|
G |
Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA |
ClinVar |
|
|
NCBI chr 4:145,704,779...145,948,997
Ensembl chr 4:145,703,046...146,016,325
|
|
G |
Greb1l |
GREB1 like retinoic acid receptor coactivator |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA |
ClinVar |
PMID:25741868 |
|
NCBI chr18:1,537,315...1,784,260
Ensembl chr18:1,723,565...1,784,233
|
|
G |
Pde1c |
phosphodiesterase 1C |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA |
ClinVar |
PMID:29860631 |
|
NCBI chr 4:86,359,762...86,925,044
Ensembl chr 4:86,359,820...86,630,543
|
|
G |
Pls1 |
plastin 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA |
ClinVar |
PMID:31397523 |
|
NCBI chr 8:103,557,361...103,659,625
Ensembl chr 8:103,557,364...103,608,913
|
|
|
G |
Diaph3 |
diaphanous-related formin 3 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant, 1 ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:20624953 PMID:25741868 PMID:28492532 |
|
NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
|
|
|
G |
Dspp |
dentin sialophosphoprotein |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 DNA:missense mutations:cds:p.P17T, p.V18P (human) ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 |
OMIM ClinVar |
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:30311386, PMID:11175790 |
RGD:12910984 |
NCBI chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
|
|
|
G |
Myh14 |
myosin heavy chain 14 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 4 |
ClinVar |
PMID:15015131 PMID:15845534 PMID:16222661 PMID:23967202 PMID:24033266 PMID:24082139 PMID:25741868 PMID:26284702 PMID:26346818 PMID:26467025 PMID:27393652 PMID:28492532 PMID:30311386 PMID:30828794 |
|
NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
|
|
|
G |
Diaph1 |
diaphanous-related formin 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:9360932 PMID:22938506 PMID:23804846 PMID:24033266 PMID:25342930 PMID:25741868 PMID:26011067 PMID:26467025 PMID:26912466 PMID:27707755 PMID:27808407 PMID:27911912 PMID:28492532 PMID:28815995 PMID:30311386 |
|
NCBI chr18:30,972,907...31,071,371
Ensembl chr18:30,972,907...31,071,371
|
|
|
G |
Eya4 |
EYA transcriptional coactivator and phosphatase 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 10 ClinVar Annotator: match by OMIM:601316 |
OMIM ClinVar |
PMID:11159937 PMID:15735644 PMID:17567890 PMID:17568404 PMID:23861362 PMID:23990876 PMID:24033266 PMID:25681523 PMID:25741868 PMID:25781927 PMID:28492532 PMID:28798025 PMID:30165862 PMID:30828794 |
|
NCBI chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
|
|
|
G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 11 ClinVar Annotator: match by OMIM:601317 |
OMIM ClinVar |
PMID:3130723 PMID:8900236 PMID:9354784 PMID:9382091 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 PMID:12112664 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15660226 PMID:16400615 PMID:16449806 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19299023 PMID:19683999 PMID:20052763 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:21150918 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21738395 PMID:21873662 PMID:22135276 PMID:22681893 PMID:22785243 PMID:23226338 PMID:23237960 PMID:23383098 PMID:23451214 PMID:23451239 PMID:23770805 PMID:23804846 PMID:24033266 PMID:24105371 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24875298 PMID:25262649 PMID:25333064 PMID:25468891 PMID:25525159 PMID:25558175 PMID:25741868 PMID:25788563 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26467025 PMID:26791358 PMID:26969326 PMID:27068579 PMID:27344577 PMID:27460420 PMID:27610647 PMID:27729122 PMID:27766948 PMID:27911912 PMID:28041643 PMID:28492532 PMID:28802369 PMID:29490346 PMID:30245029 PMID:30311386 PMID:30718709 |
|
NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
|
|
|
G |
