ONTOLOGY REPORT - ANNOTATIONS


Term:Otorhinolaryngologic Diseases
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Accession:RDO:0005222 term browser browse the term
Definition:Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.
Synonyms:exact_synonym: ENT Disease;   ENT Diseases;   Otolaryngologic Disease;   Otolaryngologic Diseases;   Otolaryngological Disease;   Otolaryngological Diseases;   Otorhinolaryngologic Disease;   Otorhinolaryngological Disease;   Otorhinolaryngological Diseases
 primary_id: MESH:D010038


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3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serac1 serine active site containing 1 JBrowse link 1 46,934,499 46,978,264 RGD:7240710
RGD:8554872
Abruzzo Erickson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx22 T-box 22 JBrowse link X 78,731,738 78,782,542 RGD:7240710
RGD:8554872
Achalasia Addisonianism Alacrimia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aaas aladin WD repeat nucleoporin JBrowse link 7 143,937,198 143,956,668 RGD:7240710
RGD:8554872
RGD:11554173
Alacrima, Achalasia, and Mental Retardation Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppa GDP-mannose pyrophosphorylase A JBrowse link 9 82,632,267 82,639,811 RGD:7240710
RGD:8554872
Albinism Ocular Late Onset Sensorineural Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanogenesis associated transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:7240710
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:7240710
Alport Syndrome, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:7240710
RGD:8554872
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:8554872
Apraxia, Oculomotor, Cogan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 9 119,675,750 119,818,620 RGD:11554173
RGD:8554872
Arts Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:12910562
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
Asthma and Nasal Polyps term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx21 T-box 21 JBrowse link 10 85,032,799 85,049,331 RGD:8554872
Asthma, Nasal Polyps, and Aspirin Intolerance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptger2 prostaglandin E receptor 2 JBrowse link 15 19,336,029 19,349,759 RGD:7240710
G Tbx21 T-box 21 JBrowse link 10 85,032,799 85,049,331 RGD:7240710
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 JBrowse link 15 104,186,918 104,226,236 RGD:7240710
RGD:8554872
Athabaskan Brainstem Dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa1 homeobox A1 JBrowse link 4 82,124,358 82,127,182 RGD:8554872
RGD:7240710
RGD:11553818
RGD:11554173
G Hoxa2 homeobox A2 JBrowse link 4 82,130,441 82,134,846 RGD:8554872
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdxr ferredoxin reductase JBrowse link 10 103,817,724 103,826,413 RGD:8554872
Auditory Neuropathy, Autosomal Dominant, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph3 diaphanous-related formin 3 JBrowse link 15 69,928,507 70,400,077 RGD:7240710
RGD:8554872
Auditory Perceptual Disorders 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:11554173
G Vsx1 visual system homeobox 1 JBrowse link 3 146,484,235 146,494,757 RGD:11554173
Auriculo-condylar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:11554173
G Gnai3 G protein subunit alpha i3 JBrowse link 2 210,896,779 210,934,733 RGD:7240710
RGD:8554872
G Plcb4 phospholipase C, beta 4 JBrowse link 3 128,601,163 128,971,720 RGD:8554872
RGD:11554173
Auriculocondylar Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcb4 phospholipase C, beta 4 JBrowse link 3 128,601,163 128,971,720 RGD:7240710
RGD:8554872
Auriculocondylar Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crym crystallin, mu JBrowse link 1 189,944,895 189,960,069 RGD:8554872
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:7240710
RGD:8554872
Ayme-Gripp Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
RGD:7240710
Barakat Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata3 GATA binding protein 3 JBrowse link 17 72,419,752 72,452,043 RGD:7240710
RGD:8554872
RGD:11554173
Bartter Syndrome, Type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bsnd barttin CLCNK type accessory beta subunit JBrowse link 5 126,071,849 126,080,647 RGD:7240710
RGD:8554872
Bartter Syndrome, Type 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcnka chloride voltage-gated channel Ka JBrowse link 5 159,931,497 159,946,483 RGD:8554872
RGD:7240710
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:7240710
Behr Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
RGD:11554173
Bifid Nose term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:11554173
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:7240710
RGD:8554872
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:7240710
RGD:8554872
Brown-Vialetto-Van Laere Syndrome 2 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:7240710
RGD:8554872
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nbn nibrin JBrowse link 5 29,622,347 29,656,877 RGD:8554872
G Ttc7a tetratricopeptide repeat domain 7A JBrowse link 6 10,912,383 11,014,279 RGD:8554872
G Txnl4a thioredoxin-like 4A JBrowse link 18 76,725,221 76,740,673 RGD:8554872
RGD:7240710
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:8554872
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:8554872
RGD:7240710
RGD:11576280
Cardiomyopathy, Dilated, 1J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 23,237,617 23,611,580 RGD:7240710
RGD:8554872
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:7240710
RGD:8554872
CATSHL Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
Cerebellar Ataxia, Deafness, and Narcolepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth Disease and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
Charcot-Marie-Tooth Disease, Demyelinating, Type 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth Disease, Type 2J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chm CHM, Rab escort protein 1 JBrowse link X 84,666,900 84,821,775 RGD:7240710
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth Disease, Type 4A, Axonal Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:7240710
RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:8554872
RGD:11554173
Choanal Atresia and Lymphedema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 JBrowse link 13 108,689,916 108,841,593 RGD:7240710
RGD:8554872
Cholesteatoma, Middle Ear term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:8661795
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:8547968
G Hif1a hypoxia inducible factor 1 alpha subunit JBrowse link 6 96,810,868 96,856,303 RGD:8694474
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8547586
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:7794712
RGD:11059515
G Il1r1 interleukin 1 receptor type 1 JBrowse link 9 46,962,291 47,038,139 RGD:8662931
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8662931
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829727
RGD:7364848
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7794712
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8547870
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547870
G Rela RELA proto-oncogene, NF-kB subunit JBrowse link 1 220,992,770 221,003,249 RGD:8552995
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:8552995
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:8552995
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7364848
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8547787
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8547968
Chronic Rhinitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:8661738
Chronic Rhinosinusitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:8696039
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:8549791
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:8693716
Chudley-Mccullough syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpsm2 G-protein signaling modulator 2 JBrowse link 2 211,480,120 211,528,096 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11062393
Ciliary Dyskinesia, Primary, 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
RGD:11554173
