ONTOLOGY REPORT - ANNOTATIONS


Term:specific developmental disorder
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Accession:DOID:0060038 term browser browse the term
Definition:A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. (DO)
Synonyms:primary_id: RDO:9003242
For additional species annotation, visit the Alliance of Genome Resources.


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16p11.2 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:8554872
G Asphd1 aspartate beta-hydroxylase domain containing 1 JBrowse link 1 198,379,060 198,382,982 RGD:8554872
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase JBrowse link 1 198,409,186 198,413,497 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:8554872
G Doc2a double C2 domain alpha JBrowse link 1 198,282,828 198,288,611 RGD:8554872
G Fam57b family with sequence similarity 57, member B JBrowse link 1 198,252,208 198,265,840 RGD:8554872
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 1 198,199,032 198,209,178 RGD:8554872
G Hirip3 HIRA interacting protein 3 JBrowse link 1 198,298,138 198,301,164 RGD:8554872
G Ino80e INO80 complex subunit E JBrowse link 1 198,287,489 198,298,076 RGD:8554872
G Kctd13 potassium channel tetramerization domain containing 13 JBrowse link 1 198,360,627 198,378,935 RGD:8554872
G Kif22 kinesin family member 22 JBrowse link 1 198,461,406 198,476,430 RGD:8554872
G LOC308990 hypothetical protein LOC308990 JBrowse link 1 198,528,569 198,531,585 RGD:8554872
G Mapk3 mitogen activated protein kinase 3 JBrowse link 1 198,192,773 198,198,975 RGD:8554872
G Maz MYC associated zinc finger protein JBrowse link 1 198,456,699 198,460,126 RGD:8554872
G Mvp major vault protein JBrowse link 1 198,420,813 198,448,612 RGD:8554872
G Pagr1 Paxip1-associated glutamate-rich protein 1 JBrowse link 1 198,448,790 198,451,078 RGD:8554872
G Ppp4c protein phosphatase 4, catalytic subunit JBrowse link 1 198,219,012 198,225,775 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:8554872
G Qprt quinolinate phosphoribosyltransferase JBrowse link 1 198,544,262 198,559,556 RGD:8554872
G RGD1563217 similar to RIKEN cDNA 4930451I11 JBrowse link 1 198,260,711 198,268,056 RGD:8554872
G Sez6l2 seizure related 6 homolog like 2 JBrowse link 1 198,383,201 198,403,544 RGD:8554872
G Spn sialophorin JBrowse link 1 198,572,999 198,585,664 RGD:8554872
G Taok2 TAO kinase 2 JBrowse link 1 198,301,789 198,354,601 RGD:8554872
G Tbx6 T-box 6 JBrowse link 1 198,214,797 198,218,706 RGD:8554872
G Tmem219 transmembrane protein 219 JBrowse link 1 198,322,276 198,360,552 RGD:8554872
G Ypel3 yippee-like 3 JBrowse link 1 198,210,525 198,213,821 RGD:8554872
G Zg16 zymogen granule protein 16 JBrowse link 1 198,483,800 198,486,157 RGD:8554872
Aarskog syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11554031
RGD:11554030
RGD:11554029
RGD:11554024
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
acrodysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase JBrowse link 10 97,962,467 98,017,171 RGD:8554872
G Pde4d phosphodiesterase 4D JBrowse link 2 40,219,999 41,468,551 RGD:8554872
RGD:11554173
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:8554872
RGD:11554173
Acrodysostosis 1, with or without Hormone Resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase JBrowse link 10 97,962,467 98,017,171 RGD:8554872
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:7240710
RGD:8554872
Acrodysostosis 2, with or without Hormone Resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Depdc1b DEP domain containing 1B JBrowse link 2 39,980,796 40,069,982 RGD:8554872
G Pde4d phosphodiesterase 4D JBrowse link 2 40,219,999 41,468,551 RGD:7240710
RGD:8554872
adrenoleukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd1 ATP binding cassette subfamily D member 1 JBrowse link X 157,073,860 157,095,652 RGD:1598655
RGD:8554872
RGD:11554173
RGD:7240710
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 JBrowse link 8 59,184,111 59,240,133 RGD:11065111
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Mmp10 matrix metallopeptidase 10 JBrowse link 8 5,734,348 5,742,243 RGD:13204814
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:13204814
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204814
G Pex13 peroxisomal biogenesis factor 13 JBrowse link 14 108,394,299 108,411,994 RGD:11554173
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204814
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
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase JBrowse link 9 78,862,013 78,882,061 RGD:8554872
RGD:7240710
RGD:11554173
AL-RAQAD SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcps decapping enzyme, scavenger JBrowse link 8 36,321,992 36,374,665 RGD:7240710
RGD:8554872
Alacrima, Achalasia, and Mental Retardation Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppa GDP-mannose pyrophosphorylase A JBrowse link 9 82,632,267 82,639,811 RGD:7240710
RGD:8554872
Alazami Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Larp7 La ribonucleoprotein domain family, member 7 JBrowse link 2 231,866,888 231,882,002 RGD:7240710
RGD:8554872
ALAZAMI-YUAN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 12 19,320,269 19,328,706 RGD:8554872
RGD:7240710
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a2 solute carrier family 16 member 2 JBrowse link X 74,578,600 74,706,068 RGD:7240710
RGD:8554872
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbm28 RNA binding motif protein 28 JBrowse link 4 56,398,769 56,438,442 RGD:7240710
RGD:8554872
Alopecia-Mental Retardation Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahsg alpha-2-HS-glycoprotein JBrowse link 11 81,711,269 81,717,594 RGD:8554872
RGD:7240710
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link 8 103,673,578 103,770,886 RGD:8554872
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:7240710
RGD:8554872
RGD:9586030
RGD:9586029
RGD:9586027
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:7240710
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:11554173
RGD:8554872
anorexia nervosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap6 A-kinase anchoring protein 6 JBrowse link 6 73,553,111 73,991,992 RGD:14349024
G Htr2a 5-hydroxytryptamine receptor 2A JBrowse link 15 56,666,152 56,732,469 RGD:7240710
RGD:11554173
G Htr4 5-hydroxytryptamine receptor 4 JBrowse link 18 57,637,013 57,820,317 RGD:13592920
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:12910859
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 JBrowse link 18 31,728,373 32,704,022 RGD:7174723
aphasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:11554173
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11554173
apraxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link 14 108,826,717 108,921,197 RGD:11554173
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11554173
RGD:8554872
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc35a3 solute carrier family 35 member A3 JBrowse link 2 219,705,618 219,741,886 RGD:7240710
RGD:8554872
articulation disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:11529633
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11535989
Arts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:12910562
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:7240710
RGD:8554872
RGD:10054301
RGD:10054300
RGD:1599207
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 JBrowse link 10 55,013,686 55,078,986 RGD:7240710
RGD:8554872
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 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
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
Atkin Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqsec2 IQ motif and Sec7 domain 2 JBrowse link X 22,212,137 22,293,810 RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
Attention Deficit and Disruptive Behavior Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Drd4 dopamine receptor D4 JBrowse link 1 214,278,296 214,282,818 RGD:11554173
RGD:13210522
