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ONTOLOGY REPORT - ANNOTATIONS
Term:Hearing Loss
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Accession:DOID:9004538 term browser browse the term
Definition:A general term for the complete or partial loss of the ability to hear from one or both ears.
Synonyms:exact_synonym: Hearing Impairment;   Hypoacuses;   Hypoacusis
 narrow_synonym: Hereditary Hearing Loss And Deafness;   NONSYNDROMIC HEARING LOSS, DOMINANT;   NONSYNDROMIC HEARING LOSS, MIXED;   NONSYNDROMIC HEARING LOSS, RECESSIVE;   NONSYNDROMIC HEARING LOSS, X-LINKED
 primary_id: MESH:D034381;   RDO:0000324
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
 
Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANAPC15 anaphase promoting complex subunit 15 JBrowse link 21 25,971,680 25,975,556 RGD:9068941
G APOE apolipoprotein E JBrowse link 1 110,525,717 110,528,534 RGD:9068941
G BARHL1 BarH like homeobox 1 JBrowse link 9 51,704,590 51,711,726 RGD:9068941
G BCL2L1 BCL2 like 1 JBrowse link 24 21,145,214 21,209,425 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 21 48,191,580 48,243,699 RGD:9068941
G BMP2 bone morphogenetic protein 2 JBrowse link 24 15,199,667 15,211,509 RGD:9068941
G BMP4 bone morphogenetic protein 4 JBrowse link 8 29,997,563 30,254,307 RGD:9068941
G C4H10orf105 chromosome 4 C10orf105 homolog JBrowse link 4 22,472,365 22,478,931 RGD:9068941
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 20 38,859,047 38,995,239 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 4 22,206,972 22,570,875 RGD:9068941
G CHD7 chromodomain helicase DNA binding protein 7 JBrowse link 29 11,115,865 11,284,713 RGD:9068941
G CHSY1 chondroitin sulfate synthase 1 JBrowse link 3 39,844,227 39,916,484 RGD:9068941
G CLCC1 chloride channel CLIC like 1 JBrowse link 6 42,807,432 42,829,317 RGD:9068941
G CLDN14 claudin 14 JBrowse link 31 31,677,410 31,725,794 RGD:9068941
G COCH cochlin JBrowse link 8 10,215,101 10,230,017 RGD:9068941
G COL4A4 collagen type IV alpha 4 chain JBrowse link 25 39,849,680 39,976,035 RGD:9068941
G COL4A5 collagen type IV alpha 5 chain JBrowse link X 81,982,119 82,248,428 RGD:9068941
G CX3CL1 C-X3-C motif chemokine ligand 1 JBrowse link 2 59,022,794 59,032,095 RGD:9068941
G CX3CR1 C-X3-C motif chemokine receptor 1 JBrowse link 23 8,937,069 8,954,738 RGD:9068941
G CYTB JBrowse link MT 14,183 15,322 RGD:9068941
G DHX30 DExH-box helicase 30 JBrowse link 20 41,102,064 41,131,464 RGD:9068941
G DIAPH1 diaphanous related formin 1 JBrowse link 2 36,483,781 36,581,390 RGD:9068941
G DNMT1 DNA methyltransferase 1 JBrowse link 20 50,872,213 50,928,352 RGD:9068941
G DSPP dentin sialophosphoprotein JBrowse link 32 11,017,440 11,022,780 RGD:9068941
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 28 1,358,383 1,432,276 RGD:9068941
G ESR2 estrogen receptor 2 JBrowse link 8 38,645,917 38,715,347 RGD:9068941
G ESRRB estrogen related receptor beta JBrowse link 8 49,253,877 49,424,148 RGD:9068941
G FOXI1 forkhead box I1 JBrowse link 4 41,760,899 41,764,887 RGD:9068941
G GJA1 gap junction protein alpha 1 JBrowse link 1 60,941,772 60,944,694 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 25 17,952,851 17,958,289 RGD:9068941
G GJB6 gap junction protein beta 6 JBrowse link 25 17,912,036 17,922,310 RGD:9068941
G GPSM2 G protein signaling modulator 2 JBrowse link 6 42,828,611 42,878,334 RGD:9068941
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 JBrowse link 13 39,766,910 39,882,076 RGD:9068941
G GSDME gasdermin E JBrowse link 14 38,210,975 38,286,729 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 18 21,329,688 21,410,257 RGD:9068941
G IL10 interleukin 10 JBrowse link 7 5,933,285 5,937,057 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 38 22,114,718 22,143,625 RGD:9068941
G KCNJ9 potassium inwardly rectifying channel subfamily J member 9 JBrowse link 38 22,100,627 22,104,165 RGD:9068941
G LHFPL5 LHFPL tetraspan subfamily member 5 JBrowse link 12 4,919,732 4,936,823 RGD:9068941
G LMX1A LIM homeobox transcription factor 1 alpha JBrowse link 38 17,958,366 18,111,155 RGD:9068941
G LOC106560171 transmembrane O-methyltransferase JBrowse link 21 25,975,547 25,981,097 RGD:9068941
G LOXHD1 lipoxygenase homology domains 1 JBrowse link 7 44,662,800 44,828,405 RGD:9068941
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 JBrowse link 2 43,918,210 43,996,817 RGD:9068941
G MARVELD2 MARVEL domain containing 2 JBrowse link 2 54,438,046 54,458,890 RGD:9068941
G MECP2 methyl-CpG binding protein 2 JBrowse link X 121,866,721 121,876,088 RGD:9068941
G MIR96 microRNA mir-96 JBrowse link 14 7,068,754 7,068,842 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 20 21,772,147 21,873,545 RGD:9068941
G MSRB3 methionine sulfoxide reductase B3 JBrowse link 10 7,892,745 8,040,196 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 2 84,445,526 84,457,435 RGD:9068941
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 4 3,219,851 3,328,000 RGD:9068941
G MYH14 myosin heavy chain 14 JBrowse link 1 106,371,952 106,460,388 RGD:9068941
G MYH9 myosin heavy chain 9 JBrowse link 10 28,063,626 28,122,953 RGD:9068941
G MYO15A myosin XVA JBrowse link 5 41,369,484 41,421,303 RGD:9068941
G MYO3A myosin IIIA JBrowse link 2 7,455,125 7,695,483 RGD:9068941
G MYO6 myosin VI JBrowse link 12 37,359,200 37,502,342 RGD:9068941
G MYO7A myosin VIIA JBrowse link 21 21,539,735 21,624,063 RGD:9068941
G ND4 NADH dehydrogenase subunit 4 JBrowse link MT 10,201 11,578 RGD:9068941
G ND5 NADH dehydrogenase subunit 5 JBrowse link MT 11,778 13,598 RGD:9068941
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 120,720,118 120,754,573 RGD:9068941
G NTF3 neurotrophin 3 JBrowse link 27 39,383,017 39,454,613 RGD:9068941
G NUMA1 nuclear mitotic apparatus protein 1 JBrowse link 21 26,000,579 26,076,281 RGD:9068941
G OTOF otoferlin JBrowse link 17 20,518,480 20,619,713 RGD:9068941
G OTOG otogelin JBrowse link 21 40,103,163 40,193,680 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 26 33,426,728 34,589,208 RGD:9068941
G PDE5A phosphodiesterase 5A JBrowse link 32 38,272,573 38,407,517 RGD:9068941
G PJVK pejvakin JBrowse link 36 22,080,574 22,087,537 RGD:9068941
G PLS1 plastin 1 JBrowse link 23 38,243,631 38,347,195 RGD:9068941
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 52,615,349 52,631,538 RGD:9068941
G POU3F4 POU class 3 homeobox 4 JBrowse link X 64,427,161 64,428,825 RGD:9068941
G PRKG1 protein kinase cGMP-dependent 1 JBrowse link 26 35,732,974 36,932,744 RGD:9068941
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 JBrowse link 36 22,061,226 22,080,324 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 81,150,537 81,171,521 RGD:9068941
G PSAP prosaposin JBrowse link 4 22,571,095 22,603,880 RGD:9068941
G PTPRQ protein tyrosine phosphatase receptor type Q JBrowse link 15 22,771,653 23,017,694 RGD:9068941
G PTPRS protein tyrosine phosphatase receptor type S JBrowse link 20 54,575,853 54,672,141 RGD:9068941
G PTRH2 peptidyl-tRNA hydrolase 2 JBrowse link 9 34,188,459 34,197,004 RGD:9068941
G RDX radixin JBrowse link 5 22,555,913 22,642,822 RGD:9068941
G RPGR retinitis pigmentosa GTPase regulator JBrowse link X 33,056,371 33,105,036 RGD:9068941
G SF3B4 splicing factor 3b subunit 4 JBrowse link 17 59,208,989 59,214,643 RGD:9068941
G SH3PXD2B SH3 and PX domains 2B JBrowse link 4 39,854,213 39,950,704 RGD:9068941
G SIX1 SIX homeobox 1 JBrowse link 8 35,676,705 35,679,534 RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 18 12,894,347 12,941,669 RGD:9068941
G SLC26A5 solute carrier family 26 member 5 JBrowse link 18 16,783,795 16,841,946 RGD:9068941
G SLC29A3 solute carrier family 29 member 3 JBrowse link 4 22,094,899 22,135,066 RGD:9068941
G SLC33A1 solute carrier family 33 member 1 JBrowse link 23 49,522,325 49,548,004 RGD:9068941
G SMPX small muscle protein X-linked JBrowse link X 17,520,564 17,578,453 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 31 26,540,291 26,544,212 RGD:9068941
G STAT1 signal transducer and activator of transcription 1 JBrowse link 37 1,513,438 1,549,837 RGD:9068941
G TECTA tectorin alpha JBrowse link 5 12,879,963 12,949,211 RGD:9068941
