ONTOLOGY REPORT - ANNOTATIONS


Term:genetic disease
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Accession:DOID:630 term browser browse the term
Definition:A disease that has_material_basis_in genetic variations in the human genome.
For additional species annotation, visit the Alliance of Genome Resources.


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genetic disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca5 ATP binding cassette subfamily A member 5 JBrowse link 10 98,573,226 98,645,028 RGD:8554872
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:8554872
G Acat1 acetyl-CoA acetyltransferase 1 JBrowse link 8 58,166,990 58,195,884 RGD:8554872
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:8554872
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:8554872
G Actg2 actin, gamma 2, smooth muscle, enteric 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 Aff2 AF4/FMR2 family, member 2 JBrowse link X 153,539,951 154,051,022 RGD:8554872
G Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 JBrowse link 12 12,738,784 12,748,345 RGD:8554872
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase JBrowse link 10 10,539,930 10,550,178 RGD:8554872
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 115,561,329 115,589,792 RGD:8554872
G Als2 ALS2, alsin Rho guanine nucleotide exchange factor JBrowse link 9 65,961,361 66,034,396 RGD:8554872
G Ampd2 adenosine monophosphate deaminase 2 JBrowse link 2 210,861,624 210,874,348 RGD:8554872
G Anapc15 anaphase promoting complex subunit 15 JBrowse link 1 166,981,738 166,985,363 RGD:8554872
G Ang angiogenin JBrowse link 15 28,022,926 28,028,636 RGD:8554872
G Ank3 ankyrin 3 JBrowse link 20 19,948,767 20,480,628 RGD:8554872
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:8554872
G Ano3 anoctamin 3 JBrowse link 3 101,843,516 102,203,368 RGD:8554872
G Arhgap11a Rho GTPase activating protein 11A JBrowse link 3 105,281,827 105,298,108 RGD:8554872
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 JBrowse link X 64,249,576 64,428,444 RGD:8554872
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:8554872
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Aspm abnormal spindle microtubule assembly JBrowse link 13 56,546,021 56,591,793 RGD:8554872
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 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 157,236,400 157,312,028 RGD:8554872
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:8554872
G Bag3 Bcl2-associated athanogene 3 JBrowse link 1 199,941,258 199,965,191 RGD:8554872
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
G Bicd2 BICD cargo adaptor 2 JBrowse link 17 15,673,649 15,718,035 RGD:8554872
G Brat1 BRCA1-associated ATM activator 1 JBrowse link 12 16,016,062 16,028,534 RGD:8554872
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:8554872
G Cacna1e calcium voltage-gated channel subunit alpha1 E JBrowse link 13 71,899,445 72,534,992 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 Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
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 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 Cog7 component of oligomeric golgi complex 7 JBrowse link 1 191,889,332 191,948,977 RGD:1600879
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 Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:8554872
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:8554872
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 RGD:8554872
G Cul7 cullin 7 JBrowse link 9 16,629,491 16,643,527 RGD:8554872
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 JBrowse link 2 102,701,903 102,871,257 RGD:8554872
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Dgkz diacylglycerol kinase zeta JBrowse link 3 80,844,002 80,886,487 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 Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:8554872
G Dpysl2 dihydropyrimidinase-like 2 JBrowse link 15 43,475,640 43,581,725 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 Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:8554872
G Egln1 egl-9 family hypoxia-inducible factor 1 JBrowse link 19 57,660,194 57,701,158 RGD:8554872
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link 3 1,966,974 2,123,858 RGD:8554872
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 JBrowse link 12 12,749,026 12,782,078 RGD:8554872
G Elp2 elongator acetyltransferase complex subunit 2 JBrowse link 18 16,544,515 16,581,086 RGD:8554872
G Emilin1 elastin microfibril interfacer 1 JBrowse link 6 26,821,249 26,829,013 RGD:8554872
G Epg5 ectopic P-granules autophagy protein 5 homolog JBrowse link 18 74,299,965 74,397,115 RGD:8554872
G Espn espin JBrowse link 5 169,293,356 169,331,338 RGD:8554872
G Etfb electron transfer flavoprotein beta subunit JBrowse link 1 98,472,776 98,486,940 RGD:8554872
G Etfdh electron transfer flavoprotein dehydrogenase JBrowse link 2 178,367,547 178,389,641 RGD:8554872
G Etv6 ets variant 6 JBrowse link 4 167,754,684 167,992,370 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 Fanca Fanconi anemia, complementation group A JBrowse link 19 56,067,548 56,126,075 RGD:8554872
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Fkbp10 FK506 binding protein 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
G Flg filaggrin JBrowse link 2 193,565,401 193,574,297 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 methyltransferase homolog 1 JBrowse link X 14,993,685 15,006,010 RGD:8554872
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 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 Gbe1 1,4-alpha-glucan branching enzyme 1 JBrowse link 11 7,210,169 7,485,895 RGD:8554872
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:8554872
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 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 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 Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:8554872
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 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 Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 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 1, E3 ubiquitin protein ligase JBrowse link X 21,474,627 21,603,348 RGD:8554872
G Il21r interleukin 21 receptor JBrowse link 1 196,996,405 197,024,185 RGD:8554872
G Iqsec2 IQ motif and Sec7 domain 2 JBrowse link X 22,212,137 22,293,810 RGD:8554872
G Itga11 integrin subunit alpha 11 JBrowse link 8 67,566,874 67,683,973 RGD:8554872
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:8554872
G Itsn1 intersectin 1 JBrowse link 11 31,943,119 32,069,249 RGD:8554872
G Jag1 jagged 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Jak1 Janus kinase 1 JBrowse link 5 119,982,503 120,091,452 RGD:8554872
G Jph2 junctophilin 2 JBrowse link 3 159,709,998 159,776,536 RGD:8554872
G Kars lysyl-tRNA synthetase JBrowse link 19 44,212,205 44,231,209 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 Kdm6b lysine demethylase 6B JBrowse link 10 56,000,494 56,009,582 RGD:8554872
