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ONTOLOGY REPORT - ANNOTATIONS


Term:Hearing Disorders
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Accession:DOID:9002500 term browser browse the term
Definition:Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways.
Synonyms:exact_synonym: Distorted Hearing;   Dysacusis;   Hearing Disorder;   Paracousis;   Paracusis
 primary_id: MESH:D006311;   RDO:0002921
For additional species annotation, visit the Alliance of Genome Resources.


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Hearing Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NIPBL NIPBL cohesin loading factor JBrowse link 5 78,585,649 78,772,665 RGD:9068941
G SRRM4 serine/arginine repetitive matrix 4 JBrowse link 12 119,939,573 120,117,175 RGD:9068941
G TTPA alpha tocopherol transfer protein JBrowse link 8 61,266,954 61,293,165 RGD:9068941
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 6 158,068,838 158,126,603 RGD:7240710
RGD:9068941
Abruzzo Erickson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBX22 T-box transcription factor 22 JBrowse link X 79,177,534 79,194,546 RGD:7240710
RGD:9068941
Arts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PITX2 paired like homeodomain 2 JBrowse link 4 113,676,846 113,696,518 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 107,094,898 107,117,117 RGD:7240710
RGD:9068941
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXA1 homeobox A1 JBrowse link 7 27,336,737 27,339,747 RGD:7240710
RGD:9068941
G HOXA2 homeobox A2 JBrowse link 7 27,344,100 27,346,794 RGD:9068941
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FDXR ferredoxin reductase JBrowse link 17 74,364,343 74,374,852 RGD:9068941
RGD:7240710
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DIAPH3 diaphanous related formin 3 JBrowse link 13 59,568,025 60,056,893 RGD:7240710
RGD:9068941
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNMT1 DNA methyltransferase 1 JBrowse link 19 10,342,478 10,390,397 RGD:7240710
RGD:9068941
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSPP dentin sialophosphoprotein JBrowse link 4 90,630,300 90,635,681 RGD:7240710
RGD:9068941
Autosomal Dominant Deafness 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH14 myosin heavy chain 14 JBrowse link 19 56,076,709 56,178,650 RGD:9068941
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 13 19,829,838 19,831,999 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYM crystallin mu JBrowse link 16 21,290,477 21,310,446 RGD:9068941
G PDE1C phosphodiesterase 1C JBrowse link 7 32,477,361 33,030,078 RGD:9068941
G PLS1 plastin 1 JBrowse link 3 147,221,909 147,338,600 RGD:9068941
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DIAPH1 diaphanous related formin 1 JBrowse link 5 142,990,248 143,092,558 RGD:7240710
RGD:9068941
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 6 135,116,275 135,405,295 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO7A myosin VIIA JBrowse link 11 75,834,409 75,908,297 RGD:7240710
RGD:9068941
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 6 33,849,885 33,879,635 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POU4F3 POU class 4 homeobox 3 JBrowse link 5 147,800,924 147,802,420 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STRC stereocilin JBrowse link 15 40,740,196 40,771,092 RGD:9068941
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH9 myosin heavy chain 9 JBrowse link 22 35,039,461 35,121,618 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTG1 actin gamma 1 JBrowse link 17 81,668,221 81,671,087 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO6 myosin VI JBrowse link 6 76,882,994 77,050,015 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIX1 SIX homeobox 1 JBrowse link 14 59,515,324 59,518,740 RGD:7240710
RGD:9068941
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 12 101,342,113 101,405,844 RGD:7240710
RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:9068941
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G REST RE1 silencing transcription factor JBrowse link 4 73,556,780 73,582,419 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GRHL2 grainyhead like transcription factor 2 JBrowse link 8 100,295,531 100,471,830 RGD:7240710
RGD:9068941
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 1 41,396,117 41,452,780 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB3 gap junction protein beta 3 JBrowse link 1 35,229,660 35,234,821 RGD:7240710
RGD:9068941
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 1 228,505,147 228,537,216 RGD:9068941
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 9 71,310,247 71,620,858 RGD:7240710
RGD:9068941
Autosomal Dominant Nonsyndromic Deafness 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 104,248,931 104,481,259 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB6 gap junction protein beta 6 JBrowse link 13 19,864,208 19,874,385 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYM crystallin mu JBrowse link 16 21,290,477 21,310,446 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P2RX2 purinergic receptor P2X 2 JBrowse link 12 134,679,826 134,694,613 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC50 coiled-coil domain containing 50 JBrowse link 3 196,968,825 197,038,668 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO1A myosin IA JBrowse link 12 32,130,054 32,152,335 RGD:9068941
RGD:7240710
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component JBrowse link 19 50,251,835 50,262,600 RGD:9068941
G MYH14 myosin heavy chain 14 JBrowse link 19 56,076,709 56,178,650 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component JBrowse link 19 50,251,835 50,262,600 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GSDME gasdermin E JBrowse link 7 24,977,838 25,039,525 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TJP2 tight junction protein 2 JBrowse link 9 67,865,958 68,020,569 RGD:9068941
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 5 147,800,924 147,802,420 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PAPPA pappalysin 1 JBrowse link 9 115,671,212 115,889,135 RGD:9068941
G TNC tenascin C JBrowse link 9 114,486,778 114,584,297 RGD:7240710
RGD:9068941
G TNFSF8 TNF superfamily member 8 JBrowse link 9 114,360,206 114,397,465 RGD:9068941
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 4 6,345,960 6,379,094 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DIABLO diablo IAP-binding mitochondrial protein JBrowse link 12 123,176,411 123,196,359 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBC1D24 TBC1 domain family member 24 JBrowse link 16 2,581,835 2,603,919 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD164 CD164 molecule JBrowse link 6 111,218,303 111,234,595 RGD:9068941
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 20 59,921,155 59,979,153 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOMER2 homer scaffold protein 2 JBrowse link 15 80,731,863 80,876,442 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KITLG KIT ligand JBrowse link 12 89,341,921 89,436,081 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 70 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MCM2 minichromosome maintenance complex component 2 JBrowse link 3 131,950,887 131,974,641 RGD:9068941
RGD:7240710
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DMXL2 Dmx like 2 JBrowse link 15 48,719,144 48,890,793 RGD:9068941
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 6 32,413,441 32,428,550 RGD:9068941
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 12 81,070,130 81,310,857 RGD:9068941
RGD:7240710
Autosomal Dominant Nonsyndromic Deafness 74 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDE1C phosphodiesterase 1C JBrowse link 7 32,477,361 33,030,078 RGD:9068941
RGD:7240710
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COCH cochlin JBrowse link 14 29,848,611 29,864,662 RGD:7240710
RGD:9068941
autosomal dominant Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 4 6,345,960 6,379,094 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 JBrowse link 2A 72,113,863 72,143,524 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 10 70,391,661 70,810,240 RGD:9068941
G CLIC5 chloride intracellular channel 5 JBrowse link 6 46,753,007 46,934,100 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 1 35,229,660 35,234,821 RGD:9068941
G GPSM2 G protein signaling modulator 2 JBrowse link 1 110,418,940 110,474,066 RGD:9068941
G LOXHD1 lipoxygenase homology domains 1 JBrowse link 18 43,290,361 43,469,923 RGD:9068941
G MYH9 myosin heavy chain 9 JBrowse link 22 35,039,461 35,121,618 RGD:9068941
G OTOF otoferlin JBrowse link 2A 26,548,972 26,566,606 RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 7 112,363,119 112,418,633 RGD:9068941
autosomal recessive nonsyndromic deafness 100 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 JBrowse link 5 104,175,883 104,258,688 RGD:7240710
