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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 17 39,498,682 39,521,195 RGD:9068941
G ACO2 aconitase 2 JBrowse link 5 7,014,383 7,071,023 RGD:9068941
G ACSF3 acyl-CoA synthetase family member 3 JBrowse link 6 663,201 708,800 RGD:9068941
G ACTL6A actin like 6A JBrowse link 13 117,598,415 117,627,311 RGD:9068941
G ACTL6B actin like 6B JBrowse link 3 8,554,322 8,568,774 RGD:9068941
G ACYP1 acylphosphatase 1 JBrowse link 7 98,220,318 98,265,187 RGD:9068941
G ADAP2 ArfGAP with dual PH domains 2 JBrowse link 12 42,817,683 42,864,594 RGD:9068941
G ADGRG1 adhesion G protein-coupled receptor G1 JBrowse link 6 19,523,618 19,570,891 RGD:9068941
G ADNP activity dependent neuroprotector homeobox JBrowse link 17 52,316,388 52,350,732 RGD:9068941
G AGTPBP1 ATP/GTP binding protein 1 JBrowse link 10 29,440,150 29,590,457 RGD:9068941
G AHDC1 AT-hook DNA binding motif containing 1 JBrowse link 6 84,735,253 84,774,554 RGD:9068941
G AHI1 Abelson helper integration site 1 JBrowse link 1 28,566,279 28,760,471 RGD:9068941
G AKT3 AKT serine/threonine kinase 3 JBrowse link 10 16,441,465 16,741,745 RGD:9068941
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 91,644,586 91,708,695 RGD:9068941
G AMBRA1 autophagy and beclin 1 regulator 1 JBrowse link 2 15,935,354 16,119,082 RGD:9068941
G AMPD2 adenosine monophosphate deaminase 2 JBrowse link 4 110,493,490 110,505,123 RGD:9068941
G ANKRD11 ankyrin repeat domain 11 JBrowse link 6 455,856 612,878 RGD:9068941
G AP4M1 adaptor related protein complex 4 subunit mu 1 JBrowse link 3 8,013,701 8,017,701 RGD:9068941
G ARFGAP1 ADP ribosylation factor GTPase activating protein 1 JBrowse link 17 62,380,060 62,391,836 RGD:9068941
G ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 JBrowse link 4 67,465,517 67,613,611 RGD:9068941
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 JBrowse link 17 50,631,844 50,732,253 RGD:9068941
G ARL14EP ADP ribosylation factor like GTPase 14 effector protein JBrowse link 2 30,293,400 30,311,583 RGD:9068941
G AS3MT arsenite methyltransferase JBrowse link 14 113,844,107 113,867,880 RGD:9068941
G ASH2L ASH2 like, histone lysine methyltransferase complex subunit JBrowse link 15 48,386,426 48,417,560 RGD:9068941
G ASXL1 ASXL transcriptional regulator 1 JBrowse link 17 35,985,978 36,067,122 RGD:9068941
G ATAD5 ATPase family AAA domain containing 5 JBrowse link 12 42,874,705 42,920,438 RGD:9068941
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 6 49,905,851 49,927,437 RGD:9068941
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 124,318,874 124,357,653 RGD:9068941
G ATRX ATRX chromatin remodeler JBrowse link X 61,584,028 61,872,341 RGD:9068941
G BCAP31 B cell receptor associated protein 31 JBrowse link X 124,456,999 124,484,923 RGD:9068941
G BCL11A BAF chromatin remodeling complex subunit BCL11A JBrowse link 3 81,195,217 81,296,165 RGD:9068941
G BORCS5 BLOC-1 related complex subunit 5 JBrowse link 5 59,969,806 60,072,976 RGD:9068941
G BPTF bromodomain PHD finger transcription factor JBrowse link 12 14,112,943 14,254,810 RGD:9068941
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 18 8,957,963 9,132,558 RGD:9068941
G BTD biotinidase JBrowse link 13 2,840,425 2,902,619 RGD:9068941
G C5H12orf57 chromosome 5 C12orf57 homolog JBrowse link 5 63,779,510 63,781,307 RGD:9068941
G C6H19orf12 chromosome 6 C19orf12 homolog JBrowse link 6 39,813,644 39,825,069 RGD:9068941
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 2 65,491,784 65,871,068 RGD:9068941
G CAMKMT calmodulin-lysine N-methyltransferase JBrowse link 3 95,688,400 96,092,028 RGD:9068941
G CASR calcium sensing receptor JBrowse link 13 138,279,785 138,364,934 RGD:9068941
G CBL Cbl proto-oncogene JBrowse link 9 46,416,937 46,512,855 RGD:9068941
G CDK20 cyclin dependent kinase 20 JBrowse link 14 15,582 24,102 RGD:9068941
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,858,826 15,096,969 RGD:9068941
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 JBrowse link 4 110,819,422 110,845,354 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 5 94,384,397 94,474,337 RGD:9068941
G CEP97 centrosomal protein 97 JBrowse link 13 157,356,248 157,388,425 RGD:9068941
G CHAF1B chromatin assembly factor 1 subunit B JBrowse link 13 200,048,096 200,074,902 RGD:9068941
G CHD4 chromodomain helicase DNA binding protein 4 JBrowse link 5 64,071,627 64,105,212 RGD:9068941
G CHRM4 cholinergic receptor muscarinic 4 JBrowse link 2 16,119,794 16,131,080 RGD:9068941
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 17 62,424,672 62,436,646 RGD:9068941
G CNTN4 contactin 4 JBrowse link 13 58,642,653 59,642,134 RGD:9068941
G COPRS coordinator of PRMT5 and differentiation stimulator JBrowse link 12 43,091,181 43,097,998 RGD:9068941
G CPA6 carboxypeptidase A6 JBrowse link 4 67,157,341 67,411,582 RGD:9068941