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:11554173
attention deficit hyperactivity disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp1 acid phosphatase 1 JBrowse link 6 49,836,064 49,851,714 RGD:1358577
G Adgrl3 adhesion G protein-coupled receptor L3 JBrowse link 14 28,362,176 29,226,085 RGD:11554173
G Adra2a adrenoceptor alpha 2A JBrowse link 1 274,766,283 274,769,083 RGD:1559309
RGD:6480484
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:6907129
G As3mt arsenite methyltransferase JBrowse link 1 266,482,787 266,514,570 RGD:11554173
G Baiap2 BAI1-associated protein 2 JBrowse link 10 109,107,326 109,187,458 RGD:11576297
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:10059388
G Brinp1 BMP/retinoic acid inducible neural specific 1 JBrowse link 5 84,919,416 85,123,828 RGD:13592920
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 JBrowse link 10 67,862,054 67,863,255 RGD:13592920
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:11554173
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 2 189,088,570 189,096,785 RGD:11554173
G Cic capicua transcriptional repressor JBrowse link 1 82,135,440 82,163,007 RGD:11554173
G Cnr1 cannabinoid receptor 1 JBrowse link 5 49,307,584 49,333,064 RGD:11554173
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:11554173
RGD:13451120
RGD:13450946
RGD:13450945
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:5129083
G Csnk1d casein kinase 1, delta JBrowse link 10 110,147,786 110,182,413 RGD:13592920
G Dbh dopamine beta-hydroxylase JBrowse link 3 5,709,236 5,731,895 RGD:1358584
G Dcdc2 doublecortin domain containing 2 JBrowse link 17 41,838,201 42,031,265 RGD:12910980
G Ddc dopa decarboxylase JBrowse link 14 91,905,919 91,996,816 RGD:5129083
G Deaf1 DEAF1 transcription factor JBrowse link 1 214,283,787 214,317,466 RGD:8554872
G Dock3 dedicator of cyto-kinesis 3 JBrowse link 8 115,627,282 115,982,260 RGD:1358592
G Drd2 dopamine receptor D2 JBrowse link 8 53,678,777 53,743,643 RGD:11554173
G Drd4 dopamine receptor D4 JBrowse link 1 214,278,296 214,282,818 RGD:13210521
RGD:13210583
RGD:13210577
RGD:13210511
RGD:13210510
RGD:13210507
RGD:11554173
RGD:7248607
RGD:7248606
RGD:7248596
RGD:7240710
RGD:5686422
RGD:1358609
RGD:2311591
RGD:1358608
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:5686411
RGD:11554173
RGD:7240710
RGD:5686417
RGD:1358609
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:11554173
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11535980
G Git1 GIT ArfGAP 1 JBrowse link 10 62,656,000 62,664,467 RGD:11344918
RGD:11554173
G Gnb5 G protein subunit beta 5 JBrowse link 8 82,248,951 82,286,493 RGD:8554872
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:13210768
RGD:13432033
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:11554173
G Grm5 glutamate metabotropic receptor 5 JBrowse link 1 151,207,846 151,785,038 RGD:11554173
G Grm7 glutamate metabotropic receptor 7 JBrowse link 4 142,452,616 143,368,460 RGD:11554173
G Grm8 glutamate metabotropic receptor 8 JBrowse link 4 54,474,344 55,409,526 RGD:6484664
RGD:11554173
G Hdac5 histone deacetylase 5 JBrowse link 10 90,140,183 90,169,853 RGD:5129083
G Htr1b 5-hydroxytryptamine receptor 1B JBrowse link 8 89,113,984 89,130,830 RGD:1358660
G Lgals3 galectin 3 JBrowse link 15 24,153,602 24,165,537 RGD:9685226
G Maged2 MAGE family member D2 JBrowse link 5 33,174,539 33,182,715 RGD:8554872
G Malrd1 MAM and LDL receptor class A domain containing 1 JBrowse link 17 82,430,836 83,156,696 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:5129083
RGD:8554872
G Mir96 microRNA 96 JBrowse link 4 57,463,366 57,463,471 RGD:11553930
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204849
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11565107
RGD:11565109
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link 17 5,934,651 6,245,778 RGD:10059388
G Per1 period circadian regulator 1 JBrowse link 10 55,681,761 55,696,557 RGD:13592920
G Plxdc2 plexin domain containing 2 JBrowse link 17 83,221,795 83,619,291 RGD:8554872
G Ptchd1 patched domain containing 1 JBrowse link X 42,558,912 42,610,430 RGD:13592920
G Ptprd protein tyrosine phosphatase, receptor type, D JBrowse link 5 92,862,229 93,514,071 RGD:11554173
G Scaper S-phase cyclin A-associated protein in the ER JBrowse link 8 60,127,039 60,593,568 RGD:8554872
G Slc6a3 solute carrier family 6 member 3 JBrowse link 1 32,323,011 32,363,983 RGD:1358582
RGD:11554173
G Snap25 synaptosome associated protein 25 JBrowse link 3 129,697,408 129,788,417 RGD:13592920
G Sts steroid sulfatase JBrowse link X 45,420,418 45,428,748 RGD:11554173
G Tacr1 tachykinin receptor 1 JBrowse link 4 113,247,236 113,416,139 RGD:11554173
G Thrb thyroid hormone receptor beta JBrowse link 15 8,890,578 9,239,815 RGD:13592920
G Thrsp thyroid hormone responsive JBrowse link 1 162,381,251 162,385,575 RGD:13592920
G Tmem47 transmembrane protein 47 JBrowse link X 48,779,110 48,805,644 RGD:8554872
G Tph1 tryptophan hydroxylase 1 JBrowse link 1 102,669,868 102,699,442 RGD:1580457
RGD:5686345
G Tph2 tryptophan hydroxylase 2 JBrowse link 7 58,042,279 58,149,220 RGD:7240710
RGD:8554872
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:1580558
Au-Kline Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpk heterogeneous nuclear ribonucleoprotein K JBrowse link 17 6,664,730 6,676,753 RGD:7240710
RGD:8554872
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdxr ferredoxin reductase JBrowse link 10 103,817,724 103,826,413 RGD:8554872
RGD:7240710
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph3 diaphanous-related formin 3 JBrowse link 15 69,928,507 70,400,077 RGD:7240710
RGD:8554872
autosomal dominant mental retardation 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mef2c myocyte enhancer factor 2C JBrowse link 2 11,658,534 11,822,788 RGD:7240710
RGD:8554872
autosomal dominant mental retardation 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cic capicua transcriptional repressor JBrowse link 1 82,135,440 82,163,007 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 46 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 JBrowse link 9 27,565,869 28,141,114 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stag1 stromal antigen 1 JBrowse link 8 108,958,099 109,342,738 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rac1 Rac family small GTPase 1 JBrowse link 12 13,090,316 13,111,841 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip12 thyroid hormone receptor interactor 12 JBrowse link 9 92,305,059 92,435,388 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit JBrowse link 2 140,471,437 140,534,259 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt5b lysine methyltransferase 5B JBrowse link 1 219,000,844 219,050,211 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ash1l ASH1 like histone lysine methyltransferase JBrowse link 2 188,252,592 188,389,251 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camk2a calcium/calmodulin-dependent protein kinase II alpha JBrowse link 18 56,193,978 56,295,869 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 54 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camk2b calcium/calmodulin-dependent protein kinase II beta JBrowse link 14 86,208,876 86,297,727 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 55 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit JBrowse link 20 33,557,052 33,584,011 RGD:8554872
RGD:7240710
autosomal dominant mental retardation 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cltc clathrin heavy chain JBrowse link 10 74,014,560 74,070,578 RGD:8554872
RGD:7240710
G Mmp20 matrix metallopeptidase 20 JBrowse link 8 5,823,147 5,875,555 RGD:8554872
Autosomal Dominant Mental Retardation 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tlk2 tousled-like kinase 2 JBrowse link 10 93,410,181 93,507,277 RGD:8554872
RGD:7240710