G TJP2 tight junction protein 2 JBrowse link 1 88,126,134 88,251,018 RGD:9068941
G TLR2 toll like receptor 2 JBrowse link 15 51,454,557 51,465,429 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 11 71,356,390 71,367,166 RGD:9068941
G TLR9 toll like receptor 9 JBrowse link 20 37,529,322 37,547,117 RGD:9068941
G TMC1 transmembrane channel like 1 JBrowse link 1 85,041,039 85,159,607 RGD:9068941
G TMIE transmembrane inner ear JBrowse link 20 42,052,607 42,061,424 RGD:9068941
G TMPRSS3 transmembrane serine protease 3 JBrowse link 31 36,706,229 36,730,444 RGD:9068941
G TNF tumor necrosis factor JBrowse link 12 1,074,561 1,076,425 RGD:9068941
G UCP2 uncoupling protein 2 JBrowse link 21 24,304,410 24,311,392 RGD:9068941
G USH1C USH1 protein network component harmonin JBrowse link 21 40,055,786 40,100,685 RGD:9068941
G USH1G USH1 protein network component sans JBrowse link 9 5,527,935 5,532,940 RGD:9068941
G USH2A usherin JBrowse link 38 11,063,221 11,750,444 RGD:9068941
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 13 38,451,722 38,466,481 RGD:9068941
G WHRN whirlin JBrowse link 11 68,617,383 68,699,824 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 1 47,599,802 47,651,034 RGD:7240710
RGD:9068941
Arts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PITX2 paired like homeodomain 2 JBrowse link 32 30,710,161 30,730,162 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 81,150,537 81,171,521 RGD:7240710
RGD:9068941
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXA1 homeobox A1 JBrowse link 14 40,267,033 40,272,212 RGD:7240710
RGD:9068941
G HOXA2 homeobox A2 JBrowse link 14 40,273,992 40,276,975 RGD:9068941
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FDXR ferredoxin reductase JBrowse link 9 5,567,411 5,577,427 RGD:7240710
RGD:9068941
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DIAPH3 diaphanous related formin 3 JBrowse link 22 15,573,485 16,078,580 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 20 50,872,213 50,928,352 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 32 11,017,440 11,022,780 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 1 106,371,952 106,460,388 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 25 17,952,851 17,958,289 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYM crystallin mu JBrowse link 6 24,187,073 24,204,304 RGD:9068941
G PDE1C phosphodiesterase 1C JBrowse link 14 44,250,612 44,543,818 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 2 36,483,781 36,581,390 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 1 26,208,514 26,514,601 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 21 21,539,735 21,624,063 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TECTA tectorin alpha JBrowse link 5 12,879,963 12,949,211 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 12 2,626,829 2,656,680 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 2 40,762,499 40,764,131 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STRC stereocilin JBrowse link 30 10,444,726 10,459,058 RGD:9068941
G TECTA tectorin alpha JBrowse link 5 12,879,963 12,949,211 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 10 28,063,626 28,122,953 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 9 635,978 638,328 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 12 37,359,200 37,502,342 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 8 35,676,705 35,679,534 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 15 39,443,790 39,489,988 RGD:7240710
RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 26 17,293,334 17,330,156 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 13 49,041,082 49,062,596 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 13 3,204,898 3,362,533 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 15 2,203,938 2,257,152 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 15 7,175,010 7,177,145 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 8 251,776 313,290 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMC1 transmembrane channel like 1 JBrowse link 1 85,041,039 85,159,607 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 6 47,425,387 47,622,189 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 25 17,952,851 17,958,289 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 25 17,912,036 17,922,310 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 6 24,187,073 24,204,304 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 26 480,370 485,527 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 34 23,168,594 23,243,221 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 10 1,159,816 1,194,452 RGD:7240710
RGD:9068941
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 1 110,652,362 110,661,173 RGD:9068941
G MYH14 myosin heavy chain 14 JBrowse link 1 106,371,952 106,460,388 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 1 110,652,362 110,661,173 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 14 38,210,975 38,286,729 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MIR96 microRNA mir-96 JBrowse link 14 7,068,754 7,068,842 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 1 88,126,134 88,251,018 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POU4F3 POU class 4 homeobox 3 JBrowse link 2 40,762,499 40,764,131 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 11 69,979,295 70,220,256 RGD:9068941
G TNC tenascin C JBrowse link 11 69,077,532 69,169,673 RGD:7240710
RGD:9068941
G TNFSF8 TNF superfamily member 8 JBrowse link 11 68,979,498 69,006,898 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 13 38,451,722 38,466,481 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 26 7,125,320 7,144,884 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 6 38,531,547 38,557,472 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 12 66,295,444 66,309,691 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OSBPL2 oxysterol binding protein like 2 JBrowse link 24 46,268,498 46,299,407 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 15 29,591,068 29,671,985 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 20 1,682,928 1,702,689 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DMXL2 Dmx like 2 JBrowse link 30 17,156,077 17,308,641 RGD:7240710
RGD:9068941
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 12 1,328,276 1,340,752 RGD:7240710
RGD:9068941
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 15 22,771,653 23,017,694 RGD:7240710
RGD:9068941
Autosomal Dominant Nonsyndromic Deafness 74 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDE1C phosphodiesterase 1C JBrowse link 14 44,250,612 44,543,818 RGD:7240710
RGD:9068941
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COCH cochlin JBrowse link 8 10,215,101 10,230,017 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 13 38,451,722 38,466,481 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 10 69,261,311 69,287,540 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 4 22,206,972 22,570,875 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 15 7,175,010 7,177,145 RGD:9068941
G GPSM2 G protein signaling modulator 2 JBrowse link 6 42,828,611 42,878,334 RGD:9068941
G LOXHD1 lipoxygenase homology domains 1 JBrowse link 7 44,662,800 44,828,405 RGD:9068941
G MYH9 myosin heavy chain 9 JBrowse link 10 28,063,626 28,122,953 RGD:9068941
G OTOF otoferlin JBrowse link 17 20,518,480 20,619,713 RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 18 12,894,347 12,941,669 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 3 8,013,879 8,083,177 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 2 40,310,285 40,330,200 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 27 30,893,884 31,070,401 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 12 14,160,524 14,318,174 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 35 22,823,053 23,041,765 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 27 30,893,884 31,070,401 RGD:9068941
G EPS8L2 EPS8 like 2 JBrowse link 18 25,741,166 25,755,310 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WBP2 WW domain binding protein 2 JBrowse link 9 4,743,476 4,752,301 RGD:7240710
RGD:9068941
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 46,010,097 46,477,882 RGD:7240710