G CPLANE1 ciliogenesis and planar polarity effector 1 JBrowse link 16 22,381,001 22,501,052 RGD:9068941
G CREB3L1 cAMP responsive element binding protein 3 like 1 JBrowse link 2 16,186,206 16,220,948 RGD:9068941
G CREBBP CREB binding protein JBrowse link 3 38,388,366 38,530,243 RGD:9068941
G CRLF3 cytokine receptor like factor 3 JBrowse link 12 42,933,417 42,991,395 RGD:9068941
G CSPP1 centrosome and spindle pole associated protein 1 JBrowse link 4 67,614,067 67,844,337 RGD:9068941
G CUL4B cullin 4B JBrowse link X 98,668,945 98,730,582 RGD:9068941
G DCHS1 dachsous cadherin-related 1 JBrowse link 9 3,099,525 3,134,825 RGD:9068941
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit JBrowse link 14 48,421,788 48,523,530 RGD:9068941
G DGKZ diacylglycerol kinase zeta JBrowse link 2 16,134,046 16,176,043 RGD:9068941
G DHX30 DExH-box helicase 30 JBrowse link 13 30,602,008 30,632,506 RGD:9068941
G DIAPH1 diaphanous related formin 1 JBrowse link 2 143,158,691 143,271,110 RGD:9068941
G DMBX1 diencephalon/mesencephalon homeobox 1 JBrowse link 6 164,967,890 164,978,541 RGD:9068941
G DOCK3 dedicator of cytokinesis 3 JBrowse link 13 33,152,138 33,657,133 RGD:9068941
G DOCK8 dedicator of cytokinesis 8 JBrowse link 1 221,257,771 221,491,889 RGD:9068941
G DPH2 diphthamide biosynthesis 2 JBrowse link 6 167,322,197 167,327,760 RGD:9068941
G DPYD dihydropyrimidine dehydrogenase JBrowse link 4 119,931,471 120,712,461 RGD:9068941
G DRD2 dopamine receptor D2 JBrowse link 9 41,068,618 41,135,262 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:9068941
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 3 22,654,351 22,684,246 RGD:9068941
G EBF3 EBF transcription factor 3 JBrowse link 14 138,819,846 138,935,504 RGD:9068941
G EFTUD2 elongation factor Tu GTP binding domain containing 2 JBrowse link 12 18,474,367 18,514,993 RGD:9068941
G EHMT1 euchromatic histone lysine methyltransferase 1 RGD:9068941
G EMC1 ER membrane protein complex subunit 1 JBrowse link 6 77,723,374 77,747,780 RGD:9068941
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 JBrowse link 14 107,263,546 107,390,923 RGD:9068941
G EP300 E1A binding protein p300 JBrowse link 5 7,311,165 7,394,515 RGD:9068941
G ERI1 exoribonuclease 1 JBrowse link 15 56,091,790 56,123,520 RGD:9068941
G EVI2A ecotropic viral integration site 2A JBrowse link 12 43,543,020 43,548,586 RGD:9068941
G EVI2B ecotropic viral integration site 2B JBrowse link 12 43,553,891 43,561,759 RGD:9068941
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link 7 3,193,433 3,557,413 RGD:9068941
G FBXL4 F-box and leucine rich repeat protein 4 JBrowse link 1 65,872,119 65,936,442 RGD:9068941
G FOXP4 forkhead box P4 JBrowse link 7 36,760,643 36,793,620 RGD:9068941
G FOXRED1 FAD dependent oxidoreductase domain containing 1 JBrowse link 9 53,365,260 53,372,955 RGD:9068941
G GABRB3 gamma-aminobutyric acid type A receptor beta3 subunit JBrowse link 1 140,566,443 140,906,516 RGD:9068941
G GK glycerol kinase JBrowse link X 26,470,422 26,558,892 RGD:9068941
G GLI3 GLI family zinc finger 3 JBrowse link 18 52,403,463 52,697,906 RGD:9068941
G GMPPB GDP-mannose pyrophosphorylase B JBrowse link 13 32,246,471 32,253,162 RGD:9068941
G GNB1 G protein subunit beta 1 JBrowse link 6 63,867,155 63,957,514 RGD:9068941
G GNB5 G protein subunit beta 5 JBrowse link 1 119,545,382 119,589,860 RGD:9068941
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 RGD:9068941
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 3 32,749,329 33,149,350 RGD:9068941
G GRM7 glutamate metabotropic receptor 7 JBrowse link 13 63,318,002 64,203,982 RGD:9068941
G HARBI1 harbinger transposase derived 1 JBrowse link 2 15,916,403 15,927,148 RGD:9068941
G HDAC8 histone deacetylase 8 JBrowse link X 58,210,182 58,450,681 RGD:9068941
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 15 56,438,117 56,649,805 RGD:9068941
G IDS iduronate 2-sulfatase JBrowse link X 121,572,797 121,596,525 RGD:9068941
G ISCA2 iron-sulfur cluster assembly 2 JBrowse link 7 97,740,479 97,746,491 RGD:9068941
G KAT14 lysine acetyltransferase 14 JBrowse link 17 26,484,957 26,521,532 RGD:9068941
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 17 62,459,277 62,506,403 RGD:9068941
G KCNT1 potassium sodium-activated channel subfamily T member 1 RGD:9068941
G KDM1A lysine demethylase 1A JBrowse link 6 80,903,407 80,971,875 RGD:9068941
G KDM2B lysine demethylase 2B JBrowse link 14 31,057,121 31,203,093 RGD:9068941
G KIF1A kinesin family member 1A JBrowse link 15 139,610,624 139,694,841 RGD:9068941
G KIF5B kinesin family member 5B JBrowse link 10 42,637,105 42,693,551 RGD:9068941
G KIRREL3 kirre like nephrin family adhesion molecule 3 JBrowse link 9 53,493,735 54,066,490 RGD:9068941
G KMT2C lysine methyltransferase 2C JBrowse link 18 4,993,213 5,279,668 RGD:9068941
G LAS1L LAS1 like ribosome biogenesis factor JBrowse link X 51,753,600 51,773,416 RGD:9068941