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
G Klhl9 kelch-like family member 9 JBrowse link 5 107,323,258 107,327,442 RGD:8554872
G Kmt2a lysine methyltransferase 2A JBrowse link 8 49,110,407 49,185,872 RGD:8554872
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 LCA5, lebercilin JBrowse link 8 90,926,309 90,984,271 RGD:8554872
G Ldlr low density lipoprotein receptor JBrowse link 8 22,750,425 22,773,305 RGD:8554872
G Lins1 lines homolog 1 JBrowse link 1 127,599,647 127,625,583 RGD:8554872
G Lmbrd1 LMBR1 domain containing 1 JBrowse link 9 30,939,555 31,038,381 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G LOC103689964 vacuolar ATPase assembly integral membrane protein Vma21 JBrowse link 17 34,940,424 34,946,009 RGD:8554872
G Lrfn5 leucine rich repeat and fibronectin type III domain containing 5 JBrowse link 6 83,082,593 83,438,601 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 Maoa monoamine oxidase A JBrowse link X 6,554,698 6,620,722 RGD:8554872
G Mapk1 mitogen activated protein kinase 1 JBrowse link 11 88,203,863 88,273,301 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 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 Mtif2 mitochondrial translational initiation factor 2 JBrowse link 14 113,946,084 113,965,574 RGD:8554872
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:8554872
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:8554872
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 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 Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:8554872
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:8554872
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:8554872
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 123,803,109 123,806,760 RGD:8554872
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 3 133,232,412 133,261,932 RGD:8554872
G Neb nebulin JBrowse link 3 37,658,081 37,855,843 RGD:8554872
G Nefh neurofilament heavy JBrowse link 14 85,181,572 85,191,557 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 Nid1 nidogen 1 JBrowse link 17 90,553,161 90,627,133 RGD:8554872
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:8554872
G Nrxn1 neurexin 1 JBrowse link 6 13,886,757 15,191,660 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 Nubpl nucleotide binding protein-like JBrowse link 6 72,891,758 73,147,837 RGD:8554872
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF JBrowse link 10 45,353,185 45,483,570 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Ogdhl oxoglutarate dehydrogenase-like JBrowse link 16 8,497,495 8,523,552 RGD:8554872
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase JBrowse link X 71,540,870 71,585,906 RGD:8554872
G Ophn1 oligophrenin 1 JBrowse link X 68,185,865 68,579,518 RGD:8554872
G Orc1 origin recognition complex, subunit 1 JBrowse link 5 128,186,651 128,212,901 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 Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 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 Pex10 peroxisomal biogenesis factor 10 JBrowse link 5 172,469,978 172,475,144 RGD:8554872
G Pex19 peroxisomal biogenesis factor 19 JBrowse link 13 90,514,324 90,530,825 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 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 Psph phosphoserine phosphatase JBrowse link 12 30,514,128 30,526,551 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 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 Rars2 arginyl-tRNA synthetase 2, mitochondrial JBrowse link 5 50,075,510 50,127,625 RGD:8554872
G Rbm10 RNA binding motif protein 10 JBrowse link X 1,754,869 1,786,973 RGD:8554872
G Rfxank regulatory factor X-associated ankyrin-containing protein JBrowse link 16 21,029,449 21,037,080 RGD:8554872
G Rif1 replication timing regulatory factor 1 JBrowse link 3 37,599,540 37,648,818 RGD:8554872
G Rnase4 ribonuclease A family member 4 JBrowse link 15 28,018,040 28,035,395 RGD:8554872
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:8554872
G Rorb RAR-related orphan receptor B JBrowse link 1 234,252,757 234,442,597 RGD:8554872
G Rpusd3 RNA pseudouridylate synthase domain containing 3 JBrowse link 4 145,361,937 145,370,992 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Ryr3 ryanodine receptor 3 JBrowse link 3 104,117,307 104,665,151 RGD:8554872
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:8554872
G Sbf2 SET binding factor 2 JBrowse link 1 174,948,361 175,420,161 RGD:8554872
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 Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:8554872
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 Sftpb surfactant protein B JBrowse link 4 100,166,855 100,175,941 RGD:4143399
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:4143399
G Shank3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 7 130,474,278 130,534,679 RGD:8554872
G Shroom4 shroom family member 4 JBrowse link X 16,723,360 16,929,829 RGD:8554872
G Slc27a4 solute carrier family 27 member 4 JBrowse link 3 8,363,937 8,376,858 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 Sms spermine synthase JBrowse link X 40,363,646 40,415,110 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 Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:8554872
G Sri sorcin JBrowse link 4 23,004,657 23,029,233 RGD:8554872
G Stat2 signal transducer and activator of transcription 2 JBrowse link 7 2,691,064 2,707,530 RGD:8554872
G Stil STIL, centriolar assembly protein JBrowse link 5 133,819,302 133,851,362 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 Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:8554872
G Syp synaptophysin JBrowse link X 15,694,699 15,709,244 RGD:8554872
G Tbx6 T-box 6 JBrowse link 1 198,214,797 198,218,706 RGD:8554872
G Tgm6 transglutaminase 6 JBrowse link 3 122,644,183 122,680,054 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 Tpp1 tripeptidyl peptidase 1 JBrowse link 1 170,588,036 170,594,159 RGD:8554872
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 Ttn titin JBrowse link 3 63,565,160 63,837,815 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 Unc80 unc-80 homolog, NALCN channel complex subunit JBrowse link 9 73,492,907 73,686,578 RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:11554173
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link 7 74,118,834 74,722,341 RGD:8554872
G Vps35 VPS35 retromer complex component JBrowse link 19 27,464,937 27,500,636 RGD:8554872
G Vrk1 vaccinia related kinase 1 JBrowse link 6 129,835,788 129,902,839 RGD:8554872
G Washc4 WASH complex subunit 4 JBrowse link 7 26,309,279 26,361,221 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 Zfhx3 zinc finger homeobox 3 JBrowse link 19 42,753,983 42,925,794 RGD:8554872
G Zfp335 zinc finger protein 335 JBrowse link 3 161,357,201 161,378,073 RGD:8554872
G Zfyve26 zinc finger FYVE-type containing 26 JBrowse link 6 102,409,235 102,472,962 RGD:8554872
G Zmynd11 zinc finger, MYND-type containing 11 JBrowse link 17 63,825,616 63,914,740 RGD:8554872