RGD:9068941
Autosomal Recessive Nonsyndromic Deafness 109 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ESRP1 epithelial splicing regulatory protein 1 JBrowse link 29 39,322,516 39,388,363 RGD:7240710
RGD:9068941
Autosomal Recessive Nonsyndromic Deafness 110 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COCH cochlin JBrowse link 8 10,215,101 10,230,017 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 5 15,446,803 15,458,667 RGD:7240710
RGD:9068941
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 54,654,406 54,743,443 RGD:7240710
RGD:9068941
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 1 110,652,362 110,661,173 RGD:7240710
RGD:9068941
Autosomal Recessive Nonsyndromic Deafness 114 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC489534 GRB2-related adapter protein JBrowse link 5 41,014,193 41,038,965 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 5 30,494,355 30,527,669 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 20 7,665,468 8,037,407 RGD:7240710
RGD:9068941
G C4H10orf105 chromosome 4 C10orf105 homolog JBrowse link 4 22,472,365 22,478,931 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 4 22,206,972 22,570,875 RGD:7240710
RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 25 17,952,851 17,958,289 RGD:9068941
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 20 55,833,876 55,837,621 RGD:7240710
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 30 10,471,798 10,487,948 RGD:9068941
G CKMT1A creatine kinase, mitochondrial 1A JBrowse link 30 10,438,566 10,444,532 RGD:9068941
G HYPK huntingtin interacting protein K JBrowse link 30 10,541,713 10,544,572 RGD:9068941
G STRC stereocilin JBrowse link 30 10,444,726 10,459,058 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 21 40,055,786 40,100,685 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 21 40,055,786 40,100,685 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OTOG otogelin JBrowse link 21 40,103,163 40,193,680 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 25 17,551,586 17,733,754 RGD:9068941
G EEF1AKMT1 EEF1A lysine methyltransferase 1 JBrowse link 25 17,357,251 17,382,098 RGD:9068941
G GJA3 gap junction protein alpha 3 JBrowse link 25 17,986,270 18,004,344 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 25 17,952,851 17,958,289 RGD:7240710
RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 15 7,175,010 7,177,145 RGD:7240710
RGD:9068941
G GJB4 gap junction protein beta 4 JBrowse link 15 7,193,183 7,195,586 RGD:9068941
G GJB6 gap junction protein beta 6 JBrowse link 25 17,912,036 17,922,310 RGD:7240710
RGD:9068941
G IFT88 intraflagellar transport 88 JBrowse link 25 17,414,965 17,551,405 RGD:9068941
G IL17D interleukin 17D JBrowse link 25 17,386,815 17,390,315 RGD:9068941
G XPO4 exportin 4 JBrowse link 25 17,230,401 17,352,600 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 25 17,952,851 17,958,289 RGD:9068941
G GJB6 gap junction protein beta 6 JBrowse link 25 17,912,036 17,922,310 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 21 21,539,735 21,624,063 RGD:7240710
RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 18 12,894,347 12,941,669 RGD:9068941
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TECTA tectorin alpha JBrowse link 5 12,879,963 12,949,211 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OTOA otoancorin JBrowse link 6 23,106,650 23,175,159 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 26 33,426,728 34,589,208 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RDX radixin JBrowse link 5 22,555,913 22,642,822 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 13 39,766,910 39,882,076 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 19 10,269 117,808 RGD:7240710
RGD:9068941
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 34 271,572 505,656 RGD:9068941
G TRIOBP TRIO and F-actin binding protein JBrowse link 10 26,856,981 26,913,330 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLDN14 claudin 14 JBrowse link 31 31,677,410 31,725,794 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component JBrowse link 1 110,652,362 110,661,173 RGD:9068941
G MYO15A myosin XVA JBrowse link 5 41,369,484 41,421,303 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 2 7,455,125 7,695,483 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WHRN whirlin JBrowse link 11 68,617,383 68,699,824 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 6 49,429,675 49,678,376 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ESRRB estrogen related receptor beta JBrowse link 8 49,253,877 49,424,148 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ESPN espin JBrowse link 5 60,285,185 60,316,261 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 12 37,359,200 37,502,342 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 18 21,329,688 21,410,257 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component JBrowse link 1 110,652,362 110,661,173 RGD:9068941
G FOXI1 forkhead box I1 JBrowse link 4 41,760,899 41,764,887 RGD:7240710
RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 38 22,114,718 22,143,625 RGD:7240710
RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 18 12,894,347 12,941,669 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 33 25,207,537 25,238,071 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 16 1,064,644 1,166,864 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 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 2 54,438,046 54,458,890 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 12 2,626,829 2,656,680 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 28 13,693,032 13,711,654 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PJVK pejvakin JBrowse link 36 22,080,574 22,087,537 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMIE transmembrane inner ear JBrowse link 20 42,052,607 42,061,424 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 18 16,783,795 16,841,946 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 21 25,971,680 25,975,556 RGD:9068941
G LOC106560171 transmembrane O-methyltransferase JBrowse link 21 25,975,547 25,981,097 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 35 22,264,484 22,422,769 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 12 4,919,732 4,936,823 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 20 50,855,505 50,862,985 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO7A myosin VIIA JBrowse link 21 21,539,735 21,624,063 RGD:9068941
G NPHS2 NPHS2 stomatin family member, podocin JBrowse link 7 20,347,526 20,375,975 RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 18 12,894,347 12,941,669 RGD:9068941
G TMC1 transmembrane channel like 1 JBrowse link 1 85,041,039 85,159,607 RGD:7240710
RGD:9068941
G TRPC6 transient receptor potential cation channel subfamily C member 6 JBrowse link 5 29,897,378 30,007,885 RGD:9068941
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNPT1 polyribonucleotide nucleotidyltransferase 1 JBrowse link 10 56,478,771 56,520,992 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 10 7,892,745 8,040,196 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 1 116,676,365 116,686,911 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component JBrowse link 1 110,652,362 110,661,173 RGD:9068941
G LOXHD1 lipoxygenase homology domains 1 JBrowse link 7 44,662,800 44,828,405 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 31 36,706,229 36,730,444 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 15 22,771,653 23,017,694 RGD:7240710
RGD:12801476
RGD:9068941
autosomal recessive nonsyndromic deafness 84B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OTOGL otogelin like JBrowse link 15 22,623,183 22,754,605 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBC1D24 TBC1 domain family member 24 JBrowse link 6 38,531,547 38,557,472 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 17 39,642,101 39,668,079 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 5 75,172,976 75,188,197 RGD:7240710
RGD:9068941
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IGSF6 immunoglobulin superfamily member 6 JBrowse link 6 23,185,442 23,195,432 RGD:9068941