RGD:9068941
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 5 147,324,358 147,337,633 RGD:7240710
RGD:9068941
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 12 16,013,270 16,184,203 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLIC5 chloride intracellular channel 5 JBrowse link 6 46,753,007 46,934,100 RGD:7240710
RGD:9068941
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 6 24,973,412 25,099,034 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EPS8 epidermal growth factor receptor pathway substrate 8 JBrowse link 12 16,013,270 16,184,203 RGD:9068941
G EPS8L2 EPS8 like 2 JBrowse link 11 765,685 787,128 RGD:9068941
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 17 75,346,204 75,356,786 RGD:9068941
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 1 64,838,657 65,326,640 RGD:9068941
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 8 93,202,915 93,532,172 RGD:9068941
RGD:7240710
autosomal recessive nonsyndromic deafness 110 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COCH cochlin JBrowse link 14 29,848,611 29,864,662 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZL2 myelin protein zero like 2 JBrowse link 11 117,023,102 117,034,209 RGD:9068941
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 5 44,378,112 44,497,302 RGD:9068941
RGD:7240710
autosomal recessive nonsyndromic deafness 113 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component JBrowse link 19 50,251,835 50,262,600 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GRAP GRB2 related adaptor protein JBrowse link 17 37,038,113 37,152,052 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 115 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPNS2 sphingolipid transporter 2 JBrowse link 17 4,547,588 4,586,562 RGD:7240710
RGD:9068941
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 3 10,611,619 10,979,238 RGD:7240710
RGD:9068941
G C10H10orf105 chromosome 10 C10orf105 homolog JBrowse link 10 70,706,290 70,714,399 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 10 70,391,661 70,810,240 RGD:7240710
RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:9068941
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CATSPER2 cation channel sperm associated 2 JBrowse link 15 40,769,400 40,796,537 RGD:9068941
G STRC stereocilin JBrowse link 15 40,740,196 40,771,092 RGD:7240710
RGD:9068941
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G USH1C USH1 protein network component harmonin JBrowse link 11 17,233,854 17,284,256 RGD:9068941
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G USH1C USH1 protein network component harmonin JBrowse link 11 17,233,854 17,284,256 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OTOG otogelin JBrowse link 11 17,287,150 17,386,100 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYL1 crystallin lambda 1 JBrowse link 13 20,043,630 20,165,344 RGD:9068941
G EEF1AKMT1 EEF1A lysine methyltransferase 1 JBrowse link 13 20,368,837 20,413,832 RGD:9068941
G GJA3 gap junction protein alpha 3 JBrowse link 13 19,780,656 19,803,446 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:7240710
RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 1 35,229,660 35,234,821 RGD:7240710
RGD:9068941
G GJB4 gap junction protein beta 4 JBrowse link 1 35,208,367 35,210,949 RGD:9068941
G GJB6 gap junction protein beta 6 JBrowse link 13 19,864,208 19,874,385 RGD:7240710
RGD:9068941
G IFT88 intraflagellar transport 88 JBrowse link 13 20,205,881 20,331,204 RGD:9068941
G IL17D interleukin 17D JBrowse link 13 20,343,474 20,362,679 RGD:9068941
G XPO4 exportin 4 JBrowse link 13 20,418,609 20,542,369 RGD:9068941
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:9068941
G GJB6 gap junction protein beta 6 JBrowse link 13 19,864,208 19,874,385 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO7A myosin VIIA JBrowse link 11 75,834,409 75,908,297 RGD:7240710
RGD:9068941
G TRPC6 transient receptor potential cation channel subfamily C member 6 JBrowse link 11 99,918,382 100,051,110 RGD:9068941
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OTOA otoancorin JBrowse link 16 88,025,201 88,094,381 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCDH15 protocadherin related 15 JBrowse link 10 52,661,035 54,456,043 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RDX radixin JBrowse link 11 108,921,477 109,005,557 RGD:7240710
RGD:9068941
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 4 43,063,313 43,200,436 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GAB1 GRB2 associated binding protein 1 JBrowse link 4 146,996,936 147,134,576 RGD:9068941
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 5 14,417,910 14,655,906 RGD:9068941
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLDN14 claudin 14 JBrowse link 21 36,186,950 36,206,412 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO15A myosin XVA JBrowse link 17 38,033,646 38,091,376 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO3A myosin IIIA JBrowse link 10 26,469,742 26,754,989 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WHRN whirlin JBrowse link 9 113,863,872 113,966,758 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDC14A cell division cycle 14A JBrowse link 1 101,716,711 101,892,619 RGD:9068941
RGD:7240710
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ESRRB estrogen related receptor beta JBrowse link 14 75,659,836 76,264,827 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ESPN espin JBrowse link 1 6,440,951 6,475,253 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO6 myosin VI JBrowse link 6 76,882,994 77,050,015 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HGF hepatocyte growth factor JBrowse link 7 87,325,741 87,396,850 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXI1 forkhead box I1 JBrowse link 5 172,228,840 172,232,692 RGD:7240710
RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 1 139,312,371 139,345,145 RGD:7240710
RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 7 112,363,119 112,418,633 RGD:7240710
RGD:9068941
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 3 125,996,018 126,032,041 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADCY1 adenylate cyclase 1 JBrowse link 7 46,354,645 46,501,637 RGD:7240710
RGD:9068941
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 15 75,998,797 76,025,485 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MARVELD2 MARVEL domain containing 2 JBrowse link 5 46,128,408 46,155,981 RGD:7240710
RGD:9068941
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 6 33,849,885 33,879,635 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDZD7 PDZ domain containing 7 JBrowse link 10 101,085,130 101,107,949 RGD:9068941
RGD:7240710
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PJVK pejvakin JBrowse link 2B 183,413,375 183,423,503 RGD:7240710
RGD:9068941
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 7 108,088,197 108,178,578 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANAPC15 anaphase promoting complex subunit 15 JBrowse link 11 70,413,270 70,416,495 RGD:9068941
G LOC100967430 leucine-rich repeat-containing protein 51 JBrowse link 11 70,384,068 70,400,764 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCDC2 doublecortin domain containing 2 JBrowse link 6 24,337,188 24,520,082 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LHFPL5 LHFPL tetraspan subfamily member 5 JBrowse link 6 36,569,008 36,589,102 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G S1PR2 sphingosine-1-phosphate receptor 2 JBrowse link 19 10,436,094 10,443,955 RGD:9068941
RGD:7240710
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO7A myosin VIIA JBrowse link 11 75,834,409 75,908,297 RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 7 112,363,119 112,418,633 RGD:9068941
G TMC1 transmembrane channel like 1 JBrowse link 9 71,310,247 71,620,858 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNPT1 polyribonucleotide nucleotidyltransferase 1 JBrowse link 2A 56,931,110 56,986,408 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MSRB3 methionine sulfoxide reductase B3 JBrowse link 12 23,932,605 24,142,666 RGD:7240710
RGD:9068941
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 19 41,671,236 41,675,697 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOXHD1 lipoxygenase homology domains 1 JBrowse link 18 43,290,361 43,469,923 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TPRN taperin JBrowse link 9 137,220,640 137,229,053 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMPRSS3 transmembrane serine protease 3 JBrowse link 21 41,997,642 42,022,740 RGD:7240710
RGD:9068941