3-M syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cul7 cullin 7 JBrowse link 9 16,629,491 16,643,527 RGD:7240710
RGD:8554872
G Obsl1 obscurin-like 1 JBrowse link 9 82,673,871 82,699,577 RGD:8554872
Aarskog syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:11554024
RGD:11554173
RGD:8554872
RGD:7240710
RGD:11554031
RGD:11554030
RGD:11554029
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
adult hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, liver/bone/kidney JBrowse link 5 156,086,496 156,141,513 RGD:8554872
RGD:7240710
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
Aicardi-Goutieres syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adar adenosine deaminase, RNA-specific JBrowse link 2 189,045,551 189,085,448 RGD:8554872
RGD:11554173
RGD:11069491
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 3 48,557,696 48,604,097 RGD:11554173
G Kat5 lysine acetyltransferase 5 JBrowse link 1 220,967,795 220,974,596 RGD:8554872
G Rnaseh2a ribonuclease H2, subunit A JBrowse link 19 26,074,980 26,084,780 RGD:8554872
G Rnaseh2b ribonuclease H2, subunit B JBrowse link 15 45,422,010 45,472,792 RGD:8554872
RGD:7240710
G Rnaseh2c ribonuclease H2, subunit C JBrowse link 1 220,966,626 220,967,717 RGD:8554872
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 3 153,210,829 153,250,705 RGD:8554872
RGD:11554173
G Tldc2 TBC/LysM-associated domain containing 2 JBrowse link 3 153,195,295 153,208,118 RGD:8554872
G Trex1 three prime repair exonuclease 1 JBrowse link 8 117,796,127 117,797,427 RGD:8554872
RGD:11554173
RGD:7240710
G Usp18 ubiquitin specific peptidase 18 JBrowse link 4 153,812,312 153,834,374 RGD:11554173
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a2 solute carrier family 16 member 2 JBrowse link X 74,578,600 74,706,068 RGD:8554872
RGD:7240710
alpha thalassemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11352811
G Hba-a1 hemoglobin alpha, adult chain 1 JBrowse link 10 15,602,794 15,603,649 RGD:10449442
RGD:11554173
RGD:8554872
RGD:7240710
RGD:10755567
RGD:11353869
RGD:10755568
RGD:10755575
RGD:10755570
G Hba-a2 hemoglobin alpha, adult chain 2 JBrowse link 10 15,589,364 15,590,207 RGD:1599361
RGD:11554173
RGD:8554872
RGD:7240710
RGD:10449442
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:11353869
RGD:11554173
RGD:8554872
G Hbz hemoglobin subunit zeta JBrowse link 10 15,609,348 15,610,826 RGD:8554872
G Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:11041792
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:9586027
RGD:8554872
RGD:7240710
RGD:9586030
RGD:9586029
Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:1600924
RGD:11554173
RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:8554872
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:1600687
RGD:8554872
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7175090
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Mmp12 matrix metallopeptidase 12 JBrowse link 8 5,594,717 5,616,494 RGD:7241212
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:7241252
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:11554173
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365078
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:8696013
RGD:11554173
RGD:8554872
RGD:7240710
RGD:1601169
RGD:8696018
RGD:8696016
RGD:8696015
RGD:8696014
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:7240710
RGD:11554173
RGD:8554872
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
RGD:7240710
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
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:12859273
RGD:11554173
RGD:8554872
RGD:7240710
RGD:12859274
RGD:1358469
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:11568643
RGD:11554173
RGD:8554872
RGD:7240710
Antley-Bixler syndrome 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:12801485
RGD:11554173
RGD:8554872
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:11554173
RGD:8554872
asphyxiating thoracic dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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:8554872
RGD:11554173
RGD:7240710
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:11554173
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:8554872
RGD:11554173
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:11554173
G Ift52 intraflagellar transport 52 JBrowse link 3 159,388,868 159,413,358 RGD:11554173
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:11554173
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:11069733
RGD:11554173
RGD:8554872
RGD:11072153
RGD:7240710
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:11554173
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:11554173
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
asphyxiating thoracic dystrophy 1 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 Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:8554872
G Smc4 structural maintenance of chromosomes 4 JBrowse link 2 165,600,934 165,629,415 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
RGD:11554173
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
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 Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:7240710
RGD:8554872
G Fam98c family with sequence similarity 98, member C JBrowse link 1 88,095,240 88,098,828 RGD:8554872
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
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
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa1 homeobox A1 JBrowse link 4 82,124,358 82,127,182 RGD:11553818
RGD:11554173
RGD:8554872
RGD:7240710
G Hoxa2 homeobox A2 JBrowse link 4 82,130,441 82,134,846 RGD:8554872
autosomal dominant Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:7240710
RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:8554872
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:6902925
autosomal dominant keratitis-ichthyosis-deafness 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:7364811
RGD:8554872
RGD:7240710
RGD:7364889
RGD:7364813
RGD:7364885
RGD:7364809
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 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:8554872
RGD:11554173
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 Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:8554872
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 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:8554872
RGD:11554173
RGD:7175280
RGD:1601399
RGD:7175279
G Pkd2 polycystin 2, transient receptor potential cation channel JBrowse link 14 6,602,004 6,645,257 RGD:8554872
RGD:11554173
RGD:7175273
RGD:7175279
RGD:7240710
G Pkhd1 polycystic kidney and hepatic disease 1 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 Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr1 C-C motif chemokine receptor 1 JBrowse link 8 132,996,646 133,002,201 RGD:5688157
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:7240710
RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:7240710
RGD:8554872
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
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:12879406
RGD:2325220
