ONTOLOGY REPORT - ANNOTATIONS


Term:Deafness
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Accession:DOID:9008681 term browser browse the term
Definition:A general term for the complete loss of the ability to hear from both ears.
Synonyms:exact_synonym: Acquired Deafness;   Bilateral Deafness;   Complete Hearing Loss;   Deaf Mutism;   Extreme Hearing Loss;   Prelingual Deafness
 primary_id: MESH:D003638;   RDO:0000298
For additional species annotation, visit the Alliance of Genome Resources.


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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 Cdc14a cell division cycle 14A JBrowse link 2 219,302,577 219,458,345 RGD:11554173
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Clcnka chloride voltage-gated channel Ka JBrowse link 5 159,931,497 159,946,483 RGD:8554872
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 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 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 Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8549497
G Ildr1 immunoglobulin-like domain containing receptor 1 JBrowse link 11 67,004,042 67,037,115 RGD:8554872
G Jag1 jagged canonical Notch ligand 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 Loxhd1 lipoxygenase homology domains 1 JBrowse link 18 73,645,365 73,812,271 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 Mitf melanocyte inducing 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:8554872
RGD:1581470
RGD:8694136
G Otof otoferlin JBrowse link 6 27,328,343 27,424,864 RGD:9491387
RGD:8554872
RGD:11554173
G Otog otogelin JBrowse link 1 102,258,124 102,327,201 RGD:8554872
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
RGD:8554872
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 100,538,066 100,554,105 RGD:11554173
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:1599156
RGD:1599155
G Pou4f3 POU class 4 homeobox 3 JBrowse link 18 36,713,869 36,716,461 RGD:1599168
G Ptprq protein tyrosine phosphatase, receptor type, Q JBrowse link 7 49,763,657 50,034,932 RGD:8554872
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:2324943
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
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:8554872
RGD:7411670
RGD:7411562
RGD:7411559
RGD:1599217
RGD:1599215
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 Tecta tectorin alpha JBrowse link 8 46,603,728 46,675,658 RGD:8554872
G Tmc1 transmembrane channel-like 1 JBrowse link 1 238,336,919 238,525,792 RGD:8554872
G Tmtc2 transmembrane and tetratricopeptide repeat containing 2 JBrowse link 7 47,179,596 47,586,777 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
RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:8554872
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
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
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph3 diaphanous-related formin 3 JBrowse link 15 69,928,507 70,400,077 RGD:7240710
RGD:8554872
Autosomal Dominant Deafness 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:8554872
RGD:12910984
Autosomal Dominant Deafness 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
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:7364809
RGD:8554872
RGD:7364885
RGD:7240710
RGD:7364889
RGD:7364813
RGD:7364811
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
G Pde1c phosphodiesterase 1C JBrowse link 4 86,359,762 86,925,044 RGD:8554872
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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 stomatin family member, 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
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:13592920
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rest RE1-silencing transcription factor JBrowse link 14 33,131,985 33,152,019 RGD:7240710
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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:7240710
autosomal dominant nonsyndromic deafness 4A 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:13592920
G Myh14 myosin heavy chain 14 JBrowse link 1 100,608,975 100,671,086 RGD:7240710
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tjp2 tight junction protein 2 JBrowse link 1 241,945,816 242,084,044 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pappa1 pappalysin 1 JBrowse link 5 80,919,932 81,153,904 RGD:8554872
G Tnc tenascin C JBrowse link 5 79,789,686 79,874,555 RGD:7240710
RGD:8554872
G Tnfsf8 TNF superfamily member 8 JBrowse link 5 79,664,779 79,691,547 RGD:8554872
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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
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
autosomal dominant nonsyndromic deafness 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:7240710
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Homer2 homer scaffold protein 2 JBrowse link 1 143,443,300 143,535,579 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 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