Autosomal Dominant Mental Retardation 58 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Set SET nuclear proto-oncogene JBrowse link 19 58,420,635 58,422,153 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auts2 activator of transcription and developmental regulator AUTS2 JBrowse link 12 27,155,362 28,252,752 RGD:13592920
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
G Mbd5 methyl-CpG binding domain protein 5 JBrowse link 3 33,364,812 33,504,144 RGD:13592920
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:13592920
G Zfp462 zinc finger protein 462 JBrowse link 5 71,679,841 71,824,077 RGD:8554872
autosomal dominant non-syndromic intellectual disability 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvr2a activin A receptor type 2A JBrowse link 3 32,947,901 33,034,598 RGD:8554872
G Arhgap15 Rho GTPase activating protein 15 JBrowse link 3 28,626,987 29,236,225 RGD:8554872
G Epc2 enhancer of polycomb homolog 2 JBrowse link 3 33,641,616 33,741,219 RGD:8554872
G Gtdc1 glycosyltransferase-like domain containing 1 JBrowse link 3 29,410,426 29,705,981 RGD:8554872
G Kif5c kinesin family member 5C JBrowse link 3 35,014,157 35,257,417 RGD:8554872
G Kynu kynureninase JBrowse link 3 28,416,926 28,566,939 RGD:8554872
G Mbd5 methyl-CpG binding domain protein 5 JBrowse link 3 33,364,812 33,504,144 RGD:7240710
RGD:8554872
RGD:11554204
G Orc4 origin recognition complex, subunit 4 JBrowse link 3 33,034,913 33,075,833 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:8554872
autosomal dominant non-syndromic intellectual disability 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 JBrowse link 7 119,228,112 119,353,332 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epb41l1 erythrocyte membrane protein band 4.1-like 1 JBrowse link 3 152,492,725 152,622,047 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Creb3l4 cAMP responsive element binding protein 3-like 4 JBrowse link 2 189,596,657 189,602,243 RGD:8554872
G Crtc2 CREB regulated transcription coactivator 2 JBrowse link 2 189,615,928 189,625,646 RGD:8554872
G Dennd4b DENN domain containing 4B JBrowse link 2 189,626,922 189,642,732 RGD:8554872
G Gatad2b GATA zinc finger domain containing 2B JBrowse link 2 189,654,871 189,735,056 RGD:7240710
RGD:8554872
G Jtb jumping translocation breakpoint JBrowse link 2 189,591,707 189,595,926 RGD:8554872
G Nup210l nucleoporin 210-like JBrowse link 2 189,453,932 189,571,918 RGD:8554872
G Rab13 RAB13, member RAS oncogene family JBrowse link 2 189,581,209 189,586,358 RGD:8554872
G Rps27 ribosomal protein S27 JBrowse link 2 189,572,175 189,573,280 RGD:8554872
G Slc39a1 solute carrier family 39 member 1 JBrowse link 2 189,609,766 189,615,367 RGD:8554872
autosomal dominant non-syndromic intellectual disability 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camta1 calmodulin binding transcription activator 1 JBrowse link 5 168,138,207 169,017,295 RGD:8554872
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock8 dedicator of cytokinesis 8 JBrowse link 1 242,934,685 243,153,472 RGD:7240710
autosomal dominant non-syndromic intellectual disability 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctcf CCCTC-binding factor JBrowse link 19 37,600,151 37,649,674 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Setd5 SET domain containing 5 JBrowse link 4 145,017,549 145,095,247 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Deaf1 DEAF1 transcription factor JBrowse link 1 214,283,787 214,317,466 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auts2 activator of transcription and developmental regulator AUTS2 JBrowse link 12 27,155,362 28,252,752 RGD:8554872
RGD:7240710
G Kmt2d lysine methyltransferase 2D JBrowse link 7 140,507,137 140,542,479 RGD:8554872
autosomal dominant non-syndromic intellectual disability 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox11 SRY box 11 JBrowse link 6 46,629,967 46,631,988 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Setbp1 SET binding protein 1 JBrowse link 18 75,090,733 75,432,446 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh15 cadherin 15 JBrowse link 19 55,669,661 55,689,986 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zmynd11 zinc finger, MYND-type containing 11 JBrowse link 17 63,825,616 63,914,740 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pura purine rich element binding protein A JBrowse link 18 29,104,712 29,114,918 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kat6a lysine acetyltransferase 6A JBrowse link 16 73,942,669 74,020,750 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpp6 dipeptidyl peptidase like 6 JBrowse link 4 4,021,021 4,943,675 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3bp collagen type IV alpha 3 binding protein JBrowse link 2 27,365,145 27,469,797 RGD:7240710
RGD:8554872
G Polk DNA polymerase kappa JBrowse link 2 27,305,718 27,364,906 RGD:8554872
autosomal dominant non-syndromic intellectual disability 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mea1 male-enhanced antigen 1 JBrowse link 9 16,610,312 16,614,153 RGD:8554872
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta JBrowse link 9 16,580,995 16,610,425 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha JBrowse link 1 60,717,386 60,736,629 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myt1l myelin transcription factor 1-like JBrowse link 6 48,452,385 48,843,443 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kirrel3 kirre like nephrin family adhesion molecule 3 JBrowse link 8 35,692,525 36,254,755 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Champ1 chromosome alignment maintaining phosphoprotein 1 JBrowse link 16 80,839,373 80,850,340 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 transducin (beta)-like 1 X-linked receptor 1 JBrowse link 2 107,221,913 107,359,229 RGD:7240710
autosomal dominant non-syndromic intellectual disability 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hivep2 human immunodeficiency virus type I enhancer binding protein 2 JBrowse link 1 8,129,354 8,333,890 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trio trio Rho guanine nucleotide exchange factor JBrowse link 2 80,471,398 80,769,313 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A JBrowse link 11 34,858,339 34,958,733 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 3 2,507,745 2,534,664 RGD:7240710
RGD:8554872
autosomal dominant non-syndromic intellectual disability 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:8554872
RGD:13434923
RGD:13434922
autosomal recessive cutis laxa type IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:13439710
RGD:8554872
RGD:7240710
autosomal recessive cutis laxa type IIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 10 109,817,300 109,822,218 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:7240710
RGD:8554872
autosomal recessive mental retardation 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rusc2 RUN and SH3 domain containing 2 JBrowse link 5 58,860,444 58,883,152 RGD:8554872
RGD:7240710
autosomal recessive non-syndromic intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ank3 ankyrin 3 JBrowse link 20 19,948,767 20,480,628 RGD:13592920
G Cc2d1a coiled-coil and C2 domain containing 1A JBrowse link 19 25,246,912 25,261,965 RGD:8554872
RGD:13592920
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain JBrowse link 7 36,395,665 36,408,588 RGD:13592920
G Crbn cereblon JBrowse link 4 138,864,910 138,885,786 RGD:13592920
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Eef1d eukaryotic translation elongation factor 1 delta JBrowse link 7 116,928,264 116,942,981 RGD:8554872
G Grik2 glutamate ionotropic receptor kainate type subunit 2 JBrowse link 20 53,791,428 54,517,691 RGD:13592920
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:13592920
G Kptn kaptin (actin binding protein) JBrowse link 1 78,015,714 78,016,508 RGD:13592920
G Lins1 lines homolog 1 JBrowse link 1 127,599,647 127,625,583 RGD:13592920
G Med23 mediator complex subunit 23 JBrowse link 1 21,539,765 21,587,675 RGD:13592920
