ONTOLOGY REPORT - ANNOTATIONS


Term:Multiple Abnormalities
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Accession:DOID:9007653 term browser browse the term
Definition:Congenital abnormalities that affect more than one organ or body structure.
Synonyms:exact_synonym: MULTIPLE CONGENITAL ANOMALIES;   Multisystem Disorder
 narrow_synonym: H3F3A-RELATED CONDITION;   Multiple congenital anomalies-hypotonia-seizures syndrome
 primary_id: MESH:D000015
 alt_id: RDO:0000254
For additional species annotation, visit the Alliance of Genome Resources.


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Multiple Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:8554872
G Actg2 actin gamma 2, smooth muscle JBrowse link 4 115,215,160 115,239,746 RGD:8554872
G Adcy5 adenylate cyclase 5 JBrowse link 11 68,695,839 68,842,452 RGD:8554872
G Adnp activity-dependent neuroprotector homeobox JBrowse link 3 164,937,188 164,964,819 RGD:8554872
G Aff4 AF4/FMR2 family, member 4 JBrowse link 10 38,692,167 38,773,021 RGD:11554173
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 115,561,329 115,589,792 RGD:8554872
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 JBrowse link 9 65,961,361 66,034,396 RGD:8554872
G Anapc15 anaphase promoting complex subunit 15 JBrowse link 1 166,981,738 166,985,363 RGD:8554872
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:8554872
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Arntl aryl hydrocarbon receptor nuclear translocator-like JBrowse link 1 178,039,002 178,137,469 RGD:11554173
G Atl1 atlastin GTPase 1 JBrowse link 6 92,229,764 92,370,428 RGD:8554872
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:8554872
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:8554872
G Bag3 Bcl2-associated athanogene 3 JBrowse link 1 199,941,258 199,965,191 RGD:8554872
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:1600515
G Bicd2 BICD cargo adaptor 2 JBrowse link 17 15,673,649 15,718,035 RGD:8554872
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:8554872
G Cacna1g calcium voltage-gated channel subunit alpha1 G JBrowse link 10 82,129,071 82,197,828 RGD:8554872
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:8554872
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:8554872
G Cdc42 cell division cycle 42 JBrowse link 5 155,690,267 155,728,385 RGD:8554872
G Cdh3 cadherin 3 JBrowse link 19 38,668,957 38,719,801 RGD:1600801
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Chd2 chromodomain helicase DNA binding protein 2 JBrowse link 1 134,757,934 134,873,053 RGD:8554872
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872
G Chd8 chromodomain helicase DNA binding protein 8 JBrowse link 15 28,612,932 28,672,574 RGD:8554872
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:8554872
G Chuk component of inhibitor of nuclear factor kappa B kinase complex JBrowse link 1 263,848,829 263,884,354 RGD:11554173
G Cic capicua transcriptional repressor JBrowse link 1 82,135,440 82,163,007 RGD:8554872
G Cltc clathrin heavy chain JBrowse link 10 74,014,560 74,070,578 RGD:8554872
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:8554872
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:8554872
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:8554872
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:8554872
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:8554872
G Crlf1 cytokine receptor-like factor 1 JBrowse link 16 20,675,042 20,686,365 RGD:1600970
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:11554173
RGD:8554872
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 RGD:8554872
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
G Dlat dihydrolipoamide S-acetyltransferase JBrowse link 8 55,062,549 55,087,832 RGD:8554872
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:8554872
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:8554872
G Emilin1 elastin microfibril interfacer 1 JBrowse link 6 26,821,249 26,829,013 RGD:8554872
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:8554872
G Exosc3 exosome component 3 JBrowse link 5 60,866,498 60,871,734 RGD:8554872
G Fa2h fatty acid 2-hydroxylase JBrowse link 19 43,545,380 43,596,788 RGD:8554872
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
G Fn1 fibronectin 1 JBrowse link 9 78,900,111 78,969,018 RGD:8554872
G Foxg1 forkhead box G1 JBrowse link 6 69,971,227 69,974,037 RGD:8554872
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 JBrowse link X 14,993,685 15,006,010 RGD:8554872
G Gars glycyl-tRNA synthetase JBrowse link 4 85,235,122 85,276,085 RGD:8554872
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:8554872
G Gnao1 G protein subunit alpha o1 JBrowse link 19 11,513,201 11,669,578 RGD:8554872
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Gper1 G protein-coupled estrogen receptor 1 JBrowse link 12 17,309,122 17,315,267 RGD:11554173
G Grhl3 grainyhead-like transcription factor 3 JBrowse link 5 153,893,039 153,925,045 RGD:8554872
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 3 2,507,745 2,534,664 RGD:8554872
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:8554872
G Gsk3b glycogen synthase kinase 3 beta JBrowse link 11 65,060,884 65,208,842 RGD:11554173
G H3f3a H3 histone family member 3A JBrowse link 13 99,091,246 99,102,828 RGD:8554872
G Hcfc1 host cell factor C1 JBrowse link X 156,812,012 156,837,227 RGD:8554872
G Hdac1 histone deacetylase 1 JBrowse link 5 147,716,664 147,743,723 RGD:8554872
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:8554872
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 21,474,627 21,603,348 RGD:8554872
G Iqsec2 IQ motif and Sec7 domain 2 JBrowse link X 22,212,137 22,293,810 RGD:8554872
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
G Kcna1 potassium voltage-gated channel subfamily A member 1 JBrowse link 4 159,190,781 159,192,526 RGD:8554872
G Kcnc3 potassium voltage-gated channel subfamily C member 3 JBrowse link 1 100,593,453 100,607,874 RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
G Kmt2a lysine methyltransferase 2A JBrowse link 8 49,110,407 49,185,872 RGD:8554872
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:1600477
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:8554872
G Lama1 laminin subunit alpha 1 JBrowse link 9 115,916,907 116,042,123 RGD:8554872
G Las1l LAS1-like, ribosome biogenesis factor JBrowse link X 65,081,591 65,102,344 RGD:8554872
G Lca5 lebercilin LCA5 JBrowse link 8 90,926,309 90,984,271 RGD:8554872
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:8554872
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing JBrowse link 1 166,985,468 166,989,681 RGD:8554872
G Magel2 MAGE family member L2 JBrowse link 1 123,015,404 123,019,945 RGD:8554872
G Mapk1 mitogen activated protein kinase 1 JBrowse link 11 88,203,863 88,273,301 RGD:8554872
G Mn1 MN1 proto-oncogene, transcriptional regulator JBrowse link 12 51,214,192 51,250,230 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Myh10 myosin heavy chain 10 JBrowse link 10 55,274,910 55,406,738 RGD:8554872
G Myh2 myosin heavy chain 2 JBrowse link 10 53,711,895 53,738,164 RGD:8554872
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:8554872
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 123,803,109 123,806,760 RGD:8554872
G Neb nebulin JBrowse link 3 37,658,081 37,855,843 RGD:8554872
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:8554872
G Nf1x nuclear factor 1 X JBrowse link 19 25,818,640 25,914,777 RGD:8554872
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:11352488
G Nrxn1 neurexin 1 JBrowse link 6 13,886,757 15,191,660 RGD:11554173
RGD:8554872
G Ntf4 neurotrophin 4 JBrowse link 1 101,405,314 101,408,145 RGD:8554872