Ciliary Dyskinesia, Primary, 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rsph4a radial spoke head 4 homolog A JBrowse link 20 32,450,701 32,467,362 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rsph9 radial spoke head 9 homolog JBrowse link 9 17,224,589 17,245,093 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf1 dynein, axonemal, assembly factor 1 JBrowse link 19 52,217,427 52,245,930 RGD:8554872
RGD:11554173
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C JBrowse link 19 52,246,061 52,252,642 RGD:8554872
Ciliary Dyskinesia, Primary, 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf5 dynein, axonemal, assembly factor 5 JBrowse link 12 17,545,468 17,584,466 RGD:8554872
RGD:11554173
CILIARY DYSKINESIA, PRIMARY, 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc114 coiled-coil domain containing 114 JBrowse link 1 101,904,042 101,932,999 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zmynd10 zinc finger, MYND-type containing 10 JBrowse link 8 116,302,513 116,306,871 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Armc4 armadillo repeat containing 4 JBrowse link 17 60,283,926 60,474,289 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rsph1 radial spoke head 1 homolog JBrowse link 20 9,998,698 10,020,719 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1306954 similar to RIKEN cDNA 1110004E09 JBrowse link 11 31,094,103 31,103,487 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc65 coiled-coil domain containing 65 JBrowse link 7 140,383,395 140,397,186 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr2k RNA polymerase II subunit K JBrowse link 7 74,939,010 74,992,594 RGD:8554872
G Spag1 sperm associated antigen 1 JBrowse link 7 74,994,379 75,054,294 RGD:7240710
RGD:8554872
CILIARY DYSKINESIA, PRIMARY, 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccno cyclin O JBrowse link 2 44,857,043 44,860,317 RGD:7240710
RGD:8554872
CILIARY DYSKINESIA, PRIMARY, 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc151 coiled-coil domain containing 151 JBrowse link 8 23,000,912 23,014,707 RGD:8554872
RGD:7240710
CILIARY DYSKINESIA, PRIMARY, 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rsph3 radial spoke head 3 homolog JBrowse link 1 47,412,151 47,478,924 RGD:8554872
RGD:7240710
Ciliary Dyskinesia, Primary, 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gas8 growth arrest specific 8 JBrowse link 19 56,316,367 56,335,873 RGD:8554872
RGD:11554173
CILIARY DYSKINESIA, PRIMARY, 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 JBrowse link 1 165,515,718 165,530,163 RGD:8554872
RGD:11554173
CILIARY DYSKINESIA, PRIMARY, 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc25 tetratricopeptide repeat domain 25 JBrowse link 10 88,459,490 88,488,237 RGD:8554872
RGD:11554173
CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pih1d3 PIH1 domain containing 3 JBrowse link X 111,389,557 111,439,399 RGD:8554872
RGD:11554173
Ciliary Dyskinesia, Primary, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hydin Hydin, axonemal central pair apparatus protein JBrowse link 19 41,036,507 41,379,634 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nme8 NME/NM23 family member 8 JBrowse link 17 47,300,932 47,368,543 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdca7l cell division cycle associated 7 like JBrowse link 6 145,739,570 145,785,607 RGD:8554872
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:7240710
RGD:8554872
Ciliary Dyskinesia, Primary, 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnai2 dynein, axonemal, intermediate chain 2 JBrowse link 10 103,266,343 103,301,521 RGD:7240710
RGD:8554872
Ciliary Motility Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnah1 dynein, axonemal, heavy chain 1 JBrowse link 16 7,345,131 7,407,009 RGD:8554872
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:11554173
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:11554173
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:1599600
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11554173
Cochlear Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpv17 MpV17 mitochondrial inner membrane protein JBrowse link 6 26,585,713 26,600,265 RGD:11554173
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:11554173
G Slc17a8 solute carrier family 17 member 8 JBrowse link 7 30,215,231 30,274,993 RGD:9999192
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanogenesis associated transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:11554173
RGD:8554872
Coloboma, uveal, with cleft lip and palate and mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yap1 yes-associated protein 1 JBrowse link 8 6,133,014 6,204,240 RGD:7240710
RGD:8554872
CONE-ROD DYSTROPHY AND HEARING LOSS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep78 centrosomal protein 78 JBrowse link 1 233,185,815 233,214,876 RGD:8554872
RGD:11554173
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc33a1 solute carrier family 33 member 1 JBrowse link 2 154,520,170 154,542,981 RGD:7240710
RGD:8554872
Congenital Microtia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa2 homeobox A2 JBrowse link 4 82,130,441 82,134,846 RGD:11553827
G Plxna3 plexin A3 JBrowse link X 156,363,400 156,379,433 RGD:8554872
Corneal dystrophy and perceptive deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a11 solute carrier family 4 member 11 JBrowse link 3 123,224,242 123,236,535 RGD:7240710
RGD:8554872
Corneal Dystrophy, Epithelial Basement Membrane term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
Cowchock Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:7240710
RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
Craniofacial deafness hand syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:7240710
RGD:8554872
RGD:11554173
CREST Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:12910471
Cutaneous Telangiectasia and Cancer Syndrome, Familial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link 8 103,673,578 103,770,886 RGD:7240710
RGD:8554872
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link 7 74,118,834 74,722,341 RGD:8554872
D-BIFUNCTIONAL PROTEIN DEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:1599968
RGD:10411884
RGD:7240710
Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak2 adenylate kinase 2 JBrowse link 5 147,185,474 147,204,050 RGD:11554173
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:734598
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8639313
RGD:11554173
RGD:8655576
G Cacna1d calcium voltage-gated channel subunit alpha1 D JBrowse link 16 6,110,294 6,405,022 RGD:1300292
RGD:11554173
G Cldn14 claudin 14 JBrowse link 11 34,132,581 34,142,813 RGD:1600866
RGD:11554173
G Coch cochlin JBrowse link 6 72,359,702 72,373,710 RGD:1600878
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Crym crystallin, mu JBrowse link 1 189,944,895 189,960,069 RGD:734836
G Eps8 epidermal growth factor receptor pathway substrate 8 JBrowse link 4 171,475,155 171,645,620 RGD:8554872
G Espn espin JBrowse link 5 169,293,356 169,331,338 RGD:734943
RGD:11554173
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:8553051
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:7364894
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7364799
RGD:8554872
RGD:11554173
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:11554173
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8549497
G Jag1 jagged 1 JBrowse link 3 130,079,361 130,114,781 RGD:11554173
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:8662867
G Kcnk1 potassium two pore domain channel subfamily K member 1 JBrowse link 19 58,823,836 58,862,926 RGD:2316516
G Kcnk10 potassium two pore domain channel subfamily K member 10 JBrowse link 6 122,417,079 122,549,532 RGD:2316516
G Kcnk3 potassium two pore domain channel subfamily K member 3 JBrowse link 6 27,154,274 27,190,209 RGD:2316516
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:1581602
G Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto RGD:1581602
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Mitf melanogenesis associated transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:11554173
RGD:8554872
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:4892285