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 12 81,070,130 81,310,857 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 84B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OTOGL otogelin like JBrowse link 12 80,845,643 81,005,480 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCNF cyclin F JBrowse link 16 2,526,035 2,558,265 RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 16 2,581,835 2,603,919 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELMOD3 ELMO domain containing 3 JBrowse link 2A 86,958,874 86,994,897 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 16 75,544,996 75,565,947 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COQ8A coenzyme Q8A JBrowse link 1 207,390,883 207,436,008 RGD:9068941
G IGSF6 immunoglobulin superfamily member 6 JBrowse link 16 87,989,104 88,000,997 RGD:9068941
G METTL9 methyltransferase like 9 JBrowse link 16 87,947,539 88,005,316 RGD:9068941
G OTOA otoancorin JBrowse link 16 88,025,201 88,094,381 RGD:9068941
G OTOF otoferlin JBrowse link 2A 26,548,972 26,566,606 RGD:7240710
RGD:9068941
G RAI1 retinoic acid induced 1 JBrowse link 17 38,431,946 38,491,164 RGD:9068941
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SERPINB6 serpin family B member 6 JBrowse link 6 2,873,790 2,897,074 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CABP2 calcium binding protein 2 JBrowse link 11 66,189,323 66,193,993 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 94 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link 11 77,117,668 77,255,037 RGD:7240710
RGD:9068941
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 7 121,365,429 121,468,159 RGD:7240710
RGD:9068941
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 21 44,087,591 44,299,107 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 99 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM132E transmembrane protein 132E JBrowse link 17 22,441,240 22,500,635 RGD:7240710
RGD:9068941
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC9A1 solute carrier family 9 member A1 JBrowse link 1 27,414,937 27,475,089 RGD:7240710
RGD:9068941
Ayme-Gripp syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAF MAF bZIP transcription factor JBrowse link 16 79,618,156 79,624,460 RGD:7240710
RGD:9068941
Bart-Pumphrey syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:7240710
RGD:9068941
Bartter disease type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BSND barttin CLCNK type accessory beta subunit JBrowse link 1 55,869,495 55,879,674 RGD:7240710
RGD:9068941
Bartter disease type 4b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCNKA chloride voltage-gated channel Ka JBrowse link 1 16,152,022 16,163,777 RGD:7240710
RGD:9068941
G CLCNKB chloride voltage-gated channel Kb JBrowse link 1 16,174,570 16,188,166 RGD:7240710
RGD:9068941
Behr syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 201,207,609 201,312,358 RGD:9068941
RGD:7240710
Bilateral Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO3A myosin IIIA JBrowse link 10 26,469,742 26,754,989 RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 7 112,363,119 112,418,633 RGD:9068941
Bjornstad syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100988698 mitochondrial chaperone BCS1 JBrowse link 2B 224,512,221 224,516,856 RGD:7240710
RGD:9068941
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 8 144,111,766 144,114,392 RGD:9068941
G SLC52A3 solute carrier family 52 member 3 JBrowse link 20 739,556 755,486 RGD:9068941
Brown-Vialetto-Van Laere Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC52A2 solute carrier family 52 member 2 JBrowse link 8 144,111,766 144,114,392 RGD:9068941
G SLC52A3 solute carrier family 52 member 3 JBrowse link 20 739,556 755,486 RGD:7240710
RGD:9068941
Brown-Vialetto-Van Laere Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADCK5 aarF domain containing kinase 5 JBrowse link 8 144,131,167 144,149,264 RGD:9068941
G BOP1 BOP1 ribosomal biogenesis factor JBrowse link 8 144,015,518 144,043,278 RGD:9068941
G CPSF1 cleavage and polyadenylation specific factor 1 JBrowse link 8 144,149,253 144,166,183 RGD:9068941
G CYHR1 cysteine and histidine rich 1 JBrowse link 8 144,205,966 144,221,599 RGD:9068941
G DGAT1 diacylglycerol O-acyltransferase 1 JBrowse link 8 144,069,450 144,080,155 RGD:9068941
G EXOSC4 exosome component 4 JBrowse link 8 143,837,255 143,839,292 RGD:9068941
G FBXL6 F-box and leucine rich repeat protein 6 JBrowse link 8 144,108,369 144,111,073 RGD:9068941
G FOXH1 forkhead box H1 JBrowse link 8 144,229,228 144,231,829 RGD:9068941
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 8 143,840,524 143,844,855 RGD:9068941
G GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 8 143,749,331 143,752,180 RGD:9068941
G HGH1 HGH1 homolog JBrowse link 8 143,882,676 143,897,001 RGD:9068941
G HSF1 heat shock transcription factor 1 JBrowse link 8 144,062,137 144,067,725 RGD:9068941
G KIFC2 kinesin family member C2 JBrowse link 8 144,221,125 144,229,614 RGD:9068941
G LOC100995886 cytochrome c1, heme protein, mitochondrial JBrowse link 8 143,853,354 143,855,847 RGD:9068941
G MAF1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 8 143,862,698 143,865,895 RGD:9068941
G MROH1 maestro heat like repeat family member 1 JBrowse link 8 143,904,956 144,015,354 RGD:9068941
G OPLAH 5-oxoprolinase, ATP-hydrolysing JBrowse link 8 143,809,380 143,822,058 RGD:9068941
G PARP10 poly(ADP-ribose) polymerase family member 10 JBrowse link 8 143,735,487 143,744,050 RGD:9068941
G PLEC plectin JBrowse link 8 143,673,672 143,711,211 RGD:9068941
G SCRT1 scratch family transcriptional repressor 1 JBrowse link 8 144,085,612 144,089,875 RGD:9068941
G SCX scleraxis bHLH transcription factor JBrowse link 8 144,018,463 144,021,487 RGD:9068941
G SHARPIN SHANK associated RH domain interactor JBrowse link 8 143,856,956 143,862,602 RGD:9068941
G SLC39A4 solute carrier family 39 member 4 JBrowse link 8 144,169,089 144,173,517 RGD:9068941
G SLC52A2 solute carrier family 52 member 2 JBrowse link 8 144,111,766 144,114,392 RGD:7240710
RGD:9068941
G SPATC1 spermatogenesis and centriole associated 1 JBrowse link 8 143,770,675 143,805,457 RGD:9068941
G TMEM249 transmembrane protein 249 JBrowse link 8 144,106,167 144,108,545 RGD:9068941
G TONSL tonsoku like, DNA repair protein JBrowse link 8 144,185,674 144,200,930 RGD:9068941
G VPS28 VPS28 subunit of ESCRT-I JBrowse link 8 144,180,081 144,185,173 RGD:9068941
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADNP2 ADNP homeobox 2 JBrowse link 18 77,080,446 77,103,098 RGD:9068941
G ATP9B ATPase phospholipid transporting 9B (putative) JBrowse link 18 75,686,430 75,988,106 RGD:9068941
G CTDP1 CTD phosphatase subunit 1 JBrowse link 18 76,646,641 76,720,928 RGD:9068941
G GALR1 galanin receptor 1 JBrowse link 18 73,899,995 73,917,849 RGD:9068941
G HSBP1L1 heat shock factor binding protein 1 like 1 JBrowse link 18 76,916,883 76,934,867 RGD:9068941
G MBP myelin basic protein JBrowse link 18 73,628,537 73,781,956 RGD:9068941
G NFATC1 nuclear factor of activated T cells 1 JBrowse link 18 76,020,443 76,133,790 RGD:9068941
G PARD6G par-6 family cell polarity regulator gamma JBrowse link 18 77,121,496 77,207,613 RGD:9068941
G RBFA ribosome binding factor A JBrowse link 18 76,997,888 77,013,869 RGD:9068941
G SALL3 spalt like transcription factor 3 JBrowse link 18 75,602,465 75,620,927 RGD:9068941
G SLC66A2 solute carrier family 66 member 2 JBrowse link 18 76,869,584 76,915,357 RGD:9068941
G TXNL4A thioredoxin like 4A JBrowse link 18 76,937,460 76,952,428 RGD:7240710
RGD:9068941
G ZNF236 zinc finger protein 236 JBrowse link 18 73,474,631 73,620,028 RGD:9068941
G ZNF516 zinc finger protein 516 JBrowse link 18 73,021,762 73,150,904 RGD:9068941
camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:7240710
RGD:9068941
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 19 47,357,926 47,383,736 RGD:7240710
RGD:9068941
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 1 200,703,860 200,756,849 RGD:7240710
RGD:9068941
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PMP22 peripheral myelin protein 22 JBrowse link 17 41,038,286 41,073,872 RGD:9068941
RGD:7240710
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 1 140,603,609 140,631,273 RGD:7240710
RGD:9068941
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 129,550,287 129,586,271 RGD:7240710
RGD:9068941
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 129,591,231 129,605,214 RGD:9068941
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 107,094,898 107,117,117 RGD:7240710
RGD:9068941
Chudley-Mccullough syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCC1 chloride channel CLIC like 1 JBrowse link 1 110,474,158 110,505,626 RGD:9068941
G GPSM2 G protein signaling modulator 2 JBrowse link 1 110,418,940 110,474,066 RGD:7240710
RGD:9068941
Cochlear Deafness with Myopia and Intellectual Impairment term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLITRK6 SLIT and NTRK like family member 6 JBrowse link 13 86,160,711 86,167,332 RGD:9068941
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 3 71,037,671 71,265,445 RGD:9068941
RGD:7240710