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase JBrowse link X 71,540,870 71,585,906 RGD:8554872
G Pacs1 phosphofurin acidic cluster sorting protein 1 JBrowse link 1 220,515,117 220,645,611 RGD:8554872
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:8554872
G Pcbp1 poly(rC) binding protein 1 JBrowse link 4 118,327,185 118,329,223 RGD:8554872
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:8554872
G Pdha1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 37,329,779 37,343,410 RGD:8554872
G Phka2 phosphorylase kinase regulatory subunit alpha 2 JBrowse link X 35,970,650 36,926,616 RGD:8554872
G Piga phosphatidylinositol glycan anchor biosynthesis, class A JBrowse link X 31,786,823 31,799,751 RGD:8554872
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V JBrowse link 5 151,886,132 151,899,024 RGD:8554872
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 16 20,415,109 20,424,982 RGD:8554872
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:8554872
G Pld1 phospholipase D1 JBrowse link 2 113,651,967 113,849,403 RGD:8554872
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 100,538,066 100,554,105 RGD:11554173
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:8554872
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
RGD:8554872
G Pura purine rich element binding protein A JBrowse link 18 29,104,712 29,114,918 RGD:8554872
G Rad51d RAD51 paralog D JBrowse link 10 70,222,703 70,241,352 RGD:8554872
G Rad54l RAD54 like JBrowse link 5 134,948,511 134,978,125 RGD:8554872
G Rif1 replication timing regulatory factor 1 JBrowse link 3 37,599,540 37,648,818 RGD:8554872
G Sall1 spalt-like transcription factor 1 JBrowse link 19 23,387,737 23,405,025 RGD:1599553
RGD:1599551
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:8554872
G Sbds SBDS, ribosome maturation factor JBrowse link 12 29,921,443 29,930,602 RGD:1599541
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Scn3a sodium voltage-gated channel alpha subunit 3 JBrowse link 3 51,530,897 51,643,140 RGD:8554872
G Setbp1 SET binding protein 1 JBrowse link 18 75,090,733 75,432,446 RGD:11554173
G Setd5 SET domain containing 5 JBrowse link 4 145,017,549 145,095,247 RGD:8554872
G Sf3b4 splicing factor 3b, subunit 4 JBrowse link 2 198,312,428 198,317,180 RGD:8554872
G Shank3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 7 130,474,278 130,534,679 RGD:8554872
G Slit2 slit guidance ligand 2 JBrowse link 14 66,831,848 67,171,491 RGD:8554872
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 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 Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
G Smc3 structural maintenance of chromosomes 3 JBrowse link 1 274,310,120 274,352,856 RGD:8554872
G Snap25 synaptosome associated protein 25 JBrowse link 3 129,697,408 129,788,417 RGD:8554872
G Spast spastin JBrowse link 6 22,230,067 22,282,166 RGD:8554872
G Sptbn1 spectrin, beta, non-erythrocytic 1 JBrowse link 14 114,517,839 114,700,199 RGD:1581319
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:8554872
G Stat2 signal transducer and activator of transcription 2 JBrowse link 7 2,691,064 2,707,530 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Sv2a synaptic vesicle glycoprotein 2a JBrowse link 2 198,321,100 198,336,889 RGD:8554872
G Syp synaptophysin JBrowse link X 15,694,699 15,709,244 RGD:8554872
G Tbx3 T-box 3 JBrowse link 12 42,479,518 42,494,588 RGD:1601419
G Tbx6 T-box 6 JBrowse link 1 198,214,797 198,218,706 RGD:8554872
G Timm50 translocase of inner mitochondrial membrane 50 JBrowse link 1 85,470,810 85,480,813 RGD:8554872
G Tmem231 transmembrane protein 231 JBrowse link 19 44,137,444 44,158,624 RGD:8554872
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:8554872
G Tshr thyroid stimulating hormone receptor JBrowse link 6 115,170,290 115,306,871 RGD:8554872
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:8554872
G Ube3a ubiquitin protein ligase E3A JBrowse link 1 116,586,901 116,678,161 RGD:8554872
G Ube3b ubiquitin protein ligase E3B JBrowse link 12 47,946,691 47,991,973 RGD:8554872
G Vma21 vacuolar ATPase assembly factor VMA21 JBrowse link 16 70,142,561 70,151,833 RGD:8554872
G Vps35 VPS35 retromer complex component JBrowse link 19 27,464,937 27,500,636 RGD:8554872
G Vrk1 VRK serine/threonine kinase 1 JBrowse link 6 129,835,788 129,902,839 RGD:8554872
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:8554872
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:8554872
G Zbtb20 zinc finger and BTB domain containing 20 JBrowse link 11 62,014,925 62,561,113 RGD:8554872
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:8554872
G Zmynd11 zinc finger, MYND-type containing 11 JBrowse link 17 63,825,616 63,914,740 RGD:8554872
16Q24.3 Microdeletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acsf3 acyl-CoA synthetase family member 3 JBrowse link 19 55,594,801 55,635,312 RGD:8554872
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:8554872
G Aprt adenine phosphoribosyl transferase JBrowse link 19 55,387,288 55,389,256 RGD:8554872
G Banp Btg3 associated nuclear protein JBrowse link 19 54,766,441 54,843,795 RGD:8554872
G Ca5a carbonic anhydrase 5A JBrowse link 19 54,731,829 54,761,697 RGD:8554872
G Cbfa2t3 CBFA2/RUNX1 translocation partner 3 JBrowse link 19 55,438,409 55,510,652 RGD:8554872
G Cdh15 cadherin 15 JBrowse link 19 55,669,661 55,689,986 RGD:8554872
G Cdt1 chromatin licensing and DNA replication factor 1 JBrowse link 19 55,381,565 55,386,511 RGD:8554872
G Cpne7 copine 7 JBrowse link 19 55,929,555 55,946,251 RGD:8554872
G Ctu2 cytosolic thiouridylase subunit 2 JBrowse link 19 55,300,531 55,305,543 RGD:8554872
G Cyba cytochrome b-245 alpha chain JBrowse link 19 55,249,634 55,257,824 RGD:8554872
G Fbxo31 F-box protein 31 JBrowse link 19 53,487,610 53,625,673 RGD:8554872
G Galns galactosamine (N-acetyl)-6-sulfatase JBrowse link 19 55,391,004 55,423,328 RGD:8554872
G Il17c interleukin 17C JBrowse link 19 55,246,926 55,248,688 RGD:8554872
G Jph3 junctophilin 3 JBrowse link 19 54,553,419 54,613,477 RGD:8554872
G Klhdc4 kelch domain containing 4 JBrowse link 19 54,651,911 54,652,381 RGD:8554872
G LOC687560 hypothetical protein LOC687560 JBrowse link 19 53,467,806 53,481,093 RGD:8554872
G Map1lc3b microtubule-associated protein 1 light chain 3 beta JBrowse link 19 53,635,449 53,643,970 RGD:8554872
G Mvd mevalonate diphosphate decarboxylase JBrowse link 19 55,258,910 55,268,933 RGD:8554872
G Pabpn1l poly(A)binding protein nuclear 1-like JBrowse link 19 55,430,808 55,434,252 RGD:8554872
G Piezo1 piezo-type mechanosensitive ion channel component 1 JBrowse link 19 55,305,494 55,367,680 RGD:8554872
G Rnf166 ring finger protein 166 JBrowse link 19 55,290,563 55,300,403 RGD:8554872
G Rpl13 ribosomal protein L13 JBrowse link 19 55,917,489 55,920,040 RGD:8554872
G Slc7a5 solute carrier family 7 member 5 JBrowse link 19 54,693,959 54,722,563 RGD:8554872
G Snai3 snail family transcriptional repressor 3 JBrowse link 19 55,276,211 55,290,031 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Trappc2l trafficking protein particle complex 2-like JBrowse link 19 55,423,350 55,428,551 RGD:8554872
G Zc3h18 zinc finger CCCH-type containing 18 JBrowse link 19 55,197,348 55,241,800 RGD:8554872
G Zcchc14 zinc finger CCHC-type containing 14 JBrowse link 19 53,644,500 53,688,624 RGD:8554872
G Zfp26 zinc finger protein 26 JBrowse link 8 21,444,833 21,466,474 RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:8554872
G Zfpm1 zinc finger protein, multitype 1 JBrowse link 19 55,094,585 55,150,994 RGD:8554872
22q11 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:11561941
3MC syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8554872