RGD:1581470
RGD:8694136
G Otof otoferlin JBrowse link 6 27,328,343 27,424,864 RGD:9491387
RGD:11554173
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:11554173
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:11554173
G Pjvk pejvakin JBrowse link 3 63,508,386 63,518,163 RGD:11554173
G Pogz pogo transposable element derived with ZNF domain JBrowse link 2 195,995,322 196,041,500 RGD:8554872
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 100,538,066 100,554,105 RGD:11554173
G Pou3f4 POU class 3 homeobox 4 JBrowse link X 82,143,789 82,145,066 RGD:1599156
RGD:1599155
G Pou4f3 POU class 4 homeobox 3 JBrowse link 18 36,713,869 36,716,461 RGD:1599168
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:2324943
G Serac1 serine active site containing 1 JBrowse link 1 46,934,499 46,978,264 RGD:11554173
G Slc19a2 solute carrier family 19 member 2 JBrowse link 13 82,552,586 82,566,586 RGD:1599325
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:11062194
RGD:7411670
RGD:7411562
RGD:7411559
RGD:1599215
RGD:1599217
G Slc26a5 solute carrier family 26 member 5 JBrowse link 4 9,795,811 9,860,904 RGD:11554173
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:11554173
G Triobp TRIO and F-actin binding protein JBrowse link 7 120,173,892 120,237,145 RGD:8554872
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:1599547
DEAFNESS AND MYOPIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slitrk6 SLIT and NTRK-like family, member 6 JBrowse link 15 95,507,632 95,514,259 RGD:7240710
RGD:8554872
Deafness Enamel Hypoplasia Nail Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gatad1 GATA zinc finger domain containing 1 JBrowse link 4 27,647,005 27,658,533 RGD:8554872
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:8554872
RGD:7240710
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:11554173
Deafness, Aminoglycoside-Induced term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-co1 mitochondrially encoded cytochrome c oxidase 1 JBrowse link MT 5,323 6,867 RGD:8554872
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase JBrowse link 7 126,756,140 126,772,749 RGD:7240710
RGD:8554872
G Trnt1 tRNA nucleotidyl transferase 1 JBrowse link 4 138,855,497 138,869,217 RGD:7240710
Deafness, Autosomal Dominant 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph1 diaphanous-related formin 1 JBrowse link 18 30,972,907 31,071,371 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 23,237,617 23,611,580 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tecta tectorin alpha JBrowse link 8 46,603,728 46,675,658 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pou4f3 POU class 4 homeobox 3 JBrowse link 18 36,713,869 36,716,461 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gcdh glutaryl-CoA dehydrogenase JBrowse link 19 26,000,497 26,006,970 RGD:8554872
G Nphs2 NPHS2, podocin JBrowse link 13 73,929,136 73,941,522 RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:8554872
G Strc stereocilin JBrowse link 3 113,324,403 113,343,513 RGD:8554872
Deafness, Autosomal Dominant 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc17a8 solute carrier family 17 member 8 JBrowse link 7 30,215,231 30,274,993 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhl2 grainyhead-like transcription factor 2 JBrowse link 7 76,058,623 76,197,360 RGD:1599382
RGD:8554872
RGD:7240710
Deafness, Autosomal Dominant 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 5 139,625,783 139,677,300 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmc1 transmembrane channel-like 1 JBrowse link 1 238,336,919 238,525,792 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dspp dentin sialophosphoprotein JBrowse link 14 6,926,972 6,933,079 RGD:7240710
RGD:12910984
RGD:8554872
Deafness, Autosomal Dominant 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh14 myosin heavy chain 14 JBrowse link 1 100,608,975 100,671,086 RGD:8554872
DEAFNESS, AUTOSOMAL DOMINANT 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crym crystallin, mu JBrowse link 1 189,944,895 189,960,069 RGD:8554872
RGD:7240710
Deafness, Autosomal Dominant 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P2rx2 purinergic receptor P2X 2 JBrowse link 12 52,397,666 52,401,005 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc50 coiled-coil domain containing 50 JBrowse link 11 76,742,179 76,804,695 RGD:7240710
RGD:9685138
RGD:8554872
Deafness, Autosomal Dominant 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo1a myosin IA JBrowse link 7 71,000,299 71,019,386 RGD:8554872
RGD:11554173
Deafness, Autosomal Dominant 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh14 myosin heavy chain 14 JBrowse link 1 100,608,975 100,671,086 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ceacam16 carcinoembryonic antigen-related cell adhesion molecule 16 JBrowse link 1 80,773,819 80,783,898 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsdme gasdermin E JBrowse link 4 79,934,075 79,999,678 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir96 microRNA 96 JBrowse link 4 57,463,366 57,463,471 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fxn frataxin JBrowse link 1 242,123,975 242,152,834 RGD:8554872
G Tjp2 tight junction protein 2 JBrowse link 1 241,945,816 242,084,044 RGD:8554872
Deafness, Autosomal Dominant 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pou4f3 POU class 4 homeobox 3 JBrowse link 18 36,713,869 36,716,461 RGD:7240710
Deafness, Autosomal Dominant 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnc tenascin C JBrowse link 5 79,789,686 79,874,555 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant 64 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diablo diablo, IAP-binding mitochondrial protein JBrowse link 12 38,490,230 38,503,344 RGD:7240710
RGD:8554872
DEAFNESS, AUTOSOMAL DOMINANT 66 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd164 CD164 molecule JBrowse link 20 46,250,418 46,261,994 RGD:8554872
RGD:11554173
DEAFNESS, AUTOSOMAL DOMINANT 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Osbpl2 oxysterol binding protein-like 2 JBrowse link 3 175,493,650 175,538,965 RGD:8554872
RGD:7240710
Deafness, Autosomal Dominant 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Homer2 homer scaffolding protein 2 JBrowse link 1 143,443,300 143,535,579 RGD:7240710
RGD:8554872
DEAFNESS, AUTOSOMAL DOMINANT 69 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kitlg KIT ligand JBrowse link 7 42,269,784 42,351,054 RGD:7240710
RGD:8554872
DEAFNESS, AUTOSOMAL DOMINANT 70 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm2 minichromosome maintenance complex component 2 JBrowse link 4 120,825,699 120,840,221 RGD:8554872
RGD:11554173
DEAFNESS, AUTOSOMAL DOMINANT 71 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmxl2 Dmx-like 2 JBrowse link 8 58,932,575 59,077,788 RGD:8554872
DEAFNESS, AUTOSOMAL DOMINANT 72 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc44a4 solute carrier family 44, member 4 JBrowse link 20 4,593,389 4,609,641 RGD:8554872
DEAFNESS, AUTOSOMAL DOMINANT 73 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptprq protein tyrosine phosphatase, receptor type, Q JBrowse link 7 49,763,657 50,034,932 RGD:8554872
Deafness, Autosomal Dominant 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coch cochlin JBrowse link 6 72,359,702 72,373,710 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:7240710
RGD:8554872
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:8554872
Deafness, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8662281
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:8554872
G Otof otoferlin JBrowse link 6 27,328,343 27,424,864 RGD:9479154
RGD:8554872
Deafness, Autosomal Recessive 101 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 JBrowse link 18 36,308,925 36,334,643 RGD:8554872
RGD:7240710
DEAFNESS, AUTOSOMAL RECESSIVE 102 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eps8 epidermal growth factor receptor pathway substrate 8 JBrowse link 4 171,475,155 171,645,620 RGD:8554872
RGD:7240710
DEAFNESS, AUTOSOMAL RECESSIVE 103 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clic5 chloride intracellular channel 5 JBrowse link 9 19,121,676 19,372,673 RGD:8554872