G Mettl23 methyltransferase like 23 JBrowse link 10 105,787,935 105,793,307 RGD:13592920
G Mroh6 maestro heat-like repeat family member 6 JBrowse link 7 116,914,826 116,921,487 RGD:8554872
G Nsun2 NOP2/Sun RNA methyltransferase 2 JBrowse link 1 36,295,650 36,319,906 RGD:13592920
G Pgap1 post-GPI attachment to proteins 1 JBrowse link 9 61,066,170 61,134,963 RGD:13592920
G Prss12 serine protease 12 JBrowse link 2 227,657,983 227,717,884 RGD:13592920
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:13592920
G Taf2 TATA-box binding protein associated factor 2 JBrowse link 7 94,698,987 94,755,924 RGD:13592920
G Tecr trans-2,3-enoyl-CoA reductase JBrowse link 19 24,705,478 24,732,024 RGD:13592920
G Tti2 TELO2 interacting protein 2 JBrowse link 16 64,737,342 64,745,207 RGD:13592920
G Tusc3 tumor suppressor candidate 3 JBrowse link 16 56,248,125 56,396,491 RGD:13592920
G Washc4 WASH complex subunit 4 JBrowse link 7 26,309,279 26,361,221 RGD:13592920
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:7240710
RGD:8554872
Ayme-Gripp Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
RGD:7240710
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:13592920
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:13592920
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:7240710
RGD:8554872
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
RGD:7240710
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
Behr Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
RGD:7240710
Binge-Eating Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnr1 cannabinoid receptor 1 JBrowse link 5 49,307,584 49,333,064 RGD:11554173
G Drd1 dopamine receptor D1 JBrowse link 17 11,099,736 11,104,352 RGD:13506951
G Drd2 dopamine receptor D2 JBrowse link 8 53,678,777 53,743,643 RGD:13506951
G Drd4 dopamine receptor D4 JBrowse link 1 214,278,296 214,282,818 RGD:13506951
G Mc4r melanocortin 4 receptor JBrowse link 18 62,612,838 62,614,725 RGD:1600752
Birk-Barel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnk9 potassium two pore domain channel subfamily K member 9 JBrowse link 7 113,894,918 113,938,397 RGD:7240710
RGD:8554872
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
Bohring Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asxl1 ASXL transcriptional regulator 1 JBrowse link 3 148,832,231 148,902,356 RGD:7240710
RGD:8554872
RGD:11554173
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phf6 PHD finger protein 6 JBrowse link X 158,698,353 158,739,855 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
branched-chain keto acid dehydrogenase kinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Armc5 armadillo repeat containing 5 JBrowse link 1 199,655,069 199,662,419 RGD:8554872
G Bckdk branched chain ketoacid dehydrogenase kinase JBrowse link 1 199,351,628 199,356,299 RGD:7240710
RGD:8554872
G Bcl7c BAF chromatin remodeling complex subunit BCL7C JBrowse link 1 199,112,192 199,159,125 RGD:8554872
G Ccdc189 coiled-coil domain containing 189 JBrowse link 1 199,032,105 199,037,267 RGD:8554872
G Cox6a2 cytochrome c oxidase subunit 6A2 JBrowse link 1 199,624,037 199,626,255 RGD:8554872
G Ctf1 cardiotrophin 1 JBrowse link 1 199,162,319 199,168,296 RGD:8554872
G Fbrs fibrosin JBrowse link 1 198,925,265 198,938,939 RGD:8554872
G Fbxl19 F-box and leucine-rich repeat protein 19 JBrowse link 1 199,196,126 199,217,147 RGD:8554872
G Fus FUS RNA binding protein JBrowse link 1 199,412,805 199,426,705 RGD:8554872
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 JBrowse link 1 199,248,084 199,251,745 RGD:8554872
G Itgad integrin subunit alpha D JBrowse link 1 199,595,968 199,623,931 RGD:8554872
G Itgam integrin subunit alpha M JBrowse link 1 199,495,312 199,545,738 RGD:8554872
G Itgax integrin subunit alpha X JBrowse link 1 199,555,560 199,576,948 RGD:8554872
G Kat8 lysine acetyltransferase 8 JBrowse link 1 199,360,645 199,372,925 RGD:8554872
G Orai3 ORAI calcium release-activated calcium modulator 3 JBrowse link 1 199,217,504 199,222,363 RGD:8554872
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 JBrowse link 1 199,019,298 199,032,053 RGD:8554872
G Prr14 proline rich 14 JBrowse link 1 198,910,994 198,915,473 RGD:8554872
G Prss36 serine protease 36 JBrowse link 1 199,379,374 199,396,339 RGD:8554872
G Prss53 serine protease 53 JBrowse link 1 199,331,108 199,337,129 RGD:8554872
G Prss8 serine protease 8 JBrowse link 1 199,372,519 199,377,035 RGD:8554872
G Pycard PYD and CARD domain containing JBrowse link 1 199,438,029 199,439,062 RGD:8554872
G RGD1310127 similar to cDNA sequence BC017158 JBrowse link 1 199,687,775 199,716,205 RGD:8554872
G Rnf40 ring finger protein 40 JBrowse link 1 199,037,472 199,052,823 RGD:8554872
G Setd1a SET domain containing 1A, histone lysine methyltransferase JBrowse link 1 199,222,584 199,247,993 RGD:8554872
G Slc5a2 solute carrier family 5 member 2 JBrowse link 1 199,682,688 199,688,809 RGD:8554872
G Srcap Snf2-related CREBBP activator protein JBrowse link 1 198,957,764 199,007,576 RGD:8554872
G Stx1b syntaxin 1B JBrowse link 1 199,251,842 199,270,465 RGD:8554872
G Stx4 syntaxin 4 JBrowse link 1 199,287,384 199,295,606 RGD:8554872
G Tgfb1i1 transforming growth factor beta 1 induced transcript 1 JBrowse link 1 199,664,039 199,670,970 RGD:8554872
G Trim72 tripartite motif containing 72 JBrowse link 1 199,450,042 199,457,902 RGD:8554872
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 JBrowse link 1 199,338,785 199,341,306 RGD:8554872
G Zfp629 zinc finger protein 629 JBrowse link 1 199,052,430 199,065,639 RGD:8554872
G Zfp646 zinc finger protein 646 JBrowse link 1 199,321,354 199,331,256 RGD:8554872
G Zfp668 zinc finger protein 668 JBrowse link 1 199,310,935 199,321,231 RGD:8554872
G Zfp688 zinc finger protein 688 JBrowse link 1 198,865,950 198,869,068 RGD:8554872
G Zfp689 zinc finger protein 689 JBrowse link 1 198,894,000 198,900,364 RGD:8554872
G Zfp764 zinc finger protein 764 JBrowse link 1 198,834,995 198,839,251 RGD:8554872
Brunner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maoa monoamine oxidase A JBrowse link X 6,554,698 6,620,722 RGD:7240710
RGD:8554872
bulimia nervosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8554872
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:13451125
cerebellar ataxia, mental retardation and dysequlibrium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp8a2 ATPase phospholipid transporting 8A2 JBrowse link 15 39,955,689 40,488,737 RGD:11554173
G Car8 carbonic anhydrase 8 JBrowse link 5 21,249,018 21,345,810 RGD:13592920
G Vldlr very low density lipoprotein receptor JBrowse link 1 245,236,819 245,273,688 RGD:8554872
RGD:11554173
G Wdr81 WD repeat domain 81 JBrowse link 10 62,273,817 62,287,213 RGD:13592920
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vldlr very low density lipoprotein receptor JBrowse link 1 245,236,819 245,273,688 RGD:8554872
RGD:7240710
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr81 WD repeat domain 81 JBrowse link 10 62,273,817 62,287,213 RGD:7240710
RGD:8554872
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Car8 carbonic anhydrase 8 JBrowse link 5 21,249,018 21,345,810 RGD:7240710
RGD:8554872
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp8a2 ATPase phospholipid transporting 8A2 JBrowse link 15 39,955,689 40,488,737 RGD:7240710
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
cerebral cavernous malformation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:7240710
RGD:8554872
G Nacad NAC alpha domain containing JBrowse link 14 86,860,607 86,868,605 RGD:8554872
cerebral cavernous malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:7240710
RGD:8554872
Cerebral Visual Impairment and Intellectual Disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp6 acid phosphatase 6, lysophosphatidic JBrowse link 2 199,284,177 199,305,793 RGD:8554872
G Ahdc1 AT hook, DNA binding motif, containing 1 JBrowse link 5 151,209,894 151,277,192 RGD:8554872
G Amot angiomotin JBrowse link X 116,751,231 116,810,238 RGD:8554872