G LOC100518620 cytochrome P450 2U1 JBrowse link 8 114,016,915 114,035,905 RGD:9068941
G LOC110257335 Golgi phosphoprotein 3 JBrowse link 16 18,367,264 18,416,496 RGD:9068941
G LRP2 LDL receptor related protein 2 JBrowse link 15 75,565,299 75,754,604 RGD:9068941
G LRRC32 leucine rich repeat containing 32 JBrowse link 9 10,802,228 10,815,892 RGD:9068941
G MAF MAF bZIP transcription factor JBrowse link 6 8,468,736 8,910,012 RGD:9068941
G MAP1B microtubule associated protein 1B JBrowse link 16 48,403,338 48,501,453 RGD:9068941
G MAPK3 mitogen-activated protein kinase 3 JBrowse link 3 18,291,444 18,299,410 RGD:9068941
G MCPH1 microcephalin 1 JBrowse link 15 37,455,186 37,674,971 RGD:9068941
G MDK midkine JBrowse link 2 16,130,787 16,133,791 RGD:9068941
G MECP2 methyl-CpG binding protein 2 JBrowse link X 124,735,523 124,789,063 RGD:9068941
G MED12 mediator complex subunit 12 JBrowse link X 57,150,884 57,174,367 RGD:9068941
G MFF mitochondrial fission factor JBrowse link 15 128,768,441 128,799,355 RGD:9068941
G MIR193A microRNA mir-193a JBrowse link 12 43,336,969 43,337,048 RGD:9068941
G MKS1 MKS transition zone complex subunit 1 JBrowse link 12 34,499,139 34,512,191 RGD:9068941
G MLH1 mutL homolog 1 JBrowse link 13 21,791,276 21,877,789 RGD:9068941
G MLLT1 MLLT1 super elongation complex subunit JBrowse link 2 72,780,950 72,847,694 RGD:9068941
G MPP4 membrane palmitoylated protein 4 JBrowse link 15 105,277,295 105,319,936 RGD:9068941
G MSL3 MSL complex subunit 3 JBrowse link X 8,519,366 8,535,249 RGD:9068941
G MTSS2 MTSS I-BAR domain containing 2 JBrowse link 6 13,660,388 13,682,311 RGD:9068941
G MYO15A myosin XVA JBrowse link 12 60,533,502 60,582,645 RGD:9068941
G NANS N-acetylneuraminate synthase JBrowse link 1 239,881,984 239,912,727 RGD:9068941
G NCOR1 nuclear receptor corepressor 1 JBrowse link 12 59,256,868 59,392,564 RGD:9068941
G ND1 NADH dehydrogenase subunit 1 JBrowse link MT 3,922 4,876 RGD:9068941
G ND4 NADH dehydrogenase subunit 4 JBrowse link MT 11,359 12,736 RGD:9068941
G NDC1 NDC1 transmembrane nucleoporin JBrowse link 6 158,458,597 158,515,057 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 12 43,487,098 43,754,205 RGD:9068941
G NIPBL NIPBL cohesin loading factor JBrowse link 16 22,152,455 22,364,373 RGD:9068941
G NOL11 nucleolar protein 11 JBrowse link 12 14,035,649 14,058,421 RGD:9068941
G NPC2 NPC intracellular cholesterol transporter 2 JBrowse link 7 97,730,532 97,740,087 RGD:9068941
G NR2F1 nuclear receptor subfamily 2 group F member 1 JBrowse link 2 100,447,661 100,457,510 RGD:9068941
G NSD1 nuclear receptor binding SET domain protein 1 JBrowse link 2 80,649,882 80,810,934 RGD:9068941
G NTNG2 netrin G2 JBrowse link 1 272,007,513 272,077,105 RGD:9068941
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 10 30,030,050 30,429,938 RGD:9068941
G NUP107 nucleoporin 107 JBrowse link 5 32,989,661 33,040,565 RGD:9068941
G NUP155 nucleoporin 155 JBrowse link 16 22,520,443 22,590,119 RGD:9068941
G NUP214 nucleoporin 214 JBrowse link 1 271,103,838 271,210,292 RGD:9068941
G OCLN occludin JBrowse link 16 47,600,175 47,652,435 RGD:9068941
G OMG oligodendrocyte myelin glycoprotein JBrowse link 12 43,568,420 43,572,566 RGD:9068941
G OTC ornithine carbamoyltransferase JBrowse link X 34,322,398 34,391,711 RGD:9068941
G PARP10 poly(ADP-ribose) polymerase family member 10 JBrowse link 4 688,511 695,808 RGD:9068941
G PCCB propionyl-CoA carboxylase subunit beta JBrowse link 13 77,217,481 77,314,779 RGD:9068941
G PCDH19 protocadherin 19 JBrowse link X 82,031,365 82,153,159 RGD:9068941
G PCNT pericentrin RGD:9068941
G PDPR pyruvate dehydrogenase phosphatase regulatory subunit JBrowse link 6 13,187,377 13,230,601 RGD:9068941
G PDZD2 PDZ domain containing 2 JBrowse link 16 17,940,113 18,355,540 RGD:9068941
G PGAP3 post-GPI attachment to proteins phospholipase 3 JBrowse link 12 22,630,391 22,647,820 RGD:9068941
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q JBrowse link 3 41,164,399 41,177,453 RGD:9068941
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 2 59,637,363 59,652,075 RGD:9068941
G PMP22 peripheral myelin protein 22 JBrowse link 12 58,679,773 58,734,195 RGD:9068941
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 6 54,870,359 54,880,814 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 7 54,889,150 54,907,167 RGD:9068941
G PRORP protein only RNase P catalytic subunit JBrowse link 7 64,620,514 64,763,272 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 88,074,861 88,101,925 RGD:9068941
G PRRT2 proline rich transmembrane protein 2 JBrowse link 3 18,048,614 18,052,481 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 14 99,929,590 100,021,619 RGD:9068941
G PTPN23 protein tyrosine phosphatase non-receptor type 23 JBrowse link 13 30,190,659 30,252,980 RGD:9068941