RGD:7240710
DEAFNESS, AUTOSOMAL RECESSIVE 104 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ripor2 RHO family interacting cell polarization regulator 2 JBrowse link 17 42,324,594 42,549,907 RGD:8554872
RGD:7240710
DEAFNESS, AUTOSOMAL RECESSIVE 105 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc14a cell division cycle 14A JBrowse link 2 219,302,577 219,458,345 RGD:8554872
RGD:11554173
DEAFNESS, AUTOSOMAL RECESSIVE 106 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eps8l2 EPS8-like 2 JBrowse link 1 214,327,992 214,353,466 RGD:8554872
DEAFNESS, AUTOSOMAL RECESSIVE 107 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wbp2 WW domain binding protein 2 JBrowse link 10 104,629,563 104,637,906 RGD:8554872
DEAFNESS, AUTOSOMAL RECESSIVE 108 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ror1 receptor tyrosine kinase-like orphan receptor 1 JBrowse link 5 118,892,874 119,239,528 RGD:8554872
Deafness, Autosomal Recessive 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 JBrowse link 4 145,704,779 145,948,997 RGD:7240710
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:7240710
RGD:8554872
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:8554872
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
Deafness, Autosomal Recessive 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gipc3 GIPC PDZ domain containing family, member 3 JBrowse link 7 11,245,160 11,253,080 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Strc stereocilin JBrowse link 3 113,324,403 113,343,513 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8554872
Deafness, Autosomal Recessive 18A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:7240710
RGD:8554872
RGD:8694458
Deafness, Autosomal Recessive 18B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otog otogelin JBrowse link 1 102,258,124 102,327,201 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryl1 crystallin, lambda 1 JBrowse link 15 37,543,727 37,663,586 RGD:8554872
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:7240710
RGD:8554872
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 1b 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:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:7240710
RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:8554872
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:8554872
Deafness, Autosomal Recessive 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tecta tectorin alpha JBrowse link 8 46,603,728 46,675,658 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otoa otoancorin JBrowse link 1 191,029,861 191,097,524 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 JBrowse link 14 41,663,688 41,787,331 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Triobp TRIO and F-actin binding protein JBrowse link 7 120,173,892 120,237,145 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn14 claudin 14 JBrowse link 11 34,132,581 34,142,813 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ceacam16 carcinoembryonic antigen-related cell adhesion molecule 16 JBrowse link 1 80,773,819 80,783,898 RGD:8554872
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:7240710
RGD:8554872
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:8554872
Deafness, Autosomal Recessive 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo3a myosin IIIA JBrowse link 17 88,952,635 89,167,538 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esrrb estrogen-related receptor beta JBrowse link 6 110,360,940 110,458,406 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 36, with or without Vestibular Involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Espn espin JBrowse link 5 169,293,356 169,331,338 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 36, without Vestibular Involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Espn espin JBrowse link 5 169,293,356 169,331,338 RGD:8554872
Deafness, Autosomal Recessive 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:7240710
RGD:8554872
RGD:8548545
Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxi1 forkhead box I1 JBrowse link 10 19,160,566 19,164,505 RGD:7240710
RGD:8554872
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:7240710
RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:7240710
RGD:8554872
RGD:7421508
RGD:7411671
RGD:7411556
RGD:7411543
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:8554872
Deafness, Autosomal Recessive 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ildr1 immunoglobulin-like domain containing receptor 1 JBrowse link 11 67,004,042 67,037,115 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy1 adenylate cyclase 1 JBrowse link 14 87,311,970 87,429,880 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cib2 calcium and integrin binding family member 2 JBrowse link 8 59,123,078 59,139,946 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Marveld2 MARVEL domain containing 2 JBrowse link 2 30,612,746 30,634,308 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 59 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pjvk pejvakin JBrowse link 3 63,508,386 63,518,163 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmie transmembrane inner ear JBrowse link 8 119,142,116 119,157,071 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a5 solute carrier family 26 member 5 JBrowse link 4 9,795,811 9,860,904 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 63 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing JBrowse link 1 166,985,468 166,989,681 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 66 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcdc2 doublecortin domain containing 2 JBrowse link 17 41,838,201 42,031,265 RGD:7240710
RGD:10412291
RGD:8554872
Deafness, Autosomal Recessive 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lhfpl5 LHFPL tetraspan subfamily member 5 JBrowse link 20 5,815,837 5,826,137 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G S1pr2 sphingosine-1-phosphate receptor 2 JBrowse link 8 21,984,914 21,995,806 RGD:8554872
RGD:11554173
Deafness, Autosomal Recessive 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphs2 NPHS2, podocin JBrowse link 13 73,929,136 73,941,522 RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:8554872
G Tmc1 transmembrane channel-like 1 JBrowse link 1 238,336,919 238,525,792 RGD:7240710
RGD:8554872
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:8554872
Deafness, Autosomal Recessive 70 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 JBrowse link 14 113,530,470 113,561,645 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 74 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msrb3 methionine sulfoxide reductase B3 JBrowse link 7 62,850,506 62,972,487 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 76 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syne4 spectrin repeat containing nuclear envelope family member 4 JBrowse link 1 88,772,729 88,777,044 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 77 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ceacam16 carcinoembryonic antigen-related cell adhesion molecule 16 JBrowse link 1 80,773,819 80,783,898 RGD:8554872
G Loxhd1 lipoxygenase homology domains 1 JBrowse link 18 73,645,365 73,812,271 RGD:7240710
RGD:8554872
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:8554872
Deafness, Autosomal Recessive 79 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tprn taperin JBrowse link 3 2,480,232 2,487,710 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmprss3 transmembrane protease, serine 3 JBrowse link 20 9,910,522 9,929,705 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 84A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptprq protein tyrosine phosphatase, receptor type, Q JBrowse link 7 49,763,657 50,034,932 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 84B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otogl otogelin-like JBrowse link 7 51,768,469 51,935,442 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 86 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 88 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elmod3 ELMO domain containing 3 JBrowse link 4 100,422,256 100,465,152 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 89 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kars lysyl-tRNA synthetase JBrowse link 19 44,212,205 44,231,209 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chek2 checkpoint kinase 2 JBrowse link 12 51,845,574 51,878,098 RGD:8554872
