|
G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:28492532 PMID:28951997 PMID:30303587 |
|
NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
|
|
G |
Ankrd36 |
ankyrin repeat domain 36 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
|
|
NCBI chr14:80,451,699...80,568,458
Ensembl chr14:80,451,738...80,516,513
|
|
G |
Atp6v1b1 |
ATPase H+ transporting V1 subunit B1 |
|
ISS |
OMIM:607197 |
MouseDO |
|
|
NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
|
|
G |
Bsnd |
barttin CLCNK type accessory subunit beta |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 |
|
NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
|
|
G |
C20h10orf105 |
similar to human chromosome 10 open reading frame 105 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 PMID:28492532 PMID:30303587 More...
|
|
NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487
|
|
G |
Cabp2 |
calcium binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 PMID:30303587 More...
|
|
NCBI chr 1:201,374,649...201,380,469
Ensembl chr 1:201,375,276...201,380,469
|
|
G |
Cdh23 |
cadherin-related 23 |
|
ISO |
DNA:missense mutations:multiple ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar RGD |
PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:15353998 PMID:16199547 PMID:16679490 PMID:17407589 PMID:18429043 PMID:19683999 PMID:20513143 PMID:20613545 PMID:21436283 PMID:21569298 PMID:21940737 PMID:22899989 PMID:23804846 PMID:24033266 PMID:24498627 PMID:25404053 PMID:25741868 PMID:25963016 PMID:27018795 PMID:27573290 PMID:27792758 PMID:28492532 PMID:29148562 PMID:30303587 PMID:31445392 PMID:32485727 PMID:32645618 PMID:32842620 PMID:35020051 PMID:17850630 More...
|
RGD:8662281 |
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
|
|
G |
Cib2 |
calcium and integrin binding family member 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:23023331 PMID:25741868 PMID:30303587 |
|
NCBI chr 8:54,930,265...54,947,157
|
|
G |
Clcnka |
chloride voltage-gated channel Ka |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
|
|
G |
Cldn14 |
claudin 14 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 |
|
NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
|
|
G |
Clic5 |
chloride intracellular channel 5 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
|
|
NCBI chr 9:16,710,980...16,813,502
Ensembl chr 9:16,710,980...16,813,427
|
|
G |
Ednrb |
endothelin receptor type B |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 |
|
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
|
|
G |
Eps8 |
EGFR pathway substrate 8, signaling adaptor |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:30303587 |
|
NCBI chr 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873
|
|
G |
Espn |
espin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256
|
|
G |
Esrrb |
estrogen-related receptor beta |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 |
|
NCBI chr 6:106,007,701...106,163,136
Ensembl chr 6:106,008,095...106,160,791
|
|
G |
Gipc3 |
GIPC PDZ domain containing family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr 7:8,374,941...8,383,281
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9819448 PMID:9856479 PMID:10204859 PMID:10218527 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10607953 PMID:10633133 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10980526 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11354642 PMID:11386851 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551104 PMID:11556849 PMID:11668644 PMID:11698809 PMID:11807148 PMID:11935342 PMID:11968091 PMID:12081719 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12239718 PMID:12372058 PMID:12522556 PMID:12668604 PMID:12684873 PMID:12700168 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:14070830 PMID:14643477 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15151513 PMID:15219044 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15464308 PMID:15479191 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15790391 PMID:15855033 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16088916 PMID:16125251 PMID:16222667 PMID:16336662 PMID:16379542 PMID:16380907 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16868655 PMID:16945493 PMID:17146393 PMID:17253936 PMID:17406097 PMID:17428550 PMID:17462767 PMID:17553572 PMID:17576681 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18570691 PMID:18776652 PMID:18793701 PMID:18804553 PMID:18924167 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:19072567 PMID:19157576 