autosomal dominant nonsyndromic deafness 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:7240710
autosomal dominant nonsyndromic deafness 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
RGD:7240710
autosomal dominant nonsyndromic deafness 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
RGD:7240710
autosomal dominant nonsyndromic deafness 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
RGD:7240710
autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde1c phosphodiesterase 1C JBrowse link 4 86,359,762 86,925,044 RGD:8554872
RGD:7240710
autosomal dominant nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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:8554872
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 JBrowse link 4 115,417,100 115,435,754 RGD:13592920
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 Gpsm2 G-protein signaling modulator 2 JBrowse link 2 211,480,120 211,528,096 RGD:8554872
G Loxhd1 lipoxygenase homology domains 1 JBrowse link 18 73,645,365 73,812,271 RGD:8554872
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:8554872
G Otof otoferlin JBrowse link 6 27,328,343 27,424,864 RGD:9479154
RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:8554872
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
RGD:7240710
autosomal recessive nonsyndromic deafness 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
RGD:7240710
autosomal recessive nonsyndromic deafness 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
RGD:7240710
Autosomal Recessive Nonsyndromic Deafness 109 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esrp1 epithelial splicing regulatory protein 1 JBrowse link 5 24,576,988 24,631,758 RGD:8554872
RGD:7240710
Autosomal Recessive Nonsyndromic Deafness 110 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coch cochlin JBrowse link 6 72,359,702 72,373,710 RGD:8554872
Autosomal Recessive Nonsyndromic Deafness 111 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpzl2 myelin protein zero-like 2 JBrowse link 8 49,342,067 49,353,080 RGD:8554872
RGD:7240710
Autosomal Recessive Nonsyndromic Deafness 112 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB JBrowse link 2 30,248,458 30,340,211 RGD:8554872
RGD:7240710
Autosomal Recessive Nonsyndromic Deafness 113 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 16 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
G Ckmt1 creatine kinase, mitochondrial 1 JBrowse link 3 113,318,559 113,324,459 RGD:8554872
G Strc stereocilin JBrowse link 3 113,324,403 113,343,513 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
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 Tmc1 transmembrane channel-like 1 JBrowse link 1 238,336,919 238,525,792 RGD:8554872
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:8554872
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gab1 GRB2-associated binding protein 1 JBrowse link 19 30,794,290 30,903,819 RGD:8554872
RGD:7240710
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trio trio Rho guanine nucleotide exchange factor JBrowse link 2 80,471,398 80,769,313 RGD:8554872
G Triobp TRIO and F-actin binding protein JBrowse link 7 120,173,892 120,237,145 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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 Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:7240710
RGD:8554872
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:8554872
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:8554872
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 32 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:7240710
RGD:11554173
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 36 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 4 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 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 Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 63 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 Lrtomt leucine rich transmembrane and O-methyltransferase domain containing JBrowse link 1 166,985,468 166,989,681 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 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:8554872
RGD:10412291
autosomal recessive nonsyndromic deafness 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:11554173
RGD:8554872
autosomal recessive nonsyndromic deafness 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:7240710
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:8554872
G F13a1 coagulation factor XIII A1 chain JBrowse link 17 28,504,650 28,680,015 RGD:8554872
G F13b coagulation factor XIII B chain JBrowse link 13 56,598,891 56,623,132 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:8554872
G Nphs2 NPHS2 stomatin family member, 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 Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:8554872
G Strc stereocilin JBrowse link 3 113,324,403 113,343,513 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