G Arhgef10l Rho guanine nucleotide exchange factor 10 like JBrowse link 5 159,018,373 159,089,383 RGD:8554872
G Atp6v1a ATPase H+ transporting V1 subunit A JBrowse link 11 61,531,386 61,584,634 RGD:8554872
G Dcaf6 DDB1 and CUL4 associated factor 6 JBrowse link 13 83,578,730 83,680,330 RGD:8554872
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:8554872
G Gabrb2 gamma-aminobutyric acid type A receptor beta 2 subunit JBrowse link 10 27,973,694 28,193,072 RGD:8554872
G Kctd19 potassium channel tetramerization domain containing 19 JBrowse link 19 37,338,399 37,370,438 RGD:8554872
G Pgap1 post-GPI attachment to proteins 1 JBrowse link 9 61,066,170 61,134,963 RGD:8554872
G Rere arginine-glutamic acid dipeptide repeats JBrowse link 5 167,330,966 167,664,506 RGD:8554872
G Slc1a1 solute carrier family 1 member 1 JBrowse link 1 246,955,017 247,035,159 RGD:8554872
G Slc25a16 solute carrier family 25 member 16 JBrowse link 20 27,283,383 27,308,069 RGD:8554872
G Sox5 SRY box 5 JBrowse link 4 178,062,267 179,031,991 RGD:8554872
G Spata6l spermatogenesis associated 6-like JBrowse link 1 247,037,004 247,088,124 RGD:8554872
G Ufsp2 UFM1-specific peptidase 2 JBrowse link 16 49,465,958 49,484,975 RGD:8554872
G Uhmk1 U2AF homology motif kinase 1 JBrowse link 13 88,521,625 88,536,728 RGD:8554872
G Zfp30 ZFP30 zinc finger protein JBrowse link 1 87,558,762 87,569,381 RGD:8554872
Cerebrocostomandibular Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 JBrowse link 3 122,696,125 122,703,734 RGD:8554872
RGD:7240710
Cerebrofaciothoracic Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmco1 transmembrane and coiled-coil domains 1 JBrowse link 13 85,465,015 85,559,113 RGD:7240710
RGD:8554872
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601070
RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:7240710
RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:7240710
RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a6 solute carrier family 9 member A6 JBrowse link X 158,979,081 159,045,019 RGD:7240710
RGD:8554872
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 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 Rnf219 ring finger protein 219 JBrowse link 15 88,632,089 88,670,325 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 beta subunit 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 15q11.2 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auts2 activator of transcription and developmental regulator AUTS2 JBrowse link 12 27,155,362 28,252,752 RGD:8554872
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 1 123,897,341 124,039,263 RGD:8554872
RGD:11554173
G Fan1 FANCD2 and FANCI associated nuclease 1 JBrowse link 1 125,182,117 125,209,772 RGD:8554872
G Klf13 Kruppel-like factor 13 JBrowse link 1 124,772,596 124,803,363 RGD:8554872
RGD:11554173
G Mir211 microRNA 211 JBrowse link 1 125,042,119 125,042,224 RGD:8554872
G Mtmr10 myotubularin related protein 10 JBrowse link 1 125,124,743 125,175,857 RGD:8554872
G Otud7a OTU deubiquitinase 7A JBrowse link 1 124,311,873 124,655,437 RGD:8554872
RGD:13592920
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:8554872
chromosome 15q24 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Commd4 COMM domain containing 4 JBrowse link 8 61,833,340 61,836,872 RGD:8554872
G Cspg4 chondroitin sulfate proteoglycan 4 JBrowse link 8 61,532,465 61,567,510 RGD:8554872
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 JBrowse link 8 61,607,021 61,607,909 RGD:8554872
G Man2c1 mannosidase, alpha, class 2C, member 1 JBrowse link 8 61,805,697 61,816,800 RGD:8554872
G Neil1 nei-like DNA glycosylase 1 JBrowse link 8 61,817,258 61,824,023 RGD:8554872
G Odf3l1 outer dense fiber of sperm tails 3-like 1 JBrowse link 8 61,516,249 61,542,946 RGD:8554872
G Ptpn9 protein tyrosine phosphatase, non-receptor type 9 JBrowse link 8 61,658,851 61,739,458 RGD:8554872
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:8554872
RGD:7240710
G Snupn snurportin 1 JBrowse link 8 61,614,798 61,654,809 RGD:8554872
G Snx33 sorting nexin 33 JBrowse link 8 61,584,656 61,596,055 RGD:8554872
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872
chromosome 2q32-q33 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:7240710
RGD:8554872
Chromosome Xp11.3 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rp2 RP2 activator of ARL3 GTPase JBrowse link X 2,066,298 2,116,661 RGD:7240710
CK Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:7240710
RGD:8554872
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:7240710
RGD:8554872
RGD:12904735
RGD:12904728
RGD:11568595
G Mnt MAX network transcriptional repressor JBrowse link 10 61,683,776 61,700,504 RGD:11554173
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:7240710
RGD:8554872
RGD:11554173
Cochlear Deafness with Myopia and Intellectual Impairment term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slitrk6 SLIT and NTRK-like family, member 6 JBrowse link 15 95,507,632 95,514,259 RGD:8554872
Coffin-Lowry syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:7240710
RGD:8554872
RGD:11554173
Coffin-Siris syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:8554872
RGD:13592920
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
RGD:11526783
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:8554872
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:8554872
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 10 87,116,827 87,138,890 RGD:8554872
Coffin-Siris syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
RGD:7240710
G Dpf2 double PHD fingers 2 JBrowse link 1 221,253,764 221,269,043 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
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
Coffin-Siris syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:7240710
RGD:8554872
Coffin-Siris Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 10 87,116,827 87,138,890 RGD:8554872
RGD:7240710
Coffin-Siris syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid2 AT-rich interaction domain 2 JBrowse link 7 137,680,564 137,798,329 RGD:8554872
RGD:7240710
Coffin-Siris Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpf2 double PHD fingers 2 JBrowse link 1 221,253,764 221,269,043 RGD:8554872
RGD:7240710
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
Cohen-Gibson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eed embryonic ectoderm development JBrowse link 1 154,189,252 154,216,340 RGD:8554872
RGD:7240710
conduct disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp1 acid phosphatase 1 JBrowse link 6 49,836,064 49,851,714 RGD:1358577
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:6907129
G Drd4 dopamine receptor D4 JBrowse link 1 214,278,296 214,282,818 RGD:13210585
G Htr1b 5-hydroxytryptamine receptor 1B JBrowse link 8 89,113,984 89,130,830 RGD:1358661
G Slc6a4 solute carrier family 6 member 4 JBrowse link 10 63,153,656 63,188,377 RGD:8554872
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 muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inpp5k inositol polyphosphate-5-phosphatase K JBrowse link 10 63,775,639 63,796,879 RGD:8554872
RGD:7240710
Cornelia de Lange syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brd4 bromodomain containing 4 JBrowse link 7 14,222,101 14,303,055 RGD:11554173
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 Kmt2a lysine methyltransferase 2A JBrowse link 8 49,110,407 49,185,872 RGD:8554872
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:7240710
RGD:8554872
RGD:11554173
G Pds5a PDS5 cohesin associated factor A JBrowse link 14 44,185,445 44,282,308 RGD:13592920
G Rad21 RAD21 cohesin complex component JBrowse link 7 91,511,755 91,538,673 RGD:11554173
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
RGD:11554173
G Smc3 structural maintenance of chromosomes 3 JBrowse link 1 274,310,120 274,352,856 RGD:7240710
RGD:8554872
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 12 19,320,269 19,328,706 RGD:8554872