Combined Cerebellar and Peripheral Ataxia 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 13 95,975,607 96,114,256 RGD:7240710
RGD:9068941
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LHX3 LIM homeobox 3 JBrowse link 9 136,252,974 136,260,366 RGD:7240710
RGD:9068941
Conductive Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,849,885 33,879,635 RGD:9068941
G EYA1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 8 69,387,769 69,551,829 RGD:9068941
G NOG noggin JBrowse link 17 55,532,208 55,533,782 RGD:9068941
Cone-Rod Dystrophy and Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP78 centrosomal protein 78 JBrowse link 9 77,086,877 77,122,288 RGD:9068941
RGD:7240710
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP250 centrosomal protein 250 JBrowse link 20 32,903,441 32,959,715 RGD:7240710
RGD:9068941
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 3 160,933,257 160,961,723 RGD:7240710
RGD:9068941
Congenital Deafness 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 11 68,197,962 68,207,036 RGD:7240710
RGD:9068941
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 8 16,369,937 16,394,284 RGD:9068941
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 19 46,025,814 46,128,319 RGD:9068941
RGD:7240710
corneal dystrophy-perceptive deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC4A11 solute carrier family 4 member 11 JBrowse link 20 3,074,434 3,086,445 RGD:7240710
RGD:9068941
craniofacial-deafness-hand syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PAX3 paired box 3 JBrowse link 2B 228,022,453 228,121,850 RGD:7240710
RGD:9068941
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 8 97,837,674 98,700,162 RGD:9068941
D-bifunctional protein deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link 5 120,628,605 120,713,859 RGD:7240710
RGD:9068941
Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AK2 adenylate kinase 2 JBrowse link 1 33,480,074 33,508,697 RGD:9068941
G AQP4 aquaporin 4 JBrowse link 18 23,713,141 23,726,919 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 11 27,520,306 27,589,239 RGD:9068941
G CACNA1D calcium voltage-gated channel subunit alpha1 D JBrowse link 3 54,654,121 54,972,755 RGD:9068941
G CDC14A cell division cycle 14A JBrowse link 1 101,716,711 101,892,619 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 10 70,391,661 70,810,240 RGD:9068941
G CLCNKA chloride voltage-gated channel Ka JBrowse link 1 16,152,022 16,163,777 RGD:9068941
G CLDN14 claudin 14 JBrowse link 21 36,186,950 36,206,412 RGD:9068941
G COCH cochlin JBrowse link 14 29,848,611 29,864,662 RGD:9068941
G CRYM crystallin mu JBrowse link 16 21,290,477 21,310,446 RGD:9068941
G EPS8 epidermal growth factor receptor pathway substrate 8 JBrowse link 12 16,013,270 16,184,203 RGD:9068941
G ESPN espin JBrowse link 1 6,440,951 6,475,253 RGD:9068941
G ESR2 estrogen receptor 2 JBrowse link 14 63,064,397 63,175,303 RGD:9068941
G GJB1 gap junction protein beta 1 JBrowse link X 70,538,213 70,548,917 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 1 35,229,660 35,234,821 RGD:9068941
G GPSM2 G protein signaling modulator 2 JBrowse link 1 110,418,940 110,474,066 RGD:9068941
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 JBrowse link 4 43,063,313 43,200,436 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G ILDR1 immunoglobulin like domain containing receptor 1 JBrowse link 3 125,996,018 126,032,041 RGD:9068941
G JAG1 jagged canonical Notch ligand 1 JBrowse link 20 10,582,094 10,618,383 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 1 139,312,371 139,345,145 RGD:9068941
G KCNK1 potassium two pore domain channel subfamily K member 1 JBrowse link 1 214,178,637 214,237,175 RGD:9068941
G KCNK10 potassium two pore domain channel subfamily K member 10 JBrowse link 14 88,152,288 88,298,811 RGD:9068941
G KCNK3 potassium two pore domain channel subfamily K member 3 JBrowse link 2A 26,780,475 26,819,123 RGD:9068941
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 11 2,498,001 2,902,198 RGD:9068941
G LOXHD1 lipoxygenase homology domains 1 JBrowse link 18 43,290,361 43,469,923 RGD:9068941
G MARVELD2 MARVEL domain containing 2 JBrowse link 5 46,128,408 46,155,981 RGD:9068941
G MECP2 methyl-CpG binding protein 2 JBrowse link X 153,458,248 153,527,854 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 RGD:9068941
G MYO7A myosin VIIA JBrowse link 11 75,834,409 75,908,297 RGD:9068941
G OTOF otoferlin JBrowse link 2A 26,548,972 26,566,606 RGD:9068941
G OTOG otogelin JBrowse link 11 17,287,150 17,386,100 RGD:9068941
G PAX3 paired box 3 JBrowse link 2B 228,022,453 228,121,850 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 10 52,661,035 54,456,043 RGD:9068941
G PJVK pejvakin JBrowse link 2B 183,413,375 183,423,503 RGD:9068941
G POLD1 DNA polymerase delta 1, catalytic subunit JBrowse link 19 56,251,356 56,284,263 RGD:9068941
G POU3F4 POU class 3 homeobox 4 JBrowse link X 82,666,699 82,668,337 RGD:9068941
G POU4F3 POU class 4 homeobox 3 JBrowse link 5 147,800,924 147,802,420 RGD:9068941
G PTPRQ protein tyrosine phosphatase receptor type Q JBrowse link 12 81,070,130 81,310,857 RGD:9068941
G RET ret proto-oncogene JBrowse link 10 43,256,437 43,286,340 RGD:9068941
G SERAC1 serine active site containing 1 JBrowse link 6 158,068,838 158,126,603 RGD:9068941
G SLC19A2 solute carrier family 19 member 2 JBrowse link 1 148,668,687 148,690,713 RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 7 112,363,119 112,418,633 RGD:9068941
G SLC26A5 solute carrier family 26 member 5 JBrowse link 7 108,088,197 108,178,578 RGD:9068941
G SMAD4 SMAD family member 4 JBrowse link 18 47,692,311 47,802,530 RGD:9068941
G TMC1 transmembrane channel like 1 JBrowse link 9 71,310,247 71,620,858 RGD:9068941
G TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 JBrowse link 12 83,316,647 83,761,761 RGD:9068941
G USH1G USH1 protein network component sans JBrowse link 17 74,417,766 74,424,794 RGD:9068941
G USH2A usherin JBrowse link 1 196,048,086 196,850,216 RGD:9068941
G WHRN whirlin JBrowse link 9 113,863,872 113,966,758 RGD:9068941
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 7 98,031,816 98,085,290 RGD:9068941
G PEX1 peroxisomal biogenesis factor 1 JBrowse link 7 98,081,018 98,122,335 RGD:7240710
RGD:9068941
G PEX6 peroxisomal biogenesis factor 6 JBrowse link 6 43,849,802 43,865,618 RGD:9068941
Deafness, Aminoglycoside-Induced term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase JBrowse link 22 45,399,506 45,421,439 RGD:7240710
RGD:9068941
Deafness, Congenital Heart Defects, and Posterior Embryotoxon term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JAG1 jagged canonical Notch ligand 1 JBrowse link 20 10,582,094 10,618,383 RGD:9068941
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 107,094,898 107,117,117 RGD:9068941
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO15A myosin XVA JBrowse link 17 38,033,646 38,091,376 RGD:9068941
Deafness, X-Linked 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 107,094,898 107,117,117 RGD:7240710
RGD:9068941
Deafness, X-Linked 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMPX small muscle protein, X-linked JBrowse link X 21,719,905 21,744,977 RGD:7240710
RGD:9068941
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 129,550,287 129,586,271 RGD:7240710
RGD:9068941
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 129,591,231 129,605,214 RGD:9068941
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 107,612,289 107,909,373 RGD:7240710
RGD:9068941
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TIMM8A translocase of inner mitochondrial membrane 8A JBrowse link X 100,680,224 100,683,553 RGD:9068941
RGD:7240710
deafness-intellectual disability, Martin-Probst type syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB40AL RAB40A like JBrowse link X 102,540,441 102,541,871 RGD:7240710
RGD:9068941
dilated cardiomyopathy 1J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EYA4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 6 135,116,275 135,405,295 RGD:7240710
RGD:9068941
Distal Renal Tubular Acidosis with Progressive Nerve Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 JBrowse link 2A 72,113,863 72,143,524 RGD:9068941
RGD:7240710
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 JBrowse link 7 143,154,382 143,210,822 RGD:9068941
dominant optic atrophy plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 201,207,609 201,312,358 RGD:7240710
RGD:9068941
Donnai-Barrow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMBRD1 LMBR1 domain containing 1 JBrowse link 6 70,814,770 70,937,082 RGD:9068941
G LRP2 LDL receptor related protein 2 JBrowse link 2B 173,873,454 174,103,911 RGD:7240710
RGD:9068941
DOORS syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBC1D24 TBC1 domain family member 24 JBrowse link 16 2,581,835 2,603,919 RGD:7240710
RGD:9068941
EAST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 1 139,390,549 139,418,311 RGD:9068941