Tecta |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 ClinVar Annotator: match by term: Deafness, autosomal dominant 12 ClinVar Annotator: match by OMIM:601543 ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:9590290 PMID:10196713 PMID:10987647 PMID:11333869 PMID:12021773 PMID:12162770 PMID:16718611 PMID:17661817 PMID:18575463 PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:22980975 PMID:23967202 PMID:24033266 PMID:24586623 PMID:25262649 PMID:25741868 PMID:26467025 PMID:27068579 PMID:27627659 PMID:28000701 PMID:28492532 PMID:29196752 PMID:30311386 PMID:31163360 |
|
NCBI chr 8:46,603,728...46,675,658
Ensembl chr 8:46,603,728...46,675,544
|
|
|
G |
Brca1 |
BRCA1, DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 13 |
ClinVar |
PMID:1157798 PMID:11802208 PMID:12161611 PMID:15744030 PMID:15923272 PMID:16489001 PMID:17403394 PMID:18036263 PMID:19404736 PMID:20516115 PMID:21702907 PMID:22034289 PMID:22889855 PMID:23867111 PMID:24055113 PMID:25637381 PMID:25741868 PMID:26287763 PMID:26467025 PMID:26689913 PMID:27495310 PMID:28024868 PMID:28492532 PMID:28781887 PMID:30209399 PMID:30263132 PMID:30458859 |
|
NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
|
|
G |
Col11a2 |
collagen type XI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 13 ClinVar Annotator: match by OMIM:601868 |
OMIM ClinVar |
PMID:10581026 PMID:15372529 PMID:24033266 PMID:25633957 PMID:25741868 |
|
NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
|
|
|
G |
Pou4f3 |
POU class 4 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 15 ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:602459 |
OMIM ClinVar |
PMID:9506947 PMID:14585957 PMID:18228599 PMID:20434433 PMID:24033266 PMID:24260153 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29850532 PMID:30311386 |
|
NCBI chr18:36,713,869...36,716,461
Ensembl chr18:36,713,869...36,716,461
|
|
|
G |
Strc |
stereocilin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 16 |
ClinVar |
PMID:22147502 PMID:24033266 |
|
NCBI chr 3:113,324,403...113,343,513
Ensembl chr 3:113,324,698...113,342,675
|
|
G |
Tmc1 |
transmembrane channel-like 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 16 |
ClinVar |
PMID:18381613 PMID:18616530 PMID:19187973 PMID:21917145 PMID:24033266 PMID:26833330 |
|
NCBI chr 1:238,336,919...238,525,792
Ensembl chr 1:238,336,919...238,441,500
|
|
|
G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 ClinVar Annotator: match by term: Deafness, autosomal dominant 17 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 17 |
OMIM ClinVar |
PMID:9390828 PMID:11023810 PMID:11590545 PMID:11752022 PMID:12533692 PMID:16969870 PMID:17146397 PMID:18059020 PMID:18676005 PMID:19557653 PMID:20588287 PMID:22123909 PMID:22477015 PMID:22995991 PMID:23144074 PMID:23349334 PMID:23409987 PMID:23804846 PMID:24033266 PMID:24130771 PMID:24186861 PMID:24643058 PMID:24890873 PMID:25077172 PMID:25505834 PMID:25741868 PMID:25752595 PMID:25949529 PMID:26226608 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28059092 PMID:28492532 PMID:29090586 PMID:30311386 PMID:30720677 PMID:31064749 |
|
NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
|
|
|
G |
Actg1 |
actin, gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 20 ClinVar Annotator: match by OMIM:604717 |
OMIM ClinVar |
PMID:5654493 PMID:12519370 PMID:13680526 PMID:14684684 PMID:16773128 PMID:19477959 PMID:22366783 PMID:24033266 PMID:25741868 PMID:25792668 PMID:26467025 PMID:28000701 PMID:28492532 |
|
NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954 Ensembl chr10:75,643,054...75,644,954
|
|
|
G |
Myo6 |
myosin VI |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 22 ClinVar Annotator: match by OMIM:606346 |
OMIM ClinVar |
PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 PMID:18212818 PMID:18348273 PMID:24033266 PMID:25741868 PMID:26445815 PMID:26467025 PMID:28492532 |
|
NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269
|
|
|
G |
Six1 |