G METTL9 methyltransferase like 9 JBrowse link 6 23,182,800 23,230,288 RGD:9068941
G OTOA otoancorin JBrowse link 6 23,106,650 23,175,159 RGD:9068941
G OTOF otoferlin JBrowse link 17 20,518,480 20,619,713 RGD:7240710
RGD:9068941
G RAI1 retinoic acid induced 1 JBrowse link 5 41,687,436 41,797,354 RGD:9068941
G TECTA tectorin alpha JBrowse link 5 12,879,963 12,949,211 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 35 3,234,694 3,245,726 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 18 49,960,656 49,963,889 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 21 20,277,707 20,413,624 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 14 55,599,047 55,711,626 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 31 38,273,306 38,340,525 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 9 38,671,687 38,688,875 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 2 73,054,742 73,103,364 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 5 71,965,291 71,982,903 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 25 17,952,851 17,958,289 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 5 54,225,393 54,239,305 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 2 81,612,382 81,627,742 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 23 52,068,123 52,154,410 RGD:7240710
RGD:9068941
Bjornstad syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 37 25,261,704 25,266,517 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 13 37,779,896 37,786,653 RGD:9068941
G SLC52A3 solute carrier family 52 member 3 JBrowse link 24 20,127,527 20,141,070 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 13 37,779,896 37,786,653 RGD:9068941
G SLC52A3 solute carrier family 52 member 3 JBrowse link 24 20,127,527 20,141,070 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 13 37,800,562 37,817,449 RGD:9068941
G BOP1 BOP1 ribosomal biogenesis factor JBrowse link 13 37,698,635 37,723,803 RGD:9068941
G CPSF1 cleavage and polyadenylation specific factor 1 JBrowse link 13 37,817,440 37,827,868 RGD:9068941
G CYC1 cytochrome c1 JBrowse link 13 37,590,919 37,593,239 RGD:9068941
G CYHR1 cysteine and histidine rich 1 JBrowse link 13 37,860,452 37,871,982 RGD:9068941
G DGAT1 diacylglycerol O-acyltransferase 1 JBrowse link 13 37,745,395 37,761,337 RGD:9068941
G EXOSC4 exosome component 4 JBrowse link 13 37,574,359 37,576,331 RGD:9068941
G FBXL6 F-box and leucine rich repeat protein 6 JBrowse link 13 37,780,991 37,783,976 RGD:9068941
G FOXH1 forkhead box H1 JBrowse link 13 37,883,554 37,887,324 RGD:9068941
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 13 37,577,162 37,580,346 RGD:9068941
G GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 13 37,512,129 37,514,303 RGD:9068941
G HGH1 HGH1 homolog JBrowse link 13 37,621,587 37,624,523 RGD:9068941
G HSF1 heat shock transcription factor 1 JBrowse link 13 37,724,741 37,745,259 RGD:9068941
G KIFC2 kinesin family member C2 JBrowse link 13 37,875,611 37,883,166 RGD:9068941
G MAF1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 13 37,598,819 37,601,713 RGD:9068941
G MROH1 maestro heat like repeat family member 1 JBrowse link 13 37,645,810 37,698,550 RGD:9068941
G OPLAH 5-oxoprolinase, ATP-hydrolysing JBrowse link 13 37,555,035 37,564,241 RGD:9068941
G PLEC plectin JBrowse link 13 37,449,379 37,503,752 RGD:9068941
G SCX scleraxis bHLH transcription factor JBrowse link 13 37,701,781 37,704,949 RGD:9068941
G SHARPIN SHANK associated RH domain interactor JBrowse link 13 37,594,155 37,598,510 RGD:9068941
G SLC39A4 solute carrier family 39 member 4 JBrowse link 13 37,833,073 37,838,304 RGD:9068941
G SLC52A2 solute carrier family 52 member 2 JBrowse link 13 37,779,896 37,786,653 RGD:7240710
RGD:9068941
G SPATC1 spermatogenesis and centriole associated 1 JBrowse link 13 37,530,211 37,550,797 RGD:9068941
G TMEM249 transmembrane protein 249 JBrowse link 13 37,778,698 37,780,774 RGD:9068941
G TONSL tonsoku like, DNA repair protein JBrowse link 13 37,846,010 37,857,633 RGD:9068941
G VPS28 VPS28, ESCRT-I subunit JBrowse link 13 37,841,524 37,845,954 RGD:9068941
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADNP2 ADNP homeobox 2 JBrowse link 1 600,804 635,013 RGD:9068941
G ATP9B ATPase phospholipid transporting 9B (putative) JBrowse link 1 1,136,862 1,374,102 RGD:9068941
G CTDP1 CTD phosphatase subunit 1 JBrowse link 1 886,973 945,994 RGD:9068941
G GALR1 galanin receptor 1 JBrowse link 1 2,721,326 2,742,012 RGD:9068941
G HSBP1L1 heat shock factor binding protein 1 like 1 JBrowse link 1 743,321 747,401 RGD:9068941
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 1 805,892 866,031 RGD:9068941
G MBP myelin basic protein JBrowse link 1 2,841,801 2,952,553 RGD:9068941
G NFATC1 nuclear factor of activated T cells 1 JBrowse link 1 1,027,021 1,121,362 RGD:9068941
G PARD6G par-6 family cell polarity regulator gamma JBrowse link 1 478,310 567,728 RGD:9068941
G RBFA ribosome binding factor A JBrowse link 1 692,870 722,681 RGD:9068941
G SALL3 spalt like transcription factor 3 JBrowse link 1 1,413,991 1,421,516 RGD:9068941
G SLC66A2 solute carrier family 66 member 2 JBrowse link 1 758,456 801,227 RGD:9068941
G TXNL4A thioredoxin like 4A JBrowse link 1 722,223 735,253 RGD:7240710
RGD:9068941
G ZNF236 zinc finger protein 236 JBrowse link 1 2,959,113 3,062,349 RGD:9068941
G ZNF516 zinc finger protein 516 JBrowse link 1 3,275,255 3,400,761 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 3 62,309,128 62,318,932 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 1 112,325,988 112,346,056 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 38 14,864,004 14,925,684 RGD:7240710
RGD:9068941
Charcot-Marie-Tooth Disease and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PMP22 peripheral myelin protein 22 JBrowse link 5 38,806,731 38,839,002 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 5 38,806,731 38,839,002 RGD:7240710
RGD:9068941
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPZ myelin protein zero JBrowse link 38 21,205,339 21,210,439 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 101,275,027 101,307,551 RGD:7240710
RGD:9068941
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 101,311,752 101,322,825 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 81,150,537 81,171,521 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 6 42,807,432 42,829,317 RGD:9068941
G GPSM2 G protein signaling modulator 2 JBrowse link 6 42,828,611 42,878,334 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 22 37,911,533 37,918,273 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 20 21,772,147 21,873,545 RGD:7240710
RGD:9068941
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 22 46,323,263 46,402,240 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 49,248,555 49,254,128 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 12 2,626,829 2,656,680 RGD:9068941
G EYA1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 29 20,176,306 20,595,131 RGD:9068941
G FLNA filamin A JBrowse link X 122,058,303 122,083,467 RGD:9068941
G NOG noggin JBrowse link 9 31,453,604 31,456,060 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 1 80,437,902 80,469,383 RGD:7240710
RGD:9068941
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP250 centrosomal protein 250 JBrowse link 24 24,411,882 24,461,916 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 23 49,522,325 49,548,004 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 18 48,382,819 48,388,453 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 25 36,833,246 36,858,846 RGD:7240710
RGD:9068941
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 1 113,167,251 113,243,071 RGD:7240710
RGD:9068941
Corneal Dystrophy and Perceptive Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC4A11 solute carrier family 4 member 11 JBrowse link 24 18,057,437 18,068,420 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 37 28,346,476 28,443,648 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 13 1,101,226 1,834,933 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 11 8,717,182 8,810,716 RGD:7240710
RGD:9068941
Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AK2 adenylate kinase 2 JBrowse link 2 68,342,769 68,371,769 RGD:9068941