G Ahsg alpha-2-HS-glycoprotein JBrowse link 11 81,711,269 81,717,594 RGD:8554872
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Crygs crystallin, gamma S JBrowse link 11 81,796,891 81,802,172 RGD:8554872
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 JBrowse link 11 81,741,342 81,757,806 RGD:8554872
G Eif4a2 eukaryotic translation initiation factor 4A2 JBrowse link 11 81,373,047 81,379,680 RGD:8554872
G Fetub fetuin B JBrowse link 11 81,648,890 81,660,472 RGD:8554872
G Hrg histidine-rich glycoprotein JBrowse link 11 81,621,274 81,639,938 RGD:8554872
G Kng2 kininogen 2 JBrowse link 11 81,509,185 81,516,759 RGD:8554872
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:7240710
RGD:8554872
RGD:11554173
G Rfc4 replication factor C subunit 4 JBrowse link 11 81,358,592 81,373,044 RGD:8554872
G Rpl39l ribosomal protein L39-like JBrowse link 10 5,529,580 5,533,695 RGD:8554872
G Rtp1 receptor (chemosensory) transporter protein 1 JBrowse link 11 80,823,989 80,826,505 RGD:8554872
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 JBrowse link 11 80,927,601 80,981,424 RGD:8554872
G Tbccd1 TBCC domain containing 1 JBrowse link 11 81,757,963 81,794,367 RGD:8554872
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:7240710
RGD:11554173
RGD:8554872
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
3MC syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec10 collectin subfamily member 10 JBrowse link 7 93,975,451 94,035,999 RGD:8554872
RGD:7240710
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
ABCD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:7240710
RGD:8554872
ablepharon macrostomia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:7240710
RGD:8554872
Adams-Oliver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap31 Rho GTPase activating protein 31 JBrowse link 11 64,600,968 64,714,114 RGD:8554872
RGD:11554173
G Dll4 delta like canonical Notch ligand 4 JBrowse link 3 111,135,011 111,146,746 RGD:8554872
RGD:11554173
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:11554173
RGD:8554872
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 4 129,477,779 129,515,435 RGD:8554872
RGD:11554173
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:11554173
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 14 59,657,738 59,865,427 RGD:11554173
Adams-Oliver Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap31 Rho GTPase activating protein 31 JBrowse link 11 64,600,968 64,714,114 RGD:7240710
RGD:8554872
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
Adams-Oliver Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 14 59,657,738 59,865,427 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 4 129,477,779 129,515,435 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dll4 delta like canonical Notch ligand 4 JBrowse link 3 111,135,011 111,146,746 RGD:8554872
RGD:7240710
Adducted Thumbs Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:11554173
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872
agnathia-otocephaly complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:13592920
G Prrx1 paired related homeobox 1 JBrowse link 13 81,147,038 81,215,559 RGD:7240710
RGD:8554872
RGD:11554173
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:13592920
Al Kaissi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk10 cyclin-dependent kinase 10 JBrowse link 19 56,024,903 56,032,610 RGD:8554872
RGD:7240710
Alagille syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:1580651
RGD:8554872
RGD:11554173
RGD:7240710
RGD:6482237
RGD:6482232
G Notch2 notch receptor 2 JBrowse link 2 200,187,184 200,320,403 RGD:1580762
RGD:8554872
RGD:7240710
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
Alstrom syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alms1 ALMS1, centrosome and basal body associated protein JBrowse link 4 117,371,544 117,472,310 RGD:1601169
RGD:8554872
RGD:11554173
RGD:8696018
RGD:8696016
RGD:8696015
RGD:8696013
RGD:7240710
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:8554872
Angelman syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp10a ATPase phospholipid transporting 10A (putative) JBrowse link 1 115,973,343 116,141,892 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
RGD:11554173
G Gabra5 gamma-aminobutyric acid type A receptor alpha 5 subunit JBrowse link 1 112,833,941 112,947,482 RGD:8554872
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:8554872
RGD:11554173
G Gabrg3 gamma-aminobutyric acid type A receptor gamma 3 subunit JBrowse link 1 112,158,525 112,812,267 RGD:8554872
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:8554872
G Magel2 MAGE family member L2 JBrowse link 1 123,015,404 123,019,945 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Mkrn3 makorin, ring finger protein, 3 JBrowse link 1 123,062,049 123,064,763 RGD:8554872
G Ndn necdin, MAGE family member JBrowse link 1 122,981,755 122,983,354 RGD:8554872
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:8554872
G Rnf4 ring finger protein 4 JBrowse link 14 81,658,400 81,679,756 RGD:9831454
G Snrpn small nuclear ribonucleoprotein polypeptide N JBrowse link 1 195,074,328 195,096,460 RGD:8554872
RGD:13592920
G Snurf SNRPN upstream reading frame JBrowse link 1 195,074,328 195,096,694 RGD:8554872
G Ube3a ubiquitin protein ligase E3A JBrowse link 1 116,586,901 116,678,161 RGD:1358469
RGD:8554872
RGD:12859274
RGD:12859273
RGD:11554173
RGD:7240710
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfkbia NFKB inhibitor alpha JBrowse link 6 76,267,227 76,270,457 RGD:7240710
RGD:8554872
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872
RGD:11568643
RGD:11554173
Aplasia Cutis Congenita with Epibulbar Dermoids term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cluap1 clusterin associated protein 1 JBrowse link 10 11,847,058 11,878,792 RGD:8554872
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:8554872
G Nlrp5 NLR family, pyrin domain containing 5 JBrowse link 1 71,452,184 71,490,915 RGD:8554872
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
asphyxiating thoracic dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:8554872
G Cep120 centrosomal protein 120 JBrowse link 18 48,658,495 48,720,570 RGD:11554173
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:11554173
RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:11554173
RGD:8554872
G Evc EvC ciliary complex subunit 1 JBrowse link 14 78,213,601 78,253,266 RGD:8554872
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 JBrowse link 13 109,624,167 109,629,609 RGD:8554872
G Fuz fuzzy planar cell polarity protein JBrowse link 1 100,891,832 100,896,811 RGD:8554872
G Ick intestinal cell kinase JBrowse link 8 85,413,998 85,473,374 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:11554173
RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:11554173
RGD:8554872
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:8554872
G Ift52 intraflagellar transport 52 JBrowse link 3 159,388,868 159,413,358 RGD:11554173
RGD:8554872
G Ift74 intraflagellar transport 74 JBrowse link 5 113,579,065 113,682,485 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:8554872
G Ift81 intraflagellar transport 81 JBrowse link 12 39,420,161 39,507,412 RGD:8554872
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:8554872
G Intu inturned planar cell polarity protein JBrowse link 2 127,589,325 127,611,705 RGD:8554872
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:8554872
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:11554173
RGD:8554872
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
RGD:11554173
RGD:11069733
RGD:11072153
G RGD1304728 similar to 4933427D14Rik protein JBrowse link 10 58,726,721 58,776,718 RGD:8554872