SIX homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 23 ClinVar Annotator: match by OMIM:605192 |
OMIM ClinVar |
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16971658 PMID:19497856 PMID:21280147 PMID:21700001 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
|
|
|
G |
Slc17a8 |
solute carrier family 17 member 8 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 25 |
OMIM ClinVar |
PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 7:30,215,231...30,274,993
Ensembl chr 7:30,216,104...30,274,984
|
|
G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISS |
OMIM:605583 |
MouseDO |
|
|
NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
|
|
|
G |
Rest |
RE1-silencing transcription factor |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 27 |
OMIM ClinVar |
PMID:29961578 |
|
NCBI chr14:33,131,985...33,152,019
Ensembl chr14:33,134,511...33,164,141
|
|
|
G |
Grhl2 |
grainyhead-like transcription factor 2 |
|
ISO |
DNA:nonsense mutation:exon: ClinVar Annotator: match by OMIM:608641 |
ClinVar OMIM |
PMID:12393799 PMID:23813623, PMID:12393799 |
RGD:1599382 |
NCBI chr 7:76,058,623...76,197,360
Ensembl chr 7:76,059,386...76,197,856
|
|
|
G |
Kcnq4 |
potassium voltage-gated channel subfamily Q member 4 |
|
ISO |
ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 2A ClinVar Annotator: match by OMIM:600101 |
OMIM ClinVar |
PMID:8035838 PMID:9126484 PMID:10025409 PMID:10369879 PMID:10571947 PMID:10925378 PMID:11450843 PMID:12112653 PMID:15699719 PMID:16596322 PMID:18030493 PMID:18786918 PMID:20301388 PMID:20832469 PMID:20966080 PMID:21242547 PMID:21951272 PMID:22384008 PMID:22420747 PMID:23717403 PMID:23750663 PMID:24033266 PMID:25116015 PMID:25741868 PMID:26036578 PMID:30311386 |
|
NCBI chr 5:139,625,783...139,677,300
Ensembl chr 5:139,627,576...139,677,300
|
|
|
G |
Gjb3 |
gap junction protein, beta 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 2b |
OMIM ClinVar |
PMID:9843210 PMID:16077902 PMID:21204020 PMID:23638949 PMID:24033266 PMID:28492532 |
|
NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
|
|
|
G |
Nlrp3 |
NLR family, pyrin domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION |
ClinVar OMIM |
PMID:49161 PMID:11687797 PMID:12355493 PMID:14872505 PMID:17038455 PMID:17213252 PMID:17393462 PMID:20159265 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26531310 PMID:27994174 PMID:28492532 PMID:28692792 PMID:28847925 |
|
NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
|
|
|
G |
Tmc1 |
transmembrane channel-like 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 ClinVar Annotator: match by OMIM:606705 |
OMIM ClinVar |
PMID:11850618 PMID:15354000 PMID:16134132 PMID:17250663 PMID:18616530 PMID:19180119 PMID:19187973 PMID:21250555 PMID:22607986 PMID:24033266 PMID:24416283 PMID:24827932 PMID:25388789 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 1:238,336,919...238,525,792
Ensembl chr 1:238,336,919...238,441,500
|
|
|
G |
Col11a1 |
collagen type XI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 |
OMIM ClinVar |
PMID:30245514 |
|
NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
|
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3a ClinVar Annotator: match by OMIM:601544 |
OMIM ClinVar |
PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10369869 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10704187 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11298683 PMID:11313751 PMID:11313763 PMID:11354642 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12372058 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12457340 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12668604 PMID:12673800 PMID:12684873 PMID:12700168 PMID:12746422 PMID:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14520102 PMID:14643477 PMID:14676473 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15617546 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16645853 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16931589 