G PURA purine rich element binding protein A JBrowse link 2 141,877,775 141,899,259 RGD:9068941
G RAB11FIP4 RAB11 family interacting protein 4 JBrowse link 12 43,360,758 43,474,235 RGD:9068941
G RNASEH2B ribonuclease H2 subunit B JBrowse link 11 16,825,799 16,911,959 RGD:9068941
G RNF135 ring finger protein 135 JBrowse link 12 42,793,755 42,808,937 RGD:9068941
G RPS6KA3 ribosomal protein S6 kinase A3 JBrowse link X 16,452,401 16,576,854 RGD:9068941
G RPS6KC1 ribosomal protein S6 kinase C1 JBrowse link 9 130,222,631 130,453,584 RGD:9068941
G RUBCN rubicon autophagy regulator JBrowse link 13 134,299,971 134,363,620 RGD:9068941
G SATB2 SATB homeobox 2 JBrowse link 15 102,962,635 103,172,224 RGD:9068941
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 5 16,977,468 17,173,831 RGD:9068941
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 15 72,745,706 72,912,352 RGD:9068941
G SHANK3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 5 41,376 93,033 RGD:9068941
G SLC13A5 solute carrier family 13 member 5 JBrowse link 12 50,679,900 50,710,985 RGD:9068941
G SLC1A3 solute carrier family 1 member 3 JBrowse link 16 21,873,691 21,965,315 RGD:9068941
G SLC25A22 solute carrier family 25 member 22 JBrowse link 2 491,288 498,773 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 6 168,535,398 168,561,170 RGD:9068941
G SLC33A1 solute carrier family 33 member 1 JBrowse link 13 95,690,453 95,724,239 RGD:9068941
G SLC35F1 solute carrier family 35 member F1 JBrowse link 1 43,653,453 44,057,851 RGD:9068941
G SLC4A4 solute carrier family 4 member 4 JBrowse link 8 67,768,955 68,177,213 RGD:9068941
G SLC6A8 solute carrier family 6 member 8 JBrowse link X 124,435,282 124,452,182 RGD:9068941
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 2 69,717,175 69,810,301 RGD:9068941
G SMC1A structural maintenance of chromosomes 1A JBrowse link X 46,143,738 46,202,187 RGD:9068941
G SMG9 SMG9 nonsense mediated mRNA decay factor JBrowse link 6 50,550,743 50,569,753 RGD:9068941
G SON SON DNA and RNA binding protein JBrowse link 13 197,162,075 197,193,417 RGD:9068941
G SPTBN4 spectrin beta, non-erythrocytic 4 JBrowse link 6 48,729,839 48,812,799 RGD:9068941
G ST7 suppression of tumorigenicity 7 JBrowse link 18 29,028,416 29,285,495 RGD:9068941
G STAMBP STAM binding protein JBrowse link 3 69,156,012 69,188,256 RGD:9068941
G STXBP1 syntaxin binding protein 1 JBrowse link 1 268,116,124 268,205,805 RGD:9068941
G SUCLA2 succinate-CoA ligase ADP-forming beta subunit JBrowse link 11 19,616,415 19,670,667 RGD:9068941
G SYNGAP1 synaptic Ras GTPase activating protein 1 JBrowse link 7 29,723,745 29,752,351 RGD:9068941
G TAF6 TATA-box binding protein associated factor 6 JBrowse link 3 8,017,675 8,026,982 RGD:9068941
G TASP1 taspase 1 JBrowse link 17 21,963,369 22,358,444 RGD:9068941
G TBCD tubulin folding cofactor D JBrowse link 12 327,009 449,375 RGD:9068941
G TBCK TBC1 domain containing kinase JBrowse link 8 115,476,776 115,703,011 RGD:9068941
G TCF4 transcription factor 4 JBrowse link 1 104,718,809 105,079,919 RGD:9068941
G TCTN1 tectonic family member 1 JBrowse link 14 31,953,996 32,010,202 RGD:9068941
G TEFM transcription elongation factor, mitochondrial JBrowse link 12 42,864,582 42,875,705 RGD:9068941
G TMEM47 transmembrane protein 47 JBrowse link X 30,584,044 30,615,233 RGD:9068941
G TMEM67 transmembrane protein 67 JBrowse link 4 42,878,249 42,931,106 RGD:9068941
G TMEM92 transmembrane protein 92 JBrowse link 12 26,466,613 26,472,865 RGD:9068941
G TNRC6B trinucleotide repeat containing adaptor 6B JBrowse link 5 8,052,434 8,311,811 RGD:9068941
G TRH thyrotropin releasing hormone JBrowse link 13 69,362,892 69,366,183 RGD:9068941
G TRPM3 transient receptor potential cation channel subfamily M member 3 JBrowse link 1 223,833,263 224,682,424 RGD:9068941
G TSEN15 tRNA splicing endonuclease subunit 15 JBrowse link 9 125,300,273 125,396,965 RGD:9068941
G TSEN54 tRNA splicing endonuclease subunit 54 JBrowse link 12 5,847,170 5,855,791 RGD:9068941
G TUBA1A tubulin alpha 1a JBrowse link 5 15,186,059 15,190,211 RGD:9068941
G UBE3A ubiquitin protein ligase E3A JBrowse link 1 141,887,179 142,001,595 RGD:9068941
G UNC80 unc-80 homolog, NALCN channel complex subunit JBrowse link 15 112,463,832 112,717,510 RGD:9068941
G VPS13B vacuolar protein sorting 13 homolog B JBrowse link 4 37,085,929 37,821,159 RGD:9068941
G WDFY4 WDFY family member 4 JBrowse link 14 89,353,362 89,632,722 RGD:9068941
G WDR37 WD repeat domain 37 JBrowse link 10 68,416,058 68,529,662 RGD:9068941
G WDR45 WD repeat domain 45 JBrowse link X 43,150,691 43,155,981 RGD:9068941
G WDR70 WD repeat domain 70 JBrowse link 16 22,599,904 22,891,927 RGD:9068941
G WWOX WW domain containing oxidoreductase JBrowse link 6 8,910,209 9,871,048 RGD:9068941
3MC syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COLEC10 collectin subfamily member 10 JBrowse link 4 19,692,990 20,143,740 RGD:7240710