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:10040950
G Aqp1 aquaporin 1 JBrowse link 4 85,551,503 85,563,683 RGD:2307071
RGD:11554173
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
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 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
G Pkd2 polycystin 2, transient receptor potential cation channel JBrowse link 14 6,602,004 6,645,257 RGD:8554872
G Pkhd1 polycystic kidney and hepatic disease 1 JBrowse link 9 26,164,969 26,736,704 RGD:70439
RGD:11554173
RGD:8554872
RGD:7240710
RGD:1642441
G Pkhd1pck polycystic kidney and hepatic disease 1,polycystic kidney disease RGD:70439
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
Axenfeld-Rieger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dact1 dishevelled-binding antagonist of beta-catenin 1 JBrowse link 6 93,740,440 93,751,003 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:12904042
RGD:8554872
RGD:12904045
RGD:12904044
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
RGD:12910560
RGD:12910558
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:11554173
RGD:8554872
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
Axenfeld-Rieger syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:7240710
RGD:8554872
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 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:11352646
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:70665
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: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
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
RGD:11554173
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 Meckel syndrome, type 1 JBrowse link 10 75,149,814 75,160,481 RGD:11070512
RGD:11554173
RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:11352646
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 Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:11070512
RGD:11554173
RGD:8554872
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 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:7240710
G Bbs12 Bardet-Biedl syndrome 12 JBrowse link 2 124,048,513 124,057,026 RGD:7240710
G Bbs2 Bardet-Biedl syndrome 2 JBrowse link 19 11,385,921 11,421,523 RGD:7240710
G Bbs4 Bardet-Biedl syndrome 4 JBrowse link 8 64,115,005 64,154,432 RGD:7240710
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:7240710
RGD:8554872
G Bbs7 Bardet-Biedl syndrome 7 JBrowse link 2 123,283,402 123,322,991 RGD:8554872
RGD:7240710
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:7240710
G Ccdc28b coiled coil domain containing 28B JBrowse link 5 147,823,446 147,828,449 RGD:7240710
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
G Ift27 intraflagellar transport 27 JBrowse link 7 119,393,384 119,409,710 RGD:7240710
G Kmt2d lysine methyltransferase 2D JBrowse link 7 140,507,137 140,542,479 RGD:7240710
G Lztfl1 leucine zipper transcription factor-like 1 JBrowse link 8 132,774,393 132,790,922 RGD:7240710
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:7240710
G Mks1 Meckel syndrome, type 1 JBrowse link 10 75,149,814 75,160,481 RGD:7240710
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:11554173
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 Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:7240710
G Ttc8 tetratricopeptide repeat domain 8 JBrowse link 6 122,920,308 122,974,525 RGD:8554872
RGD:7240710
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:7240710
G Zdhhc24 zinc finger, DHHC-type containing 24 JBrowse link 1 220,137,280 220,143,387 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:8554872
RGD:7240710
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 Meckel syndrome, type 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 Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
RGD:7240710
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:7240710
RGD:8554872
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:7240710
RGD:8554872
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 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:7240710
RGD:8554872
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:7240710
RGD:8554872
Bardet-Biedl syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt2d lysine methyltransferase 2D JBrowse link 7 140,507,137 140,542,479 RGD:7240710
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:8554872
RGD:7240710
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
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:7364821
RGD:8554872
RGD:7240710
Beare-Stevenson cutis gyrata syndrome 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:7240710
RGD:8554872
beta thalassemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc6 ATP binding cassette subfamily C member 6 JBrowse link 1 101,954,786 102,013,252 RGD:11038787
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:11354944
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:11039491
G Bcl11a B-cell CLL/lymphoma 11A JBrowse link 14 108,826,717 108,921,197 RGD:11100008
RGD:11099969
RGD:11100011
RGD:11100005
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase JBrowse link 6 26,657,507 26,680,459 RGD:11554173
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:11041572
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:11041179
G Dhodh dihydroorotate dehydrogenase (quinone) JBrowse link 19 42,066,103 42,087,906 RGD:11554173
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:11554173
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:10450613
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:11352730
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:11052141
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10755320
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:11041616
RGD:11554173
RGD:11041617
G Hba-a1 hemoglobin alpha, adult chain 1 JBrowse link 10 15,602,794 15,603,649 RGD:11554173
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:11353868
RGD:11554173
RGD:8554872
RGD:7240710
RGD:1600575
RGD:1600895
RGD:1600893
G Hbs1l HBS1-like translational GTPase JBrowse link 1 16,819,170 16,896,234 RGD:11353877
G Hfe hemochromatosis JBrowse link 17 43,661,276 43,669,327 RGD:10755537
RGD:10755489
G Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:11041795
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743604
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11051969
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11041617
G Lcn2 lipocalin 2 JBrowse link 3 11,414,189 11,417,534 RGD:11554173
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552583
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11041746
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11038664
G Tfr2 transferrin receptor 2 JBrowse link 12 22,177,382 22,194,330 RGD:11062138
RGD:11554173
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11062138
RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10449458
G Umps uridine monophosphate synthetase JBrowse link 11 70,034,181 70,044,590 RGD:11554173
beta-ketothiolase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acat1 acetyl-CoA acetyltransferase 1 JBrowse link 8 58,166,990 58,195,884 RGD:7240710