PMID:16945493 PMID:16950989 PMID:16952406 PMID:17018967 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17253936 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17462767 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17567887 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18353197 PMID:18414213 PMID:18472371 PMID:18560174 PMID:18570691 PMID:18607988 PMID:18668259 PMID:18684989 PMID:18688874 PMID:18776652 PMID:18793701 PMID:18804553 PMID:18924167 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19101659 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19465004 PMID:19567088 PMID:19586875 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19877196 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20096468 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20442751 PMID:20497192 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20854437 PMID:20863150 PMID:20890442 PMID:20937258 PMID:20956747 PMID:20981092 PMID:21040787 PMID:21056478 PMID:21094084 PMID:21094651 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21366436 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21510145 PMID:21728791 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21815880 PMID:21836520 PMID:21868108 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22389666 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22937313 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23073770 PMID:23141775 PMID:23266159 PMID:23451214 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23554706 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23684175 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23808595 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24078562 PMID:24123366 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24372583 PMID:24387126 PMID:24529908 PMID:24596593 PMID:24611097 PMID:24612839 PMID:24624091 PMID:24645897 PMID:24654934 PMID:24706568 PMID:24737404 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24814571 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25162826 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25625422 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25808784 PMID:25937001 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26397989 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26553399 PMID:26681637 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26832775 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27466889 PMID:27480936 PMID:27481527 PMID:27501294 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28000701 PMID:28008688 PMID:28222800 PMID:28271504 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29140768 PMID:29148562 PMID:29196752 PMID:29362677 PMID:29501291 PMID:29921236 PMID:30094485 PMID:30168495 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30466042 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31370293 PMID:31569309 PMID:31620696 PMID:31992338 PMID:32090102 PMID:115556849 PMID:163800907 |
|
NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
|
|
|
G |
Gjb6 |
gap junction protein, beta 6 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar Annotator: match by OMIM:612643 |
OMIM ClinVar |
PMID:10471490 PMID:16547895 PMID:16950989 PMID:17259707 PMID:20858605 PMID:25262649 PMID:25741868 PMID:28492532 PMID:28501645 |
|
NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
|
|
|
G |
Crym |
crystallin, mu |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 40 |
ClinVar OMIM |
PMID:12471561 PMID:24033266 PMID:25741868 |
|
NCBI chr 1:189,944,895...189,960,069
Ensembl chr 1:189,944,895...189,960,073
|
|
|
G |
P2rx2 |
purinergic receptor P2X 2 |
|
ISO |
ClinVar Annotator: match by OMIM:608224 |
OMIM ClinVar |
PMID:12161595 PMID:23345450 PMID:24211385 |
|
NCBI chr12:52,397,666...52,401,005
Ensembl chr12:52,397,792...52,401,015
|
|
|
G |
Ccdc50 |
coiled-coil domain containing 50 |
|