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19715472 PMID:19814620 PMID:19925344 PMID:19929407 PMID:19929408 PMID:20022641 PMID:20073550 PMID:20086291 PMID:20096356 PMID:20201936 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20407643 PMID:20563649 PMID:20739944 PMID:20815033 PMID:20890442 PMID:21040787 PMID:21122151 PMID:21220926 PMID:21465647 PMID:21468573 PMID:21510145 PMID:21776002 PMID:21910243 PMID:22000900 PMID:22281373 PMID:22567152 PMID:22567369 PMID:22613756 PMID:22695344 PMID:22855627 PMID:22975760 PMID:22981120 PMID:22995991 PMID:23073770 PMID:23141775 PMID:23451214 PMID:23489192 PMID:23504403 PMID:23638949 PMID:23668481 PMID:23680645 PMID:23757202 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24158611 PMID:24346070 PMID:24387126 PMID:24529908 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25153233 PMID:25189242 PMID:25262649 PMID:25288386 PMID:25388846 PMID:25555641 PMID:25636251 PMID:25741868 PMID:25999548 PMID:26059209 PMID:26096904 PMID:26188157 PMID:26381000 PMID:26445815 PMID:26467025 PMID:26778469 PMID:26969326 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27316387 PMID:27481527 PMID:27843504 PMID:28492532 PMID:29062245 PMID:29362677 PMID:29501291 PMID:29921236 PMID:30086704 PMID:30094485 PMID:30303587 PMID:30311386 PMID:30431684 PMID:30872814 PMID:30989077 PMID:31346875 PMID:31827275 PMID:32747562 PMID:33187236 PMID:33524517 PMID:33614373 PMID:34440441 PMID:35396755 More...
|
|
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
|
|
G |
Gjb3 |
gap junction protein, beta 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10587579 |
|
NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980
|
|
G |
Gosr2 |
golgi SNAP receptor complex member 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:35802133 PMID:37074134 |
|
NCBI chr10:88,585,291...88,605,642
Ensembl chr10:88,586,299...88,605,625
|
|
G |
Gpr156 |
G protein-coupled receptor 156 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:37814107 |
|
NCBI chr11:62,722,632...62,815,402
Ensembl chr11:62,723,872...62,815,435
|
|
G |
Gpsm2 |
G-protein signaling modulator 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 |
|
NCBI chr 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154
|
|
G |
Grxcr1 |
glutaredoxin and cysteine rich domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:20137778 PMID:30303587 |
|
NCBI chr14:40,004,169...40,126,571
Ensembl chr14:40,004,169...40,126,571
|
|
G |
Grxcr2 |
glutaredoxin and cysteine rich domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
|
|
NCBI chr18:33,984,689...33,998,094
Ensembl chr18:33,984,689...33,998,094
|
|
G |
Ildr1 |
immunoglobulin-like domain containing receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:15641023 PMID:21255762 PMID:25741868 PMID:30303587 |
|
NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
|
|
G |
Lhfpl5 |
LHFPL tetraspan subfamily member 5 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 |
|
NCBI chr20:6,632,324...6,642,534
Ensembl chr20:6,632,362...6,642,532
|
|
G |
Loxhd1 |
lipoxygenase homology PLAT domains 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 PMID:28000701 PMID:28492532 PMID:29676012 PMID:30311386 More...
|
|
NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983
|
|
G |
Marveld2 |
MARVEL domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr 2:31,742,652...31,764,150
Ensembl chr 2:31,657,220...31,764,150
|
|
G |
Msrb3 |
methionine sulfoxide reductase B3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:19650862 PMID:21185009 PMID:30303587 |
|
NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496
|
|
G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
|
|
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
|
|
G |
Myo15a |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:17546645 PMID:25741868 PMID:27573290 PMID:28492532 PMID:30303587 |
|
NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
|
|
G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 PMID:12112664 PMID:15043528 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:18181211 PMID:19074810 PMID:20052763 PMID:21311020 PMID:21436283 PMID:21569298 PMID:21873662 PMID:22135276 PMID:22898263 PMID:23451239 PMID:23591405 PMID:23770805 PMID:24033266 PMID:24194196 PMID:25404053 PMID:25468891 PMID:25558175 PMID:25741868 PMID:25798947 PMID:26226137 PMID:26791358 PMID:27344577 PMID:27460420 PMID:27573290 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29692870 PMID:30303587 PMID:30718709 PMID:31479088 PMID:33187236 PMID:33269433 PMID:33671976 PMID:36147510 PMID:36909829 More...