RGD:8554872
Birk-Barel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnk9 potassium two pore domain channel subfamily K member 9 JBrowse link 7 113,894,918 113,938,397 RGD:8554872
RGD:7240710
Birt-Hogg-Dube syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flcn folliculin JBrowse link 10 46,153,185 46,172,331 RGD:1598946
RGD:11554173
RGD:8554872
RGD:7240710
Bjornstad syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:8554872
RGD:7240710
Blau syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:8158040
RGD:11554173
RGD:8554872
RGD:7240710
RGD:8158051
RGD:8547518
RGD:8547515
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:1598958
RGD:8554872
RGD:7240710
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
Bloom syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Blm Bloom syndrome RecQ like helicase JBrowse link 1 142,246,773 142,332,616 RGD:1580056
RGD:11554173
RGD:8554872
RGD:7240710
RGD:1599420
G Lig1 DNA ligase 1 JBrowse link 1 75,356,212 75,394,757 RGD:8554872
G Ung uracil-DNA glycosylase JBrowse link 12 48,246,593 48,255,547 RGD:11554173
Bowen-Conradi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emg1 EMG1 N1-specific pseudouridine methyltransferase JBrowse link 4 157,222,366 157,230,647 RGD:7240710
RGD:8554872
brachydactyly-syndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:8554872
RGD:11554173
RGD:7240710
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:7240710
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:7240710
RGD:8554872
branched-chain keto acid dehydrogenase kinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bckdk branched chain ketoacid dehydrogenase kinase JBrowse link 1 199,351,628 199,356,299 RGD:7240710
RGD:8554872
G Kng2 kininogen 2 JBrowse link 11 81,509,185 81,516,759 RGD:7240710
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
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:8554880
RGD:11554173
RGD:8554872
RGD:7240710
RGD:1598917
RGD:8554897
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:8554879
RGD:11554173
RGD:8554872
RGD:11064057
RGD:8554882
RGD:8554880
RGD:8554876
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:8554872
RGD:11554173
RGD:7240710
Brooke-Spiegler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyld CYLD lysine 63 deubiquitinase JBrowse link 19 19,264,984 19,323,817 RGD:8554872
RGD:11554173
RGD:7240710
Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:11554173
G Slc52a3 solute carrier family 52 member 3 JBrowse link 3 147,503,266 147,517,935 RGD:8554872
RGD:7240710
camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prg4 proteoglycan 4 JBrowse link 13 67,672,588 67,688,902 RGD:7240710
RGD:11554173
RGD:8554872
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 Prkar1a protein kinase cAMP-dependent type 1 regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:8554872
RGD:7240710
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:8554872
RGD:7240710
Chediak-Higashi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lyst lysosomal trafficking regulator JBrowse link 17 90,323,055 90,522,091 RGD:633300
RGD:8554872
RGD:7240710
cherubism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3bp2 SH3-domain binding protein 2 JBrowse link 14 81,435,445 81,473,013 RGD:1599339
RGD:8554872
RGD:7240710
childhood hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, liver/bone/kidney JBrowse link 5 156,086,496 156,141,513 RGD:8554872
RGD:7240710
chondrodysplasia punctata term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arse arylsulfatase E JBrowse link 2 122,876,645 122,884,673 RGD:1599238
G Ebp emopamil binding protein (sterol isomerase) JBrowse link X 15,049,394 15,055,782 RGD:734908
RGD:11554173
RGD:8554872
chromosomal disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pot1 protection of telomeres 1 JBrowse link 4 51,888,632 51,946,764 RGD:11554173
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 1 123,897,341 124,039,263 RGD:8554872
RGD:11554173
G Fan1 FANCD2 and FANCI associated nuclease 1 JBrowse link 1 125,182,117 125,209,772 RGD:8554872
G Klf13 Kruppel-like factor 13 JBrowse link 1 124,772,596 124,803,363 RGD:8554872
RGD:11554173
G Mir211 microRNA 211 JBrowse link 1 125,042,119 125,042,224 RGD:8554872
G Mtmr10 myotubularin related protein 10 JBrowse link 1 125,124,743 125,175,857 RGD:8554872
G Otud7a OTU deubiquitinase 7A JBrowse link 1 124,311,873 124,655,437 RGD:8554872
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:8554872
chromosome 15q24 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:8554872
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 1p32-p31 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfia nuclear factor I/A JBrowse link 5 116,421,895 116,750,381 RGD:11554173
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 B-cell CLL/lymphoma 9 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 monooxygenase 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:8554872
RGD:7240710
ciliopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift81 intraflagellar transport 81 JBrowse link 12 39,420,161 39,507,412 RGD:8554872
G Nek4 NIMA-related kinase 4 JBrowse link 16 7,035,002 7,080,272 RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:11552606
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:8554872
RGD:11554173
RGD:7240710
Clouston syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bms1 BMS1 ribosome biogenesis factor JBrowse link 4 150,433,567 150,471,783 RGD:8554872
RGD:7240710
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:1599828
RGD:8554872
RGD:7240710
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:11554173
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:1600184
G Krt17 keratin 17 JBrowse link 10 88,158,993 88,163,712 RGD:1600184
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:1599795
G Pkp1 plakophilin 1 JBrowse link 13 52,705,174 52,753,089 RGD:1599084
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11568633
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 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:8554872
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:11567232
RGD:11554173
RGD:8554872
RGD:10401095
RGD:10401100
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:7246919
RGD:11554173
RGD:11064547
RGD:8554872
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
Coffin-Lowry syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:8554872
RGD:11554173
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:11554173
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
RGD:11554173
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
RGD:11554173
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:8554872
RGD:11554173
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
RGD:11554173
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:11554173
congenital ichthyosiform erythroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link 9 78,521,477 78,693,421 RGD:8554872
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:8554872