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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 Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmprss3 transmembrane serine protease 3 JBrowse link 20 9,910,522 9,929,705 RGD:7240710
RGD:8554872
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 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 Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
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 Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
autosomal recessive nonsyndromic deafness 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
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aadac arylacetamide deacetylase JBrowse link 2 150,146,234 150,157,480 RGD:8554872
G Adnp2 ADNP homeobox 2 JBrowse link 18 76,637,415 76,661,186 RGD:8554872
G Atp9b ATPase phospholipid transporting 9B (putative) JBrowse link 18 77,343,551 77,535,608 RGD:8554872
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:8554872
G Galr1 galanin receptor 1 JBrowse link 18 79,243,009 79,258,570 RGD:8554872
G Hsbp1l1 heat shock factor binding protein 1-like 1 JBrowse link 18 76,748,067 76,754,642 RGD:8554872
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 18 76,808,294 76,880,742 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:8554872
G Nfatc1 nuclear factor of activated T-cells 1 JBrowse link 18 77,203,517 77,322,690 RGD:8554872
G Pard6g par-6 family cell polarity regulator gamma JBrowse link 18 76,559,877 76,627,843 RGD:8554872
G Pqlc1 PQ loop repeat containing 1 JBrowse link 18 76,768,466 76,805,773 RGD:8554872
G Rbfa ribosome binding factor A JBrowse link 18 76,704,223 76,714,387 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 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
G Zfp236 zinc finger protein 236 JBrowse link 18 79,447,384 79,543,271 RGD:8554872
G Zfp516 zinc finger protein 516 JBrowse link 18 79,768,387 79,857,909 RGD:8554872
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
RGD:7240710
Congenital Deafness, 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:7240710
Congenital Myopathy with Neuropathy and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptbn4 spectrin, beta, non-erythrocytic 4 JBrowse link 1 84,168,494 84,254,679 RGD:8554872
RGD:7240710
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 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, 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 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdzd7 PDZ domain containing 7 JBrowse link 1 264,776,393 264,796,206 RGD:8554872
RGD:7240710
Deafness, Nonsyndromic, Modifier 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eef1aknmt eEF1A lysine and N-terminal methyltransferase JBrowse link 13 80,427,595 80,441,353 RGD:8554872
RGD:7240710
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
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm8a1 translocase of inner mitochondrial membrane 8A1 JBrowse link X 105,351,714 105,355,722 RGD:13209130
RGD:11554173
RGD:8554872
RGD:7240710
RGD:13209136
RGD:13209134
Gonadal Dysgenesis, XX Type, with Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bnc2 basonuclin 2 JBrowse link 5 102,407,508 102,807,389 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 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
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
Hearing Loss, Cisplatin-Induced 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 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 Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:11554173
G Gsk3b glycogen synthase kinase 3 beta JBrowse link 11 65,060,884 65,208,842 RGD:10045579
G Tpmt thiopurine S-methyltransferase JBrowse link 17 18,029,090 18,047,716 RGD:11554173
ITM2B-related cerebral amyloid angiopathy 2 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
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 100,538,066 100,554,105 RGD:7240710
RGD:8554872
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 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:7240710
RGD:8554872
RGD:13442490
RGD:11040909
RGD:1599406
Muckle-Wells syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:6906895
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:7240710
RGD:8554872
RGD:11554173
Multiple Synostoses Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf9 fibroblast growth factor 9 JBrowse link 15 38,341,657 38,386,945 RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
RGD:12738199
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:1600234
RGD:8554872
RGD:12801467
RGD:7240710
Nasodigitoacoustic Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc4 glypican 4 JBrowse link X 139,354,325 139,464,876 RGD:8554872
nonsyndromic deafness 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:8554872
G Alg10 ALG10, alpha-1,2-glucosyltransferase JBrowse link 7 131,330,913 131,336,183 RGD:13592920
G Ceacam16 carcinoembryonic antigen-related cell adhesion molecule 16 JBrowse link 1 80,773,819 80,783,898 RGD:8554872
G Cib2 calcium and integrin binding family member 2 JBrowse link 8 59,123,078 59,139,946 RGD:8554872