ISO |
DNA:duplication:cds:c.1394_1401dupCACGGCAT(human) ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:17503326, PMID:17503326 |
RGD:9685138 |
NCBI chr11:76,742,179...76,804,695
Ensembl chr11:76,747,865...76,804,510
|
|
|
G |
Myo1a |
myosin IA |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 48 ClinVar Annotator: match by OMIM:607841 |
ClinVar OMIM |
PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 |
|
NCBI chr 7:71,000,299...71,019,386
Ensembl chr 7:71,004,417...71,019,372
|
|
|
G |
Ceacam16 |
CEA cell adhesion molecule 16, tectorial membrane component |
|
ISS |
OMIM:600652 |
MouseDO |
|
|
NCBI chr 1:80,773,819...80,783,898
Ensembl chr 1:80,773,819...80,783,898
|
|
G |
Myh14 |
myosin heavy chain 14 |
|
ISO |
|
OMIM |
|
|
NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
|
|
|
G |
Ceacam16 |
CEA cell adhesion molecule 16, tectorial membrane component |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 4b ClinVar Annotator: match by OMIM:614614 |
OMIM ClinVar |
PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:28492532 |
|
NCBI chr 1:80,773,819...80,783,898
Ensembl chr 1:80,773,819...80,783,898
|
|
|
G |
Gsdme |
gasdermin E |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 5 ClinVar Annotator: match by OMIM:600994 ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:9771715 PMID:14559215 PMID:14676472 PMID:17868390 PMID:19911014 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:79,934,075...79,999,678
Ensembl chr 4:79,934,887...79,989,572
|
|
|
G |
Mir96 |
microRNA 96 |
|
ISO |
ClinVar Annotator: match by OMIM:613074 |
OMIM ClinVar |
PMID:14757864 PMID:19363479 |
|
NCBI chr 4:57,463,366...57,463,471
Ensembl chr 4:57,463,366...57,463,471
|
|
|
G |
Tjp2 |
tight junction protein 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 51 |
ClinVar OMIM |
PMID:20602916 |
|
NCBI chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
|
|
|
G |
Pou4f3 |
POU class 4 homeobox 3 |
|
ISO |
|
OMIM |
|
|
NCBI chr18:36,713,869...36,716,461
Ensembl chr18:36,713,869...36,716,461
|
|
|
G |
Pappa1 |
pappalysin 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
|
NCBI chr 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
|
|
G |
Tnc |
tenascin C |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar Annotator: match by OMIM:615629 |
OMIM ClinVar |
PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:30311386 |
|
NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
|
|
G |
Tnfsf8 |
TNF superfamily member 8 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
|
NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
|
|
|
G |
Wfs1 |
wolframin ER transmembrane glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 ClinVar Annotator: match by OMIM:600965 |
OMIM ClinVar |
PMID:8595423 PMID:9817917 PMID:10521293 PMID:10624825 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11317350 PMID:11694551 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12181639 PMID:12490066 PMID:12565131 PMID:12782971 PMID:12955714 PMID:15008830 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15852062 PMID:16408729 PMID:16648378 PMID:17492394 PMID:17517145 PMID:17603484 PMID:18414213 PMID:18544103 PMID:18688868 PMID:18806274 PMID:19292454 PMID:20738327 PMID:20875904 PMID:21446023 PMID:21917145 PMID:22938506 PMID:23429432 PMID:23535966 PMID:23595122 PMID:23856252 PMID:23990876 PMID:24033266 PMID:24875298 PMID:24909696 PMID:25133958 PMID:25262649 PMID:25388789 PMID:25497598 PMID:25741868 PMID:25895475 PMID:26467025 PMID:27185633 PMID:27617222 PMID:28432734 PMID:28492532 PMID:31363008 |
|
NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
|
|
|
G |
Diablo |
diablo, IAP-binding mitochondrial protein |
|
ISO |
ClinVar Annotator: match by OMIM:614152 |
OMIM ClinVar |
PMID:21722859 |
|
NCBI chr12:38,490,230...38,503,344
Ensembl chr12:38,490,230...38,503,330
|
|
|
G |
Tbc1d24 |
