b microtubule-associated protein 1B JBrowse link 2 29,675,391 29,768,750 RGD:8554872
G Mapk3 mitogen activated protein kinase 3 JBrowse link 1 198,192,773 198,198,975 RGD:11554173
G Mcph1 microcephalin 1 JBrowse link 16 75,904,087 76,110,624 RGD:8554872
G Mdk midkine JBrowse link 3 80,841,003 80,843,895 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:11554173
RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Mff mitochondrial fission factor JBrowse link 9 88,490,280 88,518,517 RGD:8554872
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:8554872
G Mir193a microRNA 193a JBrowse link 10 67,065,885 67,065,996 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Mlh1 mutL homolog 1 JBrowse link 8 119,486,655 119,523,716 RGD:8554872
G Mllt1 MLLT1, super elongation complex subunit JBrowse link 9 10,110,389 10,155,305 RGD:8554872
G Mpp4 membrane palmitoylated protein 4 JBrowse link 9 65,917,917 65,961,274 RGD:8554872
G Msl3 MSL complex subunit 3 JBrowse link X 27,015,826 27,033,562 RGD:11554173
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mtss2 MTSS I-BAR domain containing 2 JBrowse link 19 40,904,779 40,925,660 RGD:8554872
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:8554872
G Nans N-acetylneuraminate synthase JBrowse link 5 62,109,352 62,126,492 RGD:11554173
G Ncor1 nuclear receptor co-repressor 1 JBrowse link 10 48,629,121 48,772,890 RGD:8554872
G Ndc1 NDC1 transmembrane nucleoporin JBrowse link 5 126,976,636 127,022,941 RGD:8554872
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:8554872
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:8554872
G Nol11 nucleolar protein 11 JBrowse link 10 95,388,223 95,408,053 RGD:8554872
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link 6 108,467,410 108,488,330 RGD:8554872
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 JBrowse link 2 5,569,954 5,579,894 RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:8554872
G Ntng2 netrin G2 JBrowse link 3 7,742,511 7,800,834 RGD:8554872
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link 17 5,934,651 6,245,778 RGD:11554173
G Nup107 nucleoporin 107 JBrowse link 7 60,781,724 60,825,225 RGD:8554872
G Nup155 nucleoporin 155 JBrowse link 2 57,206,665 57,258,242 RGD:8554872
G Nup214 nucleoporin 214 JBrowse link 3
3		 9,227,869
10,993,584		 9,236,878
11,070,638		 RGD:8554872
G Ocln occludin JBrowse link 2 30,527,327 30,577,218 RGD:8554872
G Omg oligodendrocyte-myelin glycoprotein JBrowse link 10 66,845,654 66,848,388 RGD:8554872
G Otc ornithine carbamoyltransferase JBrowse link X 13,524,804 13,601,074 RGD:8554872
G Parp10 poly (ADP-ribose) polymerase family, member 10 JBrowse link 7 117,291,592 117,300,878 RGD:8554872
G Pccb propionyl-CoA carboxylase subunit beta JBrowse link 8 109,368,887 109,418,871 RGD:8554872
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:8554872
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:8554872
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit JBrowse link 19 43,107,852 43,149,243 RGD:8554872
G Pdzd2 PDZ domain containing 2 JBrowse link 2 62,399,748 62,520,448 RGD:8554872
G Pgap3 post-GPI attachment to proteins phospholipase 3 JBrowse link 10 86,343,058 86,356,146 RGD:8554872
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q JBrowse link 10 15,289,530 15,305,593 RGD:8554872
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 16 20,415,109 20,424,982 RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:11554173
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:8554872
RGD:11554173
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Prorp protein only RNase P catalytic subunit JBrowse link 6 76,079,880 76,171,298 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
G Ptpn23 protein tyrosine phosphatase, non-receptor type 23 JBrowse link 8 118,628,777 118,651,238 RGD:8554872
G Pura purine rich element binding protein A JBrowse link 18 29,104,712 29,114,918 RGD:8554872
G Rab11fip4 RAB11 family interacting protein 4 JBrowse link 10 66,942,363 67,051,672 RGD:8554872
G Rnaseh2b ribonuclease H2, subunit B JBrowse link 15 45,422,010 45,472,792 RGD:8554872
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:8554872
G Rps6kc1 ribosomal protein S6 kinase C1 JBrowse link 13 109,338,761 109,589,209 RGD:8554872
G Rubcn rubicon autophagy regulator JBrowse link 11 71,150,506 71,199,254 RGD:8554872