G Coch cochlin JBrowse link 6 72,359,702 72,373,710 RGD:8554872
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
G Dcdc2 doublecortin domain containing 2 JBrowse link 17 41,838,201 42,031,265 RGD:8554872
G Esrrb estrogen-related receptor beta JBrowse link 6 110,360,940 110,458,406 RGD:8554872
G Eya4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 23,237,617 23,611,580 RGD:8554872
G Gipc3 GIPC PDZ domain containing family, member 3 JBrowse link 7 11,245,160 11,253,080 RGD:8554872
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:8554872
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 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:8554872
G Kars lysyl-tRNA synthetase JBrowse link 19 44,212,205 44,231,209 RGD:8554872
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 5 139,625,783 139,677,300 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 Mcoln1 mucolipin 1 JBrowse link 12 2,054,629 2,068,682 RGD:8554872
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:8554872
G Msrb3 methionine sulfoxide reductase B3 JBrowse link 7 62,850,506 62,972,487 RGD:8554872
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:11554173
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 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 Nphs2 NPHS2 stomatin family member, podocin JBrowse link 13 73,929,136 73,941,522 RGD:8554872
G Otoa otoancorin JBrowse link 1 191,029,861 191,097,524 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 Otogl otogelin-like JBrowse link 7 51,768,469 51,935,442 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
G Pjvk pejvakin JBrowse link 3 63,508,386 63,518,163 RGD:8554872
G Pou3f4 POU class 3 homeobox 4 JBrowse link X 82,143,789 82,145,066 RGD:8554872
G Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 JBrowse link 9 111,232,967 111,249,613 RGD:13592920
G Rdx radixin JBrowse link 8 56,570,728 56,612,851 RGD:8554872
G Serpinb6a serpin family B member 6A JBrowse link 17 32,154,747 32,209,598 RGD:8554872
G Strc stereocilin JBrowse link 3 113,324,403 113,343,513 RGD:8554872
G Syne4 spectrin repeat containing nuclear envelope family member 4 JBrowse link 1 88,772,729 88,777,044 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:11098120
G Tecta tectorin alpha JBrowse link 8 46,603,728 46,675,658 RGD:8554872
G Tgfa transforming growth factor alpha JBrowse link 4 117,961,877 118,045,923 RGD:11554173
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:11554173
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 serine protease 3 JBrowse link 20 9,910,522 9,929,705 RGD:8554872
G Triobp TRIO and F-actin binding protein JBrowse link 7 120,173,892 120,237,145 RGD:8554872
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8548458
RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872
Perrault syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit JBrowse link 9 10,048,715 10,056,068 RGD:13592920
G Hars2 histidyl-tRNA synthetase 2, mitochondrial JBrowse link 18 29,629,203 29,638,460 RGD:13592920
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:8554872
RGD:13592920
G Lars2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 8 132,441,277 132,537,176 RGD:8554872
RGD:13592920
Perrault Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hars2 histidyl-tRNA synthetase 2, mitochondrial JBrowse link 18 29,629,203 29,638,460 RGD:7240710
RGD:8554872
Perrault Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit JBrowse link 9 10,048,715 10,056,068 RGD:7240710
RGD:8554872
Perrault Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lars2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 8 132,441,277 132,537,176 RGD:7240710
RGD:8554872
Perrault syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:7240710
RGD:8554872
Perrault syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eral1 Era-like 12S mitochondrial rRNA chaperone 1 JBrowse link 10 65,272,849 65,291,070 RGD:8554872
RGD:7240710
Progressive Hearing Loss Stapes Fixation 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:11554173
RGD:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:11554173
RGD:8554872
G Pou3f4 POU class 3 homeobox 4 JBrowse link X 82,143,789 82,145,066 RGD:7240710
RGD:8554872
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:8554872
G Hars histidyl-tRNA synthetase JBrowse link 18 29,611,545 29,629,087 RGD:8554872
G Hars2 histidyl-tRNA synthetase 2, mitochondrial JBrowse link 18 29,629,203 29,638,460 RGD:8554872
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8554872
G Otop2 otopetrin 2 JBrowse link 10 103,874,383 103,883,953 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8554872
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:8554872
Sinoatrial Node Dysfunction and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1d calcium voltage-gated channel subunit alpha1 D JBrowse link 16 6,110,294 6,405,022 RGD:7240710
RGD:8554872
temtamy preaxial brachydactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chsy1 chondroitin sulfate synthase 1 JBrowse link 1 127,010,587 127,071,570 RGD:7240710
RGD:8554872