RGD:9068941
G COLEC11 collectin subfamily member 11 JBrowse link 3 131,226,941 131,254,555 RGD:9068941
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 13 124,938,469 125,028,440 RGD:9068941
AGAT deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DUOX1 dual oxidase 1 JBrowse link 1 126,572,533 126,603,084 RGD:9068941
G DUOX2 dual oxidase 2 JBrowse link 1 126,620,468 126,641,406 RGD:9068941
G DUOXA1 dual oxidase maturation factor 1 JBrowse link 1 126,605,142 126,615,736 RGD:9068941
G DUOXA2 dual oxidase maturation factor 2 JBrowse link 1 126,616,631 126,620,359 RGD:9068941
G GATM glycine amidinotransferase JBrowse link 1 126,361,968 126,378,705 RGD:7240710
RGD:9068941
G SHF Src homology 2 domain containing F JBrowse link 1 126,549,736 126,570,657 RGD:9068941
G SLC28A2 solute carrier family 28 member 2 JBrowse link 1 126,472,500 126,511,207 RGD:9068941
G SORD sorbitol dehydrogenase JBrowse link 1 126,659,198 126,701,084 RGD:9068941
G TERB2 telomere repeat binding bouquet formation protein 2 JBrowse link 1 126,738,520 126,767,948 RGD:9068941
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 8 119,429,181 119,754,615 RGD:7240710
RGD:9068941
Bainbridge-Ropers Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ASXL3 ASXL transcriptional regulator 3 JBrowse link 6 117,334,177 117,518,589 RGD:7240710
RGD:9068941
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G THOC6 THO complex 6 JBrowse link 3 39,161,442 39,164,631 RGD:7240710
RGD:9068941
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 2 100,477,770 100,893,594 RGD:9068941
G KIAA0825 KIAA0825 ortholog JBrowse link 2 100,935,165 101,291,983 RGD:9068941
G NR2F1 nuclear receptor subfamily 2 group F member 1 JBrowse link 2 100,447,661 100,457,510 RGD:7240710
RGD:9068941
G POU5F2 POU domain class 5, transcription factor 2 JBrowse link 2 100,602,508 100,624,006 RGD:9068941
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPS23 ribosomal protein S23 JBrowse link 2 90,679,038 90,680,681 RGD:7240710
RGD:9068941
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 13 32,845,110 32,988,851 RGD:7240710
RGD:9068941
G LOC100517372 cytochrome b561 domain-containing protein 2 JBrowse link 13 32,834,206 32,837,007 RGD:9068941
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 14 79,345,382 80,106,337 RGD:7240710
RGD:9068941
Cerebellar Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARID1A AT-rich interaction domain 1A JBrowse link 6 84,049,729 84,124,302 RGD:9068941
G BCOR BCL6 corepressor JBrowse link X 35,768,013 35,891,013 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:9068941
G KCTD3 potassium channel tetramerization domain containing 3 JBrowse link 10 5,754,180 5,815,126 RGD:9068941
G LOC100525876 ATPase family AAA domain-containing protein 3 JBrowse link 6 63,706,155 63,721,574 RGD:9068941
G OPHN1 oligophrenin 1 JBrowse link X 54,056,504 54,617,045 RGD:9068941
G OXR1 oxidation resistance 1 JBrowse link 4 30,735,844 31,254,952 RGD:9068941
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 8 19,097,788 19,162,246 RGD:9068941
G TSEN54 tRNA splicing endonuclease subunit 54 JBrowse link 12 5,847,170 5,855,791 RGD:9068941
G VLDLR very low density lipoprotein receptor JBrowse link 1 219,178,501 219,210,332 RGD:9068941
G WDR37 WD repeat domain 37 JBrowse link 10 68,416,058 68,529,662 RGD:9068941
Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit RGD:7240710
RGD:9068941
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100513346 mitochondrial import inner membrane translocase subunit TIM16 JBrowse link 3 37,928,098 38,005,619 RGD:7240710
RGD:9068941
chromosome 13q14 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACOD1 aconitate decarboxylase 1 JBrowse link 11 49,077,152 49,088,218 RGD:9068941
G ALG11 ALG11 alpha-1,2-mannosyltransferase JBrowse link 11 15,851,352 15,876,452 RGD:9068941
G ARL11 ADP ribosylation factor like GTPase 11 JBrowse link 11 18,097,723 18,100,425 RGD:9068941
G ATP7B ATPase copper transporting beta JBrowse link 11 15,892,549 15,942,070 RGD:9068941
G BORA BORA aurora kinase A activator JBrowse link 11 45,017,651 45,045,127 RGD:9068941
G CAB39L calcium binding protein 39 like JBrowse link 11 18,297,669 18,400,398 RGD:9068941
G CCDC70 coiled-coil domain containing 70 JBrowse link 11 15,976,814 15,978,050 RGD:9068941
G CDADC1 cytidine and dCMP deaminase domain containing 1 JBrowse link 11 18,467,508 18,518,137 RGD:9068941
G CKAP2 cytoskeleton associated protein 2 JBrowse link 11 15,751,717 15,767,068 RGD:9068941
G CLN5 CLN5 intracellular trafficking protein JBrowse link 11 49,105,822 49,128,425 RGD:9068941
G CNMD chondromodulin JBrowse link 11 25,959,192 25,994,773 RGD:9068941
G COMMD6 COMM domain containing 6 JBrowse link 11 47,795,110 47,818,543 RGD:9068941
G CYSLTR2 cysteinyl leukotriene receptor 2 JBrowse link 11 18,988,665 19,011,015 RGD:9068941