G IGSF8 immunoglobulin superfamily member 8 JBrowse link 1 139,366,220 139,370,711 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 1 139,312,371 139,345,145 RGD:7240710
RGD:9068941
G KCNJ9 potassium inwardly rectifying channel subfamily J member 9 JBrowse link 1 139,356,387 139,365,444 RGD:9068941
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FKBP14 FKBP prolyl isomerase 14 JBrowse link 7 30,758,165 30,772,640 RGD:7240710
RGD:9068941
Epilepsy, Hearing Loss, and Mental Retardation Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPATA5 spermatogenesis associated 5 JBrowse link 4 126,245,508 126,632,165 RGD:7240710
RGD:9068941
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 6 91,664,263 91,737,468 RGD:9068941
Gonadal Dysgenesis, XX Type, with Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link 5 120,628,605 120,713,859 RGD:7240710
RGD:9068941
G PRORP protein only RNase P catalytic subunit JBrowse link 14 34,056,234 34,209,657 RGD:9068941
G RYR1 ryanodine receptor 1 JBrowse link 19 44,099,196 44,256,470 RGD:9068941
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 52,498,202 52,584,731 RGD:9068941
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO5A myosin VA JBrowse link 15 49,572,084 49,699,507 RGD:7240710
RGD:9068941
Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 52,498,202 52,584,731 RGD:7240710
RGD:9068941
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MLPH melanophilin JBrowse link 2B 243,569,782 243,633,177 RGD:7240710
RGD:9068941
G MYO5A myosin VA JBrowse link 15 49,572,084 49,699,507 RGD:9068941
Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANAPC15 anaphase promoting complex subunit 15 JBrowse link 11 70,413,270 70,416,495 RGD:9068941
G APOE apolipoprotein E JBrowse link 19 50,459,906 50,463,490 RGD:9068941
G ARC activity regulated cytoskeleton associated protein JBrowse link 8 142,365,962 142,369,309 RGD:9068941
G BARHL1 BarH like homeobox 1 JBrowse link 9 132,331,662 132,343,116 RGD:9068941
G BCL2L1 BCL2 like 1 JBrowse link 20 29,088,055 29,147,066 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 11 27,520,306 27,589,239 RGD:9068941
G BMP2 bone morphogenetic protein 2 JBrowse link 20 6,546,173 6,558,627 RGD:9068941
G BMP4 bone morphogenetic protein 4 JBrowse link 14 52,821,872 52,828,781 RGD:9068941
G C10H10orf105 chromosome 10 C10orf105 homolog JBrowse link 10 70,706,290 70,714,399 RGD:9068941
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 3 51,524,200 51,638,249 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 10 70,391,661 70,810,240 RGD:9068941
G CHD7 chromodomain helicase DNA binding protein 7 JBrowse link 8 58,816,836 58,945,186 RGD:9068941
G CHSY1 chondroitin sulfate synthase 1 JBrowse link 15 99,186,705 99,259,882 RGD:9068941
G CLCC1 chloride channel CLIC like 1 JBrowse link 1 110,474,158 110,505,626 RGD:9068941
G CLDN14 claudin 14 JBrowse link 21 36,186,950 36,206,412 RGD:9068941
G COCH cochlin JBrowse link 14 29,848,611 29,864,662 RGD:9068941
G COL4A4 collagen type IV alpha 4 chain JBrowse link 2B 233,061,067 233,222,541 RGD:9068941
G COL4A5 collagen type IV alpha 5 chain JBrowse link X 107,908,812 108,166,580 RGD:9068941
G CX3CL1 C-X3-C motif chemokine ligand 1 JBrowse link 16 56,779,065 56,791,760 RGD:9068941
G CX3CR1 C-X3-C motif chemokine receptor 1 JBrowse link 3 39,439,009 39,456,797 RGD:9068941
G DHX30 DExH-box helicase 30 JBrowse link 3 48,833,785 48,858,037 RGD:9068941
G DIAPH1 diaphanous related formin 1 JBrowse link 5 142,990,248 143,092,558 RGD:9068941
G DNMT1 DNA methyltransferase 1 JBrowse link 19 10,342,478 10,390,397 RGD:9068941
G DSPP dentin sialophosphoprotein JBrowse link 4 90,630,300 90,635,681 RGD:9068941
G ERCC6 ERCC excision repair 6, chromatin remodeling factor RGD:9068941
G ESR2 estrogen receptor 2 JBrowse link 14 63,064,397 63,175,303 RGD:9068941
G ESRRB estrogen related receptor beta JBrowse link 14 75,659,836 76,264,827 RGD:9068941
G FOXI1 forkhead box I1 JBrowse link 5 172,228,840 172,232,692 RGD:9068941
G GJA1 gap junction protein alpha 1 JBrowse link 6 123,348,744 123,360,887 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:9068941
G GJB6 gap junction protein beta 6 JBrowse link 13 19,864,208 19,874,385 RGD:9068941
G GPSM2 G protein signaling modulator 2 JBrowse link 1 110,418,940 110,474,066 RGD:9068941
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 JBrowse link 4 43,063,313 43,200,436 RGD:9068941
G GSDME gasdermin E JBrowse link 7 24,977,838 25,039,525 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 7 87,325,741 87,396,850 RGD:9068941
G IL10 interleukin 10 JBrowse link 1 186,648,289 186,653,155 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 1 139,312,371 139,345,145 RGD:9068941
G KCNJ9 potassium inwardly rectifying channel subfamily J member 9 JBrowse link 1 139,356,387 139,365,444 RGD:9068941
G LHFPL5 LHFPL tetraspan subfamily member 5 JBrowse link 6 36,569,008 36,589,102 RGD:9068941
G LMX1A LIM homeobox transcription factor 1 alpha JBrowse link 1 144,424,654 144,579,161 RGD:9068941
G LOC100967430 leucine-rich repeat-containing protein 51 JBrowse link 11 70,384,068 70,400,764 RGD:9068941
G LOXHD1 lipoxygenase homology domains 1 JBrowse link 18 43,290,361 43,469,923 RGD:9068941
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 JBrowse link 5 58,745,573 58,826,959 RGD:9068941
G MARVELD2 MARVEL domain containing 2 JBrowse link 5 46,128,408 46,155,981 RGD:9068941
G MECP2 methyl-CpG binding protein 2 JBrowse link X 153,458,248 153,527,854 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 RGD:9068941
G MSRB3 methionine sulfoxide reductase B3 JBrowse link 12 23,932,605 24,142,666 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 1 11,766,334 11,785,645 RGD:9068941
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 1 217,352,707 217,461,313 RGD:9068941
G MYH14 myosin heavy chain 14 JBrowse link 19 56,076,709 56,178,650 RGD:9068941
G MYH9 myosin heavy chain 9 JBrowse link 22 35,039,461 35,121,618 RGD:9068941
G MYO15A myosin XVA JBrowse link 17 38,033,646 38,091,376 RGD:9068941
G MYO3A myosin IIIA JBrowse link 10 26,469,742 26,754,989 RGD:9068941
G MYO6 myosin VI JBrowse link 6 76,882,994 77,050,015 RGD:9068941
G MYO7A myosin VIIA JBrowse link 11 75,834,409 75,908,297 RGD:9068941
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,324,553 152,362,931 RGD:9068941
G NTF3 neurotrophin 3 JBrowse link 12 5,470,093 5,534,300 RGD:9068941
G NUMA1 nuclear mitotic apparatus protein 1 JBrowse link 11 70,307,847 70,384,425 RGD:9068941
G OTOF otoferlin JBrowse link 2A 26,548,972 26,566,606 RGD:9068941
G OTOG otogelin JBrowse link 11 17,287,150 17,386,100 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 10 52,661,035 54,456,043 RGD:9068941
G PDE5A phosphodiesterase 5A JBrowse link 4 122,832,175 122,966,636 RGD:9068941
G PJVK pejvakin JBrowse link 2B 183,413,375 183,423,503 RGD:9068941
G PLS1 plastin 1 JBrowse link 3 147,221,909 147,338,600 RGD:9068941
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 131,265,750 131,285,881 RGD:9068941
G POU3F4 POU class 3 homeobox 4 JBrowse link X 82,666,699 82,668,337 RGD:9068941
G PRKG1 protein kinase cGMP-dependent 1 JBrowse link 10 49,778,821 51,069,314 RGD:9068941
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 JBrowse link 2B 183,393,819 183,413,174 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 107,094,898 107,117,117 RGD:9068941
G PSAP prosaposin JBrowse link 10 70,810,591 70,845,593 RGD:9068941
G PTPRQ protein tyrosine phosphatase receptor type Q JBrowse link 12 81,070,130 81,310,857 RGD:9068941
G PTPRS protein tyrosine phosphatase receptor type S JBrowse link 19 5,167,338 5,254,343 RGD:9068941
G PTRH2 peptidyl-tRNA hydrolase 2 JBrowse link 17 58,605,850 58,615,804 RGD:9068941
G RDX radixin JBrowse link 11 108,921,477 109,005,557 RGD:9068941
G RPGR retinitis pigmentosa GTPase regulator JBrowse link X 38,426,895 38,485,140 RGD:9068941
G SF3B4 splicing factor 3b subunit 4 JBrowse link 1 128,924,317 128,929,610 RGD:9068941
G SH3PXD2B SH3 and PX domains 2B JBrowse link 5 174,599,996 174,719,951 RGD:9068941
G SIX1 SIX homeobox 1 JBrowse link 14 59,515,324 59,518,740 RGD:9068941
G SLC12A2 solute carrier family 12 member 2 JBrowse link 5 129,260,476 129,364,563 RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 7 112,363,119 112,418,633 RGD:9068941
G SLC26A5 solute carrier family 26 member 5 JBrowse link 7 108,088,197 108,178,578 RGD:9068941
G SLC29A3 solute carrier family 29 member 3 JBrowse link 10 70,314,373 70,358,482 RGD:9068941
G SLC33A1 solute carrier family 33 member 1 JBrowse link 3 160,933,257 160,961,723 RGD:9068941
G SMPX small muscle protein, X-linked JBrowse link X 21,719,905 21,744,977 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 21 31,411,702 31,419,432 RGD:9068941
G STAT1 signal transducer and activator of transcription 1 JBrowse link 2B 196,186,906 196,232,280 RGD:9068941
G TJP2 tight junction protein 2 JBrowse link 9 67,865,958 68,020,569 RGD:9068941