G AQP4 aquaporin 4 JBrowse link 7 61,855,617 61,868,953 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 21 48,191,580 48,243,699 RGD:9068941
G CACNA1D calcium voltage-gated channel subunit alpha1 D JBrowse link 20 36,189,986 36,488,460 RGD:9068941
G CDC14A cell division cycle 14A JBrowse link 6 49,429,675 49,678,376 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 4 22,206,972 22,570,875 RGD:9068941
G CLDN14 claudin 14 JBrowse link 31 31,677,410 31,725,794 RGD:9068941
G COCH cochlin JBrowse link 8 10,215,101 10,230,017 RGD:9068941
G CRYM crystallin mu JBrowse link 6 24,187,073 24,204,304 RGD:9068941
G EPS8 epidermal growth factor receptor pathway substrate 8 JBrowse link 27 30,893,884 31,070,401 RGD:9068941
G ESPN espin JBrowse link 5 60,285,185 60,316,261 RGD:9068941
G ESR2 estrogen receptor 2 JBrowse link 8 38,645,917 38,715,347 RGD:9068941
G GJB1 gap junction protein beta 1 JBrowse link X 55,565,995 55,575,332 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 25 17,952,851 17,958,289 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 15 7,175,010 7,177,145 RGD:9068941
G GPSM2 G protein signaling modulator 2 JBrowse link 6 42,828,611 42,878,334 RGD:9068941
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 JBrowse link 13 39,766,910 39,882,076 RGD:9068941
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase JBrowse link 16 22,640,912 22,683,733 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 15 41,203,320 41,275,964 RGD:9068941
G ILDR1 immunoglobulin like domain containing receptor 1 JBrowse link 33 25,207,537 25,238,071 RGD:9068941
G JAG1 jagged canonical Notch ligand 1 JBrowse link 24 11,656,926 11,693,146 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 38 22,114,718 22,143,625 RGD:9068941
G KCNK1 potassium two pore domain channel subfamily K member 1 JBrowse link 4 6,117,406 6,139,390 RGD:9068941
G KCNK10 potassium two pore domain channel subfamily K member 10 JBrowse link 8 59,484,385 59,612,891 RGD:9068941
G KCNK3 potassium two pore domain channel subfamily K member 3 JBrowse link 17 20,732,779 20,771,104 RGD:9068941
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 18 46,554,390 46,830,533 RGD:9068941
G LOXHD1 lipoxygenase homology domains 1 JBrowse link 7 44,662,800 44,828,405 RGD:9068941
G MARVELD2 MARVEL domain containing 2 JBrowse link 2 54,438,046 54,458,890 RGD:9068941
G MECP2 methyl-CpG binding protein 2 JBrowse link X 121,866,721 121,876,088 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 20 21,772,147 21,873,545 RGD:9068941
G MYO7A myosin VIIA JBrowse link 21 21,539,735 21,624,063 RGD:9068941
G OTOF otoferlin JBrowse link 17 20,518,480 20,619,713 RGD:9068941
G OTOG otogelin JBrowse link 21 40,103,163 40,193,680 RGD:9068941
G PAX3 paired box 3 JBrowse link 37 28,346,476 28,443,648 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 26 33,426,728 34,589,208 RGD:9068941
G PJVK pejvakin JBrowse link 36 22,080,574 22,087,537 RGD:9068941
G POLD1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 106,302,583 106,331,353 RGD:9068941
G POU3F4 POU class 3 homeobox 4 JBrowse link X 64,427,161 64,428,825 RGD:9068941
G POU4F3 POU class 4 homeobox 3 JBrowse link 2 40,762,499 40,764,131 RGD:9068941
G PTPRQ protein tyrosine phosphatase receptor type Q JBrowse link 15 22,771,653 23,017,694 RGD:9068941
G RET ret proto-oncogene JBrowse link 28 3,946,132 3,995,505 RGD:9068941
G SERAC1 serine active site containing 1 JBrowse link 1 47,599,802 47,651,034 RGD:9068941
G SLC19A2 solute carrier family 19 member 2 JBrowse link 7 29,094,341 29,114,319 RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 18 12,894,347 12,941,669 RGD:9068941
G SLC26A5 solute carrier family 26 member 5 JBrowse link 18 16,783,795 16,841,946 RGD:9068941
G SMAD4 SMAD family member 4 JBrowse link 1 23,875,989 23,930,027 RGD:9068941
G TECTA tectorin alpha JBrowse link 5 12,879,963 12,949,211 RGD:9068941
G TMC1 transmembrane channel like 1 JBrowse link 1 85,041,039 85,159,607 RGD:9068941
G TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 JBrowse link 15 24,629,610 25,017,936 RGD:9068941
G TRIOBP TRIO and F-actin binding protein JBrowse link 10 26,856,981 26,913,330 RGD:9068941
G USH1G USH1 protein network component sans JBrowse link 9 5,527,935 5,532,940 RGD:9068941
G USH2A usherin JBrowse link 38 11,063,221 11,750,444 RGD:9068941
G WHRN whirlin JBrowse link 11 68,617,383 68,699,824 RGD:9068941
DEAFNESS AND MYOPIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLITRK6 SLIT and NTRK like family member 6 JBrowse link 22 37,911,533 37,918,273 RGD:7240710
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 14 18,043,857 18,054,340 RGD:9068941
G PEX1 peroxisomal biogenesis factor 1 JBrowse link 14 18,073,759 18,144,489 RGD:7240710
RGD:9068941
G PEX6 peroxisomal biogenesis factor 6 JBrowse link 12 11,503,184 11,514,977 RGD:9068941
Deafness, Aminoglycoside-Induced term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COX1 cytochrome c oxidase subunit I JBrowse link MT 5,349 6,893 RGD:9068941
G TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase JBrowse link 10 19,841,813 19,859,514 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 24 11,656,926 11,693,146 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 81,150,537 81,171,521 RGD:9068941
Deafness, Unilateral, with Delayed Endolymphatic Hydrops term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PHEX phosphate regulating endopeptidase homolog X-linked JBrowse link X 17,830,714 18,038,755 RGD:9068941
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO15A myosin XVA JBrowse link 5 41,369,484 41,421,303 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 81,150,537 81,171,521 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 17,520,564 17,578,453 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 101,275,027 101,307,551 RGD:7240710
RGD:9068941
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 101,311,752 101,322,825 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 81,690,047 81,981,005 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 75,267,437 75,270,288 RGD:7240710
RGD:9068941
Digitorenocerebral Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBC1D24 TBC1 domain family member 24 JBrowse link 6 38,531,547 38,557,472 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 1 26,208,514 26,514,601 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 10 69,261,311 69,287,540 RGD:7240710
RGD:9068941
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 16 9,864,938 9,949,740 RGD:9068941
Donnai-Barrow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMBRD1 LMBR1 domain containing 1 JBrowse link 12 32,274,056 32,383,737 RGD:9068941
G LRP2 LDL receptor related protein 2 JBrowse link 36 13,910,450 14,107,081 RGD:7240710
RGD:9068941
EAST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IGSF8 immunoglobulin superfamily member 8 JBrowse link 38 22,093,463 22,100,009 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 38 22,114,718 22,143,625 RGD:7240710
RGD:9068941
RGD:12801476
G KCNJ9 potassium inwardly rectifying channel subfamily J member 9 JBrowse link 38 22,100,627 22,104,165 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 19 17,020,337 17,371,396 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 12 49,669,849 49,740,039 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 11 8,717,182 8,810,716 RGD:7240710
RGD:9068941
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB27A RAB27A, member RAS oncogene family JBrowse link 30 20,633,576 20,706,240 RGD:9068941
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO5A myosin VA JBrowse link 30 17,990,521 18,122,160 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 30 20,633,576 20,706,240 RGD:7240710
RGD:9068941
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MLPH melanophilin JBrowse link 25 48,121,499 48,167,535 RGD:7240710
RGD:9068941
G MYO5A myosin VA JBrowse link 30 17,990,521 18,122,160 RGD:9068941
Hearing Loss, Bilateral term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO3A myosin IIIA JBrowse link 2 7,455,125 7,695,483 RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 18 12,894,347 12,941,669 RGD:9068941