G DACH1 dachshund family transcription factor 1 JBrowse link 11 43,765,386 44,187,766 RGD:9068941
G DIAPH3 diaphanous related formin 3 JBrowse link 11 32,492,735 32,994,854 RGD:9068941
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link 11 45,046,040 45,075,973 RGD:9068941
G DLEU7 deleted in lymphocytic leukemia 7 JBrowse link 11 16,970,802 16,990,609 RGD:9068941
G EBPL EBP like JBrowse link 11 18,039,978 18,150,729 RGD:9068941
G EDNRB endothelin receptor type B JBrowse link 11 50,073,300 50,102,879 RGD:9068941
G FAM124A family with sequence similarity 124 member A JBrowse link 11 16,572,298 16,658,094 RGD:9068941
G FBXL3 F-box and leucine rich repeat protein 3 JBrowse link 11 49,131,663 49,151,380 RGD:9068941
G FNDC3A fibronectin type III domain containing 3A JBrowse link 11 18,564,280 18,757,742 RGD:9068941
G INTS6 integrator complex subunit 6 JBrowse link 11 16,373,376 16,468,246 RGD:9068941
G ITM2B integral membrane protein 2B JBrowse link 11 19,349,088 19,377,931 RGD:9068941
G KCNRG potassium channel regulator JBrowse link 11 17,784,243 17,796,826 RGD:9068941
G KCTD12 potassium channel tetramerization domain containing 12 JBrowse link 11 49,025,134 49,033,208 RGD:9068941
G KLF12 Kruppel like factor 12 JBrowse link 11 45,981,096 46,655,472 RGD:9068941
G KLF5 Kruppel like factor 5 JBrowse link 11 45,370,009 45,386,673 RGD:9068941
G KLHL1 kelch like family member 1 JBrowse link 11 42,033,842 42,420,931 RGD:9068941
G KPNA3 karyopherin subunit alpha 3 JBrowse link 11 17,948,210 18,033,818 RGD:9068941
G LMO7 LIM domain 7 JBrowse link 11 47,911,076 48,133,449 RGD:9068941
G LOC100155738 protocadherin-8 JBrowse link 11 26,127,398 26,133,481 RGD:9068941
G LOC106505279 uncharacterized LOC106505279 JBrowse link 11 16,021,127 16,034,650 RGD:9068941
G LPAR6 lysophosphatidic acid receptor 6 JBrowse link 11 19,216,305 19,220,913 RGD:9068941
G MED4 mediator complex subunit 4 JBrowse link 11 19,551,858 19,566,915 RGD:9068941
G MIR15A microRNA mir-15a JBrowse link 11 17,757,463 17,757,541 RGD:9068941
G MIR16-2 microRNA mir-16-2 JBrowse link 11 17,757,606 17,757,684 RGD:9068941
G MLNR motilin receptor JBrowse link 11 18,541,958 18,544,111 RGD:9068941
G MYCBP2 MYC binding protein 2 JBrowse link 11 49,163,969 49,432,865 RGD:9068941
G MZT1 mitotic spindle organizing protein 1 JBrowse link 11 45,000,735 45,019,009 RGD:9068941
G NDFIP2 Nedd4 family interacting protein 2 JBrowse link 11 51,493,981 51,560,305 RGD:9068941
G NEK3 NIMA related kinase 3 JBrowse link 11 15,772,578 15,798,424 RGD:9068941
G NEK5 NIMA related kinase 5 JBrowse link 11 15,799,068 15,862,236 RGD:9068941
G NUDT15 nudix hydrolase 15 JBrowse link 11 19,572,963 19,584,565 RGD:9068941
G OBI1 ORC ubiquitin ligase 1 JBrowse link 11 50,741,893 50,786,824 RGD:9068941
G OLFM4 olfactomedin 4 JBrowse link 11 26,252,948 26,375,531 RGD:9068941
G PCDH17 protocadherin 17 JBrowse link 11 30,510,779 30,611,732 RGD:9068941
G PCDH20 protocadherin 20 JBrowse link 11 34,384,507 34,390,265 RGD:9068941
G PCDH9 protocadherin 9 JBrowse link 11 38,522,221 39,455,166 RGD:9068941
G PHF11 PHD finger protein 11 JBrowse link 11 18,205,073 18,252,082 RGD:9068941
G PIBF1 progesterone immunomodulatory binding factor 1 JBrowse link 11 45,076,046 45,362,708 RGD:9068941
G POU4F1 POU class 4 homeobox 1 JBrowse link 11 50,729,746 50,732,626 RGD:9068941
G RB1 RB transcriptional corepressor 1 JBrowse link 11 19,186,754 19,317,642 RGD:9068941
G RBM26 RNA binding motif protein 26 JBrowse link 11 51,337,388 51,421,746 RGD:9068941
G RCBTB1 RCC1 and BTB domain containing protein 1 JBrowse link 11 18,132,013 18,197,759 RGD:9068941
G RCBTB2 RCC1 and BTB domain containing protein 2 JBrowse link 11 19,081,841 19,182,488 RGD:9068941
G RNASEH2B ribonuclease H2 subunit B JBrowse link 11 16,825,799 16,911,959 RGD:9068941
G SCEL sciellin JBrowse link 11 49,651,589 49,777,777 RGD:9068941
G SERPINE3 serpin family E member 3 JBrowse link 11 16,465,521 16,500,580 RGD:9068941
G SETDB2 SET domain bifurcated histone lysine methyltransferase 2 JBrowse link 11 18,252,525 18,298,234 RGD:9068941
G SLAIN1 SLAIN motif family member 1 JBrowse link 11 49,807,976 49,886,829 RGD:9068941
G SLITRK1 SLIT and NTRK like family member 1 JBrowse link 11 54,950,669 54,955,768 RGD:9068941
G SLITRK6 SLIT and NTRK like family member 6 JBrowse link 11 56,508,713 56,522,270 RGD:9068941
G SPRY2 sprouty RTK signaling antagonist 2 JBrowse link 11 52,153,695 52,158,766 RGD:9068941
G SPRYD7 SPRY domain containing 7 JBrowse link 11 17,849,011 17,870,090 RGD:9068941
G SUCLA2 succinate-CoA ligase ADP-forming beta subunit JBrowse link 11 19,616,415 19,670,667 RGD:9068941
G SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone JBrowse link 11 25,905,442 25,960,665 RGD:9068941
G TBC1D4 TBC1 domain family member 4 JBrowse link 11 47,543,808 47,760,928 RGD:9068941
G TDRD3 tudor domain containing 3 JBrowse link 11 33,257,556 33,440,131 RGD:9068941