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:8554872
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
G Shank3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 7 130,474,278 130,534,679 RGD:11554173
RGD:8554872
G Slc13a5 solute carrier family 13 member 5 JBrowse link 10 58,806,581 58,835,549 RGD:8554872
G Slc1a3 solute carrier family 1 member 3 JBrowse link 2 57,860,881 57,935,363 RGD:8554872
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:11554173
G Slc33a1 solute carrier family 33 member 1 JBrowse link 2 154,520,170 154,542,981 RGD:11554173
G Slc35f1 solute carrier family 35, member F1 JBrowse link 20 33,772,314 34,420,970 RGD:8554872
G Slc4a4 solute carrier family 4 member 4 JBrowse link 14 20,476,258 20,817,042 RGD:11554173
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:11554173
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 Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
G Smg9 SMG9 nonsense mediated mRNA decay factor JBrowse link 1 81,259,450 81,282,893 RGD:8554872
G Son SON DNA and RNA binding protein JBrowse link 11 31,806,598 31,837,769 RGD:8554872
G Sptbn4 spectrin, beta, non-erythrocytic 4 JBrowse link 1 84,168,494 84,254,679 RGD:8554872
G ST7 suppression of tumorigenicity 7 JBrowse link 4 45,000,223 45,247,793 RGD:8554872
G Stambp Stam binding protein JBrowse link 4 115,249,343 115,277,340 RGD:11554173
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Sucla2 succinate-CoA ligase ADP-forming subunit beta JBrowse link 15 55,461,695 55,516,954 RGD:8554872
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:8554872
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 12 19,320,269 19,328,706 RGD:8554872
G Tasp1 taspase 1 JBrowse link 3 132,888,785 133,131,213 RGD:8554872
G Tbcd tubulin folding cofactor D JBrowse link 10 110,643,693 110,800,493 RGD:11554173
G Tbck TBC1 domain containing kinase JBrowse link 2 237,751,646 237,958,497 RGD:8554872
G Tcf4 transcription factor 4 JBrowse link 18 65,285,320 65,507,983 RGD:8554872
G Tctn1 tectonic family member 1 JBrowse link 12 39,790,948 39,828,215 RGD:8554872
G Tefm transcription elongation factor, mitochondrial JBrowse link 10 67,476,006 67,478,830 RGD:8554872
G Tmem47 transmembrane protein 47 JBrowse link X 48,779,110 48,805,644 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Tmem92 transmembrane protein 92 JBrowse link 10 82,545,238 82,575,822 RGD:8554872
G Tnrc6b trinucleotide repeat containing adaptor 6B JBrowse link 7 121,930,610 122,147,934 RGD:8554872
G Trh thyrotropin releasing hormone JBrowse link 4 124,110,716 124,113,242 RGD:8554872
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 JBrowse link 1 239,741,572 240,757,583 RGD:8554872
G Tsen15 tRNA splicing endonuclease subunit 15 JBrowse link 13 69,765,093 69,781,019 RGD:8554872
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:12859087
G Ube3a ubiquitin protein ligase E3A JBrowse link 1 116,586,901 116,678,161 RGD:8554872
G Unc80 unc-80 homolog, NALCN channel complex subunit JBrowse link 9 73,492,907 73,686,578 RGD:8554872
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link 7 74,118,834 74,722,341 RGD:8554872
G Wdfy4 WDFY family member 4 JBrowse link 16 9,194,446 9,430,764 RGD:11554173
G Wdr37 WD repeat domain 37 JBrowse link 17 57,983,937 58,051,011 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872
G Wdr70 WD repeat domain 70 JBrowse link 2 56,944,462 57,196,522 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872
3MC syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec10 collectin subfamily member 10 JBrowse link 7 93,975,451 94,035,999 RGD:8554872
RGD:7240710
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
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
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:8554872
RGD:7240710
Bainbridge-Ropers Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asxl3 ASXL transcriptional regulator 3 JBrowse link 18 13,322,148 13,496,230 RGD:7240710
RGD:8554872
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thoc6 THO complex 6 JBrowse link 10 12,989,135 12,994,495 RGD:7240710
RGD:8554872
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam172a family with sequence similarity 172, member A JBrowse link 2 4,942,795 5,547,744 RGD:8554872