Cornelia De Lange Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqsec2 IQ motif and Sec7 domain 2 JBrowse link X 22,212,137 22,293,810 RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
RGD:7240710
Cornelia De Lange Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad21 RAD21 cohesin complex component JBrowse link 7 91,511,755 91,538,673 RGD:7240710
RGD:8554872
Cornelia De Lange Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmrtc1a DMRT-like family C1a JBrowse link X 72,624,660 72,654,258 RGD:8554872
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:8554872
RGD:13208817
RGD:11068490
RGD:7240710
G Nap1l2 nucleosome assembly protein 1-like 2 JBrowse link X 73,997,274 73,999,677 RGD:8554872
G Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A JBrowse link X 73,894,603 73,895,742 RGD:8554872
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,377,020 72,515,385 RGD:8554872
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igbp1 immunoglobulin binding protein 1 JBrowse link X 70,322,764 70,345,005 RGD:7240710
RGD:8554872
cortical dysplasia-focal epilepsy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:7240710
RGD:8554872
G Tpk1 thiamin pyrophosphokinase 1 JBrowse link 4 72,792,252 73,174,179 RGD:8554872
creatine transporter deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:7240710
RGD:8554872
RGD:11554173
Cri-du-Chat syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
RGD:7240710
Danon disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap14 A-kinase anchoring protein 14 JBrowse link X 123,773,430 123,788,898 RGD:8554872
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 JBrowse link X 124,631,544 124,652,520 RGD:8554872
G Lamp2 lysosomal-associated membrane protein 2 JBrowse link X 124,722,628 124,766,079 RGD:7240710
RGD:8554872
RGD:13703117
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 RGD:13703117
G LOC100364002 reproductive homeobox 9-like JBrowse link X 123,999,683 124,002,081 RGD:8554872
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 123,803,109 123,806,760 RGD:8554872
G Nkap NFKB activating protein JBrowse link X 123,751,196 123,770,595 RGD:8554872
G Rhox10 reproductive homeobox 10 JBrowse link X 124,207,017 124,211,455 RGD:8554872
G Rnf113a1 ring finger protein 113A1 JBrowse link X 123,806,922 123,808,049 RGD:8554872
G Tmem255a transmembrane protein 255A JBrowse link X 124,400,686 124,465,156 RGD:8554872
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay JBrowse link X 123,713,327 123,731,431 RGD:8554872
G Zbtb33 zinc finger and BTB domain containing 33 JBrowse link X 124,319,299 124,326,506 RGD:8554872
De Sanctis-Cacchione Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7240710
RGD:8554872
RGD:11554173
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm8a1 translocase of inner mitochondrial membrane 8A1 JBrowse link X 105,351,714 105,355,722 RGD:13209130
RGD:11554173
RGD:8554872
RGD:7240710
RGD:13209136
RGD:13209134
developmental coordination disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap5 A-kinase anchoring protein 5 JBrowse link 6 99,356,509 99,361,909 RGD:11554173
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Cln6 CLN6, transmembrane ER protein JBrowse link 8 67,733,215 67,748,170 RGD:11554173
G Disc1 DISC1 scaffold protein JBrowse link 19 57,818,838 58,069,992 RGD:11554173
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
G Ogg1 8-oxoguanine DNA glycosylase JBrowse link 4 145,282,828 145,289,367 RGD:11554173
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:12790586
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
G Shank1 SH3 and multiple ankyrin repeat domains 1 JBrowse link 1 100,297,137 100,344,377 RGD:11554173
developmental delay and seizures with or without movement abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhdds dehydrodolichyl diphosphate synthase subunit JBrowse link 5 152,200,681 152,227,669 RGD:8554872
RGD:7240710
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
dicarboxylic aminoaciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc1a1 solute carrier family 1 member 1 JBrowse link 1 246,955,017 247,035,159 RGD:7240710
RGD:8554872
G Spata6l spermatogenesis associated 6-like JBrowse link 1 247,037,004 247,088,124 RGD:8554872
Digitorenocerebral Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:7240710
RGD:8554872
Down syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actr1a actin related protein 1A JBrowse link 1 266,123,864 266,142,621 RGD:13831340
G Arpc4 actin related protein 2/3 complex, subunit 4 JBrowse link 4 145,330,457 145,340,985 RGD:11570562
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:11252150
G Calca calcitonin-related polypeptide alpha JBrowse link 1 184,184,018 184,188,922 RGD:11554173
G Ctss cathepsin S JBrowse link 2 197,655,780 197,679,768 RGD:5686914
G Dbn1 drebrin 1 JBrowse link 17 9,679,511 9,693,878 RGD:10398822
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A JBrowse link 11 34,858,339 34,958,733 RGD:13592920
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:5688738
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:13207452
G Fabp3 fatty acid binding protein 3 JBrowse link 5 148,528,854 148,535,597 RGD:1578460
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase JBrowse link 11 31,780,477 31,805,728 RGD:5143983
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:7240710
RGD:8554872
G Gdi2 GDP dissociation inhibitor 2 JBrowse link 17 70,299,177 70,325,864 RGD:13208830
G Gstm2 glutathione S-transferase mu 2 JBrowse link 2 210,778,041 210,782,807 RGD:11554173
G Hnmt histamine N-methyltransferase JBrowse link 3 905,111 937,038 RGD:5509779
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:10402838
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743600
G Kcnj6 potassium voltage-gated channel subfamily J member 6 JBrowse link 11 35,011,007 35,262,362 RGD:6483052
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204810
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:12910959
RGD:12914150
RGD:12910960
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
RGD:11565177
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:8554872
G Myl7 myosin light chain 7 JBrowse link 14 86,144,770 86,147,075 RGD:1580934
G Napb NSF attachment protein beta JBrowse link 3 143,017,571 143,063,904 RGD:10412652
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:11554173
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:11537399
RGD:11537404
G Prdx2 peroxiredoxin 2 JBrowse link 19 26,084,816 26,090,095 RGD:11554173
G Prdx6 peroxiredoxin 6 JBrowse link 13 79,077,567 79,088,113 RGD:11554173
G Rcan1 regulator of calcineurin 1 JBrowse link 11 32,539,689 32,620,274 RGD:11554173
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:13207521
G Rplp0 ribosomal protein lateral stalk subunit P0 JBrowse link 12 46,791,528 46,794,797 RGD:11039463
G Runx1 runt-related transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:8554872
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:11554173
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:11554173
G Snap25 synaptosome associated protein 25 JBrowse link 3 129,697,408 129,788,417 RGD:1579958
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655616
RGD:11554173
G Srsf4 serine and arginine rich splicing factor 4 JBrowse link 5 150,032,999 150,060,769 RGD:11039402
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204810
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:12859084
G Vip vasoactive intestinal peptide JBrowse link 1 42,169,307 42,177,582 RGD:5685613
RGD:11554173
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
Dyggve-Melchior-Clausen disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dym dymeclin JBrowse link 18 70,996,074 71,313,033 RGD:7240710
RGD:8554872
Dysarthria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy5 adenylate cyclase 5 JBrowse link 11 68,695,839 68,842,452 RGD:8554872
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:8554872