|
|
NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
|
|
G |
Otoa |
otoancorin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 |
|
NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435
|
|
G |
Otof |
otoferlin |
|
ISO |
DNA:missense mutation:cds:p.I318N (mouse) ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar RGD |
PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:20301429 PMID:22575033 PMID:24033266 PMID:25741868 PMID:26632695 PMID:27082237 PMID:28492532 PMID:30303587 PMID:34113375 PMID:17967520 More...
|
RGD:9479154 |
NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
|
|
G |
Otog |
otogelin |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415
|
|
G |
Pcdh15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
|
|
G |
Pdzd7 |
PDZ domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31253780 |
|
NCBI chr 1:243,888,295...243,907,778
Ensembl chr 1:243,888,281...243,906,839
|
|
G |
Pjvk |
pejvakin |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:25741868 PMID:28492532 PMID:30303587 PMID:32747562 More...
|
|
NCBI chr 3:61,594,644...61,605,051
Ensembl chr 3:61,596,641...61,605,045
|
|
G |
Pou4f3 |
POU class 4 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr18:34,390,205...34,392,797
Ensembl chr18:34,390,205...34,392,797
|
|
G |
Ptprq |
protein tyrosine phosphatase, receptor type, Q |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr 7:42,834,455...43,016,807
Ensembl chr 7:42,837,109...43,016,917
|
|
G |
Slc26a4 |
solute carrier family 26 member 4 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 PMID:10874637 PMID:10902795 PMID:11317356 PMID:11502831 PMID:11748854 PMID:11919333 PMID:11932316 PMID:12112665 PMID:12676893 PMID:12974744 PMID:14508505 PMID:14679580 PMID:15355436 PMID:15574297 PMID:15679828 PMID:15747138 PMID:15811013 PMID:15933521 PMID:16053392 PMID:16283880 PMID:16460646 PMID:16570074 PMID:16711435 PMID:16924389 PMID:16950989 PMID:17309986 PMID:17443271 PMID:17576681 PMID:17718863 PMID:17766716 PMID:18167283 PMID:18285825 PMID:18641518 PMID:18813951 PMID:19017801 PMID:19040761 PMID:19169484 PMID:19287372 PMID:19426954 PMID:19509082 PMID:19608655 PMID:19786220 PMID:20137612 PMID:20597900 PMID:20668687 PMID:20842945 PMID:21154317 PMID:21366435 PMID:21704276 PMID:21961810 PMID:22116358 PMID:22116360 PMID:22903915 PMID:23151025 PMID:23185506 PMID:23273637 PMID:23296490 PMID:23336812 PMID:23504402 PMID:23638949 PMID:23718755 PMID:23770805 PMID:23918157 PMID:23958391 PMID:23965030 PMID:24007330 PMID:24033266 PMID:24105851 PMID:24224479 PMID:24248179 PMID:24338212 PMID:24949729 PMID:25015771 PMID:25266519 PMID:25290043 PMID:25317404 PMID:25372295 PMID:25394566 PMID:25468468 PMID:25491636 PMID:25525159 PMID:25741868 PMID:26100058 PMID:26226137 PMID:26252218 PMID:26445815 PMID:26683941 PMID:26752218 PMID:26763877 PMID:27541434 PMID:27573290 PMID:27771369 PMID:28444304 PMID:28492532 PMID:28604962 PMID:28941661 PMID:28964290 PMID:29372807 PMID:30077349 PMID:30303587 PMID:30311386 PMID:30622556 PMID:30693673 PMID:30760291 PMID:31581539 PMID:31599023 PMID:31700827 PMID:31971949 PMID:32417962 PMID:32447495 PMID:32747562 PMID:34170635 PMID:34599368 More...