G Jag1 jagged 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:8554872
G Otof otoferlin JBrowse link 6 27,328,343 27,424,864 RGD:7240710
RGD:8554872
RGD:9585724
RGD:9491826
RGD:9491386
RGD:9479161
RGD:9479157
RGD:737640
RGD:9479156
RGD:9479153
G Rai1 retinoic acid induced 1 JBrowse link 10 46,511,271 46,571,591 RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:8554872
G Stk11 serine/threonine kinase 11 JBrowse link 7 12,440,751 12,457,513 RGD:8554872
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:8554872
Deafness, Autosomal Recessive 91 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinb6a serpin family B member 6A JBrowse link 17 32,154,747 32,209,598 RGD:8554872
RGD:7240710
Deafness, Autosomal Recessive 93 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cabp2 calcium binding protein 2 JBrowse link 1 219,329,186 219,335,046 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 97 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive 98 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tspear thrombospondin-type laminin G domain and EAR repeats JBrowse link 20 11,501,510 11,529,210 RGD:7240710
RGD:8554872
Deafness, Autosomal Recessive, 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rdx radixin JBrowse link 8 56,570,728 56,612,851 RGD:7240710
RGD:8554872
Deafness, Cochlear, with Myopia and Intellectual Impairment term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slitrk6 SLIT and NTRK-like family, member 6 JBrowse link 15 95,507,632 95,514,259 RGD:8554872
Deafness, Congenital Heart Defects, and Posterior Embryotoxon term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jag1 jagged 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 JBrowse link 16 22,326,537 22,350,143 RGD:8554872
RGD:11554173
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf3 fibroblast growth factor 3 JBrowse link 1 218,003,018 218,006,942 RGD:7240710
RGD:8554872
Deafness, High-Frequency Sensorineural, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:8554872
Deafness, Sensorineural, And Male Infertility term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Catsper2 cation channel, sperm associated 2 JBrowse link 3 113,357,361 113,379,498 RGD:8554872
RGD:11554173
G Strc stereocilin JBrowse link 3 113,324,403 113,343,513 RGD:11554173
Deafness, Sensorineural, Autosomal-Mitochondrial Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-co1 mitochondrially encoded cytochrome c oxidase 1 JBrowse link MT 5,323 6,867 RGD:8554872
RGD:11554173
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:8554872
Deafness, Sensorineural, with Hypertrophic Cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:8554872
Deafness, Unilateral, with Delayed Endolymphatic Hydrops term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:11556245
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:8554872
Deafness, X-Linked 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:11061884
RGD:8554872
Deafness, X-Linked 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smpx small muscle protein, X-linked JBrowse link X 40,029,200 40,086,870 RGD:7240710
RGD:8554872
Deafness, X-Linked 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
RGD:7240710
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
Deafness, X-Linked 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:7240710
RGD:8554872
Deglutition Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Megf10 multiple EGF-like domains 10 JBrowse link 18 52,215,652 52,366,212 RGD:11554173
G Tsen2 tRNA splicing endonuclease subunit 2 JBrowse link 4 147,455,506 147,490,869 RGD:11554173
G Tsen34 tRNA splicing endonuclease subunit 34 JBrowse link 1 64,023,924 64,031,756 RGD:11554173
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:11554173
G Uchl1 ubiquitin C-terminal hydrolase L1 JBrowse link 14 43,133,224 43,143,942 RGD:1302546
G Uchl3 ubiquitin C-terminal hydrolase L3 JBrowse link 15 86,153,624 86,198,127 RGD:1302546
Dementia, Familial Danish term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itm2b integral membrane protein 2B JBrowse link 15 55,254,703 55,277,713 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia with Microtia and Cleft Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100361854 ribosomal protein S26-like JBrowse link X 115,495,660 115,496,062 RGD:8554872
G Rps28 ribosomal protein S28 JBrowse link 7 18,682,071 18,683,440 RGD:8554872
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
Digitorenocerebral Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:8554872
G Stk11 serine/threonine kinase 11 JBrowse link 7 12,440,751 12,457,513 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:7240710
RGD:8554872
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
Dystonia musculorum deformans 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb4a tubulin, beta 4A class IVa JBrowse link 9 9,961,020 9,968,420 RGD:7240710
RGD:8554872
Ear Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:11554173
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp14 FK506 binding protein 14 JBrowse link 4 84,753,628 84,768,314 RGD:7240710
RGD:8554872
Epilepsy, Hearing Loss, and Mental Retardation Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spata5 spermatogenesis associated 5 JBrowse link 2 124,149,872 124,341,138 RGD:7240710
RGD:8554872
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
Epistaxis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:8554872
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:11041563
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:7794809
Esophageal Achalasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aaas aladin WD repeat nucleoporin JBrowse link 7 143,937,198 143,956,668 RGD:1598514
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147806
RGD:11554173
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147806
RGD:11554173
G Vipr1 vasoactive intestinal peptide receptor 1 JBrowse link 8 130,283,453 130,313,431 RGD:5685626
Ethmoid Sinusitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccl7 C-C motif chemokine ligand 7 JBrowse link 10 69,423,083 69,424,933 RGD:6483785
EVEN-PLUS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspa9 heat shock protein family A member 9 JBrowse link 18 27,731,072 27,749,235 RGD:8554872
RGD:11554173
Forney Robinson Pascoe Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map3k7 mitogen activated protein kinase kinase kinase 7 JBrowse link 5 47,183,142 47,244,424 RGD:8554872
Gastroesophageal Reflux term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abat 4-aminobutyrate aminotransferase JBrowse link 10 7,093,406 7,200,439 RGD:11554173
G Ccl26 C-C motif chemokine ligand 26 JBrowse link 12 24,157,182 24,161,870 RGD:11081162
G Pla2g2a phospholipase A2 group IIA JBrowse link 5 157,282,650 157,285,295 RGD:6482726
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:11554173
G Tac1 tachykinin, precursor 1 JBrowse link 4 33,638,853 33,646,819 RGD:11554173
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:7240539
Gonadal Dysgenesis XX Type Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:7240710
RGD:8554872
RGD:11554173
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
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:7240710
RGD:8554872
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
RGD:8554872
G Myo5a myosin VA JBrowse link 8 82,038,966 82,156,507 RGD:8554872
Hearing Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:11554173
G Srrm4 serine/arginine repetitive matrix 4 JBrowse link 12 45,726,192 45,884,644 RGD:11554173
G Ttpa alpha tocopherol transfer protein JBrowse link 5 34,007,926 34,029,315 RGD:11554173
Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anapc15 anaphase promoting complex subunit 15 JBrowse link 1 166,981,738 166,985,363 RGD:8554872