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 JBrowse link 2 5,569,954 5,579,894 RGD:7240710
RGD:8554872
G Pou5f2 POU domain class 5, transcription factor 2 JBrowse link 2 5,437,067 5,438,301 RGD:8554872
G RGD1560883 similar to KIAA0825 protein JBrowse link 2 4,195,871 4,755,065 RGD:8554872
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps23 ribosomal protein S23 JBrowse link 2 19,823,234 19,824,804 RGD:8554872
RGD:7240710
Cerebellar Atrophy with Seizures and Variable Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 8 116,154,661 116,285,643 RGD:7240710
RGD:8554872
G Cyb561d2 cytochrome b561 family, member D2 JBrowse link 8 116,295,328 116,297,879 RGD:8554872
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872
RGD:7240710
Cerebellar Hypoplasia 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
G Atad3a ATPase family, AAA domain containing 3A JBrowse link 5 173,189,590 173,209,809 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Flg filaggrin JBrowse link 2 193,565,401 193,574,297 RGD:8554872
G Kctd3 potassium channel tetramerization domain containing 3 JBrowse link 13 107,433,588 107,471,843 RGD:8554872
G Ophn1 oligophrenin 1 JBrowse link X 68,185,865 68,579,518 RGD:8554872
G Oxr1 oxidation resistance 1 JBrowse link 7 80,351,774 80,788,094 RGD:8554872
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 14 60,657,730 60,687,950 RGD:8554872
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
G Vldlr very low density lipoprotein receptor JBrowse link 1 245,236,819 245,273,688 RGD:8554872
G Wdr37 WD repeat domain 37 JBrowse link 17 57,983,937 58,051,011 RGD:8554872
Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit JBrowse link 6 137,762,230 137,808,573 RGD:8554872
RGD:7240710
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pam16 presequence translocase associated motor 16 JBrowse link 10 11,146,359 11,153,936 RGD:8554872
RGD:7240710
chromosome 13q14 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acod1 aconitate decarboxylase 1 JBrowse link 15 93,612,968 93,622,322 RGD:8554872
G Alg11 ALG11, alpha-1,2-mannosyltransferase JBrowse link 16 74,854,007 74,866,096 RGD:8554872
G Arl11 ADP-ribosylation factor like GTPase 11 JBrowse link 15 41,639,985 41,645,685 RGD:8554872
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:8554872
G Bora bora, aurora kinase A activator JBrowse link 15 83,442,217 83,463,737 RGD:8554872
G Cab39l calcium binding protein 39-like JBrowse link 15 39,745,124 39,849,022 RGD:8554872
G Ccdc70 coiled-coil domain containing 70 JBrowse link 16 74,958,897 74,963,925 RGD:8554872
G Cdadc1 cytidine and dCMP deaminase domain containing 1 JBrowse link 15 39,865,094 39,894,122 RGD:8554872
G Ckap2 cytoskeleton associated protein 2 JBrowse link 16 74,752,655 74,779,184 RGD:8554872
G Cln5 CLN5, intracellular trafficking protein JBrowse link 15 93,634,815 93,644,146 RGD:8554872
G Cnmd chondromodulin JBrowse link 15 61,923,291 61,947,840 RGD:8554872
G Commd6 COMM domain containing 6 JBrowse link 15 86,136,096 86,142,672 RGD:8554872
G Cysltr2 cysteinyl leukotriene receptor 2 JBrowse link 15 54,903,290 54,941,742 RGD:8554872
G Dach1 dachshund family transcription factor 1 JBrowse link 15 82,095,003 82,482,272 RGD:8554872
G Diaph3 diaphanous-related formin 3 JBrowse link 15 69,928,507 70,400,077 RGD:8554872
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link 15 83,466,330 83,494,107 RGD:8554872
G Dleu7 deleted in lymphocytic leukemia, 7 JBrowse link 15 45,360,505 45,378,840 RGD:8554872
G Ebpl EBP like JBrowse link 15 41,668,119 41,691,518 RGD:8554872
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:8554872
G Fam124a family with sequence similarity 124 member A JBrowse link 15 45,711,994 45,780,395 RGD:8554872
G Fbxl3 F-box and leucine-rich repeat protein 3 JBrowse link 15 93,647,307 93,667,395 RGD:8554872
G Fndc3a fibronectin type III domain containing 3a JBrowse link 15 54,378,865 54,582,954 RGD:8554872
G Ints6 integrator complex subunit 6 JBrowse link 15 45,844,050 45,929,996 RGD:8554872
G Itm2b integral membrane protein 2B JBrowse link 15 55,254,703 55,277,713 RGD:8554872
G Kcnrg potassium channel regulator JBrowse link 15 41,937,880 41,942,205 RGD:8554872
G Kctd12 potassium channel tetramerization domain containing 12 JBrowse link 15 87,384,632 87,390,627 RGD:8554872
G Klf12 Kruppel-like factor 12 JBrowse link 15 84,316,986 84,748,549 RGD:8554872