Hearing Loss, Cisplatin-Induced term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACYP2 acylphosphatase 2 JBrowse link 10 54,978,903 55,227,085 RGD:9068941
G CAMK2A calcium/calmodulin dependent protein kinase II alpha JBrowse link 4 58,800,818 58,865,830 RGD:9068941
G CAT catalase JBrowse link 18 33,383,005 33,422,447 RGD:9068941
G COMT catechol-O-methyltransferase JBrowse link 26 29,359,930 29,381,854 RGD:9068941
G GSK3B glycogen synthase kinase 3 beta JBrowse link 33 23,458,369 23,659,878 RGD:9068941
G TPMT thiopurine S-methyltransferase JBrowse link 35 16,928,991 16,953,891 RGD:9068941
Hearing Loss, Noise-Induced term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BDNF brain derived neurotrophic factor JBrowse link 21 48,191,580 48,243,699 RGD:9068941
G CAT catalase JBrowse link 18 33,383,005 33,422,447 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 9 39,008,187 39,009,932 RGD:9068941
G CCR2 C-C motif chemokine receptor 2 JBrowse link 20 42,305,344 42,313,258 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 4 22,206,972 22,570,875 RGD:9068941
G CDKN1A cyclin dependent kinase inhibitor 1A JBrowse link 12 5,746,898 5,755,103 RGD:9068941
G CFI complement factor I JBrowse link 32 29,936,447 29,986,755 RGD:9068941
G CNTN1 contactin 1 JBrowse link 27 12,655,021 13,005,536 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 25 17,952,851 17,958,289 RGD:9068941
G HIF1A hypoxia inducible factor 1 subunit alpha JBrowse link 8 36,614,045 36,656,692 RGD:9068941
G HSP70 heat shock protein 70 JBrowse link 12 1,285,282 1,287,670 RGD:9068941
G ICAM1 intercellular adhesion molecule 1 JBrowse link 20 50,818,715 50,827,914 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 15 41,203,320 41,275,964 RGD:9068941
G IL6 interleukin 6 JBrowse link 14 36,474,268 36,478,519 RGD:9068941
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 31 29,858,428 29,868,315 RGD:9068941
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 18 46,554,390 46,830,533 RGD:9068941
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 15 2,203,938 2,257,152 RGD:9068941
G LOC474850 heat shock 70 kDa protein 1-like JBrowse link 12 1,281,164 1,285,010 RGD:9068941
G MIR107 microRNA mir-107 JBrowse link 28 4,484,653 4,484,710 RGD:9068941
G MIR10A microRNA mir-10a JBrowse link 9 24,842,171 24,842,233 RGD:9068941
G MIR146B microRNA mir-146b JBrowse link 28 14,940,550 14,940,610 RGD:9068941
G MIR183 microRNA mir-183 JBrowse link 14 7,068,542 7,068,603 RGD:9068941
G MIR186 microRNA mir-186 JBrowse link 6 74,881,615 74,881,675 RGD:9068941
G MIR190B microRNA mir-190b JBrowse link 7 43,037,530 43,037,607 RGD:9068941
G MIR200C microRNA mir-200c JBrowse link 27 38,082,097 38,082,159 RGD:9068941
G MIR30D microRNA mir-30d JBrowse link 13 30,910,306 30,910,365 RGD:9068941
G MIR30E microRNA mir-30e JBrowse link 15 2,283,306 2,283,369 RGD:9068941
G MIR331 microRNA mir-331 JBrowse link 15 35,234,750 35,234,839 RGD:9068941
G MIR339-1 microRNA mir-339-1 JBrowse link 6 15,853,520 15,853,577 RGD:9068941
G MIR381 microRNA mir-381 JBrowse link 8 69,274,983 69,275,057 RGD:9068941
G MIR532 microRNA mir-532 JBrowse link X 42,774,680 42,774,738 RGD:9068941
G MIR99B microRNA mir-99b JBrowse link 1 105,400,925 105,400,984 RGD:9068941
G MMP7 matrix metallopeptidase 7 JBrowse link 5 29,187,902 29,196,157 RGD:9068941
G NOB1 NIN1 (RPN12) binding protein 1 homolog JBrowse link 5 79,958,145 79,966,166 RGD:9068941
G OGG1 8-oxoguanine DNA glycosylase JBrowse link 20 8,486,150 8,491,448 RGD:9068941
G PON2 paraoxonase 2 JBrowse link 14 20,652,905 20,680,945 RGD:9068941
G PROC protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 19 23,173,626 23,183,634 RGD:9068941
G PTGER4 prostaglandin E receptor 4 JBrowse link 4 68,663,362 68,676,241 RGD:9068941
G SELL selectin L JBrowse link 7 28,906,752 28,927,959 RGD:9068941
G SLC26A5 solute carrier family 26 member 5 JBrowse link 18 16,783,795 16,841,946 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 31 26,540,291 26,544,212 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 48,943,472 48,955,158 RGD:9068941
G SRC SRC proto-oncogene, non-receptor tyrosine kinase JBrowse link 24 25,982,499 26,019,748 RGD:9068941
G TAOK1 TAO kinase 1 JBrowse link 9 43,501,752 43,660,077 RGD:9068941
G TNF tumor necrosis factor JBrowse link 12 1,074,561 1,076,425 RGD:9068941
Hearing Loss, Unilateral term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL4A5 collagen type IV alpha 5 chain JBrowse link X 81,982,119 82,248,428 RGD:9068941
Hearing Loss, Unilateral Sensorineural term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DLA-64 MHC class I DLA-64 JBrowse link 12 983,573 986,969 RGD:9068941
HID Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB2 gap junction protein beta 2 JBrowse link 25 17,952,851 17,958,289 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 12 1,074,561 1,076,425 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 4 22,094,899 22,135,066 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 2 21,631,458 21,639,510 RGD:9068941
G AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) JBrowse link 2 30,661,333 30,691,283 RGD:9068941
G AKR1E2 aldo-keto reductase family 1 member E2 JBrowse link 2 30,694,119 30,706,693 RGD:9068941
G ANKRD16 ankyrin repeat domain 16 JBrowse link 2 30,095,941 30,105,739 RGD:9068941
G ARL5B ADP ribosylation factor like GTPase 5B JBrowse link 2 18,441,251 18,476,989 RGD:9068941
G ASB13 ankyrin repeat and SOCS box containing 13 JBrowse link 2 30,244,619 30,314,314 RGD:9068941
G ATP5F1C ATP synthase F1 subunit gamma JBrowse link 2 28,306,857 28,325,149 RGD:9068941
G BEND7 BEN domain containing 7 JBrowse link 2 22,975,673 23,057,029 RGD:9068941
G C1QL3 complement C1q like 3 JBrowse link 2 20,300,916 20,308,393 RGD:9068941
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 JBrowse link 2 18,537,100 18,787,728 RGD:9068941
G CALML5 calmodulin like 5 JBrowse link 2 30,431,088 30,431,950 RGD:9068941
G CAMK1D calcium/calmodulin dependent protein kinase ID JBrowse link 2 23,680,395 24,113,922 RGD:9068941
G CCDC3 coiled-coil domain containing 3 JBrowse link 2 23,477,696 23,593,107 RGD:9068941
G CDC123 cell division cycle 123 JBrowse link 2 24,184,780 24,239,495 RGD:9068941
G CDNF cerebral dopamine neurotrophic factor JBrowse link 2 21,795,701 21,814,359 RGD:9068941
G CELF2 CUGBP Elav-like family member 2 JBrowse link 2 25,003,810 25,818,264 RGD:9068941
G CUBN cubilin JBrowse link 2 19,784,125 20,041,840 RGD:9068941
G DCLRE1C DNA cross-link repair 1C JBrowse link 2 21,688,822 21,725,021 RGD:9068941
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 2 24,298,323 24,349,848 RGD:9068941
G ECHDC3 enoyl-CoA hydratase domain containing 3 JBrowse link 2 24,600,563 24,619,948 RGD:9068941
G FAM107B family with sequence similarity 107 member B JBrowse link 2 22,015,294 22,085,890 RGD:9068941
G FAM171A1 family with sequence similarity 171 member A1 JBrowse link 2 21,445,602 21,505,564 RGD:9068941
G FBH1 F-box DNA helicase 1 JBrowse link 2 30,047,994 30,095,761 RGD:9068941
G FRMD4A FERM domain containing 4A JBrowse link 2 22,128,030 22,857,707 RGD:9068941
G GATA3 GATA binding protein 3 JBrowse link 2 28,068,143 28,098,445 RGD:7240710
RGD:9068941
G GDI2 GDP dissociation inhibitor 2 JBrowse link 2 30,150,769 30,168,957 RGD:9068941
G HACD1 3-hydroxyacyl-CoA dehydratase 1 JBrowse link 2 19,362,488 19,383,090 RGD:9068941
G HSPA14 heat shock protein family A (Hsp70) member 14 JBrowse link 2 21,757,326 21,795,445 RGD:9068941
G IL15RA interleukin 15 receptor subunit alpha JBrowse link 2 29,981,385 30,034,364 RGD:9068941
G IL2RA interleukin 2 receptor subunit alpha JBrowse link 2 29,892,130 29,948,926 RGD:9068941
G ITGA8 integrin subunit alpha 8 JBrowse link 2 21,034,630 21,244,304 RGD:9068941
G ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 JBrowse link 2 28,367,842 28,403,610 RGD:9068941
G ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 JBrowse link 2 28,437,907 28,507,008 RGD:9068941
G KIN Kin17 DNA and RNA binding protein JBrowse link 2 28,325,243 28,360,790 RGD:9068941
G LOC478000 phytanoyl-CoA hydroxylase-like JBrowse link 2 23,185,901 23,206,719 RGD:9068941