G Sltm SAFB-like, transcription modulator JBrowse link 8 76,977,698 77,022,847 RGD:8554872
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` JBrowse link 4 95,884,020 95,945,248 RGD:13592920
G Smc4 structural maintenance of chromosomes 4 JBrowse link 2 165,600,934 165,629,415 RGD:8554872
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:11554173
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173
RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:11554173
RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
RGD:11554173
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:11554173
RGD:8554872
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:8554872
RGD:13592920
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
RGD:7240710
G Fam98c family with sequence similarity 98, member C JBrowse link 1 88,095,240 88,098,828 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:13592920
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:8554872
G Tmem256 transmembrane protein 256 JBrowse link 10 56,446,022 56,447,138 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:8554872
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:8554872
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:7240710
RGD:8554872
RGD:12879399
RGD:11554173
RGD:10053611
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo RGD:12879399
G Bak1 BCL2-antagonist/killer 1 JBrowse link 20 5,609,620 5,618,899 RGD:14394817
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:14394817
G Bik BCL2-interacting killer JBrowse link 7 124,390,924 124,410,449 RGD:14394817
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:9681455
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8693328
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8693328
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11529801
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mre11a MRE11 homolog A, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:8554872
RGD:11554173
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:11554173
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 JBrowse link 10 55,013,686 55,078,986 RGD:7240710
RGD:8554872
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Mre11a MRE11 homolog A, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:7240710
RGD:8554872
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:8554872
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:7240710
RGD:8554872
Attenuated Adenomatous Polyposis Coli term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:8554872
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 JBrowse link 5 62,718,733 62,751,345 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 polycystic kidney disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Angpt2 angiopoietin 2 JBrowse link 16 75,966,480 76,016,147 RGD:2314213
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 JBrowse link 5 62,642,974 62,684,387 RGD:11554173
G Bicc1 BicC family RNA binding protein 1 JBrowse link 20 18,780,605 18,940,429 RGD:13592920
G Brd4 bromodomain containing 4 JBrowse link 7 14,222,101 14,303,055 RGD:11554173
G C9 complement C9 JBrowse link 2 55,775,562 55,823,807 RGD:8661641
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:7204130
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:2289666
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:8661641
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:4144854
G Fos Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 6 109,300,433 109,303,299 RGD:7242198
G Ganab glucosidase II alpha subunit JBrowse link 1 225,096,558 225,116,384 RGD:11554173
RGD:8554872
G Havcr1 hepatitis A virus cellular receptor 1 JBrowse link 10 31,813,819 31,860,934 RGD:7245969
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:6909172
G Itga8 integrin subunit alpha 8 JBrowse link 17 79,321,893 79,676,927 RGD:7257723
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:1641842
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7207194
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:7207194
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:7245504
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:7207457
RGD:11554173
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:13592920
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:5131995
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:1601399
RGD:8554872
RGD:11554173
RGD:7175280
RGD:7175279
G Pkd2 polycystin 2, transient receptor potential cation channel JBrowse link 14 6,602,004 6,645,257 RGD:7175273
RGD:8554872
RGD:11554173
RGD:7175279
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:11554173
G Rps6kb1 ribosomal protein S6 kinase B1 JBrowse link 10 73,824,200 73,865,503 RGD:1643017
G Serping1 serpin family G member 1 JBrowse link 3 72,161,230 72,171,109 RGD:8661641
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242933
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:5131995
G Stat6 signal transducer and activator of transcription 6 JBrowse link 7 70,946,228 70,963,542 RGD:7243978
autosomal recessive polycystic kidney disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:2325220
RGD:12879406
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:10040950
G Aqp1 aquaporin 1 (Colton blood group) JBrowse link 4 85,551,503 85,563,683 RGD:2307071
RGD:11554173
G Arl3 ADP ribosylation factor like GTPase 3 JBrowse link 1 266,287,015 266,333,099 RGD:13592920
G Bicc1 BicC family RNA binding protein 1 JBrowse link 20 18,780,605 18,940,429 RGD:13592920
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7175542
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:7204130
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:2307071
RGD:11554173
G Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 JBrowse link 5 134,492,734 134,507,158 RGD:2303380
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 JBrowse link 5 134,196,910 134,207,888 RGD:2303380
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 JBrowse link 5 134,468,666 134,484,851 RGD:2303380
G Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 JBrowse link 5 133,978,953 134,008,255 RGD:2303380
G Cys1 cystin 1 JBrowse link 6 43,844,937 43,862,131 RGD:7175541
RGD:13592920
G Dzip1l DAZ interacting zinc finger protein 1-like JBrowse link 8 107,875,659 107,916,298 RGD:11554173
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:11554173
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:7207865
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:11554173
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:10040950
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:7207453
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:13592920
G Nek8 NIMA-related kinase 8 JBrowse link 10 65,404,489 65,439,059 RGD:13592920
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:10040950
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
RGD:13592920
G Pkd2 polycystin 2, transient receptor potential cation channel JBrowse link 14 6,602,004 6,645,257 RGD:8554872
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:70439
RGD:8554872
RGD:11554173
RGD:1642441
G Pkhd1pck polycystic kidney and hepatic disease 1,polycystic kidney disease RGD:70439
G Sclt1 sodium channel and clathrin linker 1 JBrowse link 2 128,523,376 128,675,668 RGD:13592920
G Slc4a2 solute carrier family 4 member 2 JBrowse link 4 7,264,677 7,282,355 RGD:2307071
RGD:11554173
G Src SRC proto-oncogene, non-receptor tyrosine kinase JBrowse link 3 153,547,807 153,595,643 RGD:11554173
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:13592920
Bamforth-Lazarus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:11554173
G Foxe1 forkhead box E1 JBrowse link 5 61,954,549 61,957,357 RGD:7240710