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 7 14,435,024 14,514,960 RGD:8554872
G Ebp emopamil binding protein (sterol isomerase) JBrowse link X 15,049,394 15,055,782 RGD:2316868
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601069
G Nipal4 NIPA-like domain containing 4 JBrowse link 10 31,241,394 31,258,105 RGD:8554872
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:2316868
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 20 6,101,061 6,143,762 RGD:8554872
G Tgm1 transglutaminase 1 JBrowse link 15 34,378,136 34,393,150 RGD:8554872
Cornelia de Lange syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt2a lysine methyltransferase 2A JBrowse link 8 49,110,407 49,185,872 RGD:8554872
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:8554872
RGD:11554173
RGD:7240710
G Rad21 RAD21 cohesin complex component JBrowse link 7 91,511,755 91,538,673 RGD:11554173
G RGD1310081 similar to hypothetical protein FLJ13231 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
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:7240710
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 12 19,320,269 19,328,706 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:11085804
RGD:11554173
RGD:8554872
RGD:7240710
RGD:11070051
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
craniofrontonasal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efnb1 ephrin B1 JBrowse link X 68,891,227 68,904,034 RGD:7240710
RGD:11554173
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
cystic fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb1 adrenoceptor beta 1 JBrowse link 1 277,537,585 277,538,985 RGD:5129107
G Adrb2 adrenoceptor beta 2 JBrowse link 18 57,513,792 57,515,834 RGD:5129107
RGD:4145099
G Adrb3 adrenoceptor beta 3 JBrowse link 16 69,003,541 69,006,632 RGD:5129107
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:6767553
RGD:8695959
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:6483578
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:5130162
G Ccl11 C-C motif chemokine ligand 11 JBrowse link 10 69,434,965 69,439,566 RGD:4145455
G Ccl17 C-C motif chemokine ligand 17 JBrowse link 19 10,619,220 10,620,671 RGD:4145491
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:4143275
G Ccl4 C-C motif chemokine ligand 4 JBrowse link 10 70,870,926 70,886,357 RGD:5130907
RGD:5130902
G Ccr3 C-C motif chemokine receptor 3 JBrowse link 8 133,026,539 133,040,999 RGD:4145632
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:4144796
RGD:4144794
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:7248443
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:4140440
RGD:11554173
RGD:8554872
RGD:7240710
RGD:11566051
RGD:4140393
RGD:4140392
RGD:4140438
RGD:4139910
RGD:4140450
RGD:4140422
RGD:4140436
RGD:4140394
RGD:4140429
RGD:4140428
RGD:4140465
RGD:4140435
RGD:4140439
RGD:4140401
RGD:4140464
RGD:4140442
RGD:734772
RGD:4140481
G Clca1 chloride channel accessory 1 JBrowse link 2 250,897,980 250,923,711 RGD:4145657
G Clcn2 chloride voltage-gated channel 2 JBrowse link 11 82,862,664 82,876,165 RGD:704390
G Csf3r colony stimulating factor 3 receptor JBrowse link 5 144,031,353 144,051,966 RGD:5133738
G Cxcl1 C-X-C motif chemokine ligand 1 JBrowse link 14 18,743,678 18,745,457 RGD:5135034
G Cxcl2 C-X-C motif chemokine ligand 2 JBrowse link 14 18,731,346 18,733,391 RGD:5135034
G Cxcl3 chemokine (C-X-C motif) ligand 3 JBrowse link 14 18,820,168 18,839,659 RGD:5135456
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link 14 17,228,832 17,233,743 RGD:5135456
G Cxcr2 C-X-C motif chemokine receptor 2 JBrowse link 9 81,427,275 81,435,065 RGD:5135034
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link X 71,614,346 71,616,997 RGD:4145632
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:4889126
G Dctn4 dynactin subunit 4 JBrowse link 18 55,797,188 55,824,195 RGD:11554173
G Defb4 defensin beta 4 JBrowse link 16 75,634,598 75,637,789 RGD:4892267
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:4145062
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12903971
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:12904024
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:7240710
RGD:8554872
G Gclc glutamate-cysteine ligase, catalytic subunit JBrowse link 8 85,059,051 85,097,471 RGD:5134682
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:12798506
RGD:12792246
RGD:12792207
RGD:10401929
G Gstm3 glutathione S-transferase mu 3 JBrowse link 2 210,685,204 210,688,273 RGD:5135040
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:1331525
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:12792207
RGD:12792246
RGD:10401929
G Havcr2 hepatitis A virus cellular receptor 2 JBrowse link 10 31,561,838 31,590,624 RGD:5135530
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:4145410
G Hspa1a heat shock protein family A (Hsp70) member 1A JBrowse link 20 4,875,834 4,881,751 RGD:6767553
G Hspd1 heat shock protein family D member 1 JBrowse link 9 61,680,529 61,691,202 RGD:12910480
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12904899
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743589
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 RGD:4312589
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:4889105
RGD:4889130
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:4889551
G Il18bp interleukin 18 binding protein JBrowse link 1 167,091,521 167,095,727 RGD:4889551
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:4142849
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:4142844
RGD:4143181
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:4143181
RGD:4143175
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:4143275
RGD:5128672
G Il9 interleukin 9 JBrowse link 17 8,558,827 8,561,950 RGD:5128699
G Il9r interleukin 9 receptor JBrowse link 10 15,697,216 15,708,684 RGD:5128699
G Irf1 interferon regulatory factor 1 JBrowse link 10 39,109,530 39,116,532 RGD:5128720
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:5128819
G Lta lymphotoxin alpha JBrowse link 20 4,851,889 4,854,677 RGD:6767553
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:4889443
RGD:4889447
G Mif macrophage migration inhibitory factor JBrowse link 20 13,715,219 13,732,980 RGD:4891053
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:5130723
RGD:13204794
G Mpo myeloperoxidase JBrowse link 10 75,087,892 75,098,260 RGD:5130986
RGD:5130968
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:5131272
G Muc2 mucin 2, oligomeric mucus/gel-forming JBrowse link 1 214,663,929 214,693,197 RGD:5131426
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming JBrowse link 1 214,725,482 214,756,653 RGD:5131191
G Muc5b mucin 5B, oligomeric mucus/gel-forming JBrowse link 1 214,778,459 214,811,237 RGD:5131194
RGD:5131191
G Muc6 mucin 6, oligomeric mucus/gel-forming JBrowse link 1 214,608,453 214,630,524 RGD:7364748
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:6484688
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:5132627
RGD:5132868
RGD:5132865
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:4891958