G Klf5 Kruppel-like factor 5 JBrowse link 15 83,703,796 83,722,921 RGD:8554872
G Klhl1 kelch-like family member 1 JBrowse link 15 80,270,846 80,714,176 RGD:8554872
G Kpna3 karyopherin subunit alpha 3 JBrowse link 15 41,696,356 41,770,112 RGD:8554872
G Lmo7 LIM domain 7 JBrowse link 15 86,242,911 86,458,512 RGD:8554872
G Lpar6 lysophosphatidic acid receptor 6 JBrowse link 15 55,126,953 55,128,762 RGD:8554872
G Med4 mediator complex subunit 4 JBrowse link 15 55,406,543 55,416,816 RGD:8554872
G Mycbp2 MYC binding protein 2 JBrowse link 15
15		 87,405,472
93,678,062		 87,450,812
93,901,556		 RGD:8554872
G Mzt1 mitotic spindle organizing protein 1 JBrowse link 15 83,429,437 83,442,118 RGD:8554872
G Ndfip2 Nedd4 family interacting protein 2 JBrowse link 15 89,407,426 89,458,983 RGD:8554872
G Nek3 NIMA-related kinase 3 JBrowse link 16 74,781,371 74,806,567 RGD:8554872
G Nek5 NIMA-related kinase 5 JBrowse link 16 74,809,513 74,851,895 RGD:8554872
G Nudt15 nudix hydrolase 15 JBrowse link 15 55,417,774 55,456,698 RGD:8554872
G Obi1 ORC ubiquitin ligase 1 JBrowse link 15 88,632,089 88,670,325 RGD:8554872
G Olfm4 olfactomedin 4 JBrowse link 15 62,384,263 62,429,450 RGD:8554872
G Pcdh17 protocadherin 17 JBrowse link 15 67,555,835 67,647,990 RGD:8554872
G Pcdh20 protocadherin 20 JBrowse link 15 71,772,777 71,779,033 RGD:8554872
G Pcdh8 protocadherin 8 JBrowse link 15 62,196,469 62,201,498 RGD:8554872
G Pcdh9 protocadherin 9 JBrowse link 15 76,787,108 77,738,668 RGD:8554872
G Phf11 PHD finger protein 11 JBrowse link 15 38,692,817 39,683,417 RGD:8554872
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
G Pou4f1 POU class 4 homeobox 1 JBrowse link 15 88,618,255 88,622,712 RGD:8554872
G Prr20e proline rich 20E JBrowse link 4 121,040,810 121,053,910 RGD:8554872
G Rb1 RB transcriptional corepressor 1 JBrowse link 15 55,081,582 55,209,060 RGD:8554872
G Rbm26 RNA binding motif protein 26 JBrowse link 15 89,262,683 89,339,323 RGD:8554872
G Rcbtb1 RCC1 and BTB domain containing protein 1 JBrowse link 15 39,622,572 39,665,335 RGD:8554872
G Rcbtb2 RCC1 and BTB domain containing protein 2 JBrowse link 15 55,029,388 55,074,728 RGD:8554872
G Rnaseh2b ribonuclease H2, subunit B JBrowse link 15 45,422,010 45,472,792 RGD:8554872
G Scel sciellin JBrowse link 15 87,689,190 87,820,731 RGD:8554872
G Serpine3 serpin family E member 3 JBrowse link 15 45,827,983 45,855,952 RGD:8554872
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 JBrowse link 15 38,699,135 39,745,035 RGD:8554872
G Slain1 SLAIN motif family, member 1 JBrowse link 15 87,862,832 87,906,472 RGD:8554872
G Slitrk1 SLIT and NTRK-like family, member 1 JBrowse link 15 93,303,382 93,307,420 RGD:8554872
G Slitrk6 SLIT and NTRK-like family, member 6 JBrowse link 15 95,507,632 95,514,259 RGD:8554872
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link 15 90,172,769 90,177,823 RGD:8554872
G Spryd7 SPRY domain containing 7 JBrowse link 15 41,871,144 41,890,879 RGD:8554872
G Sucla2 succinate-CoA ligase ADP-forming subunit beta JBrowse link 15 55,461,695 55,516,954 RGD:8554872
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone JBrowse link 15 61,873,158 61,913,983 RGD:8554872
G Tbc1d4 TBC1 domain family, member 4 JBrowse link 15 85,927,978 86,105,829 RGD:8554872
G Tdrd3 tudor domain containing 3 JBrowse link 15 70,732,164 70,864,855 RGD:8554872
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link 16 74,680,621 74,712,368 RGD:8554872
G Trim13 tripartite motif-containing 13 JBrowse link 15 41,897,191 41,936,545 RGD:8554872
G Uchl3 ubiquitin C-terminal hydrolase L3 JBrowse link 15 86,153,624 86,198,127 RGD:8554872
G Vps36 vacuolar protein sorting 36 homolog JBrowse link 16 74,719,642 74,743,921 RGD:8554872
G Wdfy2 WD repeat and FYVE domain containing 2 JBrowse link 15 46,008,613 46,134,319 RGD:8554872
chromosome 17p13.3 duplication syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abr ABR activator of RhoGEF and GTPase JBrowse link 10 64,565,121 64,657,079 RGD:8554872
G Bhlha9 basic helix-loop-helix family, member a9 JBrowse link 10 63,498,267 63,500,353 RGD:8554872
G Crk CRK proto-oncogene, adaptor protein JBrowse link 10 63,829,731 63,855,999 RGD:8554872
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 JBrowse link 10 63,471,330 63,491,713 RGD:8554872