G TLR2 toll like receptor 2 JBrowse link 4 157,848,058 157,870,324 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 9 117,180,250 117,193,510 RGD:9068941
G TMC1 transmembrane channel like 1 JBrowse link 9 71,310,247 71,620,858 RGD:9068941
G TMPRSS3 transmembrane serine protease 3 JBrowse link 21 41,997,642 42,022,740 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
G UCP2 uncoupling protein 2 JBrowse link 11 72,354,529 72,363,185 RGD:9068941
G UCP3 uncoupling protein 3 JBrowse link 11 72,380,180 72,389,274 RGD:9068941
G USH1C USH1 protein network component harmonin JBrowse link 11 17,233,854 17,284,256 RGD:9068941
G USH1G USH1 protein network component sans JBrowse link 17 74,417,766 74,424,794 RGD:9068941
G USH2A usherin JBrowse link 1 196,048,086 196,850,216 RGD:9068941
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 4 6,345,960 6,379,094 RGD:9068941
G WHRN whirlin JBrowse link 9 113,863,872 113,966,758 RGD:9068941
Hearing Loss, Cisplatin-Induced term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACYP2 acylphosphatase 2 JBrowse link 2A 55,025,169 55,603,396 RGD:9068941
G CAMK2A calcium/calmodulin dependent protein kinase II alpha JBrowse link 5 151,649,062 151,719,373 RGD:9068941
G CAMK2B calcium/calmodulin dependent protein kinase II beta JBrowse link 7 45,001,240 45,110,499 RGD:9068941
G CAT catalase JBrowse link 11 34,289,603 34,323,160 RGD:9068941
G COMT catechol-O-methyltransferase JBrowse link 22 18,375,434 18,402,387 RGD:9068941
G GSK3B glycogen synthase kinase 3 beta JBrowse link 3 123,856,047 124,126,747 RGD:9068941
G TPMT thiopurine S-methyltransferase JBrowse link 6 18,330,000 18,355,201 RGD:9068941
Hearing Loss, Noise-Induced term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARC activity regulated cytoskeleton associated protein JBrowse link 8 142,365,962 142,369,309 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 11 27,520,306 27,589,239 RGD:9068941
G CAT catalase JBrowse link 11 34,289,603 34,323,160 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CCR2 C-C motif chemokine receptor 2 JBrowse link 3 47,361,118 47,368,312 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 10 70,391,661 70,810,240 RGD:9068941
G CDKN1A cyclin dependent kinase inhibitor 1A JBrowse link 6 37,436,963 37,445,599 RGD:9068941
G CFI complement factor I JBrowse link 4 112,804,645 112,865,581 RGD:9068941
G CNTN1 contactin 1 JBrowse link 12 48,492,558 48,877,396 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:9068941
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 128,003,736 128,009,696 RGD:9068941
G HIF1A hypoxia inducible factor 1 subunit alpha JBrowse link 14 60,552,374 60,604,885 RGD:9068941
G ICAM1 intercellular adhesion molecule 1 JBrowse link 19 10,484,414 10,500,605 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 21 34,187,482 34,252,573 RGD:9068941
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 11 2,498,001 2,902,198 RGD:9068941
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 1 41,396,117 41,452,780 RGD:9068941
G MMP7 matrix metallopeptidase 7 JBrowse link 11 100,960,107 100,970,355 RGD:9068941
G NOB1 NIN1 (RPN12) binding protein 1 homolog JBrowse link 16 69,506,425 69,517,932 RGD:9068941
G OGG1 8-oxoguanine DNA glycosylase JBrowse link 3 9,940,955 9,972,658 RGD:9068941
G PON2 paraoxonase 2 JBrowse link 7 100,950,074 100,980,433 RGD:9068941
G PROC protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 2B 128,083,794 128,094,625 RGD:9068941
G PTGER4 prostaglandin E receptor 4 JBrowse link 5 74,731,470 74,745,121 RGD:9068941
G SELL selectin L JBrowse link 1 148,895,373 148,916,393 RGD:9068941
G SLC26A5 solute carrier family 26 member 5 JBrowse link 7 108,088,197 108,178,578 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 21 31,411,702 31,419,432 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 6 162,576,082 162,589,960 RGD:9068941
G SRC SRC proto-oncogene, non-receptor tyrosine kinase JBrowse link 20 34,822,287 34,841,523 RGD:9068941
G TAOK1 TAO kinase 1 JBrowse link 17 27,737,904 27,898,436 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
HID Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:7240710
RGD:9068941
high myopia-sensorineural deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLITRK6 SLIT and NTRK like family member 6 JBrowse link 13 86,160,711 86,167,332 RGD:7240710
RGD:9068941
High-Frequency Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
histiocytosis-lymphadenopathy plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC29A3 solute carrier family 29 member 3 JBrowse link 10 70,314,373 70,358,482 RGD:7240710
RGD:9068941
hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACBD7 acyl-CoA binding domain containing 7 JBrowse link 10 15,669,766 15,686,078 RGD:9068941
G AKR1E2 aldo-keto reductase family 1 member E2 JBrowse link 10 4,850,001 4,872,215 RGD:9068941
G ANKRD16 ankyrin repeat domain 16 JBrowse link 10 5,887,294 5,915,357 RGD:9068941
G ARL5B ADP ribosylation factor like GTPase 5B JBrowse link 10 19,311,639 19,332,216 RGD:9068941
G ASB13 ankyrin repeat and SOCS box containing 13 JBrowse link 10 5,665,422 5,679,328 RGD:9068941
G ATP5F1C ATP synthase F1 subunit gamma JBrowse link 10 7,801,433 7,821,097 RGD:9068941
G BEND7 BEN domain containing 7 JBrowse link 10 13,769,617 13,856,204 RGD:9068941
G C1QL3 complement C1q like 3 JBrowse link 10 17,103,848 17,116,369 RGD:9068941
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 JBrowse link 10 18,915,315 19,195,226 RGD:9068941
G CALML3 calmodulin like 3 JBrowse link 10 5,550,835 5,553,087 RGD:9068941
G CALML5 calmodulin like 5 JBrowse link 10 5,525,980 5,526,849 RGD:9068941
G CAMK1D calcium/calmodulin dependent protein kinase ID JBrowse link 10 12,471,340 12,809,098 RGD:9068941
G CCDC3 coiled-coil domain containing 3 JBrowse link 10 12,875,678 13,077,658 RGD:9068941
G CDC123 cell division cycle 123 JBrowse link 10 12,186,494 12,241,496 RGD:9068941
G CDNF cerebral dopamine neurotrophic factor JBrowse link 10 15,151,359 15,169,689 RGD:9068941
G CELF2 CUGBP Elav-like family member 2 JBrowse link 10 10,465,313 11,330,504 RGD:9068941
G CUBN cubilin JBrowse link 10 17,415,551 17,719,126 RGD:9068941
G DCLRE1C DNA cross-link repair 1C JBrowse link 10 15,229,515 15,625,331 RGD:9068941
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 10 12,053,943 12,110,691 RGD:9068941
G ECHDC3 enoyl-CoA hydratase domain containing 3 JBrowse link 10 11,727,762 11,750,405 RGD:9068941
G FAM107B family with sequence similarity 107 member B JBrowse link 10 14,850,008 15,107,450 RGD:9068941
G FAM171A1 family with sequence similarity 171 member A1 JBrowse link 10 15,814,643 15,886,708 RGD:9068941
G FBH1 F-box DNA helicase 1 JBrowse link 10 5,915,696 5,962,778 RGD:9068941
G FRMD4A FERM domain containing 4A JBrowse link 10 13,975,765 14,301,636 RGD:9068941
G GATA3 GATA binding protein 3 JBrowse link 10 8,055,853 8,086,271 RGD:7240710
RGD:9068941
G GDI2 GDP dissociation inhibitor 2 JBrowse link 10 5,790,651 5,839,003 RGD:9068941
G HACD1 3-hydroxyacyl-CoA dehydratase 1 JBrowse link 10 18,182,727 18,196,854 RGD:9068941
G HSPA14 heat shock protein family A (Hsp70) member 14 JBrowse link 10 15,169,747 15,204,263 RGD:9068941
G IL15RA interleukin 15 receptor subunit alpha JBrowse link 10 5,977,496 6,003,530 RGD:9068941
G IL2RA interleukin 2 receptor subunit alpha JBrowse link 10 6,037,664 6,086,018 RGD:9068941
G ITGA8 integrin subunit alpha 8 JBrowse link 10 16,114,999 16,321,277 RGD:9068941
G ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 JBrowse link 10 7,713,517 7,762,756 RGD:9068941
G ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 JBrowse link 10 7,570,497 7,677,184 RGD:9068941
G KIN Kin17 DNA and RNA binding protein JBrowse link 10 7,764,233 7,801,350 RGD:9068941
G MCM10 minichromosome maintenance 10 replication initiation factor JBrowse link 10 13,138,824 13,187,992 RGD:9068941
G MINDY3 MINDY lysine 48 deubiquitinase 3 JBrowse link 10 16,377,064 16,459,134 RGD:9068941
G NET1 neuroepithelial cell transforming 1 JBrowse link 10 5,444,213 5,489,509 RGD:9068941
G NMT2 N-myristoyltransferase 2 JBrowse link 10 15,703,478 15,738,643 RGD:9068941
G NSUN6 NOP2/Sun RNA methyltransferase 6 JBrowse link 10 19,196,248 19,304,089 RGD:9068941
G NUDT5 nudix hydrolase 5 JBrowse link 10 12,155,747 12,186,679 RGD:9068941
G OLAH oleoyl-ACP hydrolase JBrowse link 10 15,642,307 15,667,461 RGD:9068941
G OPTN optineurin JBrowse link 10 13,077,345 13,115,773 RGD:9068941
G PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 JBrowse link 10 6,167,841 6,257,263 RGD:9068941
G PHYH phytanoyl-CoA 2-hydroxylase JBrowse link 10 13,250,722 13,634,152 RGD:9068941
G PRKCQ protein kinase C theta JBrowse link 10 6,440,316 6,528,828 RGD:9068941
G PROSER2 proline and serine rich 2 JBrowse link 10 11,808,602 11,866,702 RGD:9068941
G PRPF18 pre-mRNA processing factor 18 JBrowse link 10 13,915,987 13,959,812 RGD:9068941