TBC1 domain family, member 24 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 65 |
OMIM ClinVar |
PMID:24033266 PMID:24291220 PMID:24729539 PMID:24729547 PMID:25741868 PMID:25769375 PMID:26371875 PMID:27281533 PMID:27502353 PMID:28292732 PMID:28428906 PMID:28492532 PMID:29100083 PMID:30311386 |
|
NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
|
|
|
G |
Cd164 |
CD164 molecule |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 66 |
ClinVar OMIM |
PMID:26197441 |
|
NCBI chr20:46,250,418...46,261,994
Ensembl chr20:46,250,363...46,261,994
|
|
|
G |
Osbpl2 |
oxysterol binding protein-like 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 67 |
OMIM ClinVar |
PMID:25759012 |
|
NCBI chr 3:175,493,650...175,538,965
Ensembl chr 3:175,493,698...175,538,963
|
|
|
G |
Homer2 |
homer scaffold protein 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 68 |
OMIM ClinVar |
PMID:25816005 PMID:30047143 |
|
NCBI chr 1:143,443,300...143,535,579
Ensembl chr 1:143,443,300...143,535,583
|
|
|
G |
Kitlg |
KIT ligand |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC |
OMIM ClinVar |
PMID:26522471 |
|
NCBI chr 7:42,269,784...42,351,054
Ensembl chr 7:42,269,784...42,351,054
|
|
|
G |
Lmx1a |
LIM homeobox transcription factor 1 alpha |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 7 |
OMIM ClinVar |
PMID:29754270 |
|
NCBI chr13:85,916,753...86,061,534
Ensembl chr13:85,918,252...86,061,176
|
|
|
G |
Mcm2 |
minichromosome maintenance complex component 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 70 |
ClinVar OMIM |
PMID:25741868 PMID:26196677 |
|
NCBI chr 4:120,825,699...120,840,221
Ensembl chr 4:120,825,699...120,840,111
|
|
|
G |
Dmxl2 |
Dmx-like 2 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 71 |
ClinVar OMIM |
PMID:25741868 PMID:27657680 |
|
NCBI chr 8:58,932,575...59,077,788
Ensembl chr 8:58,932,580...59,077,690
|
|
|
G |
Slc44a4 |
solute carrier family 44, member 4 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 72 |
ClinVar OMIM |
PMID:28013291 |
|
NCBI chr20:4,593,389...4,609,641
Ensembl chr20:4,593,389...4,609,631
|
|
|
G |
Ptprq |
protein tyrosine phosphatase, receptor type, Q |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 |
ClinVar OMIM |
PMID:25741868 PMID:29309402 |
|
NCBI chr 7:49,763,657...50,034,932
Ensembl chr 7:49,763,657...50,034,932
|
|
|
G |
Pde1c |
phosphodiesterase 1C |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 74 |
ClinVar OMIM |
PMID:29860631 |
|
NCBI chr 4:86,359,762...86,925,044
Ensembl chr 4:86,359,820...86,630,543
|
|
|
G |
Trrap |
transformation/transcription domain-associated protein |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 75 |
OMIM ClinVar |
PMID:25741868 PMID:31231791 |
|
NCBI chr12:11,537,950...11,627,563
Ensembl chr12:11,537,950...11,627,563
|
|
|
G |
Pls1 |
plastin 1 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 76 |
ClinVar OMIM |
PMID:25741868 PMID:30872814 PMID:31397523 PMID:31432506 |
|
NCBI chr 8:103,557,361...103,659,625
Ensembl chr 8:103,557,364...103,608,913
|
|
|
G |
Abcc1 |
ATP binding cassette subfamily C member 1 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 77 |
OMIM ClinVar |
PMID:31273342 |
|
NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
|
|
|
G |
Slc12a2 |
solute carrier family 12 member 2 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 78 |
OMIM ClinVar |
PMID:32294086 PMID:32658972 |
|
NCBI chr18:52,917,124...52,985,281
Ensembl chr18:52,917,124...52,985,261
|
|
|
G |
Coch |
cochlin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 9 ClinVar Annotator: match by OMIM:601369 |
OMIM ClinVar |
PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 PMID:12928864 PMID:14512963 PMID:16151338 PMID:16261627 PMID:16481359 PMID:18312449 PMID:19161137 PMID:22534022 PMID:24033266 PMID:24662630 PMID:25230692 PMID:25741868 PMID:25780252 PMID:28492532 PMID:28733840 |
|
NCBI chr 6:72,359,702...72,373,710
Ensembl chr 6:72,359,791...72,373,695
|
|