|
|
NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
|
|
G |
Tecta |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
|
|
G |
Tmc1 |
transmembrane channel-like 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 PMID:18616530 PMID:19187973 PMID:20373850 PMID:21917145 PMID:22105175 PMID:24033266 PMID:24416283 PMID:24949729 PMID:25491636 PMID:25741868 PMID:25741915 PMID:26467025 PMID:28492532 PMID:30303587 PMID:31379920 PMID:31854501 PMID:32747562 PMID:34523024 More...
|
|
NCBI chr 1:218,275,249...218,446,013
Ensembl chr 1:218,276,417...218,445,955
|
|
G |
Tmie |
transmembrane inner ear |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 PMID:30311386 More...
|
|
NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803
|
|
G |
Tmprss3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11137999 PMID:11424922 PMID:12920079 PMID:16021470 PMID:24033266 PMID:25741868 PMID:26226137 PMID:26969326 PMID:28492532 PMID:30303587 PMID:30311386 PMID:30622556 PMID:34868270 More...
|
|
NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
|
|
G |
Togaram2 |
TOG array regulator of axonemal microtubules 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
|
|
NCBI chr 6:23,770,979...23,828,884
Ensembl chr 6:23,771,052...23,828,499
|
|
G |
Tprn |
taperin |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:20170899 PMID:30303587 |
|
NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642
|
|
G |
Triobp |
TRIO and F-actin binding protein |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr 7:110,505,916...110,569,301
Ensembl chr 7:110,506,248...110,562,474
|
|
G |
Ush1c |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 PMID:12702164 PMID:17407589 PMID:20301442 PMID:21203349 PMID:21569298 PMID:22135276 PMID:24033266 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25741868 PMID:26969326 PMID:27460420 PMID:28041643 PMID:28492532 PMID:30303587 PMID:30718709 More...
|
|
NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
|
|
G |
Ush1g |
USH1 protein network component sans |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:30303587 |
|
NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590
|
|
G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 PMID:28492532 PMID:30303587 More...
|
|
NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
|
|
G |
Whrn |
whirlin |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
|
|
|
G |
Ppip5k2 |
diphosphoinositol pentakisphosphate kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 100 |
OMIM ClinVar |
PMID:15538632 PMID:25741868 PMID:29590114 |
|
NCBI chr 9:98,315,220...98,394,537
Ensembl chr 9:98,315,252...98,390,814
|
|
|
G |
Grxcr2 |
glutaredoxin and cysteine rich domain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 101 |
OMIM CTD ClinVar |
PMID:24619944 PMID:25741868 PMID:28492532 |
|
NCBI chr18:33,984,689...33,998,094
Ensembl chr18:33,984,689...33,998,094
|
|
|
G |
Eps8 |
EGFR pathway substrate 8, signaling adaptor |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 102 |
OMIM CTD ClinVar |
PMID:24033266 PMID:24741995 PMID:25741868 PMID:28492532 PMID:30303587 |
|
NCBI chr 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873
|
|
|
G |
Clic5 |
chloride intracellular channel 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 103 |
OMIM CTD ClinVar |
PMID:24033266 PMID:24781754 PMID:25741868 PMID:28492532 |
|
NCBI chr 9:16,710,980...16,813,502
Ensembl chr 9:16,710,980...16,813,427
|
|
G |
Dicer1 |
dicer 1 ribonuclease III |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 103 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
|
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 104 |
ClinVar |
PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9819448 PMID:10204859 PMID:10218527 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10607953 PMID:10633133 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11483639 PMID:11493200 PMID:11551104 PMID:11668644 PMID:11807148 PMID:11935342 PMID:12081719 PMID:12172392 PMID:12176036 PMID:12239718 PMID:12522556 PMID:12684873 PMID:12746422 PMID:12786762 PMID:14070830 PMID:14694360 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15070423 PMID:15113126 PMID:15359540 PMID:15666300 PMID:15954104 PMID:15967879 PMID:16088916 PMID:16336662 PMID:16380907 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16868655 PMID:17406097 PMID:17428550 PMID:17553572 PMID:17576681 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18804553 PMID:18925674 PMID:18985073 PMID:19371219 PMID:19375528 PMID:19814620 PMID:19925344 PMID:20022641 PMID:20073550 PMID:20086291 PMID:20201936 PMID:20236118 PMID:20301449 PMID:20739944 PMID:20815033 PMID:21122151 PMID:21220926 PMID:21465647 PMID:21468573 PMID:21776002 PMID:21910243 PMID:22000900 PMID:22281373 PMID:22567152 PMID:22567369 PMID:22855627 PMID:22975760 PMID:22981120 PMID:23489192 PMID:23680645 PMID:23757202 PMID:24033266 PMID:24039984 PMID:24158611 PMID:24346070 PMID:24529908 PMID:24793888 PMID:24840842 PMID:24959830 PMID:25012701 PMID:25189242 PMID:25288386 PMID:25555641 PMID:25741868 PMID:25999548 PMID:26059209 PMID:26096904 PMID:26445815 PMID:26467025 PMID:26969326 PMID:27177978 PMID:27224056 PMID:27481527 PMID:27843504 PMID:28492532 PMID:29362677 PMID:29501291 PMID:30086704 PMID:30303587 PMID:30311386 PMID:30431684 PMID:30872814 PMID:31346875 PMID:32747562 PMID:33524517 PMID:34440441 PMID:35396755 More...
|
|
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
|
|
G |
Ripor2 |
RHO family interacting cell polarization regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr17:40,323,748...40,547,482
Ensembl chr17:40,323,867...40,548,092
|
|
|
G |
Eps8 |
EGFR pathway substrate 8, signaling adaptor |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 106 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873
|
|
G |
Eps8l2 |
EPS8-like 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 106 |
OMIM ClinVar |
PMID:25741868 PMID:25741905 PMID:26282398 PMID:28281779 PMID:28492532 PMID:32747562 More...
|
|
NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541
|
|
|
G |
Wbp2 |
WW domain binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 107 |
OMIM ClinVar |
PMID:25741868 PMID:26881968 PMID:28492532 |
|
NCBI chr10:101,312,476...101,320,775
Ensembl chr10:101,312,446...101,320,736
|
|
|
G |
Ror1 |
receptor tyrosine kinase-like orphan receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 108 |
OMIM ClinVar |
PMID:25741868 PMID:27162350 PMID:28492532 |
|
NCBI chr 5:114,744,311...115,088,155
Ensembl chr 5:114,744,304...115,088,155
|
|
|
G |
Esrp1 |
epithelial splicing regulatory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 109 |
ClinVar OMIM |
PMID:25741868 PMID:29107558 |
|
NCBI chr 5:24,427,611...24,482,157
Ensembl chr 5:24,428,717...24,482,062
|
|
|
G |
Coch |
cochlin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 110 |
OMIM ClinVar |
PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 PMID:31126177 More...
|
|
NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109
|
|
|
G |
Mpzl2 |
myelin protein zero-like 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 PMID:35599849 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
|
|
|
G |
Bdp1 |
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 112 |
OMIM ClinVar |
PMID:24312468 PMID:25741868 |
|
NCBI chr 2:31,378,407...31,470,140
Ensembl chr 2:31,378,924...31,470,119
|
|
|
G |
Ceacam16 |
CEA cell adhesion molecule 16, tectorial membrane component |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 113 |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 PMID:30311386 PMID:33111345 More...