G PTER phosphotriesterase related JBrowse link 10 17,029,057 17,105,594 RGD:9068941
G RBM17 RNA binding motif protein 17 JBrowse link 10 6,120,488 6,140,085 RGD:9068941
G RPP38 ribonuclease P/MRP subunit p38 JBrowse link 10 15,694,410 15,701,569 RGD:9068941
G RPP38-DT RPP38 divergent transcript JBrowse link 10 15,692,684 15,694,628 RGD:9068941
G RSU1 Ras suppressor protein 1 JBrowse link 10 17,183,859 17,408,233 RGD:9068941
G SEC61A2 SEC61 translocon alpha 2 subunit JBrowse link 10 12,102,536 12,161,092 RGD:9068941
G SEPHS1 selenophosphate synthetase 1 JBrowse link 10 13,649,672 13,679,724 RGD:9068941
G SFMBT2 Scm like with four mbt domains 2 JBrowse link 10 7,167,086 7,419,939 RGD:9068941
G SLC39A12 solute carrier family 39 member 12 JBrowse link 10 18,540,473 18,699,305 RGD:9068941
G ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 JBrowse link 10 17,908,992 18,042,179 RGD:9068941
G STAM signal transducing adaptor molecule JBrowse link 10 18,232,548 18,305,169 RGD:9068941
G SUV39H2 suppressor of variegation 3-9 homolog 2 JBrowse link 10 15,211,360 15,236,272 RGD:9068941
G TAF3 TATA-box binding protein associated factor 3 JBrowse link 10 7,831,826 8,026,345 RGD:9068941
G TASOR2 transcription activation suppressor family member 2 JBrowse link 10 5,710,325 5,789,159 RGD:9068941
G TRDMT1 tRNA aspartic acid methyltransferase 1 JBrowse link 10 17,726,701 17,791,345 RGD:9068941
G TUBAL3 tubulin alpha like 3 JBrowse link 10 5,424,804 5,436,517 RGD:9068941
G UCMA upper zone of growth plate and cartilage matrix associated JBrowse link 10 13,196,867 13,209,494 RGD:9068941
G UCN3 urocortin 3 JBrowse link 10 5,398,032 5,406,168 RGD:9068941
G UPF2 UPF2 regulator of nonsense mediated mRNA decay JBrowse link 10 11,916,893 12,028,126 RGD:9068941
G USP6NL USP6 N-terminal like JBrowse link 10 11,453,137 11,595,083 RGD:9068941
G VIM vimentin JBrowse link 10 17,818,285 17,826,642 RGD:9068941
Ichthyosiform Erythroderma, Corneal Involvement, Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP1B1 adaptor related protein complex 1 subunit beta 1 JBrowse link 22 28,189,831 28,291,808 RGD:9068941
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 12 103,385,911 103,463,264 RGD:7240710
RGD:9068941
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITM2B integral membrane protein 2B JBrowse link 13 48,105,762 48,113,838 RGD:7240710
RGD:9068941
IVIC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SALL4 spalt like transcription factor 4 JBrowse link 20 49,252,320 49,272,973 RGD:7240710
RGD:9068941
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 15 40,057,680 40,223,042 RGD:7240710
RGD:9068941
Keipert Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPC4 glypican 4 JBrowse link X 132,746,525 132,860,422 RGD:9068941
RGD:7240710
LADD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGF10 fibroblast growth factor 10 JBrowse link 5 71,028,324 71,111,713 RGD:7240710
RGD:9068941
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,469,735 121,588,815 RGD:7240710
RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:7240710
RGD:9068941
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 19 56,251,356 56,284,263 RGD:7240710
RGD:9068941
Marshall syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 104,248,931 104,481,259 RGD:7240710
RGD:9068941
Marshall/Stickler Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 104,248,931 104,481,259 RGD:9068941
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 76,795,574 77,083,486 RGD:7240710
RGD:9068941
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXA1 homeobox A1 JBrowse link 7 27,336,737 27,339,747 RGD:9068941
G HOXA2 homeobox A2 JBrowse link 7 27,344,100 27,346,794 RGD:7240710
RGD:9068941
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AMMECR1 AMMECR nuclear protein 1 JBrowse link X 109,772,466 109,896,343 RGD:9068941
RGD:7240710
G RTL9 retrotransposon Gag like 9 JBrowse link X 109,996,979 110,034,123 RGD:9068941
G TMEM164 transmembrane protein 164 JBrowse link X 109,581,210 109,756,087 RGD:9068941
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNPLA8 patatin like phospholipase domain containing 8 JBrowse link 7 113,176,014 113,230,799 RGD:7240710
RGD:9068941
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GFER growth factor, augmenter of liver regeneration JBrowse link 16 2,073,064 2,076,592 RGD:7240710
RGD:9068941
G RYR1 ryanodine receptor 1 JBrowse link 19 44,099,196 44,256,470 RGD:9068941
Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 JBrowse link 6 91,664,263 91,737,468 RGD:9068941
RGD:7240710
Muckle-Wells syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1RN interleukin 1 receptor antagonist JBrowse link 2A 114,061,182 114,077,048 RGD:9068941
G NLRP3 NLR family pyrin domain containing 3 JBrowse link 1 228,505,147 228,537,216 RGD:7240710
RGD:9068941
multiple epiphyseal dysplasia with myopia and deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
Multiple Synostoses Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGF9 fibroblast growth factor 9 JBrowse link 13 21,273,333 21,307,198 RGD:9068941
G GDF5 growth differentiation factor 5 JBrowse link 20 32,882,094 32,903,044 RGD:9068941
G NOG noggin JBrowse link 17 55,532,208 55,533,782 RGD:7240710
RGD:9068941
MYH-9 related disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH9 myosin heavy chain 9 JBrowse link 22 35,039,461 35,121,618 RGD:7240710
RGD:9068941
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD151 CD151 molecule (Raph blood group) JBrowse link 11 895,802 900,289 RGD:7240710
RGD:9068941
nonsyndromic deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTG1 actin gamma 1 JBrowse link 17 81,668,221 81,671,087 RGD:9068941
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component JBrowse link 19 50,251,835 50,262,600 RGD:9068941
G CIB2 calcium and integrin binding family member 2 JBrowse link 15 75,998,797 76,025,485 RGD:9068941
G COCH cochlin JBrowse link 14 29,848,611 29,864,662 RGD:9068941
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,849,885 33,879,635 RGD:9068941
G DCDC2 doublecortin domain containing 2 JBrowse link 6 24,337,188 24,520,082 RGD:9068941
G ESRRB estrogen related receptor beta JBrowse link 14 75,659,836 76,264,827 RGD:9068941
G EYA4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 6 135,116,275 135,405,295 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 1 35,229,660 35,234,821 RGD:9068941
G GJB6 gap junction protein beta 6 JBrowse link 13 19,864,208 19,874,385 RGD:9068941
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 JBrowse link 4 43,063,313 43,200,436 RGD:9068941
G GSDME gasdermin E JBrowse link 7 24,977,838 25,039,525 RGD:9068941
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 16 75,544,996 75,565,947 RGD:9068941
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 1 41,396,117 41,452,780 RGD:9068941
G LOC100967430 leucine-rich repeat-containing protein 51 JBrowse link 11 70,384,068 70,400,764 RGD:9068941
G LOXHD1 lipoxygenase homology domains 1 JBrowse link 18 43,290,361 43,469,923 RGD:9068941
G MARVELD2 MARVEL domain containing 2 JBrowse link 5 46,128,408 46,155,981 RGD:9068941
G MET MET proto-oncogene, receptor tyrosine kinase JBrowse link 7 121,365,429 121,468,159 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 RGD:9068941
G MSRB3 methionine sulfoxide reductase B3 JBrowse link 12 23,932,605 24,142,666 RGD:9068941
G MSX1 msh homeobox 1 JBrowse link 4 4,935,603 4,939,117 RGD:9068941
G MYH9 myosin heavy chain 9 JBrowse link 22 35,039,461 35,121,618 RGD:9068941
G MYO15A myosin XVA JBrowse link 17 38,033,646 38,091,376 RGD:9068941
G MYO3A myosin IIIA JBrowse link 10 26,469,742 26,754,989 RGD:9068941
G MYO6 myosin VI JBrowse link 6 76,882,994 77,050,015 RGD:9068941
G MYO7A myosin VIIA JBrowse link 11 75,834,409 75,908,297 RGD:9068941
G OTOA otoancorin JBrowse link 16 88,025,201 88,094,381 RGD:9068941
G OTOF otoferlin JBrowse link 2A 26,548,972 26,566,606 RGD:9068941
G OTOG otogelin JBrowse link 11 17,287,150 17,386,100 RGD:9068941
G OTOGL otogelin like JBrowse link 12 80,845,643 81,005,480 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 10 52,661,035 54,456,043 RGD:9068941
G PJVK pejvakin JBrowse link 2B 183,413,375 183,423,503 RGD:9068941
G POU3F4 POU class 3 homeobox 4 JBrowse link X 82,666,699 82,668,337 RGD:9068941
G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 JBrowse link 5 104,175,883 104,258,688 RGD:9068941
G RDX radixin JBrowse link 11 108,921,477 109,005,557 RGD:9068941
G SERPINB6 serpin family B member 6 JBrowse link 6 2,873,790 2,897,074 RGD:9068941
G STRC stereocilin JBrowse link 15 40,740,196 40,771,092 RGD:9068941
G SYNE4 spectrin repeat containing nuclear envelope family member 4 JBrowse link 19 41,671,236 41,675,697 RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 16 2,581,835 2,603,919 RGD:9068941
G TGFA transforming growth factor alpha JBrowse link 2A 71,625,196 71,731,461 RGD:9068941