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:7240710
RGD:8554872
Usher syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 JBrowse link 13 103,268,045 103,292,848 RGD:8554872
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8547536
RGD:8554872
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:8547535
G Dusp10 dual specificity phosphatase 10 JBrowse link 13 104,284,660 104,321,455 RGD:8554872
G Eprs glutamyl-prolyl-tRNA synthetase JBrowse link 13 103,300,911 103,371,651 RGD:8554872
G Esrrg estrogen-related receptor gamma JBrowse link 13 106,063,799 106,683,353 RGD:8554872
G Gpatch2 G patch domain containing 2 JBrowse link 13 105,684,300 105,824,405 RGD:8554872
G Hhipl2 HHIP like 2 JBrowse link 13 101,814,574 101,835,144 RGD:8554872
G Hlx H2.0-like homeobox JBrowse link 13 102,637,967 102,643,376 RGD:8554872
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:8554872
G Lyplal1 lysophospholipase-like 1 JBrowse link 13 104,049,263 104,080,680 RGD:8554872
G Marc1 mitochondrial amidoxime reducing component 1 JBrowse link 13 102,693,679 102,724,120 RGD:8554872
G Marc2 mitochondrial amidoxime reducing component 2 JBrowse link 13 102,724,266 102,755,511 RGD:8554872
G Mark1 microtubule affinity regulating kinase 1 JBrowse link 13 102,808,254 102,942,863 RGD:8554872
G Mir194-1 microRNA 194-1 JBrowse link 13 103,250,576 103,250,658 RGD:8554872
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8547536
RGD:8554872
RGD:11554173
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8547536
RGD:8554872
RGD:11554173
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:8554872
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:8554872
G RGD1310587 similar to hypothetical protein FLJ14146 JBrowse link 13 102,780,885 102,790,621 RGD:8554872
G Rrp15 ribosomal RNA processing 15 homolog JBrowse link 13 105,155,824 105,178,907 RGD:8554872
G Slc30a10 solute carrier family 30, member 10 JBrowse link 13 103,396,295 103,406,759 RGD:8554872
G Spata17 spermatogenesis associated 17 JBrowse link 13 105,489,121 105,684,293 RGD:8554872
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A JBrowse link 13 101,770,278 101,807,975 RGD:8554872
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8547536
RGD:8554872
RGD:8695937
RGD:8695939
RGD:8694458
RGD:8694457
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:8547536
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8547535
RGD:8554872
RGD:8547956
Usher syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Cib2 calcium and integrin binding family member 2 JBrowse link 8 59,123,078 59,139,946 RGD:8554872
G Espn espin JBrowse link 5 169,293,356 169,331,338 RGD:8554872
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8694152
RGD:8554872
RGD:13592920
G Otop2 otopetrin 2 JBrowse link 10 103,874,383 103,883,953 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
G Prdm16 PR/SET domain 16 JBrowse link 5 171,662,277 171,711,561 RGD:8554872
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8695918
RGD:8554872
RGD:13592920
RGD:8695921
RGD:8695919
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
Usher Syndrome Type 1B 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
RGD:1581470
RGD:8694151
RGD:8694137
RGD:8694135
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:11554173
Usher syndrome type 1C 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:11554173
RGD:1600453
Usher syndrome type 1D 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:7240710
RGD:8554872
RGD:8662279
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:7240710
RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
Usher syndrome type 1F 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
Usher syndrome type 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otop2 otopetrin 2 JBrowse link 10 103,874,383 103,883,953 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:7240710
RGD:8554872
Usher syndrome type 1J 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:11554173
RGD:8554872
Usher syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8547952
RGD:8694137
RGD:8547985
RGD:8547965
RGD:8547962
Usher syndrome type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bnc2 basonuclin 2 JBrowse link 5 102,407,508 102,807,389 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Kctd3 potassium channel tetramerization domain containing 3 JBrowse link 13 107,433,588 107,471,843 RGD:8554872
G Pdzd7 PDZ domain containing 7 JBrowse link 1 264,776,393 264,796,206 RGD:7240710
RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8547987
RGD:8547961
Usher syndrome type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:7240710
RGD:8554872
G Pdzd7 PDZ domain containing 7 JBrowse link 1 264,776,393 264,796,206 RGD:7240710
RGD:8554872
G Slc4a7 solute carrier family 4 member 7 JBrowse link 15 11,832,611 11,912,923 RGD:13592920
Usher syndrome type 2D 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
Usher syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:8554872
Usher syndrome type 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:634439