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon JBrowse link 10 63,884,338 63,921,709 RGD:8554872
Cohen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir875 microRNA 875 JBrowse link 7 74,423,233 74,423,305 RGD:8554872
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link 7 74,118,834 74,722,341 RGD:7240710
RGD:8554872
RGD:11554173
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:8554872
RGD:7240710
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk13 cyclin-dependent kinase 13 JBrowse link 17 49,833,194 49,922,932 RGD:8554872
RGD:7240710
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atn1 atrophin 1 JBrowse link 4 157,267,394 157,281,199 RGD:7240710
RGD:8554872
Desanto-Shinawi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wac WW domain containing adaptor with coiled-coil JBrowse link 17 60,887,606 60,946,630 RGD:8554872
RGD:7240710
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trrap transformation/transcription domain-associated protein JBrowse link 12 11,537,950 11,627,563 RGD:7240710
RGD:8554872
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 JBrowse link 8 90,343,307 90,360,085 RGD:8554872
G Phip pleckstrin homology domain interacting protein JBrowse link 8 90,387,339 90,483,964 RGD:8554872
RGD:7240710
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsx2 GS homeobox 2 JBrowse link 14 35,650,985 35,652,709 RGD:8554872
RGD:7240710
Dyskinesias, Seizures, and Intellectual Developmental Disorder 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:8554872
RGD:7240710
Forebrain Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrc2 leucine rich repeat containing 2 JBrowse link 8 119,226,651 119,259,649 RGD:8554872
G Tdgf1 teratocarcinoma-derived growth factor 1 JBrowse link 8 119,215,266 119,220,909 RGD:8554872
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cux1 cut-like homeobox 1 JBrowse link 12 23,150,886 23,470,095 RGD:7240710
RGD:8554872
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp148 zinc finger protein 148 JBrowse link 11 70,509,909 70,618,422 RGD:8554872
RGD:7240710
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dicer1 dicer 1 ribonuclease III JBrowse link 6 128,388,084 128,453,234 RGD:8554872
RGD:7240710
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gls glutaminase JBrowse link 9 54,212,622 54,284,879 RGD:7240710
RGD:8554872
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fto FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:7240710
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
Heyn-Sproul-Jackson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:8554872
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adk adenosine kinase JBrowse link 15 3,033,535 3,435,888 RGD:7240710
RGD:8554872
RGD:11554173
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn7 chloride voltage-gated channel 7 JBrowse link 10 14,492,844 14,518,167 RGD:7240710
RGD:8554872
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ebf3 EBF transcription factor 3 JBrowse link 1 209,523,153 209,641,143 RGD:8554872
RGD:7240710
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctbp1 C-terminal binding protein 1 JBrowse link 14 82,762,109 82,789,350 RGD:8554872
RGD:7240710
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:8554872
RGD:7240710
Kat6a Syndrome 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:8554872
Keppen-Lubinsky Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 JBrowse link 11 35,011,007 35,262,362 RGD:7240710
RGD:8554872
Lamb-Shaffer Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox5 SRY-box transcription factor 5 JBrowse link 4 178,062,267 179,031,991 RGD:8554872
RGD:7240710
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk5 cyclin-dependent kinase 5 JBrowse link 4 7,282,945 7,287,427 RGD:7240710
RGD:8554872
Loucks-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:8554872
RGD:7240710
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
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcna4 potassium voltage-gated channel subfamily A member 4 JBrowse link 3 98,293,295 98,300,763 RGD:8554872
RGD:7240710
microcephaly, seizures, and developmental delay 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
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfer growth factor, augmenter of liver regeneration JBrowse link 10 14,059,347 14,061,703 RGD:7240710
RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ints8 integrator complex subunit 8 JBrowse link 5 24,446,002 24,493,819 RGD:8554872
RGD:7240710
Obesity, Hyperphagia, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link 17 5,934,651 6,245,778 RGD:7240710
RGD:8554872
Ogden syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:7240710
RGD:8554872
Oliver-McFarlane syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
RGD:7240710
Osteosclerotic Metaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrk1 leucine-rich repeat kinase 1 JBrowse link 1 127,166,866 127,301,053 RGD:8554872
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nedd4l NEDD4 like E3 ubiquitin protein ligase JBrowse link 18 60,392,376 60,719,720 RGD:8554872
Pierpont syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 TBL1X receptor 1 JBrowse link 2 107,221,913 107,359,229 RGD:8554872
RGD:7240710
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pi4ka phosphatidylinositol 4-kinase alpha JBrowse link 11 87,858,323 87,975,549 RGD:8554872
RGD:7240710
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qars1 glutaminyl-tRNA synthetase 1 JBrowse link 8 117,297,670 117,305,708 RGD:7240710
RGD:8554872
pseudo-TORCH syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ocln occludin JBrowse link 2 30,527,327 30,577,218 RGD:7240710
RGD:8554872
Pseudo-TORCH Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Usp18 ubiquitin specific peptidase 18 JBrowse link 4 153,812,312 153,834,374 RGD:8554872
RGD:7240710
Rajab Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Farsb phenylalanyl-tRNA synthetase subunit beta JBrowse link 9 84,324,456 84,383,674 RGD:8554872
RGD:7240710
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arcn1 archain 1 JBrowse link 8 49,051,257 49,075,861 RGD:8554872
RGD:7240710
Short Stature, Developmental Delay, and Congenital Heart Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tkt transketolase JBrowse link 16 6,609,670 6,634,608 RGD:8554872
RGD:7240710
SIDDIQI SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fitm2 fat storage-inducing transmembrane protein 2 JBrowse link 3 159,856,994 159,863,506 RGD:7240710
RGD:8554872
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trnt1 tRNA nucleotidyl transferase 1 JBrowse link 4 138,855,497 138,869,217 RGD:8554872
RGD:7240710
SNIJDERS BLOK-FISHER SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pou3f3 POU class 3 homeobox 3 JBrowse link 9 49,479,148 49,482,246 RGD:7240710
RGD:8554872
succinic semialdehyde dehydrogenase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 JBrowse link 17 42,133,076 42,159,413 RGD:7240710
RGD:8554872
RGD:11554173
G Gpld1 glycosylphosphatidylinositol specific phospholipase D1 JBrowse link 17 42,085,027 42,131,344 RGD:8554872
Ter Haar Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3pxd2b SH3 and PX domains 2B JBrowse link 10 17,209,152 17,296,449 RGD:7240710
RGD:8554872
Turnpenny-Fry Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcgf2 polycomb group ring finger 2 JBrowse link 10 85,631,829 85,642,591 RGD:7240710
RGD:8554872
VERVERI-BRADY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qrich1 glutamine-rich 1 JBrowse link 8 117,305,803 117,346,738 RGD:8554872
RGD:7240710
WEISS-KRUSZKA SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp462 zinc finger protein 462 JBrowse link 5 71,679,841 71,824,077 RGD:7240710
RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Neurodevelopmental Disorders 4162
        Developmental Disabilities 379
          3MC syndrome 3 3
          AGAT deficiency 9
          Abuse Dwarfism Syndrome 0
          Al Gazali Sabrinathan Nair Syndrome 0
          Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
          Bagatelle Cassidy syndrome 0
          Bainbridge-Ropers Syndrome 1
          Beaulieu-Boycott-Innes Syndrome 1
          Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 4
          Brachycephaly, Trichomegaly, and Developmental Delay 1
          CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
          CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 1
          CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES 1
          Cerebellar Atrophy with Seizures and Variable Developmental Delay 2
          Cerebellar Hypoplasia + 16
          Cerebellofaciodental Syndrome 1
          Chitayat Moore Del Bigio Syndrome 0