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:11554173
G Arc activity-regulated cytoskeleton-associated protein JBrowse link 7 115,907,097 115,911,059 RGD:8655535
RGD:8655538
G Bcl2l1 Bcl2-like 1 JBrowse link 3 148,259,594 148,314,191 RGD:11554173
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8655535
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:8698665
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Clcc1 chloride channel CLIC-like 1 JBrowse link 2 211,450,426 211,479,885 RGD:8554872
G Cldn14 claudin 14 JBrowse link 11 34,132,581 34,142,813 RGD:8554872
G Coch cochlin JBrowse link 6 72,359,702 72,373,710 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Cx3cl1 C-X3-C motif chemokine ligand 1 JBrowse link 19 10,644,267 10,654,861 RGD:9491762
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link 8 128,740,756 128,754,514 RGD:9491762
G Dhx30 DExH-box helicase 30 JBrowse link 8 118,160,315 118,194,674 RGD:8554872
G Diaph1 diaphanous-related formin 1 JBrowse link 18 30,972,907 31,071,371 RGD:8554872
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:11554173
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:8553063
G Esrrb estrogen-related receptor beta JBrowse link 6 110,360,940 110,458,406 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:12904051
G Foxi1 forkhead box I1 JBrowse link 10 19,160,566 19,164,505 RGD:8554872
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8662384
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7364794
RGD:8554872
RGD:7364893
RGD:7364886
RGD:7364810
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:7364893
RGD:8554872
RGD:7364899
RGD:7364895
G Gpsm2 G-protein signaling modulator 2 JBrowse link 2 211,480,120 211,528,096 RGD:8554872
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 JBrowse link 14 41,663,688 41,787,331 RGD:8554872
G Gsdme gasdermin E JBrowse link 4 79,934,075 79,999,678 RGD:11554173
RGD:8554872
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:8548550
RGD:8554872
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:7364829
RGD:7364842
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:8554872
G Kcnj9 potassium voltage-gated channel subfamily J member 9 JBrowse link 13 90,703,046 90,710,148 RGD:8554872
G Lhfpl5 LHFPL tetraspan subfamily member 5 JBrowse link 20 5,815,837 5,826,137 RGD:8554872
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Loxhd1 lipoxygenase homology domains 1 JBrowse link 18 73,645,365 73,812,271 RGD:8554872
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing JBrowse link 1 166,985,468 166,989,681 RGD:8554872
G Marveld2 MARVEL domain containing 2 JBrowse link 2 30,612,746 30,634,308 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Mir96 microRNA 96 JBrowse link 4 57,463,366 57,463,471 RGD:11554173
G Mitf melanogenesis associated transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
G Msrb3 methionine sulfoxide reductase B3 JBrowse link 7 62,850,506 62,972,487 RGD:11554173
RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:8554872
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7387225
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:7387225
G Myh14 myosin heavy chain 14 JBrowse link 1 100,608,975 100,671,086 RGD:8554872
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:8554872
G Myo3a myosin IIIA JBrowse link 17 88,952,635 89,167,538 RGD:8554872
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:8554872
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8554872
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:8554872
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:11554173
G Numa1 nuclear mitotic apparatus protein 1 JBrowse link 1 167,044,544 167,091,453 RGD:8554872
G Otof otoferlin JBrowse link 6 27,328,343 27,424,864 RGD:8554872
G Otog otogelin JBrowse link 1 102,258,124 102,327,201 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
G Pde5a phosphodiesterase 5A JBrowse link 2 226,899,604 227,044,916 RGD:7775056
G Pjvk pejvakin JBrowse link 3 63,508,386 63,518,163 RGD:8554872
G Pogz pogo transposable element derived with ZNF domain JBrowse link 2 195,995,322 196,041,500 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Pou3f4 POU class 3 homeobox 4 JBrowse link X 82,143,789 82,145,066 RGD:8554872
G Prkg1 protein kinase, cGMP-dependent, type 1 JBrowse link 1 248,982,039 250,300,952 RGD:7775056
G Prkra protein activator of interferon induced protein kinase EIF2AK2 JBrowse link 3 63,489,081 63,507,918 RGD:8554872
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
G Ptrh2 peptidyl-tRNA hydrolase 2 JBrowse link 10 74,002,151 74,012,182 RGD:8554872
G Rdx radixin JBrowse link 8 56,570,728 56,612,851 RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:11554173
G RT1-CE13 RT1 class I, locus CE13 RGD:7364915
G Sf3b4 splicing factor 3b, subunit 4 JBrowse link 2 198,312,428 198,317,180 RGD:8554872
G Sh3pxd2b SH3 and PX domains 2B JBrowse link 10 17,209,152 17,296,449 RGD:11554173
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:8554876
RGD:8554879
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:11554173
RGD:8554872
G Slc26a5 solute carrier family 26 member 5 JBrowse link 4 9,795,811 9,860,904 RGD:9479049
RGD:8554872
RGD:9479051
RGD:9479050
G Slc29a3 solute carrier family 29 member 3 JBrowse link 20 30,289,527 30,327,343 RGD:11554173
G Slc33a1 solute carrier family 33 member 1 JBrowse link 2 154,520,170 154,542,981 RGD:11554173
G Smpx small muscle protein, X-linked JBrowse link X 40,029,200 40,086,870 RGD:8554872
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:1581213
RGD:11554173
G Stat1 signal transducer and activator of transcription 1 JBrowse link 9 54,287,540 54,327,958 RGD:11554173
G Tecta tectorin alpha JBrowse link 8 46,603,728 46,675,658 RGD:8554872
G Tjp2 tight junction protein 2 JBrowse link 1 241,945,816 242,084,044 RGD:11554173
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:7800663
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7800663
RGD:11554173
G Tlr9 toll-like receptor 9 JBrowse link 8 114,916,122 114,920,171 RGD:7800663
G Tmc1 transmembrane channel-like 1 JBrowse link 1 238,336,919 238,525,792 RGD:8554872
G Tmie transmembrane inner ear JBrowse link 8 119,142,116 119,157,071 RGD:8554872
G Tmprss3 transmembrane protease, serine 3 JBrowse link 20 9,910,522 9,929,705 RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7394702
G Ucp2 uncoupling protein 2 JBrowse link 1 165,506,375 165,512,744 RGD:10045653
G Ucp3 uncoupling protein 3 JBrowse link 1 165,482,912 165,495,895 RGD:10045653
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8694454
RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8547954
RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:8554872
Hearing Loss, Bilateral term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo3a myosin IIIA JBrowse link 17 88,952,635 89,167,538 RGD:1600555
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:7411669
Hearing Loss, Cisplatin-Induced term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camk2a calcium/calmodulin-dependent protein kinase II alpha JBrowse link 18 56,193,978 56,295,869 RGD:9685025
G Camk2b calcium/calmodulin-dependent protein kinase II beta JBrowse link 14 86,208,876 86,297,727 RGD:9685025
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9197256
G Gsk3b glycogen synthase kinase 3 beta JBrowse link 11 65,060,884 65,208,842 RGD:10045579
Hearing Loss, Cisplatin-Induced, Susceptibility To term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acyp2 acylphosphatase 2 JBrowse link 14 114,891,245 115,052,497 RGD:11554173
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:11554173
G Tpmt thiopurine S-methyltransferase JBrowse link 17 18,029,090 18,047,716 RGD:11554173
Hearing Loss, Conductive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:11554173
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:12801451
Hearing Loss, High-Frequency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7394699
Hearing Loss, Noise-Induced term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arc activity-regulated cytoskeleton-associated protein JBrowse link 7 115,907,097 115,911,059 RGD:8655559
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8636263