RGD:8554872
RGD:7240710
Usher syndrome type 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hars histidyl-tRNA synthetase JBrowse link 18 29,611,545 29,629,087 RGD:7240710
RGD:8554872
Usher Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arsg arylsulfatase G JBrowse link 10 97,722,550 97,859,975 RGD:8554872
RGD:7240710
Usher Syndrome, Type ID/F 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:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:8554872
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490247
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:1599813
RGD:8554872
RGD:11554173
Wolfram syndrome 1 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:8554872
RGD:7240710
Wolfram syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cisd2 CDGSH iron sulfur domain 2 JBrowse link 2 240,586,754 240,611,560 RGD:7240710
RGD:8554872
RGD:11554173
RGD:10045603
RGD:10045601
G Slc9b1 solute carrier family 9 member B1 JBrowse link 2 240,527,120 240,581,616 RGD:8554872
Wolfram-Like Syndrome, Autosomal Dominant 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
X-linked Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atg4a autophagy related 4A, cysteine peptidase JBrowse link X 112,328,907 112,403,157 RGD:8554872
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
X-linked nonsyndromic deafness 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:13592920
G Smpx small muscle protein, X-linked JBrowse link X 40,029,200 40,086,870 RGD:8554872
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    sensory system disease 4265
      auditory system disease 667
        Hearing Disorders 553
          Hearing Loss 549
            Deafness 261
              3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
              Absence of Tibia with Congenital Deafness 0
              Albinism Deafness Syndrome 0
              Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 0
              Ayazi Syndrome 0
              Branchiogenic-Deafness Syndrome 0
              Burn-Mckeown Syndrome 19
              COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
              Cardioauditory Syndrome of Sanchez Cascos 0
              Congenital Deafness and Familial Myoclonic Epilepsy 0
              Congenital Deafness, and Onychodystrophy, Autosomal Dominant 1
              Congenital Deafness, with Vitiligo and Achalasia 0
              Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 0
              Congenital Myopathy with Neuropathy and Deafness 1
              Coxoauricular Syndrome 0
              DEAFNESS AND MYOPIA 1
              Davenport Donlan Syndrome 0
              Deaf-Blind Disorders + 54
              Deafness Hyperuricemia Neurologic Ataxia 0
              Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
              Deafness, Congenital Onychodystrophy, Recessive Form 0
              Deafness, Nonsyndromic, Modifier 1 1
              Deafness, X-Linked 6 1
              Deafness, with Smith-Magenis Syndrome 1
              Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
              Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 0
              Fine-Lubinsky Syndrome 0
              Fountain Syndrome 0
              HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
              Herrmann Syndrome 0
              Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
              Hyperlipoproteinemia Type II, and Deafness 0
              ITM2B-related cerebral amyloid angiopathy 2 1
              Ichthyosiform Erythroderma, Corneal Involvement, Deafness 0
              Johnson Neuroectodermal Syndrome 0
              Jones Syndrome 0
              Konigsmark Knox Hussels Syndrome 0
              Lynch Lee Murday syndrome 0
              Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
              Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 1
              Meyenburg-Altherr-Uehlinger Syndrome 0
              Microcephaly Deafness Syndrome 0
              Muckle-Wells syndrome 2
              Multiple Synostoses Syndrome 1 3
              Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 0
              Myoclonus, Cerebellar Ataxia, and Deafness 0
              Nasodigitoacoustic Syndrome 1
              Nathalie Syndrome 0
              Nephrosis Deafness Urinary Tract Digital Malformation 0
              Noninsulin-Dependent Diabetes Mellitus with Deafness 0
              Opticocochleodentate Degeneration 0
              Perrault syndrome + 12
              Ramos Arroyo Clark Syndrome 0
              Ribbonlike Corneal Degeneration with Deafness 0
              Richards-Rundle Syndrome 0
              Schimke X-Linked Mental Retardation Syndrome 0
              Schlegelberger Grote Syndrome 0
              Secretory Diarrhea, Myopathy, and Deafness 0
              Sinoatrial Node Dysfunction and Deafness 1
              Tietz syndrome 1
              Wells Jankovic Syndrome 0
              Wright Dyck Syndrome 0
              X-Linked Mental Retardation Gustavson Type 0