G THSD1 thrombospondin type 1 domain containing 1 JBrowse link 11 15,668,435 15,698,031 RGD:9068941
G TRIM13 tripartite motif containing 13 JBrowse link 11 17,785,031 17,850,005 RGD:9068941
G UCHL3 ubiquitin C-terminal hydrolase L3 JBrowse link 11 47,829,037 47,885,800 RGD:9068941
G VPS36 vacuolar protein sorting 36 homolog JBrowse link 11 15,701,370 15,735,469 RGD:9068941
G WDFY2 WD repeat and FYVE domain containing 2 JBrowse link 11 16,086,872 16,272,513 RGD:9068941
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 12 46,709,840 46,895,819 RGD:9068941
G BHLHA9 basic helix-loop-helix family member a9 JBrowse link 12 46,641,389 46,643,923 RGD:9068941
G CRK CRK proto-oncogene, adaptor protein JBrowse link 12 47,656,805 47,685,641 RGD:9068941
G TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 JBrowse link 12 46,623,712 46,634,115 RGD:9068941
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon JBrowse link 12 47,601,133 47,645,327 RGD:9068941
Cohen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VPS13B vacuolar protein sorting 13 homolog B JBrowse link 4 37,085,929 37,821,159 RGD:7240710
RGD:9068941
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 11 69,710,355 70,023,020 RGD:7240710
RGD:9068941
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 18 54,310,311 54,430,060 RGD:7240710
RGD:9068941
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATN1 atrophin 1 JBrowse link 5 63,782,159 63,795,648 RGD:7240710
RGD:9068941
Desanto-Shinawi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WAC WW domain containing adaptor with coiled-coil JBrowse link 10 39,932,562 40,024,114 RGD:7240710
RGD:9068941
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 3 5,903,205 6,029,343 RGD:7240710
RGD:9068941
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 1 87,289,964 87,329,926 RGD:9068941
G PHIP pleckstrin homology domain interacting protein JBrowse link 1 87,116,884 87,247,500 RGD:7240710
RGD:9068941
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GSX2 GS homeobox 2 JBrowse link 8 40,880,093 40,883,928 RGD:7240710
RGD:9068941
Dyskinesias, Seizures, and Intellectual Developmental Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DEAF1 DEAF1 transcription factor JBrowse link 2 404,514 427,584 RGD:7240710
RGD:9068941
Forebrain Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRRC2 leucine rich repeat containing 2 JBrowse link 13 29,477,790 29,524,177 RGD:9068941
G TDGF1 teratocarcinoma-derived growth factor 1 JBrowse link 13 29,537,874 29,544,686 RGD:9068941
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 3 9,317,145 9,669,999 RGD:7240710
RGD:9068941
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZNF148 zinc finger protein 148 JBrowse link 13 134,968,774 135,093,828 RGD:7240710
RGD:9068941
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 7 116,361,630 116,436,471 RGD:7240710
RGD:9068941
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLS glutaminase JBrowse link 15 95,513,414 95,606,029 RGD:7240710
RGD:9068941
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 6 31,177,112 31,564,674 RGD:7240710
RGD:9068941
G RPGRIP1L RPGRIP1 like JBrowse link 6 31,564,937 31,660,540 RGD:9068941
Heyn-Sproul-Jackson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNMT3A DNA methyltransferase 3 alpha JBrowse link 3 113,501,972 113,609,148 RGD:9068941
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADK adenosine kinase JBrowse link 14 76,836,072 77,320,586 RGD:7240710
RGD:9068941
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 3 40,397,807 40,420,960 RGD:7240710
RGD:9068941
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EBF3 EBF transcription factor 3 JBrowse link 14 138,819,846 138,935,504 RGD:7240710
RGD:9068941
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 8 475,164 496,510 RGD:7240710
RGD:9068941
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 15 82,967,485 83,146,185 RGD:7240710
RGD:9068941
Kat6a Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KAT6A lysine acetyltransferase 6A JBrowse link 17 11,002,818 11,109,974 RGD:9068941
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 13 201,231,803 201,525,943 RGD:7240710
RGD:9068941
Lamb-Shaffer Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOX5 SRY-box transcription factor 5 JBrowse link 5 49,159,950 50,166,463 RGD:7240710
RGD:9068941
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDK5 cyclin dependent kinase 5 JBrowse link 18 6,166,914 6,171,157 RGD:7240710
RGD:9068941
Loucks-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DPH1 diphthamide biosynthesis 1 JBrowse link 12 48,146,364 48,157,436 RGD:7240710
RGD:9068941
Luscan-Lumish syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SETD2 SET domain containing 2, histone lysine methyltransferase JBrowse link 13 29,884,708 29,996,285 RGD:7240710