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:4892049
G Ppara peroxisome proliferator activated receptor alpha JBrowse link 7 126,618,872 126,687,282 RGD:5683626
G Prss1 protease, serine 1 JBrowse link 4 70,776,046 70,779,249 RGD:1599967
G Ptgdr2 prostaglandin D2 receptor 2 JBrowse link 1 226,976,455 226,995,641 RGD:5135022
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:5135298
RGD:5135523
G RT1-M3-1 RT1 class Ib, locus M3, gene 1 JBrowse link 20 1,814,661 1,833,033 RGD:5144066
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:11554173
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link 1 191,829,547 191,883,991 RGD:11554173
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:11554173
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N JBrowse link 6 128,073,344 128,080,878 RGD:5147439
G Sftpa1 surfactant protein A1 JBrowse link 16 18,716,019 18,719,404 RGD:4143403
G Sftpb surfactant protein B JBrowse link 4 100,166,855 100,175,941 RGD:4143381
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:4143403
G Sftpd surfactant protein D JBrowse link 16 18,753,535 18,766,100 RGD:4143502
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:4145125
RGD:8554872
RGD:7240710
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204794
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:4144179
RGD:4144105
G Tlr5 toll-like receptor 5 JBrowse link 13 101,364,784 101,385,764 RGD:5129499
RGD:5129506
G Tlr9 toll-like receptor 9 JBrowse link 8 114,916,122 114,920,171 RGD:5130208
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:6767553
RGD:4142846
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:11554173
Denys-Drash syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:1643343
G Wt1 Wilms tumor 1 JBrowse link 3 95,133,221 95,180,574 RGD:1580624
RGD:8554872
RGD:7240710
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
G Arvcf ARVCF, delta catenin family member JBrowse link 11 86,736,125 86,793,795 RGD:1578806
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:11554173
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
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 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
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Kat6a lysine acetyltransferase 6A JBrowse link 16 73,942,669 74,020,750 RGD:9590333
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:8554872
G Tbx1 T-box 1 JBrowse link 11 86,552,022 86,561,647 RGD:8554872
RGD:11554173
RGD:7240710
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 JBrowse link 11 86,304,836 86,328,478 RGD:1580803
dilated cardiomyopathy with woolly hair and keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
RGD:11554173
RGD:7240710
Donnai-Barrow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbrd1 LMBR1 domain containing 1 JBrowse link 9 30,939,555 31,038,381 RGD:8554872
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:7240710
RGD:8554872
Donohue syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:8554872
RGD:11554173
RGD:7240710
Down syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arpc4 actin related protein 2/3 complex, subunit 4 JBrowse link 4 145,330,457 145,340,985 RGD:11570562
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:11252150
G Calca calcitonin-related polypeptide alpha JBrowse link 1 184,184,018 184,188,922 RGD:11554173
G Ctss cathepsin S JBrowse link 2 197,655,780 197,679,768 RGD:5686914
G Dbn1 drebrin 1 JBrowse link 17 9,679,511 9,693,878 RGD:10398822
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:5688738
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:13207452
G Fabp3 fatty acid binding protein 3 JBrowse link 5 148,528,854 148,535,597 RGD:1578460
G Fastkd3 FAST kinase domains 3 JBrowse link 1 37,734,400 37,742,932 RGD:8554872
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase JBrowse link 11 31,780,477 31,805,728 RGD:5143983
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:7240710
G Gdi2 GDP dissociation inhibitor 2 JBrowse link 17 70,299,177 70,325,864 RGD:13208830
G Gstm2 glutathione S-transferase mu 2 JBrowse link 2 210,778,041 210,782,807 RGD:11554173
G Hnmt histamine N-methyltransferase JBrowse link 3 905,111 937,038 RGD:5509779
G Hspd1 heat shock protein family D member 1 JBrowse link 9 61,680,529 61,691,202 RGD:10402838
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743600
G Kcnj6 potassium voltage-gated channel subfamily J member 6 JBrowse link 11 35,011,007 35,262,362 RGD:6483052
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204810
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:12910959
RGD:12914150
RGD:12910960
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11565177
RGD:11554173
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:8554872
G Myl7 myosin light chain 7 JBrowse link 14 86,144,770 86,147,075 RGD:1580934
G Napb NSF attachment protein beta JBrowse link 3 143,017,571 143,063,904 RGD:10412652
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:11554173
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:11537399
RGD:11537404
G Prdx2 peroxiredoxin 2 JBrowse link 19 26,084,816 26,090,095 RGD:11554173
G Prdx6 peroxiredoxin 6 JBrowse link 13 79,077,567 79,088,113 RGD:11554173
G Rcan1 regulator of calcineurin 1 JBrowse link 11 32,539,689 32,620,274 RGD:11554173
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:13207521
G Rplp0 ribosomal protein lateral stalk subunit P0 JBrowse link 12 46,791,528 46,794,797 RGD:11039463
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:11554173
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:11554173
G Snap25 synaptosome associated protein 25 JBrowse link 3 129,697,408 129,788,417 RGD:1579958
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655616
RGD:11554173
G Srsf4 serine and arginine rich splicing factor 4 JBrowse link 5 150,032,999 150,060,769 RGD:11039402
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204810
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:12859084
G Vip vasoactive intestinal peptide JBrowse link 1 42,169,307 42,177,582 RGD:5685613
RGD:11554173
Duane-radial ray syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:8554872
dysplastic nevus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:8552302
RGD:8554872
G Stk11 serine/threonine kinase 11 JBrowse link 7 12,440,751 12,457,513 RGD:8554872
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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:11532814
RGD:8554872
RGD:7240710
RGD:1600403
RGD:11568642
RGD:11568640
EEC 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:11568075
RGD:11554173
RGD:11070288
RGD:11568074
RGD:11568639
RGD:11568638
Ellis-Van Creveld syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Evc EvC ciliary complex subunit 1 JBrowse link 14 78,213,601 78,253,266 RGD:1302823
RGD:8554872
RGD:7240710
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:1600212
RGD:8554872
RGD:7240710
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:11073852
epidermodysplasia verruciformis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmc6 transmembrane channel like 6 JBrowse link 10 106,766,857 106,783,004 RGD:7240710