RGD:8554872
RGD:11554173
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
Bardet-Biedl syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Arl6 ADP-ribosylation factor like GTPase 6 JBrowse link 11 42,858,476 42,884,324 RGD:1578724
RGD:8554872
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Bbip1 BBSome interacting protein 1 JBrowse link 1 274,649,085 274,663,544 RGD:8554872
G Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:1579969
RGD:8554872
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
RGD:11352646
G Bbs12 Bardet-Biedl syndrome 12 JBrowse link 2 124,048,513 124,057,026 RGD:8554872
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
RGD:70665
G Bbs4 Bardet-Biedl syndrome 4 JBrowse link 8 64,115,005 64,154,432 RGD:8554872
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:1579974
RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:1579975
RGD:8554872
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:9684996
RGD:8554872
G Ccdc28b coiled coil domain containing 28B JBrowse link 5 147,823,446 147,828,449 RGD:9685059
RGD:8554872
G Cep19 centrosomal protein 19 JBrowse link 11 71,921,713 71,938,335 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
RGD:11554173
G Gli1 GLI family zinc finger 1 JBrowse link 7 70,620,794 70,633,171 RGD:8554872
G Higd2al1 HIG1 hypoxia inducible domain family, member 2A-like 1 JBrowse link 12 4,546,240 4,546,871 RGD:8554872
G Htr2b 5-hydroxytryptamine receptor 2B JBrowse link 9 93,112,781 93,130,135 RGD:8554872
G Ift27 intraflagellar transport 27 JBrowse link 7 119,393,384 119,409,710 RGD:8554872
G Lztfl1 leucine zipper transcription factor-like 1 JBrowse link 8 132,774,393 132,790,922 RGD:8554872
G Mdh1 malate dehydrogenase 1 JBrowse link 14 106,378,349 106,393,642 RGD:8554872
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:1601414
RGD:8554872
RGD:1581208
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:11070512
RGD:8554872
RGD:11554173
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:11352646
G Psmd1 proteasome 26S subunit, non-ATPase 1 JBrowse link 9 93,080,618 93,155,033 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:8554872
G Tbc1d32 TBC1 domain family, member 32 JBrowse link 20 37,463,879 37,701,268 RGD:13592920
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:11070512
RGD:8554872
RGD:11554173
G Trappc3 trafficking protein particle complex 3 JBrowse link 5 144,281,720 144,295,306 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:1624129
RGD:8554872
G Ttc8 tetratricopeptide repeat domain 8 JBrowse link 6 122,920,308 122,974,525 RGD:1624198
RGD:8554872
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:8554872
G Zdhhc24 zinc finger, DHHC-type containing 24 JBrowse link 1 220,137,280 220,143,387 RGD:8554872
Bardet-Biedl syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl6 ADP-ribosylation factor like GTPase 6 JBrowse link 11 42,858,476 42,884,324 RGD:8554872
RGD:7240710
G Bbip1 BBSome interacting protein 1 JBrowse link 1 274,649,085 274,663,544 RGD:8554872
G Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:8554872
RGD:7240710
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
G Bbs12 Bardet-Biedl syndrome 12 JBrowse link 2 124,048,513 124,057,026 RGD:8554872
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
G Bbs4 Bardet-Biedl syndrome 4 JBrowse link 8 64,115,005 64,154,432 RGD:8554872
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:8554872
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:8554872
G Ccdc28b coiled coil domain containing 28B JBrowse link 5 147,823,446 147,828,449 RGD:7240710
RGD:8554872
G Lztfl1 leucine zipper transcription factor-like 1 JBrowse link 8 132,774,393 132,790,922 RGD:8554872
G Stx3 syntaxin 3 JBrowse link 1 228,137,781 228,195,004 RGD:11532386
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:11532386
G Ttc8 tetratricopeptide repeat domain 8 JBrowse link 6 122,920,308 122,974,525 RGD:8554872
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:8554872
G Zdhhc24 zinc finger, DHHC-type containing 24 JBrowse link 1 220,137,280 220,143,387 RGD:8554872
BARDET-BIEDL SYNDROME 1/2, DIGENIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
Bardet-Biedl syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
RGD:7240710
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:8554872
G Ttc8 tetratricopeptide repeat domain 8 JBrowse link 6 122,920,308 122,974,525 RGD:8554872
Bardet-Biedl syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:7240710
RGD:8554872
Bardet-Biedl syndrome 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs12 Bardet-Biedl syndrome 12 JBrowse link 2 124,048,513 124,057,026 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
RGD:7240710
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
Bardet-Biedl syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:7240710
RGD:8554872
Bardet-Biedl syndrome 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lztfl1 leucine zipper transcription factor-like 1 JBrowse link 8 132,774,393 132,790,922 RGD:8554872
RGD:7240710
G Stx3 syntaxin 3 JBrowse link 1 228,137,781 228,195,004 RGD:11532386
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:11532386
Bardet-Biedl syndrome 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbip1 BBSome interacting protein 1 JBrowse link 1 274,649,085 274,663,544 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift27 intraflagellar transport 27 JBrowse link 7 119,393,384 119,409,710 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
RGD:7240710
BARDET-BIEDL SYNDROME 2/4, DIGENIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
BARDET-BIEDL SYNDROME 2/6, DIGENIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:8554872
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:8554872
Bardet-Biedl syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl6 ADP-ribosylation factor like GTPase 6 JBrowse link 11 42,858,476 42,884,324 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs4 Bardet-Biedl syndrome 4 JBrowse link 8 64,115,005 64,154,432 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:8554872
RGD:7240710
Bardet-Biedl Syndrome 6/10, Digenic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
Bardet-Biedl syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc8 tetratricopeptide repeat domain 8 JBrowse link 6 122,920,308 122,974,525 RGD:8554872
RGD:7240710
Bardet-Biedl syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:8554872
RGD:7240710
Bardet-Biedl Syndrome, 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift74 intraflagellar transport 74 JBrowse link 5 113,579,065 113,682,485 RGD:8554872
RGD:7240710
Bardet-Biedl Syndrome, 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MGC94199 similar to RIKEN cDNA 2610301B20; EST AI428449 JBrowse link 5
5
24,145,829
23,358,464
24,165,467
23,377,697
RGD:8554872
RGD:7240710
Bart-Pumphrey syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
RGD:7364821
Barth syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Fkbp1a FKBP prolyl isomerase 1A JBrowse link 3 147,042,944 147,062,725 RGD:13592920
G Mest mesoderm specific transcript JBrowse link 4 58,052,786 58,063,227 RGD:13592920
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:7240710
RGD:8554872
RGD:11554173
Basan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` JBrowse link 4 95,884,020 95,945,248 RGD:8554872
RGD:7240710
Beckwith-Wiedemann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1c cyclin-dependent kinase inhibitor 1C JBrowse link 1 216,661,067 216,663,791 RGD:7240710
RGD:8554872
RGD:11554173
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:11554173
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:11554173
RGD:8554872