G TGFB3 transforming growth factor beta 3 JBrowse link 14 75,359,505 75,382,412 RGD:9068941
G TMC1 transmembrane channel like 1 JBrowse link 9 71,310,247 71,620,858 RGD:9068941
G TMPRSS3 transmembrane serine protease 3 JBrowse link 21 41,997,642 42,022,740 RGD:9068941
G USH1C USH1 protein network component harmonin JBrowse link 11 17,233,854 17,284,256 RGD:9068941
G USH2A usherin JBrowse link 1 196,048,086 196,850,216 RGD:9068941
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 4 6,345,960 6,379,094 RGD:9068941
Nonsyndromic Deafness, Modifier 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EEF1AKNMT eEF1A lysine and N-terminal methyltransferase JBrowse link 1 150,980,930 151,005,571 RGD:9068941
RGD:7240710
Nonsyndromic Sensorineural Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COCH cochlin JBrowse link 14 29,848,611 29,864,662 RGD:9068941
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,849,885 33,879,635 RGD:9068941
G EYA4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 6 135,116,275 135,405,295 RGD:9068941
G GJA1 gap junction protein alpha 1 JBrowse link 6 123,348,744 123,360,887 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 1 35,229,660 35,234,821 RGD:9068941
G GJB6 gap junction protein beta 6 JBrowse link 13 19,864,208 19,874,385 RGD:9068941
G MYH14 myosin heavy chain 14 JBrowse link 19 56,076,709 56,178,650 RGD:9068941
G MYH9 myosin heavy chain 9 JBrowse link 22 35,039,461 35,121,618 RGD:9068941
G MYO1A myosin IA JBrowse link 12 32,130,054 32,152,335 RGD:9068941
G MYO6 myosin VI JBrowse link 6 76,882,994 77,050,015 RGD:9068941
G MYO7A myosin VIIA JBrowse link 11 75,834,409 75,908,297 RGD:9068941
G PNPT1 polyribonucleotide nucleotidyltransferase 1 JBrowse link 2A 56,931,110 56,986,408 RGD:9068941
G POU4F3 POU class 4 homeobox 3 JBrowse link 5 147,800,924 147,802,420 RGD:9068941
G SIX1 SIX homeobox 1 JBrowse link 14 59,515,324 59,518,740 RGD:9068941
G SLC17A8 solute carrier family 17 member 8 JBrowse link 12 101,342,113 101,405,844 RGD:9068941
G SLC26A5 solute carrier family 26 member 5 JBrowse link 7 108,088,197 108,178,578 RGD:9068941
G TJP2 tight junction protein 2 JBrowse link 9 67,865,958 68,020,569 RGD:9068941
G TMC1 transmembrane channel like 1 JBrowse link 9 71,310,247 71,620,858 RGD:9068941
G TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 JBrowse link 12 83,316,647 83,761,761 RGD:9068941
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 4 6,345,960 6,379,094 RGD:9068941
ocular albinism with sensorineural deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 RGD:9068941
G PAX3 paired box 3 JBrowse link 2B 228,022,453 228,121,850 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:9068941
otospondylomegaepiphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,849,885 33,879,635 RGD:7240710
RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
palmoplantar keratoderma-deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:7240710
RGD:9068941
Paragangliomas with Sensorineural Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SDHD succinate dehydrogenase complex subunit D JBrowse link 11 110,817,016 110,825,977 RGD:9068941
Pendred syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXI1 forkhead box I1 JBrowse link 5 172,228,840 172,232,692 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 1 139,312,371 139,345,145 RGD:9068941
G KCNJ9 potassium inwardly rectifying channel subfamily J member 9 JBrowse link 1 139,356,387 139,365,444 RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 7 112,363,119 112,418,633 RGD:7240710
RGD:9068941
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH14 myosin heavy chain 14 JBrowse link 19 56,076,709 56,178,650 RGD:7240710
RGD:9068941
Perrault syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit JBrowse link 19 6,304,462 6,312,077 RGD:9068941
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link 5 120,628,605 120,713,859 RGD:9068941
G LARS2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 3 46,405,636 46,564,994 RGD:9068941
Perrault Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit JBrowse link 19 6,304,462 6,312,077 RGD:7240710
RGD:9068941
Perrault Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LARS2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 3 46,405,636 46,564,994 RGD:7240710
RGD:9068941
Perrault syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TWNK twinkle mtDNA helicase JBrowse link 10 101,065,082 101,071,407 RGD:7240710
RGD:9068941
Perrault syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 JBrowse link 17 28,426,302 28,428,019 RGD:9068941
RGD:7240710
Presbycusis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTG1 actin gamma 1 JBrowse link 17 81,668,221 81,671,087 RGD:9068941
G AQP4 aquaporin 4 JBrowse link 18 23,713,141 23,726,919 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 11 27,520,306 27,589,239 RGD:9068941
G CACNA1D calcium voltage-gated channel subunit alpha1 D JBrowse link 3 54,654,121 54,972,755 RGD:9068941
G CAT catalase JBrowse link 11 34,289,603 34,323,160 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 10 70,391,661 70,810,240 RGD:9068941
G EDN1 endothelin 1 JBrowse link 6 12,405,538 12,503,545 RGD:9068941
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 128,003,736 128,009,696 RGD:9068941
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 7 82,751,385 82,753,109 RGD:9068941
G IL1R2 interleukin 1 receptor type 2 JBrowse link 2A 103,015,318 103,078,308 RGD:9068941
G NAT2 N-acetyltransferase 2 JBrowse link 8 14,561,281 14,576,669 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 87,214,451 87,234,739 RGD:9068941
G SIRT3 sirtuin 3 JBrowse link 11 255,191 863,031 RGD:9068941
G SLC26A5 solute carrier family 26 member 5 JBrowse link 7 108,088,197 108,178,578 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 21 31,411,702 31,419,432 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 6 162,576,082 162,589,960 RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 16 2,581,835 2,603,919 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:9068941
Progressive Hearing Loss Stapes Fixation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:9068941
G GJB6 gap junction protein beta 6 JBrowse link 13 19,864,208 19,874,385 RGD:9068941
G POU3F4 POU class 3 homeobox 4 JBrowse link X 82,666,699 82,668,337 RGD:7240710
RGD:9068941
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADGRV1 adhesion G protein-coupled receptor V1 JBrowse link 5 24,341,808 24,945,477 RGD:9068941
G C10H10orf105 chromosome 10 C10orf105 homolog JBrowse link 10 70,706,290 70,714,399 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 10 70,391,661 70,810,240 RGD:9068941
G CLRN1 clarin 1 JBrowse link 3 155,527,076 155,573,160 RGD:9068941
G HARS1 histidyl-tRNA synthetase 1 JBrowse link 5 142,154,552 142,172,371 RGD:9068941
G MYO7A myosin VIIA JBrowse link 11 75,834,409 75,908,297 RGD:9068941
G OTOP2 otopetrin 2 JBrowse link 17 74,426,358 74,435,200 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 10 52,661,035 54,456,043 RGD:9068941
G PSAP prosaposin JBrowse link 10 70,810,591 70,845,593 RGD:9068941
G USH1C USH1 protein network component harmonin JBrowse link 11 17,233,854 17,284,256 RGD:9068941
G USH1G USH1 protein network component sans JBrowse link 17 74,417,766 74,424,794 RGD:9068941
G USH2A usherin JBrowse link 1 196,048,086 196,850,216 RGD:9068941
G VSIR V-set immunoregulatory receptor JBrowse link 10 70,742,062 70,767,613 RGD:9068941
G WDR55 WD repeat domain 55 JBrowse link 5 142,145,749 142,152,992 RGD:9068941
G WHRN whirlin JBrowse link 9 113,863,872 113,966,758 RGD:9068941
Sensorineural Deafness and Male Infertility term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CATSPER2 cation channel sperm associated 2 JBrowse link 15 40,769,400 40,796,537 RGD:9068941
G STRC stereocilin JBrowse link 15 40,740,196 40,771,092 RGD:9068941
Sensorineural Deafness with Hypertrophic Cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO6 myosin VI JBrowse link 6 76,882,994 77,050,015 RGD:9068941
Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BSND barttin CLCNK type accessory beta subunit JBrowse link 1 55,869,495 55,879,674 RGD:9068941
sensorineural hearing loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTB actin beta JBrowse link 7 5,800,540 5,803,121 RGD:9068941
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 129,550,287 129,586,271 RGD:9068941
G APOE apolipoprotein E JBrowse link 19 50,459,906 50,463,490 RGD:9068941
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 1 121,212,161 121,232,876 RGD:9068941
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 JBrowse link 1 148,314,700 148,343,205 RGD:9068941
G BCAP31 B cell receptor associated protein 31 JBrowse link X 153,137,992 153,161,628 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 11 27,520,306 27,589,239 RGD:9068941
G BSND barttin CLCNK type accessory beta subunit JBrowse link