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:1580361
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:11554173
G Pde8b phosphodiesterase 8B JBrowse link 2 24,718,548 24,955,533 RGD:11554173
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 14 60,657,730 60,687,950 RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Zgrf1 zinc finger, GRF-type containing 1 JBrowse link 2 231,881,893 231,944,760 RGD:8554872
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
dyslexia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcdc2 doublecortin domain containing 2 JBrowse link 17 41,838,201 42,031,265 RGD:12910971
RGD:12910976
RGD:12910975
RGD:12910973
RGD:11532935
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:7240710
RGD:8554872
G Drd4 dopamine receptor D4 JBrowse link 1 214,278,296 214,282,818 RGD:13209014
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11535997
G Ncan neurocan JBrowse link 16 21,050,243 21,076,707 RGD:8554872
G RGD1307443 similar to mKIAA0319 protein JBrowse link 17 42,163,245 42,226,725 RGD:7240710
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bend2 BEN domain containing 2 JBrowse link X 35,151,376 35,200,501 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
RGD:7240710
RGD:12791015
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
G Rai2 retinoic acid induced 2 JBrowse link X 34,731,891 34,794,589 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Scml1 Scm polycomb group protein like 1 JBrowse link X 34,676,728 34,694,251 RGD:8554872
G Scml2 Scm polycomb group protein like 2 JBrowse link X 35,305,235 35,431,271 RGD:8554872
early infantile epileptic encephalopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:7240710
RGD:8554872
G Srpx2 sushi-repeat-containing protein, X-linked 2 JBrowse link X 104,734,035 104,760,658 RGD:8554872
G Tnmd tenomodulin JBrowse link X 104,684,676 104,700,173 RGD:8554872
G Tspan6 tetraspanin 6 JBrowse link X 104,719,930 104,729,606 RGD:8554872
Early Onset Parkinsonism with Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clic2 chloride intracellular channel 2 JBrowse link 20 295,338 310,363 RGD:8554872
EAST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 13 90,651,682 90,676,629 RGD:8554872
G Igsf8 immunoglobulin superfamily, member 8 JBrowse link 13 90,692,590 90,703,262 RGD:8554872
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:7240710
RGD:8554872
RGD:8662866
G Kcnj9 potassium voltage-gated channel subfamily J member 9 JBrowse link 13 90,703,046 90,710,148 RGD:8554872
eating disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:9681452
G Uts2 urotensin 2 JBrowse link 5 168,078,748 168,084,133 RGD:11554173
Encephalopathy, Neonatal Severe, due to Mecp2 Mutations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd1 ATP binding cassette subfamily D member 1 JBrowse link X 157,073,860 157,095,652 RGD:8554872
G Arhgap4 Rho GTPase activating protein 4 JBrowse link X 156,873,094 156,888,762 RGD:8554872
G Atp6ap1 ATPase H+ transporting accessory protein 1 JBrowse link X 156,407,973 156,415,053 RGD:8554872
G Avpr2 arginine vasopressin receptor 2 JBrowse link X 156,889,006 156,892,707 RGD:8554872
G Bcap31 B-cell receptor-associated protein 31 JBrowse link X 157,094,365 157,126,397 RGD:8554872
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:8554872
G Fam3a family with sequence similarity 3, member A JBrowse link X 156,319,687 156,328,974 RGD:8554872
G Fam50a family with sequence similarity 50, member A JBrowse link X 156,392,646 156,399,763 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Gdi1 GDP dissociation inhibitor 1 JBrowse link X 156,400,734 156,407,396 RGD:8554872
G Hcfc1 host cell factor C1 JBrowse link X 156,812,012 156,837,227 RGD:8554872
G Idh3g isocitrate dehydrogenase 3 (NAD), gamma JBrowse link X 156,999,803 157,008,735 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:8554872
G Irak1 interleukin-1 receptor-associated kinase 1 JBrowse link X 156,716,469 156,726,367 RGD:8554872
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:8554872
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:7240710
RGD:8554872
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:8554872
G Opn1mw opsin 1, medium wave sensitive JBrowse link X 156,569,683 156,589,907 RGD:8554872
G Pdzd4 PDZ domain containing 4 JBrowse link X 156,963,343 156,993,591 RGD:8554872
G Plxna3 plexin A3 JBrowse link X 156,363,400 156,379,433 RGD:8554872
G Plxnb3 plexin B3 JBrowse link X 157,015,297 157,030,147 RGD:8554872
G Renbp renin binding protein JBrowse link X 156,854,490 156,863,548 RGD:8554872
G Rpl10 ribosomal protein L10 JBrowse link X 156,438,251 156,440,461 RGD:8554872
G Slc10a3 solute carrier family 10, member 3 JBrowse link X 156,335,385 156,340,256 RGD:8554872
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:8554872
G Srpk3 SRSF protein kinase 3 JBrowse link X 157,008,773 157,014,342 RGD:8554872
G Ssr4 signal sequence receptor subunit 4 JBrowse link X 156,995,763 156,999,702 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
G Tex28 testis expressed 28 JBrowse link X 156,540,442 156,569,272 RGD:8554872
G Tktl1 transketolase-like 1 JBrowse link X 156,507,797 156,540,733 RGD:8554872
G Ubl4a ubiquitin-like 4A JBrowse link X 156,340,919 156,343,771 RGD:8554872
Epilepsy, Hearing Loss, and Mental Retardation Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spata5 spermatogenesis associated 5 JBrowse link 2 124,149,872 124,341,138 RGD:7240710
RGD:8554872
Familial Persistent Stuttering 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 JBrowse link 3 119,484,714 119,548,491 RGD:8554872
RGD:7240710
Familial Persistent Stuttering 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase JBrowse link 10 10,573,191 10,581,516 RGD:8554872
Feingold syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mycn MYCN proto-oncogene, bHLH transcription factor JBrowse link 6 38,222,554 38,228,419 RGD:8554872
RGD:11554173
Feingold Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mycn MYCN proto-oncogene, bHLH transcription factor JBrowse link 6 38,222,554 38,228,419 RGD:8554872
RGD:7240710
fetal alcohol spectrum disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:12904641
G Bpifa1 BPI fold containing family A, member 1 JBrowse link 3 149,624,867 149,630,610 RGD:11554173
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:11554173
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:13210751
RGD:13432044
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12904886
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:12904886
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:11554173
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12801493
FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6ap2 ATPase H+ transporting accessory protein 2 JBrowse link X 11,137,889 11,164,854 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:7240710
RGD:8554872
RGD:11576290
G Ddx3x DEAD-box helicase 3, X-linked JBrowse link X 10,400,363 10,414,010 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:11554173
G Gpr34 G protein-coupled receptor 34 JBrowse link X 10,022,986 10,043,504 RGD:8554872
G Gpr82 G protein-coupled receptor 82 JBrowse link X 9,992,832 10,001,036 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910952
RGD:12910948
RGD:11554173
G Med14 mediator complex subunit 14 JBrowse link X 10,964,035 11,082,403 RGD:8554872
G Mpc1l mitochondrial pyruvate carrier 1-like JBrowse link X 11,098,849 11,105,312 RGD:8554872
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:8554872
G RGD1565685 similar to RIKEN cDNA 1810030O07 JBrowse link X 11,082,668 11,105,588 RGD:8554872
G Usp9x ubiquitin specific peptidase 9, X-linked JBrowse link X 10,510,033 10,660,555 RGD:8554872
Filippi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ckap2l cytoskeleton associated protein 2-like JBrowse link 3 121,796,221 121,822,352 RGD:8554872
RGD:7240710
Fitzsimmons-Guilbert Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 transducin (beta)-like 1 X-linked receptor 1 JBrowse link 2 107,221,913 107,359,229 RGD:8554872