RGD:8655575
RGD:8655559
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068906
RGD:9190810
RGD:9068923
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8549464
G Ccr2 C-C motif chemokine receptor 2 RGD:8657356
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8662283
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:8661793
G Cfi complement factor I JBrowse link 2 235,264,149 235,305,779 RGD:8662317
G Cntn1 contactin 1 JBrowse link 7 133,290,606 133,588,314 RGD:5685697
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7349367
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:7488956
RGD:7495798
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:7495798
RGD:7794850
G Hif1a hypoxia inducible factor 1 alpha subunit JBrowse link 6 96,810,868 96,856,303 RGD:8695948
G Hspa1a heat shock protein family A (Hsp70) member 1A JBrowse link 20 4,875,834 4,881,751 RGD:8662466
G Hspa1b heat shock protein family A (Hsp70) member 1B JBrowse link 20 4,877,638 4,880,112 RGD:8662841
G Hspa1l heat shock protein family A (Hsp70) member 1 like JBrowse link 20 4,879,998 4,965,191 RGD:8662466
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8547577
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8549455
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829818
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 11 32,498,260 32,511,202 RGD:11554173
RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:11554173
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 5 139,625,783 139,677,300 RGD:11554173
G Mir107 microRNA 107 JBrowse link 1 253,128,250 253,128,336 RGD:11554173
G Mir10a microRNA 10a JBrowse link 10 84,165,950 84,166,059 RGD:11554173
G Mir130b microRNA 130b JBrowse link 11 88,129,773 88,129,854 RGD:11554173
G Mir146b microRNA 146b JBrowse link 1 266,089,488 266,089,575 RGD:11554173
G Mir183 microRNA 183 JBrowse link 4 57,463,569 57,463,678 RGD:11554173
G Mir186 microRNA 186 JBrowse link 2 263,873,759 263,873,844 RGD:11554173
G Mir190b microRNA 190b JBrowse link 2 189,421,137 189,421,214 RGD:11554173
G Mir200c microRNA 200c JBrowse link 4 157,236,786 157,236,854 RGD:11554173
G Mir30d microRNA 30d JBrowse link 7 109,286,463 109,286,544 RGD:11554173
G Mir30e microRNA 30e JBrowse link 5 139,702,872 139,702,963 RGD:11554173
G Mir331 microRNA 331 JBrowse link 7 34,881,095 34,881,190 RGD:11554173
G Mir339 microRNA 339 JBrowse link 12 17,369,002 17,369,097 RGD:11554173
G Mir381 microRNA 381 JBrowse link 6 133,876,615 133,876,675 RGD:11554173
G Mir429 microRNA 429 JBrowse link 5 173,488,331 173,488,415 RGD:11554173
G Mir532 microRNA 532 JBrowse link X 16,109,870 16,109,948 RGD:11554173
G Mir99b microRNA 99b JBrowse link 1 59,704,216 59,704,285 RGD:11554173
G Mmp7 matrix metallopeptidase 7 JBrowse link 8 5,893,253 5,900,965 RGD:9685340
G Nob1 NIN1/PSMD8 binding protein 1 homolog JBrowse link 19 38,397,466 38,409,924 RGD:10766449
G Ogg1 8-oxoguanine DNA glycosylase JBrowse link 4 145,282,828 145,289,367 RGD:8657374
RGD:11554173
G Pon2 paraoxonase 2 JBrowse link 4 30,344,705 30,380,119 RGD:8661240
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:11100045
G Ptger4 prostaglandin E receptor 4 JBrowse link 2 54,951,625 54,966,470 RGD:6483524
G Sell selectin L JBrowse link 13 82,369,820 82,387,774 RGD:5685697
G Slc26a5 solute carrier family 26 member 5 JBrowse link 4 9,795,811 9,860,904 RGD:9585684
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655611
RGD:8655966
RGD:8655851
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8158044
RGD:8158046
G Taok1 TAO kinase 1 JBrowse link 10 62,542,870 62,630,341 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7394705
Hearing Loss, Sensorineural term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:11554173
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:7771593
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 2 204,003,742 204,032,023 RGD:7349365
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 JBrowse link 13 82,737,161 82,757,681 RGD:7349365
G Bcap31 B-cell receptor-associated protein 31 JBrowse link X 157,094,365 157,126,397 RGD:7483567
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8655560
G Bsnd barttin CLCNK type accessory beta subunit JBrowse link 5 126,071,849 126,080,647 RGD:1600603
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:8547516
G Clcn3 chloride voltage-gated channel 3 JBrowse link 16 32,448,821 32,520,649 RGD:8554872
G Clcnka chloride voltage-gated channel Ka JBrowse link 5 159,931,497 159,946,483 RGD:1300378
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:11554173
RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8657344
RGD:11554173
G Col9a1 collagen type IX alpha 1 chain JBrowse link 9 30,419,001 30,502,307 RGD:11554173
G Col9a3 collagen type IX alpha 3 chain JBrowse link 3 176,102,287 176,124,839 RGD:8554872
G Diaph1 diaphanous-related formin 1 JBrowse link 18 30,972,907 31,071,371 RGD:1601058
G Dpt dermatopontin JBrowse link 13 83,073,307 83,102,404 RGD:8554872
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:6480217
G Ednrbsl endothelin receptor type B, spotting lethal RGD:6480217
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11567237
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:11567237
G Eya4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 23,237,617 23,611,580 RGD:1598455
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:7387261
RGD:7387268
RGD:7387240
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:7387260
RGD:7387261
RGD:7387240
G Fadd Fas associated via death domain JBrowse link 1 217,746,176 217,748,581 RGD:11554173
G Fgf3 fibroblast growth factor 3 JBrowse link 1 218,003,018 218,006,942 RGD:11554173
G Gabrr2 gamma-aminobutyric acid type A receptor rho 2 subunit JBrowse link 5 48,303,366 48,341,571 RGD:8554872
G Gata3 GATA binding protein 3 JBrowse link 17 72,419,752 72,452,043 RGD:1358706
G Gcc2 GRIP and coiled-coil domain containing 2 JBrowse link 20 27,832,960 27,879,764 RGD:8554872
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7349365
RGD:8554872
RGD:11554173
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:8554872
RGD:11554173
G Gjc3 gap junction protein, gamma 3 JBrowse link 12 19,166,074 19,177,701 RGD:1578421
G Gpsm2 G-protein signaling modulator 2 JBrowse link 2 211,480,120 211,528,096 RGD:11552574
RGD:8554872
RGD:11552577
G Grhl2 grainyhead-like transcription factor 2 JBrowse link 7 76,058,623 76,197,360 RGD:8554872
G Gsdme gasdermin E JBrowse link 4 79,934,075 79,999,678 RGD:1599770
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:7987908
RGD:8142347
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8662926
G Irx5 iroquois homeobox 5 JBrowse link 19 16,415,813 16,421,088 RGD:11554173
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:8686432
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:7349365
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 5 139,625,783 139,677,300 RGD:1600303
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:10403058
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:11554173
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:8693695
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Myh14 myosin heavy chain 14 JBrowse link 1 100,608,975 100,671,086 RGD:1600531
RGD:8554872
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:11533922
RGD:8554872
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:1600554
G Myo1a myosin IA JBrowse link 7 71,000,299 71,019,386 RGD:1600218
G Myo1f myosin IF JBrowse link 7 18,440,742 18,491,448 RGD:8554872
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:1600556
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8694138
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:8655553
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:11556244
G Phf7 PHD finger protein 7 JBrowse link 16 7,323,527 7,336,609 RGD:8554872
G Pou4f3 POU class 4 homeobox 3 JBrowse link 18 36,713,869 36,716,461 RGD:8554872
G Prickle3 prickle planar cell polarity protein 3 JBrowse link X 15,682,652 15,693,473 RGD:8554872
G Prkcb protein kinase C, beta JBrowse link 1 192,233,569 192,575,339 RGD:8554872