RGD:8554872
G Tmc8 transmembrane channel-like 8 JBrowse link 10 106,784,819 106,795,307 RGD:7240710
RGD:8554872
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:8554872
RGD:7240710
factor VIII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:11041156
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:11041156
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11352263
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:11041156
G Cfp complement factor properdin JBrowse link X 1,311,121 1,316,683 RGD:11041156
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11565076
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:1582357
RGD:11554173
RGD:8554872
RGD:7240710
RGD:10450758
RGD:10450757
RGD:11530071
G F9 coagulation factor IX JBrowse link X 143,097,507 143,141,791 RGD:11554173
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:11040767
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:10755564
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11055683
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049183
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:10449409
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11552591
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:11041784
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11060141
RGD:11060147
RGD:11060256
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11055683
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:11073776
factor XI deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F11 coagulation factor XI JBrowse link 16 50,179,458 50,201,644 RGD:11041741
RGD:8554872
RGD:7240710
RGD:11041742
RGD:1598923
factor XII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:11041805
RGD:8554872
RGD:7240710
RGD:11041772
RGD:1601107
RGD:11041769
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:8554872
familial adenomatous polyposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:11554173
G Apc APC, WNT signaling pathway regulator JBrowse link 18 27,011,710 27,106,323 RGD:2293188
RGD:11554173
RGD:8554872
RGD:7240710
RGD:1331525
G ApcPirc adenomatous polyposis coli RGD:1601201
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 JBrowse link 1 256,382,861 256,386,729 RGD:11554173
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:11554173
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:11554173
G Fmo3 flavin containing monooxygenase 3 JBrowse link 13 80,837,418 80,856,214 RGD:11554173
G Grem1 gremlin 1, DAN family BMP antagonist JBrowse link 3 105,203,309 105,214,989 RGD:11554173
G Hdac2 histone deacetylase 2 JBrowse link 20 43,084,870 43,108,198 RGD:9590246
G Ihh Indian hedgehog JBrowse link 9 82,208,223 82,214,440 RGD:11528847
G Itih4 inter-alpha-trypsin inhibitor heavy chain family, member 4 JBrowse link 16 6,970,367 6,985,538 RGD:11554173
G Lrg1 leucine-rich alpha-2-glycoprotein 1 JBrowse link 9 10,952,424 10,954,664 RGD:11554173
G Mcc mutated in colorectal cancers JBrowse link 18
1
35,683,185
12,006,663
35,817,117
12,128,849
RGD:11554173
G Msh3 mutS homolog 3 JBrowse link 2 21,790,048 21,931,791 RGD:11554173
G Mutyh mutY DNA glycosylase JBrowse link 5 135,663,328 135,675,348 RGD:1600191
RGD:11554173
RGD:8554872
G Nthl1 nth-like DNA glycosylase 1 JBrowse link 10 13,996,660 14,002,827 RGD:11554173
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:11554173
G Reep5 receptor accessory protein 5 JBrowse link 18 27,128,462 27,159,693 RGD:8554872
G Scg5 secretogranin V JBrowse link 3 105,235,065 105,279,475 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Srp19 signal recognition particle 19 JBrowse link 18 27,114,822 27,121,062 RGD:8554872
G Toe1 target of EGR1, exonuclease JBrowse link 5 135,659,733 135,663,299 RGD:8554872
G Zrsr1 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 1 JBrowse link 14 107,750,162 107,751,895 RGD:8554872
Feingold syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mycn MYCN proto-oncogene, bHLH transcription factor JBrowse link 6 38,222,554 38,228,419 RGD:7240710
RGD:11554173
RGD:8554872
FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:11576290
RGD:8554872
RGD:7240710
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:11554173
RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:11554173
RGD:12910948
RGD:12910952
RGD:8554872
fibular hypoplasia and complex brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:12437084
RGD:8554872
RGD:7240710
focal dermal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:7240710
G Porcn porcupine O-acyltransferase JBrowse link X 15,035,569 15,048,440 RGD:7240710
RGD:11554173
RGD:8554872
fragile X syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgb androglobin JBrowse link 1 4,445,039 4,588,507 RGD:8554872
G Aff2 AF4/FMR2 family, member 2 JBrowse link X 153,539,951 154,051,022 RGD:7240710
RGD:8554872
G App amyloid beta precursor protein JBrowse link 11 24,425,013 24,641,872 RGD:11554173
G Cyfip1 cytoplasmic FMR1 interacting protein 1 JBrowse link 1 114,258,773 114,347,138 RGD:11558008
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:10401097
G Fmr1 fragile X mental retardation 1 JBrowse link X 154,684,924 154,722,369 RGD:1601178
RGD:11554173
RGD:8554872
RGD:7240710
RGD:11566028
RGD:11566052
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:8554872
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:11572344
RGD:13204755
G Nrxn3 neurexin 3 JBrowse link 6 112,133,204 114,069,589 RGD:11554325
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:7240710
G Rab32 RAB32, member RAS oncogene family JBrowse link 1 4,638,663 4,653,220 RGD:8554872
G Serpina1 serpin family A member 1 JBrowse link 6 127,610,241 127,632,265 RGD:8554872
Fraser syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:1598960
RGD:11554173
RGD:8554872
RGD:7240710
G Frem2 Fras1 related extracellular matrix protein 2 JBrowse link 2 142,747,501 142,885,604 RGD:7240710
RGD:11554173
RGD:8554872
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:7240710
RGD:8554872
Frasier syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wt1 Wilms tumor 1 JBrowse link 3 95,133,221 95,180,574 RGD:8554872
RGD:7240710
Galloway-Mowat syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:11554173
G Osgep O-sialoglycoprotein endopeptidase JBrowse link 15 27,842,447 27,849,866 RGD:11554173
G Tp53rk TP53 regulating kinase JBrowse link 3 163,552,166 163,555,925 RGD:11554173
G Tprkb Tp53rk binding protein JBrowse link 4 117,589,527 117,604,481 RGD:11554173
G Wdr73 WD repeat domain 73 JBrowse link 1 142,711,955 142,720,292 RGD:8554872
RGD:11554173
RGD:7240710
G Zfp592 zinc finger protein 592 JBrowse link 1 142,833,999 142,870,997 RGD:8554872
RGD:11554173
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:8554872
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo5a myosin VA JBrowse link 8 82,038,966 82,156,507 RGD:7240710
RGD:8554872
Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:8554872
RGD:7240710
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlph melanophilin JBrowse link 9 98,072,965 98,108,429 RGD:7240710