Focal Epilepsy, with Speech Disorder and with or without Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:7240710
RGD:8554872
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:8554872
G Itsn2 intersectin 2 JBrowse link 6 30,098,378 30,208,694 RGD:8554872
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
fragile X syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgb androglobin JBrowse link 1 4,445,039 4,588,507 RGD:8554872
G Aff2 AF4/FMR2 family, member 2 JBrowse link X 153,539,951 154,051,022 RGD:7240710
RGD:8554872
G App amyloid beta precursor protein JBrowse link 11 24,425,013 24,641,872 RGD:11554173
G Cyfip1 cytoplasmic FMR1 interacting protein 1 JBrowse link 1 114,258,773 114,347,138 RGD:11558008
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:10401097
G Fmr1 fragile X mental retardation 1 JBrowse link X 154,684,924 154,722,369 RGD:1601178
RGD:8554872
RGD:11554173
RGD:11566052
RGD:11566028
RGD:7240710
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:8554872
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204755
RGD:11572344
G Nrxn3 neurexin 3 JBrowse link 6 112,133,204 114,069,589 RGD:11554325
G Rab32 RAB32, member RAS oncogene family JBrowse link 1 4,638,663 4,653,220 RGD:8554872
G Serpina1 serpin family A member 1 JBrowse link 6 127,610,241 127,632,265 RGD:8554872
fragile X-associated tremor/ataxia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fmr1 fragile X mental retardation 1 JBrowse link X 154,684,924 154,722,369 RGD:7240710
RGD:12050151
RGD:11554173
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655858
Frontonasal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx1 ALX homeobox 1 JBrowse link 7 44,751,865 44,771,458 RGD:7240710
RGD:8554872
Genitopatellar Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:7240710
RGD:8554872
RGD:9588485
Gilles de la Tourette syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Baiap2 BAI1-associated protein 2 JBrowse link 10 109,107,326 109,187,458 RGD:11576298
G Drd2 dopamine receptor D2 JBrowse link 8 53,678,777 53,743,643 RGD:2311576
RGD:6907444
G Drd3 dopamine receptor D3 JBrowse link 11 61,819,102 61,883,223 RGD:11554173
G Drd4 dopamine receptor D4 JBrowse link 1 214,278,296 214,282,818 RGD:13209010
RGD:13210516
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 JBrowse link 8 63,599,907 63,637,327 RGD:9693691
G Hdc histidine decarboxylase JBrowse link 3 119,057,524 119,075,599 RGD:7240710
RGD:8554872
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:13592920
G Slc6a3 solute carrier family 6 member 3 JBrowse link 1 32,323,011 32,363,983 RGD:13592920
G Slitrk1 SLIT and NTRK-like family, member 1 JBrowse link 15 93,303,382 93,307,420 RGD:7240710
RGD:8554872
G Tdo2 tryptophan 2,3-dioxygenase JBrowse link 2 180,897,059 180,914,919 RGD:1358595
Gillespie Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:8554872
RGD:7240710
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 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
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C JBrowse link 13 79,886,832 79,889,305 RGD:8554872
RGD:7240710
G RGD1309106 similar to hypothetical protein JBrowse link 13 79,856,479 79,901,830 RGD:8554872
Growth Deficiency and Mental Retardation with Facial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt2a lysine methyltransferase 2A JBrowse link 8 49,110,407 49,185,872 RGD:7240710
RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:7240710
RGD:8554872
RGD:12880042
RGD:11554173
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars isoleucyl-tRNA synthetase JBrowse link 17 15,356,016 15,402,680 RGD:8554872
RGD:7240710
guanidinoacetate methyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gamt guanidinoacetate N-methyltransferase JBrowse link 7 12,314,848 12,317,998 RGD:7240710
RGD:8554872
RGD:11554173
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 7 12,318,776 12,326,403 RGD:8554872
HAREL-YOON SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atad3a ATPase family, AAA domain containing 3A JBrowse link 5 173,189,590 173,209,809 RGD:8554872
RGD:7240710
Helsmoortel-Van Der Aa syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adnp activity-dependent neuroprotector homeobox JBrowse link 3 164,937,188 164,964,819 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erlin2 ER lipid raft associated 2 JBrowse link 16 69,179,005 69,195,452 RGD:7240710
RGD:8554872
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
RGD:7240710
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1b DNA cross-link repair 1B JBrowse link 2 206,285,085 206,293,599 RGD:8554872
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173
Hyperphosphatasia with Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pgap3 post-GPI attachment to proteins 3 JBrowse link 10 86,343,058 86,356,146 RGD:11554173
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O JBrowse link 5 58,461,055 58,470,699 RGD:8554872
RGD:11554173
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V JBrowse link 5 151,886,132 151,899,024 RGD:8554872
RGD:11554173
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W JBrowse link 10 72,194,774 72,198,415 RGD:11554173
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y JBrowse link 8 23,167,974 23,170,215 RGD:11554173
Hyperphosphatasia with Mental Retardation Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B JBrowse link 8 79,691,407 79,715,284 RGD:8554872
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V JBrowse link 5 151,886,132 151,899,024 RGD:7240710
RGD:8554872
Hyperphosphatasia with Mental Retardation Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef39 Rho guanine nucleotide exchange factor 39 JBrowse link 5 58,998,209 59,001,779 RGD:8554872
G Arid3c AT-rich interaction domain 3C JBrowse link 5 58,107,182 58,114,632 RGD:8554872
G Car9 carbonic anhydrase 9 JBrowse link 5 59,008,277 59,015,535 RGD:8554872
G Ccdc107 coiled-coil domain containing 107 JBrowse link 5 58,995,211 58,998,620 RGD:8554872
G Ccl19 C-C motif chemokine ligand 19 JBrowse link 5 58,181,025 58,182,969 RGD:8554872
G Ccl21 C-C motif chemokine ligand 21 JBrowse link 5 58,197,678 58,198,782 RGD:8554872
G Ccl27 C-C motif chemokine ligand 27 JBrowse link 5 58,159,066 58,166,182 RGD:8554872
G Cd72 Cd72 molecule JBrowse link 5 58,943,021 58,950,373 RGD:8554872
G Cntfr ciliary neurotrophic factor receptor JBrowse link 5 58,041,114 58,078,687 RGD:8554872
G Creb3 cAMP responsive element binding protein 3 JBrowse link 5 59,063,532 59,068,196 RGD:8554872
G Dctn3 dynactin subunit 3 JBrowse link 5 58,098,706 58,106,706 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:8554872
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 JBrowse link 5 58,393,197 58,402,162 RGD:8554872
G Enho energy homeostasis associated JBrowse link 5 58,018,039 58,019,836 RGD:8554872
G Fam166b family with sequence similarity 166, member B JBrowse link 5 58,883,064 58,884,136 RGD:8554872
G Fam205a family with sequence similarity 205, member A JBrowse link 5 58,282,202 58,303,075 RGD:8554872
G Fam214b family with sequence similarity 214, member B JBrowse link 5 58,477,894 58,484,900 RGD:8554872
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:8554872
G Galt galactose-1-phosphate uridylyltransferase JBrowse link 5 58,144,679 58,147,946 RGD:8554872
G Gba2 glucosylceramidase beta 2 JBrowse link 5 59,068,081 59,079,719 RGD:8554872
G Il11ra1 interleukin 11 receptor subunit alpha 1 JBrowse link 5 58,149,150 58,159,072 RGD:8554872
G LOC100360821 rCG55159-like JBrowse link 5 58,416,058 58,421,991 RGD:8554872
G Msmp microseminoprotein, prostate associated RGD:8554872
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:8554872
G Phf24 PHD finger protein 24 JBrowse link 5 58,359,744 58,387,446 RGD:8554872
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O JBrowse link 5 58,461,055 58,470,699 RGD:7240710
RGD:8554872
G Rgp1 RGP1 homolog,