G Ptgds prostaglandin D2 synthase JBrowse link 3 2,686,125 2,689,059 RGD:7349365
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
G RT1-CE13 RT1 class I, locus CE13 RGD:7365120
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365101
G Sema3d semaphorin 3D JBrowse link 4 19,224,378 19,413,519 RGD:8554872
G Slc12a2 solute carrier family 12 member 2 JBrowse link 18 52,917,124 52,985,281 RGD:7349365
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:11554173
RGD:8554872
G Slc26a5 solute carrier family 26 member 5 JBrowse link 4 9,795,811 9,860,904 RGD:9585667
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8547516
G Strc stereocilin JBrowse link 3 113,324,403 113,343,513 RGD:1599186
G Tecta tectorin alpha JBrowse link 8 46,603,728 46,675,658 RGD:1599380
RGD:1599381
G Tmc1 transmembrane channel-like 1 JBrowse link 1 238,336,919 238,525,792 RGD:1599440
G Tmie transmembrane inner ear JBrowse link 8 119,142,116 119,157,071 RGD:1599441
G Tmprss3 transmembrane protease, serine 3 JBrowse link 20 9,910,522 9,929,705 RGD:1599443
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7387303
RGD:8142347
RGD:7394704
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:1600453
RGD:8695932
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8694398
RGD:8694404
RGD:8694401
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:1580603
Hearing Loss, Sudden term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspa1a heat shock protein family A (Hsp70) member 1A JBrowse link 20 4,875,834 4,881,751 RGD:8662465
G Hspa1b heat shock protein family A (Hsp70) member 1B JBrowse link 20 4,877,638 4,880,112 RGD:8662465
G Hspa1l heat shock protein family A (Hsp70) member 1 like JBrowse link 20 4,879,998 4,965,191 RGD:8662465
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548824
G Il4r interleukin 4 receptor JBrowse link 1 196,942,343 196,967,221 RGD:7829784
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7394753
RGD:8547982
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:1582302
G Lta lymphotoxin alpha JBrowse link 20 4,851,889 4,854,677 RGD:8548795
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:8549733
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7387236
RGD:11554173
RGD:7387243
RGD:7387240
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:8694081
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:7771541
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:8547564
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365092
RGD:7365115
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:8547731
RGD:8547740
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7394753
HID Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
Histiocytosis with Joint Contractures and Sensorineural Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc29a3 solute carrier family 29 member 3 JBrowse link 20 30,289,527 30,327,343 RGD:7240710
RGD:8554872
RGD:11554173
Hypopharyngeal Neoplasms term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8158078
Insulin-Like Growth Factor I Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:7240710
RGD:8554872
Jejunal Atresia with Microcephaly and Ocular Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpf centromere protein F JBrowse link 13 108,132,499 108,178,609 RGD:8554872
RGD:11554173
Jensen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm8a1 translocase of inner mitochondrial membrane 8 homolog A1 (yeast) JBrowse link X 105,351,714 105,355,722 RGD:7240710
RGD:13209136
RGD:13209134
RGD:13209130
RGD:11554173
RGD:8554872
Johanson Blizzard Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 JBrowse link 3 112,800,557 112,910,038 RGD:7240710
RGD:8554872
Kabuki syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm6a lysine demethylase 6A JBrowse link X 4,805,493 4,945,788 RGD:11554173
G Kmt2d lysine methyltransferase 2D JBrowse link 7 140,507,137 140,542,479 RGD:7240710
RGD:8554872
RGD:11554173
RGD:9588235
Kabuki Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst7 carbohydrate sulfotransferase 7 JBrowse link X 2,623,018 2,657,155 RGD:8554872
G Dusp21 dual specificity phosphatase 21 JBrowse link X 4,956,699 4,957,555 RGD:8554872
G Efhc2 EF-hand domain containing 2 JBrowse link X 5,825,551 6,026,398 RGD:8554872
G Fundc1 FUN14 domain containing 1 JBrowse link X 5,549,468 5,566,125 RGD:8554872
G Kdm6a lysine demethylase 6A JBrowse link X 4,805,493 4,945,788 RGD:7240710
RGD:8554872
G Maoa monoamine oxidase A JBrowse link X 6,554,698 6,620,722 RGD:8554872
G Maob monoamine oxidase B JBrowse link X 6,430,694 6,533,520 RGD:8554872
G Mir221 microRNA 221 JBrowse link X 3,684,480 3,684,588 RGD:8554872
G Mir222 microRNA 222 JBrowse link X 3,683,919 3,684,021 RGD:8554872
G Ndp NDP, norrin cystine knot growth factor JBrowse link X 6,791,090 6,815,586 RGD:8554872
G RGD1559731 similar to RIKEN cDNA 4930578C19 JBrowse link X 4,691,406 4,743,999 RGD:8554872
G Rp2 RP2, ARL3 GTPase activating protein JBrowse link X 2,066,298 2,116,661 RGD:8554872
G Slc9a7 solute carrier family 9 member A7 JBrowse link X 2,434,918 2,615,936 RGD:8554872
G Zfp819 zinc finger protein 819 JBrowse link 1 99,521,177 99,539,232 RGD:8554872
Kartagener Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak7 adenylate kinase 7 JBrowse link 6 129,538,648 129,606,960 RGD:8554872
G Armc4 armadillo repeat containing 4 JBrowse link 17 60,283,926 60,474,289 RGD:8554872
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Ccdc114 coiled-coil domain containing 114 JBrowse link 1 101,904,042 101,932,999 RGD:8554872
G Ccdc151 coiled-coil domain containing 151 JBrowse link 8 23,000,912 23,014,707 RGD:8554872
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:8554872
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:8554872
RGD:11554173
G Ccdc65 coiled-coil domain containing 65 JBrowse link 7 140,383,395 140,397,186 RGD:8554872
G Ccno cyclin O JBrowse link 2 44,857,043 44,860,317 RGD:8554872
G Cdca7l cell division cycle associated 7 like JBrowse link 6 145,739,570 145,785,607 RGD:8554872
G Dnaaf1 dynein, axonemal, assembly factor 1 JBrowse link 19 52,217,427 52,245,930 RGD:8554872
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
RGD:11554173
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:8554872
RGD:11554173
G Dnaaf5 dynein, axonemal, assembly factor 5 JBrowse link 12 17,545,468 17,584,466 RGD:8554872
G Dnah1 dynein, axonemal, heavy chain 1 JBrowse link 16 7,345,131 7,407,009 RGD:8554872
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:734893
RGD:8554872
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:1601080
RGD:8554872
G Dnah8 dynein, axonemal, heavy chain 8 JBrowse link 20 9,301,317 9,560,805 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:1601083
RGD:11554173
RGD:8554872
RGD:7240710
G Dnai2 dynein, axonemal, intermediate chain 2 JBrowse link 10 103,266,343 103,301,521 RGD:8554872
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:8554872
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:8554872
RGD:11554173
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:8554872
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:8554872
G Hydin Hydin, axonemal central pair apparatus protein JBrowse link 19 41,036,507 41,379,634 RGD:8554872
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:8554872
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:11250592
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein JBrowse link 2 44,863,246 44,869,732 RGD:8554872
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:8554872
G Polr2k RNA polymerase II subunit K JBrowse link 7 74,939,010 74,992,594 RGD:8554872
G Prkar1b protein kinase cAMP-dependent type 1 regulatory subunit beta JBrowse link 12 17,614,536 17,713,567 RGD:8554872
G RGD1306954 similar to RIKEN cDNA 1110004E09 JBrowse link 11 31,094,103 31,103,487 RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8554872
G Rsph1 radial spoke head 1 homolog JBrowse link 20 9,998,698 10,020,719 RGD:8554872
G Rsph3 radial spoke head 3 homolog JBrowse link 1 47,412,151 47,478,924 RGD:8554872
G Rsph4a radial spoke head 4 homolog A JBrowse link 20 32,450,701 32,467,362 RGD:8554872
G Rsph9 radial spoke head 9 homolog JBrowse link 9 17,224,589 17,245,093 RGD:8554872