G MCM10 minichromosome maintenance 10 replication initiation factor JBrowse link 2 23,288,249 23,344,060 RGD:9068941
G MEIG1 meiosis/spermiogenesis associated 1 JBrowse link 2 21,675,003 21,684,020 RGD:9068941
G MINDY3 MINDY lysine 48 deubiquitinase 3 JBrowse link 2 20,948,946 21,014,938 RGD:9068941
G NET1 neuroepithelial cell transforming 1 JBrowse link 2 30,450,946 30,463,280 RGD:9068941
G NMT2 N-myristoyltransferase 2 JBrowse link 2 21,569,692 21,609,585 RGD:9068941
G NSUN6 NOP2/Sun RNA methyltransferase 6 JBrowse link 2 18,477,150 18,534,716 RGD:9068941
G NUDT5 nudix hydrolase 5 JBrowse link 2 24,239,632 24,266,763 RGD:9068941
G OPTN optineurin JBrowse link 2 23,356,471 23,390,569 RGD:9068941
G PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 JBrowse link 2 29,716,866 29,785,643 RGD:9068941
G PRKCQ protein kinase C theta JBrowse link 2 29,319,123 29,505,338 RGD:9068941
G PROSER2 proline and serine rich 2 JBrowse link 2 24,510,659 24,550,712 RGD:9068941
G PRPF18 pre-mRNA processing factor 18 JBrowse link 2 22,868,184 22,922,647 RGD:9068941
G PTER phosphotriesterase related JBrowse link 2 20,237,673 20,377,290 RGD:9068941
G RBM17 RNA binding motif protein 17 JBrowse link 2 29,828,720 29,853,922 RGD:9068941
G RPP38 ribonuclease P/MRP subunit p38 JBrowse link 2 21,612,114 21,617,371 RGD:9068941
G RSU1 Ras suppressor protein 1 JBrowse link 2 20,050,029 20,299,179 RGD:9068941
G SEC61A2 SEC61 translocon alpha 2 subunit JBrowse link 2 24,267,260 24,292,466 RGD:9068941
G SEPHS1 selenophosphate synthetase 1 JBrowse link 2 23,147,303 23,178,808 RGD:9068941
G SFMBT2 Scm like with four mbt domains 2 JBrowse link 2 28,637,365 28,856,505 RGD:9068941
G SLC39A12 solute carrier family 39 member 12 JBrowse link 2 18,991,734 19,064,899 RGD:9068941
G ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 JBrowse link 2 19,392,690 19,618,127 RGD:9068941
G STAM signal transducing adaptor molecule JBrowse link 2 19,264,392 19,344,187 RGD:9068941
G SUV39H2 suppressor of variegation 3-9 homolog 2 JBrowse link 2 21,715,677 21,749,732 RGD:9068941
G TAF3 TATA-box binding protein associated factor 3 JBrowse link 2 28,121,719 28,298,961 RGD:9068941
G TASOR2 transcription activation suppressor family member 2 JBrowse link 2 30,170,539 30,244,738 RGD:9068941
G TRDMT1 tRNA aspartic acid methyltransferase 1 JBrowse link 2 19,702,561 19,763,744 RGD:9068941
G TUBAL3 tubulin alpha like 3 JBrowse link 2 30,523,678 30,531,909 RGD:9068941
G UCMA upper zone of growth plate and cartilage matrix associated JBrowse link 2 23,287,410 23,307,116 RGD:9068941
G UCN3 urocortin 3 JBrowse link 2 30,541,316 30,547,839 RGD:9068941
G UPF2 UPF2 regulator of nonsense mediated mRNA decay JBrowse link 2 24,370,961 24,473,437 RGD:9068941
G USP6NL USP6 N-terminal like JBrowse link 2 24,724,454 24,894,052 RGD:9068941
G VIM vimentin JBrowse link 2 19,671,316 19,679,367 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 15 41,203,320 41,275,964 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 22 3,255,139 3,261,440 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 30 9,869,769 10,006,994 RGD:7240710
RGD:9068941
Keipert Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPC4 glypican 4 JBrowse link X 104,098,316 104,215,883 RGD:7240710
RGD:9068941
LADD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGF10 fibroblast growth factor 10 JBrowse link 4 65,851,130 65,930,944 RGD:7240710
RGD:9068941
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 28 31,303,882 31,411,015 RGD:7240710
RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 3 62,309,128 62,318,932 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 1 106,302,583 106,331,353 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 6 47,425,387 47,622,189 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 6 47,425,387 47,622,189 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 59,772,067 60,107,016 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 14 40,267,033 40,272,212 RGD:9068941
G HOXA2 homeobox A2 JBrowse link 14 40,273,992 40,276,975 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 83,401,728 83,517,565 RGD:7240710
RGD:9068941
G RTL9 retrotransposon Gag like 9 JBrowse link X 83,639,071 83,650,359 RGD:9068941
G TMEM164 transmembrane protein 164 JBrowse link X 83,219,530 83,384,900 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 18 12,134,921 12,181,496 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 6 38,948,927 38,951,300 RGD:7240710
RGD:9068941
G RYR1 ryanodine receptor 1 JBrowse link 1 114,461,350 114,579,577 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 12 49,669,849 49,740,039 RGD:7240710
RGD:9068941
Muckle-Wells syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1RN interleukin 1 receptor antagonist JBrowse link 17 37,236,690 37,250,424 RGD:9068941
G NLRP3 NLR family pyrin domain containing 3 JBrowse link 8 251,776 313,290 RGD:7240710
RGD:9068941
Multiple Epiphyseal Dysplasia with Myopia and Conductive Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 27 6,756,994 6,787,733 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 25 16,630,321 16,665,935 RGD:9068941
G GDF5 growth differentiation factor 5 JBrowse link 24 24,395,699 24,400,302 RGD:9068941
G NOG noggin JBrowse link 9 31,453,604 31,456,060 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 10 28,063,626 28,122,953 RGD:12801476
RGD:9068941
RGD:7240710
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD151 CD151 molecule JBrowse link 18 45,195,875 45,200,066 RGD:7240710
RGD:9068941
nonsyndromic deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTG1 actin gamma 1 JBrowse link 9 635,978 638,328 RGD:9068941
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component JBrowse link 1 110,652,362 110,661,173 RGD:9068941
G COCH cochlin JBrowse link 8 10,215,101 10,230,017 RGD:9068941
G COL11A2 collagen type XI alpha 2 chain JBrowse link 12 2,626,829 2,656,680 RGD:9068941
G DCDC2 doublecortin domain containing 2 JBrowse link 35 22,264,484 22,422,769 RGD:9068941
G ESRRB estrogen related receptor beta JBrowse link 8 49,253,877 49,424,148 RGD:9068941
G EYA4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 26,208,514 26,514,601 RGD:9068941
G GIPC3 GIPC PDZ domain containing family member 3 JBrowse link 20 55,833,876 55,837,621 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 25 17,952,851 17,958,289 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 15 7,175,010 7,177,145 RGD:9068941
G GJB6 gap junction protein beta 6 JBrowse link 25 17,912,036 17,922,310 RGD:9068941
G GSDME gasdermin E JBrowse link 14 38,210,975 38,286,729 RGD:9068941
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 5 75,172,976 75,188,197 RGD:9068941
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 JBrowse link 15 2,203,938 2,257,152 RGD:9068941
G LOC106560171 transmembrane O-methyltransferase JBrowse link 21 25,975,547 25,981,097 RGD:9068941
G LOXHD1 lipoxygenase homology domains 1 JBrowse link 7 44,662,800 44,828,405 RGD:9068941
G MARVELD2 MARVEL domain containing 2 JBrowse link 2 54,438,046 54,458,890 RGD:9068941
G MET MET proto-oncogene, receptor tyrosine kinase JBrowse link 14 55,599,047 55,711,626 RGD:9068941
G MSRB3 methionine sulfoxide reductase B3 JBrowse link 10 7,892,745 8,040,196 RGD:9068941
G MSX1 msh homeobox 1 JBrowse link 3 70,232,790 70,236,295 RGD:9068941
G MYH9 myosin heavy chain 9 JBrowse link 10 28,063,626 28,122,953 RGD:9068941
G MYO15A myosin XVA JBrowse link 5 41,369,484 41,421,303 RGD:9068941
G MYO3A myosin IIIA JBrowse link 2 7,455,125 7,695,483 RGD:9068941
G MYO6 myosin VI JBrowse link 12 37,359,200 37,502,342 RGD:9068941
G MYO7A myosin VIIA JBrowse link 21 21,539,735 21,624,063 RGD:9068941
G NPHS2 NPHS2 stomatin family member, podocin JBrowse link 7 20,347,526 20,375,975 RGD:9068941
G OTOA otoancorin JBrowse link 6 23,106,650 23,175,159 RGD:9068941
G OTOF otoferlin JBrowse link 17 20,518,480 20,619,713 RGD:9068941
G OTOG otogelin JBrowse link 21 40,103,163 40,193,680 RGD:9068941
G OTOGL otogelin like JBrowse link 15 22,623,183 22,754,605 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 26 33,426,728 34,589,208 RGD:9068941