G Mrpl23 mitochondrial ribosomal protein L23 JBrowse link 1 215,701,544 215,709,313 RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:8554872
G Sptbn1 spectrin, beta, non-erythrocytic 1 JBrowse link 14 114,517,839 114,700,199 RGD:13592920
Beemer-Langer syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hibch 3-hydroxyisobutyryl-CoA hydrolase JBrowse link 9 53,446,185 53,526,727 RGD:7240710
RGD:8554872
Beta-Ureidopropionase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Upb1 beta-ureidopropionase 1 JBrowse link 20 14,167,383 14,193,724 RGD:7240710
RGD:8554872
BIRK-LANDAU-PEREZ SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc30a9 solute carrier family 30 member 9 JBrowse link 14 42,464,814 42,519,760 RGD:8554872
RGD:7240710
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
Bloch-Sulzberger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:1600008
RGD:8554872
RGD:12791266
RGD:7240710
Bloom syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Blm BLM RecQ like helicase JBrowse link 1 142,246,773 142,332,616 RGD:1580056
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1599420
G Lig1 DNA ligase 1 JBrowse link 1 75,356,212 75,394,757 RGD:8554872
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase JBrowse link 7 99,677,295 99,900,765 RGD:13592920
G Ung uracil-DNA glycosylase JBrowse link 12 48,246,593 48,255,547 RGD:11554173
branchiooculofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
RGD:7240710
branchiootic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:7240710
RGD:8554872
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:13592920
Branchiootic Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:7240710
RGD:8554872
branchiootorenal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:1598917
RGD:8554872
RGD:11554173
RGD:8554897
RGD:8554880
RGD:7240710
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:8554876
RGD:8554872
RGD:11554173
RGD:11064057
RGD:8554882
RGD:8554880
RGD:8554879
G Six5 SIX homeobox 5 JBrowse link 1 80,000,106 80,005,303 RGD:7240710
RGD:8554872
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:11554173
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp1 LDL receptor related protein 1 JBrowse link 7 70,846,313 70,927,028 RGD:8554872
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Traf7 TNF receptor associated factor 7 JBrowse link 10 13,874,444 13,893,090 RGD:8554872
RGD:7240710
cardiofaciocutaneous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:7240710
RGD:8554872
RGD:11352608
RGD:11567236
RGD:11554173
RGD:1600471
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:11554173
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:1600471
RGD:8554872
RGD:11554173
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:8554872
RGD:11554173
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
RGD:11554173
G Snapc5 small nuclear RNA activating complex, polypeptide 5 JBrowse link 8 69,127,708 69,131,539 RGD:8554872
G Tipin timeless interacting protein JBrowse link 8 69,753,363 69,768,640 RGD:8554872
Cardiofaciocutaneous Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:7240710
RGD:8554872
Cardiofaciocutaneous Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:8554872
RGD:7240710
Cardiofaciocutaneous Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:7240710
RGD:8554872
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mymk myomaker, myoblast fusion factor JBrowse link 3 5,608,243 5,617,689 RGD:8554872
RGD:7240710
Carney complex 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 Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:13592920
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
RGD:11554173
Carney Complex Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:7240710
RGD:8554872
Caroli disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Angpt2 angiopoietin 2 JBrowse link 16 75,966,480 76,016,147 RGD:2314213
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:11528287
CEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snap29 synaptosome associated protein 29 JBrowse link 11 87,827,633 87,858,107 RGD:7240710
RGD:8554872
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
Cerebrohepatorenal Syndrome, Variant Types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
Cerebrooculofacioskeletal 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:8554872
Cerebrooculofacioskeletal Syndrome 1 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:8554872
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7240710
RGD:8554872
RGD:10401101
RGD:10401092
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 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 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
Char syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tfap2b transcription factor AP-2 beta JBrowse link 9 25,410,669 25,440,568 RGD:7240710
RGD:8554872
CHARGE syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068442
G Chd2 chromodomain helicase DNA binding protein 2 JBrowse link 1 134,757,934 134,873,053 RGD:13592920
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11535051
RGD:11535050
RGD:11535048
RGD:11535041
RGD:11535040
RGD:11067078
RGD:11535032
G Sema3e semaphorin 3E JBrowse link 4 17,314,745 17,594,659 RGD:7240710
RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:13592920
G Wdr11 WD repeat domain 11 JBrowse link 1 202,770,810 202,816,336 RGD:8554872
CHILD 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:11554173
RGD:8554872
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pam16 presequence translocase associated motor 16 JBrowse link 10 11,146,359 11,153,936 RGD:8554872
RGD:7240710
CHOPS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aff4 AF4/FMR2 family, member 4 JBrowse link 10 38,692,167 38,773,021 RGD:8554872
RGD:7240710
Chromosome 17 Deletion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kansl1 KAT8 regulatory NSL complex subunit 1 JBrowse link 10 92,388,045 92,517,449 RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11554173
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872
RGD:11554173
chromosome 17q12 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aatf apoptosis antagonizing transcription factor JBrowse link 10 71,744,648 71,837,851 RGD:8554872
G Acaca acetyl-CoA carboxylase alpha JBrowse link 10 71,519,392 71,719,910 RGD:8554872
G Ccl3 C-C motif chemokine ligand 3 JBrowse link 10 70,869,516 70,871,066 RGD:8554872
G Ccl4 C-C motif chemokine ligand 4 JBrowse link 10 70,870,926 70,886,357 RGD:8554872
G Ddx52 DExD-box helicase 52 JBrowse link 10 71,253,667 71,276,397 RGD:8554872
G Dhrs11 dehydrogenase/reductase 11 JBrowse link 10 72,144,042 72,153,496 RGD:8554872
G Dusp14 dual specificity phosphatase 14 JBrowse link 10 71,363,688 71,383,602 RGD:8554872
G Ggnbp2 gametogenetin binding protein 2 JBrowse link 10 72,156,729 72,188,834 RGD:8554872
G Hnf1b HNF1 homeobox B JBrowse link 10 71,159,863 71,218,902 RGD:8554872
G Lhx1 LIM homeobox 1 JBrowse link 10 71,843,991 71,849,293 RGD:8554872
G LOC102552988 uncharacterized LOC102552988 JBrowse link 10 71,462,168 71,493,312 RGD:8554872
G Mrm1 mitochondrial rRNA methyltransferase 1 JBrowse link 10 72,136,241 72,143,075 RGD:8554872
G Mrpl45 mitochondrial ribosomal protein L45 JBrowse link 10 85,257,876 85,269,806 RGD:8554872
G Myo19 myosin XIX JBrowse link 10 72,198,475 72,227,892 RGD:8554872
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W JBrowse link 10 72,194,774 72,198,415 RGD:8554872
G Synrg synergin, gamma JBrowse link 10 71,278,698 71,357,791 RGD:8554872
G Tada2a transcriptional adaptor 2A JBrowse link 10 71,393,701 71,441,435 RGD:8554872
G Znhit3 zinc finger, HIT-type containing 3 JBrowse link 10 72,227,710 72,235,932 RGD:8554872