          Chitty Hall Webb Syndrome 0
          Chondrodysplasia, Megarbane-Dagher-Melki Type 1
          Cohen syndrome 2
          Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 1
          Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
          DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM 1
          DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 2
          Der Kaloustian Mcintosh Silver Syndrome 0
          Desanto-Shinawi Syndrome 1
          Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
          Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
          Forebrain Defects 2
          Forsythe-Wakeling Syndrome 0
          Fragile Site 16p12 0
          GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 1
          GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
          Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
          Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
          Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
          Grubben de Cock Borghgraef Syndrome 0
          HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT 1
          HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
          HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
          Heyn-Sproul-Jackson Syndrome 1
          IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
          Kat6a Syndrome 1
          Keppen-Lubinsky Syndrome 1
          Lamb-Shaffer Syndrome 1
          Loucks-Innes Syndrome 1
          Luscan-Lumish syndrome 1
          Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
          Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
          Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 0
          Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
          Non-Lissencephalic Cortical Dysplasia 0
          Obesity, Hyperphagia, and Developmental Delay 1
          Ogden syndrome 1
          Oliver-McFarlane syndrome 1
          Osteosclerotic Metaphyseal Dysplasia 1
          PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 0
          Partington Anderson Syndrome 0
          Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay 1
          Pierpont syndrome 1
          Pseudo-TORCH Syndrome + 2
          Rajab Syndrome 1
          Refsum Disease with Increased Pipecolic Acidemia 0
          Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay 1
          Roifman-Chitayat Syndrome 0
          SIDDIQI SYNDROME 1
          SNIJDERS BLOK-FISHER SYNDROME 1
          Short Stature, Developmental Delay, and Congenital Heart Defects 1
          Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 0
          Ter Haar Syndrome 1
          Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
          Turnpenny-Fry Syndrome 1
          Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 0
          VERVERI-BRADY SYNDROME 1
          WEISS-KRUSZKA SYNDROME 1
          chromosome 13q14 deletion syndrome 71
          chromosome 17p13.3 duplication syndrome 5
          chromosome 3q29 microdeletion syndrome 0
          chromosome Xp11.23-p11.22 duplication syndrome 0
          hypermethioninemia due to adenosine kinase deficiency 1
          microcephaly, seizures, and developmental delay 1
          sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
          succinic semialdehyde dehydrogenase deficiency 2
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        central nervous system disease 8410
          brain disease 7763
            disease of mental health 5617
              Neurodevelopmental Disorders 4162
                Developmental Disabilities 379
                  3MC syndrome 3 3
                  AGAT deficiency 9
                  Abuse Dwarfism Syndrome 0
                  Al Gazali Sabrinathan Nair Syndrome 0
                  Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
                  Bagatelle Cassidy syndrome 0
                  Bainbridge-Ropers Syndrome 1
                  Beaulieu-Boycott-Innes Syndrome 1
                  Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 4
                  Brachycephaly, Trichomegaly, and Developmental Delay 1
                  CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
                  CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 1