              X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness 1
              X-linked Alport syndrome 3
              Y-Linked Deafness + 0
              Yemenite Deaf-Blind Hypopigmentation Syndrome 0
              autosomal dominant keratitis-ichthyosis-deafness syndrome 1
              autosomal dominant nonsyndromic deafness 65 1
              hereditary spastic paraplegia 24 0
              nonsyndromic deafness + 156
              temtamy preaxial brachydactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          Otorhinolaryngologic Diseases 1042
            auditory system disease 667
              Hearing Disorders 553
                Hearing Loss 549
                  Deafness 261
                    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1
                    Absence of Tibia with Congenital Deafness 0
                    Albinism Deafness Syndrome 0
                    Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 0
                    Ayazi Syndrome 0
                    Branchiogenic-Deafness Syndrome 0
                    Burn-Mckeown Syndrome 19
                    COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
                    Cardioauditory Syndrome of Sanchez Cascos 0
                    Congenital Deafness and Familial Myoclonic Epilepsy 0
                    Congenital Deafness, and Onychodystrophy, Autosomal Dominant 1
                    Congenital Deafness, with Vitiligo and Achalasia 0
                    Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 0
                    Congenital Myopathy with Neuropathy and Deafness 1
                    Coxoauricular Syndrome 0
                    DEAFNESS AND MYOPIA 1
                    Davenport Donlan Syndrome 0
                    Deaf-Blind Disorders + 54
                    Deafness Hyperuricemia Neurologic Ataxia 0
                    Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
                    Deafness, Congenital Onychodystrophy, Recessive Form 0
                    Deafness, Nonsyndromic, Modifier 1 1
                    Deafness, X-Linked 6 1
                    Deafness, with Smith-Magenis Syndrome 1
                    Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
                    Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 0
                    Fine-Lubinsky Syndrome 0
                    Fountain Syndrome 0
                    HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
                    Herrmann Syndrome 0
                    Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
                    Hyperlipoproteinemia Type II, and Deafness 0
                    ITM2B-related cerebral amyloid angiopathy 2 1
                    Ichthyosiform Erythroderma, Corneal Involvement, Deafness 0
                    Johnson Neuroectodermal Syndrome 0
                    Jones Syndrome 0
                    Konigsmark Knox Hussels Syndrome 0
                    Lynch Lee Murday syndrome 0
                    Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
                    Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 1
                    Meyenburg-Altherr-Uehlinger Syndrome 0
                    Microcephaly Deafness Syndrome 0
                    Muckle-Wells syndrome 2
                    Multiple Synostoses Syndrome 1 3
                    Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 0
                    Myoclonus, Cerebellar Ataxia, and Deafness 0
                    Nasodigitoacoustic Syndrome 1
                    Nathalie Syndrome 0
                    Nephrosis Deafness Urinary Tract Digital Malformation 0
                    Noninsulin-Dependent Diabetes Mellitus with Deafness 0
                    Opticocochleodentate Degeneration 0
                    Perrault syndrome + 12
                    Ramos Arroyo Clark Syndrome 0
                    Ribbonlike Corneal Degeneration with Deafness 0
                    Richards-Rundle Syndrome 0
                    Schimke X-Linked Mental Retardation Syndrome 0
                    Schlegelberger Grote Syndrome 0
                    Secretory Diarrhea, Myopathy, and Deafness 0
                    Sinoatrial Node Dysfunction and Deafness 1
                    Tietz syndrome 1
                    Wells Jankovic Syndrome 0
                    Wright Dyck Syndrome 0
                    X-Linked Mental Retardation Gustavson Type 0
                    X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness 1
                    X-linked Alport syndrome 3
                    Y-Linked Deafness + 0
                    Yemenite Deaf-Blind Hypopigmentation Syndrome 0
                    autosomal dominant keratitis-ichthyosis-deafness syndrome 1
                    autosomal dominant nonsyndromic deafness 65 1
                    hereditary spastic paraplegia 24 0
                    nonsyndromic deafness + 156
                    temtamy preaxial brachydactyly syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.