chromosome 1q21.1 deletion syndrome 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 Bcl9 BCL9, transcription coactivator JBrowse link 2 199,334,644 199,420,083 RGD:8554872
G Chd1l chromodomain helicase DNA binding protein 1-like JBrowse link 2 199,714,044 199,792,270 RGD:8554872
G Fmo5 flavin containing dimethylaniline monoxygenase 5 JBrowse link 2 199,796,870 199,823,927 RGD:8554872
G Gja5 gap junction protein, alpha 5 JBrowse link 2 199,162,745 199,184,942 RGD:8554872
RGD:11554173
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:8554872
RGD:11554173
G Gpr89b G protein-coupled receptor 89B JBrowse link 2 198,999,945 199,038,702 RGD:8554872
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 JBrowse link 2 199,831,990 199,847,623 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
Ciliary Motility Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 JBrowse link 20 11,060,584 11,144,806 RGD:8554872
G Ak7 adenylate kinase 7 JBrowse link 6 129,538,648 129,606,960 RGD:8554872
G Armc4 armadillo repeat containing 4 JBrowse link 17 60,283,926 60,474,289 RGD:8554872
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Ccdc114 coiled-coil domain containing 114 JBrowse link 1 101,904,042 101,932,999 RGD:8554872
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:8554872
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:8554872
G Ccdc65 coiled-coil domain containing 65 JBrowse link 7 140,383,395 140,397,186 RGD:8554872
G Ccno cyclin O JBrowse link 2 44,857,043 44,860,317 RGD:8554872
G Cdca7l cell division cycle associated 7 like JBrowse link 6 145,739,570 145,785,607 RGD:8554872
G Cfap298 cilia and flagella associated protein 298 JBrowse link 11 31,094,103 31,103,487 RGD:8554872
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:8554872
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
G Dnaaf1 dynein, axonemal, assembly factor 1 JBrowse link 19 52,217,427 52,245,930 RGD:8554872
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:8554872
G Dnaaf5 dynein, axonemal, assembly factor 5 JBrowse link 12 17,545,468 17,584,466 RGD:8554872
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:8554872
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:8554872
G Dnah7 dynein, axonemal, heavy chain 7 JBrowse link 9
9
60,070,087
59,564,253
60,330,121
59,595,347
RGD:8554872
G Dnah8 dynein, axonemal, heavy chain 8 JBrowse link 20 9,301,317 9,560,805 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:8554872
G Dnai2 dynein, axonemal, intermediate chain 2 JBrowse link 10 103,266,343 103,301,521 RGD:8554872
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:8554872
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:8554872
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:8554872
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A JBrowse link 20 11,244,353 11,252,450 RGD:8554872
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:8554872
G Hsf2bp heat shock transcription factor 2 binding protein JBrowse link 20 10,757,172 10,844,177 RGD:8554872
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:11554173
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:11554173
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:8554872
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein JBrowse link 2 44,863,246 44,869,732 RGD:8554872
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:8554872
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 JBrowse link 20 10,265,826 10,275,298 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Pde9a phosphodiesterase 9A JBrowse link 20 10,123,624 10,216,325 RGD:8554872
G Pdxk pyridoxal kinase JBrowse link 20 10,930,651 10,952,194 RGD:8554872
G Pknox1 PBX/knotted 1 homeobox 1 JBrowse link 20 10,331,608 10,358,922 RGD:8554872
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta JBrowse link 12 17,614,536 17,713,567 RGD:8554872
G Pwp2 PWP2, small subunit processome component JBrowse link 20 11,228,892 11,243,204 RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:1599600
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11554173
G Rrp1 ribosomal RNA processing 1 JBrowse link 20 10,982,016 10,993,260 RGD:8554872
G Rrp1b ribosomal RNA processing 1B JBrowse link 20 10,844,234 10,869,830 RGD:8554872
G Rsph1 radial spoke head component 1 JBrowse link 20 9,998,698 10,020,719 RGD:8554872
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:8554872
G Rsph9 radial spoke head 9 homolog JBrowse link 9 17,224,589 17,245,093 RGD:8554872
G Sik1 salt-inducible kinase 1 JBrowse link 20 10,670,747 10,680,279 RGD:8554872
G Slc37a1 solute carrier family 37 member 1 JBrowse link 20 10,026,839 10,087,691 RGD:8554872
G Synj1 synaptojanin 1 JBrowse link 11 31,105,784 31,181,573 RGD:8554872
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C JBrowse link 19 52,246,061 52,252,642 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:8554872
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:8554872
G Ttc14 tetratricopeptide repeat domain 14 JBrowse link 2 120,266,883 120,277,505 RGD:8554872
G U2af1 U2 small nuclear RNA auxiliary factor 1 JBrowse link 20 10,396,652 10,407,564 RGD:8554872
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:8554872
G Zmynd10 zinc finger, MYND-type containing 10 JBrowse link 8 116,302,513 116,306,871 RGD:8554872
ciliopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam92a family with sequence similarity 92 member A JBrowse link 5 25,732,457 25,750,953 RGD:11554173
G Ift81 intraflagellar transport 81 JBrowse link 12 39,420,161 39,507,412 RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:13592920
G Nek4 NIMA-related kinase 4 JBrowse link 16 7,035,002 7,080,272 RGD:8554872
G Sclt1 sodium channel and clathrin linker 1 JBrowse link 2 128,523,376 128,675,668 RGD:13592920
G Wdr11 WD repeat domain 11 JBrowse link 1 202,770,810 202,816,336 RGD:13592920
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:11552606
RGD:13592920
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
Clouston syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:13592920
RGD:8554872
COACH Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11535946
RGD:11535944
Cockayne syndrome 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:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:10401080
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:10401087
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:10401090
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
RGD:11554173
RGD:11567232
RGD:10401100
RGD:10401095
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:7246919
RGD:11064547
RGD:8554872
RGD:11554173
RGD:10401108
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:10003139
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:10003139
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:10401087
Cockayne Syndrome A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:10401106
RGD:8554872
RGD:7240710
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
Cockayne Syndrome B 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:8554872
RGD:7240710
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
Coffin-Siris Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 JBrowse link 7 2,875,898 2,905,463 RGD:7240710
Combined Pituitary Hormone Deficiency, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acbd6 acyl-CoA binding domain containing 6 JBrowse link 13 73,196,504 73,334,077 RGD:8554872
G Hesx1 HESX homeobox 1 JBrowse link 16 2,616,538 2,636,708 RGD:8554872
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:8554872
G Lhx4 LIM homeobox 4 JBrowse link 13 73,348,874 73,400,416 RGD:8554872
G Pou1f1 POU class 1 homeobox 1 JBrowse link 11 2,645,659 2,662,581 RGD:7240710
RGD:8554872