                  CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES 1
                  Cerebellar Atrophy with Seizures and Variable Developmental Delay 2
                  Cerebellar Hypoplasia + 16
                  Cerebellofaciodental Syndrome 1
                  Chitayat Moore Del Bigio Syndrome 0
                  Chitty Hall Webb Syndrome 0
                  Chondrodysplasia, Megarbane-Dagher-Melki Type 1
                  Cohen syndrome 2
                  Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 1
                  Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
                  DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM 1
                  DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 2
                  Der Kaloustian Mcintosh Silver Syndrome 0
                  Desanto-Shinawi Syndrome 1
                  Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
                  Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
                  Forebrain Defects 2
                  Forsythe-Wakeling Syndrome 0
                  Fragile Site 16p12 0
                  GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 1
                  GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
                  Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
                  Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
                  Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
                  Grubben de Cock Borghgraef Syndrome 0
                  HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT 1
                  HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
                  HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
                  Heyn-Sproul-Jackson Syndrome 1
                  IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
                  Kat6a Syndrome 1
                  Keppen-Lubinsky Syndrome 1
                  Lamb-Shaffer Syndrome 1
                  Loucks-Innes Syndrome 1
                  Luscan-Lumish syndrome 1
                  Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
                  Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
                  Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 0
                  Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
                  Non-Lissencephalic Cortical Dysplasia 0
                  Obesity, Hyperphagia, and Developmental Delay 1
                  Ogden syndrome 1
                  Oliver-McFarlane syndrome 1
                  Osteosclerotic Metaphyseal Dysplasia 1
                  PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 0
                  Partington Anderson Syndrome 0
                  Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay 1
                  Pierpont syndrome 1
                  Pseudo-TORCH Syndrome + 2
                  Rajab Syndrome 1
                  Refsum Disease with Increased Pipecolic Acidemia 0
                  Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay 1
                  Roifman-Chitayat Syndrome 0
                  SIDDIQI SYNDROME 1
                  SNIJDERS BLOK-FISHER SYNDROME 1
                  Short Stature, Developmental Delay, and Congenital Heart Defects 1
                  Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 0
                  Ter Haar Syndrome 1
                  Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
                  Turnpenny-Fry Syndrome 1
                  Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 0
                  VERVERI-BRADY SYNDROME 1
                  WEISS-KRUSZKA SYNDROME 1
                  chromosome 13q14 deletion syndrome 71
                  chromosome 17p13.3 duplication syndrome 5
                  chromosome 3q29 microdeletion syndrome 0
                  chromosome Xp11.23-p11.22 duplication syndrome 0
                  hypermethioninemia due to adenosine kinase deficiency 1
                  microcephaly, seizures, and developmental delay 1
                  sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
                  succinic semialdehyde dehydrogenase deficiency 2
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.