G PJVK pejvakin JBrowse link 36 22,080,574 22,087,537 RGD:9068941
G POU3F4 POU class 3 homeobox 4 JBrowse link X 64,427,161 64,428,825 RGD:9068941
G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 JBrowse link 3 8,013,879 8,083,177 RGD:9068941
G RDX radixin JBrowse link 5 22,555,913 22,642,822 RGD:9068941
G STRC stereocilin JBrowse link 30 10,444,726 10,459,058 RGD:9068941
G SYNE4 spectrin repeat containing nuclear envelope family member 4 JBrowse link 1 116,676,365 116,686,911 RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 6 38,531,547 38,557,472 RGD:9068941
G TECTA tectorin alpha JBrowse link 5 12,879,963 12,949,211 RGD:9068941
G TGFA transforming growth factor alpha JBrowse link 10 68,915,671 68,957,027 RGD:9068941
G TGFB3 transforming growth factor beta 3 JBrowse link 8 48,920,874 48,946,037 RGD:9068941
G TMC1 transmembrane channel like 1 JBrowse link 1 85,041,039 85,159,607 RGD:9068941
G TMIE transmembrane inner ear JBrowse link 20 42,052,607 42,061,424 RGD:9068941
G TMPRSS3 transmembrane serine protease 3 JBrowse link 31 36,706,229 36,730,444 RGD:9068941
G TRIOBP TRIO and F-actin binding protein JBrowse link 10 26,856,981 26,913,330 RGD:9068941
G USH1C USH1 protein network component harmonin JBrowse link 21 40,055,786 40,100,685 RGD:9068941
G USH2A usherin JBrowse link 38 11,063,221 11,750,444 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 7 27,159,425 27,175,144 RGD:7240710
RGD:9068941
Nonsyndromic Sensorineural Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COCH cochlin JBrowse link 8 10,215,101 10,230,017 RGD:9068941
G COL11A2 collagen type XI alpha 2 chain JBrowse link 12 2,626,829 2,656,680 RGD:9068941
G COX1 cytochrome c oxidase subunit I JBrowse link MT 5,349 6,893 RGD:9068941
G EYA4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 26,208,514 26,514,601 RGD:9068941
G GJA1 gap junction protein alpha 1 JBrowse link 1 60,941,772 60,944,694 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 25 17,952,851 17,958,289 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 15 7,175,010 7,177,145 RGD:9068941
G GJB6 gap junction protein beta 6 JBrowse link 25 17,912,036 17,922,310 RGD:9068941
G MYH14 myosin heavy chain 14 JBrowse link 1 106,371,952 106,460,388 RGD:9068941
G MYH9 myosin heavy chain 9 JBrowse link 10 28,063,626 28,122,953 RGD:9068941
G MYO1A myosin IA JBrowse link 10 1,159,816 1,194,452 RGD:9068941
G MYO6 myosin VI JBrowse link 12 37,359,200 37,502,342 RGD:9068941
G MYO7A myosin VIIA JBrowse link 21 21,539,735 21,624,063 RGD:9068941
G ND1 NADH dehydrogenase subunit 1 JBrowse link MT 2,747 3,702 RGD:9068941
G PNPT1 polyribonucleotide nucleotidyltransferase 1 JBrowse link 10 56,478,771 56,520,992 RGD:9068941
G POU4F3 POU class 4 homeobox 3 JBrowse link 2 40,762,499 40,764,131 RGD:9068941
G SIX1 SIX homeobox 1 JBrowse link 8 35,676,705 35,679,534 RGD:9068941
G SLC17A8 solute carrier family 17 member 8 JBrowse link 15 39,443,790 39,489,988 RGD:9068941
G SLC26A5 solute carrier family 26 member 5 JBrowse link 18 16,783,795 16,841,946 RGD:9068941
G TECTA tectorin alpha JBrowse link 5 12,879,963 12,949,211 RGD:9068941
G TJP2 tight junction protein 2 JBrowse link 1 88,126,134 88,251,018 RGD:9068941
G TMC1 transmembrane channel like 1 JBrowse link 1 85,041,039 85,159,607 RGD:9068941
G TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 JBrowse link 15 24,629,610 25,017,936 RGD:9068941
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 13 38,451,722 38,466,481 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 20 21,772,147 21,873,545 RGD:7240710
RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:7240710
RGD:9068941
Oculootoradial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SALL4 spalt like transcription factor 4 JBrowse link 24 37,941,498 37,959,713 RGD:7240710
RGD:9068941
Optic Atrophy 1 and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 23 52,068,123 52,154,410 RGD:7240710
RGD:9068941
otospondylomegaepiphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A2 collagen type XI alpha 2 chain JBrowse link 12 2,626,829 2,656,680 RGD:7240710
RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 27 6,756,994 6,787,733 RGD:9068941
Palmoplantar Keratoderma with Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COX1 cytochrome c oxidase subunit I JBrowse link MT 5,349 6,893 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 25 17,952,851 17,958,289 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 5 21,030,295 21,041,125 RGD:9068941
Pendred syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXI1 forkhead box I1 JBrowse link 4 41,760,899 41,764,887 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 38 22,114,718 22,143,625 RGD:9068941
G KCNJ9 potassium inwardly rectifying channel subfamily J member 9 JBrowse link 38 22,100,627 22,104,165 RGD:9068941
G SLC26A4 solute carrier family 26 member 4 JBrowse link 18 12,894,347 12,941,669 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 1 106,371,952 106,460,388 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 20 53,788,114 53,794,217 RGD:9068941
G HARS2 histidyl-tRNA synthetase 2, mitochondrial JBrowse link 2 35,843,611 35,851,257 RGD:9068941
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link 11 8,717,182 8,810,716 RGD:9068941
G LARS2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 20 42,891,823 43,080,987 RGD:9068941
Perrault Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HARS2 histidyl-tRNA synthetase 2, mitochondrial JBrowse link 2 35,843,611 35,851,257 RGD:7240710
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 20 53,788,114 53,794,217 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 20 42,891,823 43,080,987 RGD:7240710
RGD:9068941
Perrault syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TWNK twinkle mtDNA helicase JBrowse link 28 13,672,772 13,680,732 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 9 43,025,743 43,030,728 RGD:7240710
RGD:9068941
Presbycusis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTG1 actin gamma 1 JBrowse link 9 635,978 638,328 RGD:9068941
G AQP4 aquaporin 4 JBrowse link 7 61,855,617 61,868,953 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 21 48,191,580 48,243,699 RGD:9068941
G CACNA1D calcium voltage-gated channel subunit alpha1 D JBrowse link 20 36,189,986 36,488,460 RGD:9068941
G CAT catalase JBrowse link 18 33,383,005 33,422,447 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 4 22,206,972 22,570,875 RGD:9068941
G EDN1 endothelin 1 JBrowse link 35 11,808,892 11,815,383 RGD:9068941
G HSPB1 heat shock protein family B (small) member 1 JBrowse link 6 7,487,164 7,488,576 RGD:9068941
G IL1R2 interleukin 1 receptor type 2 JBrowse link 10 40,967,532 41,003,659 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 3 52,357,062 52,373,768 RGD:9068941
G SIRT3 sirtuin 3 JBrowse link 18 25,369,183 25,388,126 RGD:9068941
G SLC26A5 solute carrier family 26 member 5 JBrowse link 18 16,783,795 16,841,946 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 31 26,540,291 26,544,212 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 48,943,472 48,955,158 RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 6 38,531,547 38,557,472 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 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 25 17,952,851 17,958,289 RGD:9068941
G GJB6 gap junction protein beta 6 JBrowse link 25 17,912,036 17,922,310 RGD:9068941
G POU3F4 POU class 3 homeobox 4 JBrowse link X 64,427,161 64,428,825 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 3 17,866,459 18,351,532 RGD:9068941
G C4H10orf105 chromosome 4 C10orf105 homolog JBrowse link 4 22,472,365 22,478,931 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 4 22,206,972 22,570,875 RGD:9068941
G CLRN1 clarin 1 JBrowse link 23 45,512,639 45,551,010 RGD:9068941
G HARS1 histidyl-tRNA synthetase 1 JBrowse link 2 35,828,243 35,843,615 RGD:9068941
G HARS2 histidyl-tRNA synthetase 2, mitochondrial JBrowse link 2 35,843,611 35,851,257 RGD:9068941
G MYO7A myosin VIIA JBrowse link 21 21,539,735 21,624,063 RGD:9068941
G OTOP2 otopetrin 2 JBrowse link 9 5,518,178 5,527,783 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 26 33,426,728 34,589,208 RGD:9068941</