Combined Pituitary Hormone Deficiency, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acbd6 acyl-CoA binding domain containing 6 JBrowse link 13 73,196,504 73,334,077 RGD:8554872
G Lhx4 LIM homeobox 4 JBrowse link 13 73,348,874 73,400,416 RGD:7240710
RGD:8554872
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pbx1 PBX homeobox 1 JBrowse link 13 86,390,741 86,671,460 RGD:8554872
RGD:7240710
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg1 desmoglein 1 JBrowse link 18 12,008,301 12,040,337 RGD:7240710
RGD:8554872
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkd1 protein kinase D1 JBrowse link 6 71,035,017 71,349,531 RGD:8554872
RGD:7240710
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:8554872
RGD:7240710
Congenital Ichthyosis with Trichothiodystrophy 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:8554872
congenital secretory sodium diarrhea 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spint2 serine peptidase inhibitor, Kunitz type, 2 JBrowse link 1 87,199,373 87,221,826 RGD:7240710
RGD:8554872
Contiguous Abcd1/Dxs1375e Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcap31 B-cell receptor-associated protein 31 JBrowse link X 157,094,365 157,126,397 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 Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 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:8554872
RGD:11554173
Cornelia de Lange syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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:8554872
RGD:7240710
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 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smc3 structural maintenance of chromosomes 3 JBrowse link 1 274,310,120 274,352,856 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
Costello syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:11554173
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:7240710
RGD:8554872
RGD:11070051
RGD:11085804
RGD:11554173
RGD:10412308
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:11554173
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:11554173
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:11554173
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872
Cranioectodermal Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:8554872
RGD:7240710
Cranioectodermal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spag17 sperm associated antigen 17 JBrowse link 2 202,159,659 202,452,361 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:7240710
RGD:8554872
RGD:11553909
Cranioectodermal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:7240710
RGD:8554872
Cranioectodermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
RGD:11552606
Craniofacial Deafness Hand Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:7240710
RGD:8554872
RGD:11554173
Craniosynostosis Syndrome, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:8554872
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
Culler-Jones syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:7240710
RGD:8554872
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:8554872
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
Desmosterolosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhcr24 24-dehydrocholesterol reductase JBrowse link 5 126,164,708 126,188,926 RGD:7240710
RGD:8554872
dextrocardia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfap53 cilia and flagella associated protein 53 JBrowse link 18 70,263,290 70,330,420 RGD:8554872
G Rai2 retinoic acid induced 2 JBrowse link X 34,731,891 34,794,589 RGD:8554872
G Rock2 Rho-associated coiled-coil containing protein kinase 2 JBrowse link 6 42,180,864 42,289,910 RGD:8554872
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit JBrowse link 15 28,574,841 28,611,959 RGD:8554872
G Zfyve16 zinc finger FYVE-type containing 16 JBrowse link 2 22,060,879 22,105,822 RGD:8554872
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:11554173
DiGeorge syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 JBrowse link 8 77,640,234 77,719,488 RGD:734550
RGD:13592920
G Arvcf ARVCF, delta catenin family member JBrowse link 11 86,736,125 86,793,795 RGD:1578806
RGD:8554872
G Cdc45 cell division cycle 45 JBrowse link 11 86,328,785 86,354,099 RGD:8554872
G Chrd chordin JBrowse link 11 83,858,503 83,867,543 RGD:13592920
G Cldn5 claudin 5 JBrowse link 11 86,356,292 86,357,718 RGD:8554872
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:11554173
RGD:8554872
G Crkl CRK like proto-oncogene, adaptor protein JBrowse link 11 87,338,606 87,356,644 RGD:11554173
G Dgcr2 DiGeorge syndrome critical region gene 2 JBrowse link 11 87,242,441 87,290,806 RGD:11554173
RGD:8554872
G Dgcr6 DiGeorge syndrome critical region gene 6 JBrowse link 11 87,076,205 87,081,306 RGD:11554173
G Dgcr8 DGCR8 microprocessor complex subunit JBrowse link 11 86,852,682 86,885,233 RGD:11554173
G Dicer1 dicer 1 ribonuclease III JBrowse link 6 128,388,084 128,453,234 RGD:13592920
G Dock1 dedicator of cyto-kinesis 1 JBrowse link 1 206,900,617 207,414,852 RGD:13592920
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:1580898
G Ess2 ess-2 splicing factor homolog JBrowse link 11 87,224,371 87,234,329 RGD:11554173
RGD:8554872
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Foxn1 forkhead box N1 JBrowse link 10 65,621,142 65,634,666 RGD:13592920
G Gnb1l G protein subunit beta 1 like JBrowse link 11 86,575,229 86,655,614 RGD:8554872
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link 11 86,520,992 86,522,169 RGD:8554872
G Gsc2 goosecoid homeobox 2 JBrowse link 11 87,220,618 87,222,606 RGD:8554872
G Hira histone cell cycle regulator JBrowse link 11 86,168,196 86,276,430 RGD:8554872
G Hoxa3 homeobox A3 JBrowse link 4 82,137,802 82,181,836 RGD:13592920
G Kat6a lysine acetyltransferase 6A JBrowse link 16 73,942,669 74,020,750 RGD:9590333
RGD:13592920
G LOC102548901 protein Bop-like JBrowse link 12 6,230,524 6,231,398 RGD:8554872
G LOC498122 similar to CG15908-PA JBrowse link 11 86,299,210 86,303,453 RGD:8554872
G Mrpl40 mitochondrial ribosomal protein L40 JBrowse link 11 86,276,616 86,282,452 RGD:8554872
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link 18 55,951,497 56,014,107 RGD:13592920
G Plxnd1 plexin D1 JBrowse link 4 147,854,309 147,894,170 RGD:13592920
G Prodh1 proline dehydrogenase 1 JBrowse link 11 87,058,478 87,075,785 RGD:8554872
G Sept5 septin 5 JBrowse link 11 86,516,377 86,522,169 RGD:8554872
G Slc25a1 solute carrier family 25 member 1 JBrowse link 11 87,204,248 87,207,265 RGD:8554872
G Tbx1 T-box 1 JBrowse link 11 86,552,022 86,561,647 RGD:7240710
RGD:8554872
RGD:11554173
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:13592920
G Tssk2 testis-specific serine kinase 2 JBrowse link 11 87,235,058 87,236,413 RGD:8554872
G Txnrd2 thioredoxin reductase 2 JBrowse link 11 86,667,994 86,716,063 RGD:8554872
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 JBrowse link 11 86,304,836 86,328,478 RGD:1580803
RGD:8554872
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:13592920
G Zfp366 zinc finger protein 366 JBrowse link 2 29,410,169 29,498,661 RGD:13592920
Dilated Cardiomyopathy with Left Ventricular Noncompaction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:8554872
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Ctnna3 catenin alpha 3 JBrowse link 20 25,063,124 26,640,428 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Dtna dystrobrevin, alpha JBrowse link 18 14,544,725 14,671,514 RGD:8554872
G Fhl2 four and a half LIM domains 2 JBrowse link 9 49,920,611 49,994,906 RGD:8554872
G Jph2 junctophilin 2 JBrowse link 3 159,709,998 159,776,536 RGD:8554872
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G<