RGD:9068941
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 2 30,605,503 30,615,997 RGD:7240710
RGD:9068941
microcephaly, seizures, and developmental delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 6 54,870,359 54,880,814 RGD:7240710
RGD:9068941
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 3 39,981,938 39,984,451 RGD:7240710
RGD:9068941
G RYR1 ryanodine receptor 1 JBrowse link 6 47,339,759 47,458,457 RGD:9068941
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 4 41,820,718 41,878,857 RGD:7240710
RGD:9068941
Obesity, Hyperphagia, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 10 30,030,050 30,429,938 RGD:7240710
RGD:9068941
Ogden syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit JBrowse link X 124,658,429 124,662,744 RGD:7240710
RGD:9068941
Oliver-McFarlane syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 2 71,577,165 71,602,756 RGD:7240710
RGD:9068941
Osteosclerotic Metaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRRK1 leucine rich repeat kinase 1 JBrowse link 1 139,494,126 139,624,609 RGD:9068941
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 1 162,364,053 162,736,515 RGD:9068941
Pierpont syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBL1XR1 TBL1X receptor 1 JBrowse link 13 115,312,444 115,488,228 RGD:7240710
RGD:9068941
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 14 50,390,416 50,491,983 RGD:7240710
RGD:9068941
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 13 31,715,686 31,723,200 RGD:7240710
RGD:9068941
pseudo-TORCH syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OCLN occludin JBrowse link 16 47,600,175 47,652,435 RGD:7240710
RGD:9068941
Pseudo-TORCH Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G USP18 ubiquitin specific peptidase 18 JBrowse link 5 70,183,321 70,227,990 RGD:7240710
RGD:9068941
Rajab Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FARSB phenylalanyl-tRNA synthetase subunit beta JBrowse link 15 124,472,236 124,555,042 RGD:7240710
RGD:9068941
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 9 45,863,772 45,897,525 RGD:7240710
RGD:9068941
Short Stature, Developmental Delay, and Congenital Heart Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TKT transketolase JBrowse link 13 35,348,921 35,377,518 RGD:7240710
RGD:9068941
SIDDIQI SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FITM2 fat storage inducing transmembrane protein 2 JBrowse link 17 46,742,662 46,745,898 RGD:7240710
RGD:9068941
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 13 59,647,835 59,736,054 RGD:7240710
RGD:9068941
SNIJDERS BLOK-FISHER SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POU3F3 POU class 3 homeobox 3 JBrowse link 3 49,804,112 49,807,730 RGD:7240710
RGD:9068941
succinic semialdehyde dehydrogenase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 JBrowse link 7 19,351,485 19,375,515 RGD:7240710
RGD:9068941
G GPLD1 glycosylphosphatidylinositol specific phospholipase D1 JBrowse link 7 19,289,385 19,355,606 RGD:9068941
Ter Haar Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SH3PXD2B SH3 and PX domains 2B JBrowse link 16 51,733,170 51,858,774 RGD:7240710
RGD:9068941
Turnpenny-Fry Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCGF2 polycomb group ring finger 2 JBrowse link 12 23,362,631 23,375,779 RGD:7240710
RGD:9068941
VERVERI-BRADY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G QRICH1 glutamine rich 1 JBrowse link 13 31,663,812 31,714,523 RGD:7240710
RGD:9068941
WEISS-KRUSZKA SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZNF462 zinc finger protein 462 JBrowse link 1 248,029,136 248,181,792 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12055
    Developmental Diseases 8374
      Neurodevelopmental Disorders 4082
        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 + 15
          Cerebellofaciodental Syndrome 1
          Chitayat Moore Del Bigio Syndrome 0
          Chitty Hall Webb Syndrome 0
          Chondrodysplasia, Megarbane-Dagher-Melki Type 1
          Cohen syndrome 1
          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 74
          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 12055
    disease of anatomical entity 11715
      nervous system disease 9412
        central nervous system disease 7827
          brain disease 7218
            disease of mental health 5301
              Neurodevelopmental Disorders 4082
                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 + 15
                  Cerebellofaciodental Syndrome 1
                  Chitayat Moore Del Bigio Syndrome 0
                  Chitty Hall Webb Syndrome 0
                  Chondrodysplasia, Megarbane-Dagher-Melki Type 1
                  Cohen syndrome 1
                  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 74
                  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.