|
|
NCBI chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871
|
|
|
G |
Grap |
GRB2-related adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 114 |
OMIM ClinVar |
PMID:25741868 PMID:30610177 |
|
NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
|
|
|
G |
Spns2 |
SPNS lysolipid transporter 2, sphingosine-1-phosphate |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 115 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:57,067,348...57,105,969
Ensembl chr10:57,066,897...57,105,957
|
|
|
G |
Cldn9 |
claudin 9 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 116 |
OMIM ClinVar |
PMID:25741868 PMID:30311386 PMID:31175426 PMID:35802133 PMID:36633841 |
|
NCBI chr10:12,714,137...12,715,568
|
|
|
G |
Clrn2 |
clarin 2 |
|
ISO |
ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 |
OMIM ClinVar |
PMID:25741868 PMID:33496845 |
|
NCBI chr14:65,656,029...65,666,325
Ensembl chr14:65,656,550...65,666,193
|
|
|
G |
Afg2b |
AFG2 AAA ATPase homolog B |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:34626583 |
|
NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757
|
|
|
G |
Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 PMID:29452611 More...
|
|
NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665
|
|
G |
C20h10orf105 |
similar to human chromosome 10 open reading frame 105 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17850630 PMID:18273900 PMID:18429043 PMID:19683999 PMID:20146813 PMID:21228398 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22899989 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:27610647 PMID:28492532 PMID:28847902 PMID:30303587 PMID:31445392 PMID:31541171 PMID:35020051 More...
|
|
NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487
|
|
G |
Cdh23 |
cadherin-related 23 |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 OMIM:601386 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:12910270 PMID:15353998 PMID:15537665 PMID:15660226 PMID:15829536 PMID:16199547 PMID:16281288 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18348277 PMID:18368581 PMID:18429043 PMID:18484607 PMID:19375528 PMID:19683999 PMID:19888295 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21174530 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21917145 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23804846 PMID:23967202 PMID:24006325 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24444108 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25333064 PMID:25356970 PMID:25373420 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:26226137 PMID:26264712 PMID:26346818 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26633542 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27349180 PMID:27460420 PMID:27583405 PMID:27583663 PMID:27610647 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28383030 PMID:28483220 PMID:28492532 PMID:28501645 PMID:28847902 PMID:28912962 PMID:29048421 PMID:29148562 PMID:29343940 PMID:29568747 PMID:29889784 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30123251 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30622556 PMID:30718709 PMID:30733538 PMID:30828794 PMID:31054281 PMID:31152317 PMID:31445392 PMID:31541171 PMID:31850270 PMID:31872526 PMID:32238869 PMID:32467589 PMID:32747562 PMID:32842620 PMID:32860223 PMID:32991204 PMID:33576794 PMID:34416374 PMID:34824372 PMID:34906470 PMID:34906502 PMID:34948090 PMID:35020051 PMID:35062939 PMID:35186827 PMID:35248088 PMID:35440622 PMID:35802133 PMID:36460718 PMID:36633841 PMID:36672845 More...
|
|
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:24367894 PMID:25741868 |
|
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
|
|
G |
Psap |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 |
|
NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
|
|
G |
Vsir |
V-set immunoregulatory receptor |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:25741868 |
|
NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878
|
|
|
G |
Minar2 |
membrane integral NOTCH2 associated receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 120 |
OMIM ClinVar |
PMID:35727972 |
|
NCBI chr18:52,539,714...52,554,465
Ensembl chr18:52,539,917...52,554,461
|
|
G |
Obscn |
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 120 |
ClinVar |
|
|
NCBI chr10:43,774,113...43,919,718
Ensembl chr10:43,789,293...43,919,723
|
|
|
G |
Gpr156 |
G protein-coupled receptor 156 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 121 |
OMIM ClinVar |
PMID:37814107 |
|
NCBI chr11:62,722,632...62,815,402
Ensembl chr11:62,723,872...62,815,435
|
|
|
G |
Tmtc4 |
transmembrane O-mannosyltransferase targeting cadherins 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 122 |
OMIM ClinVar |
PMID:37943620 |
|
NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543
|
|
|
G |
Stx4 |
syntaxin 4 |
|
ISO |
|
OMIM |
|
|
NCBI chr 1:182,451,108...182,459,701
Ensembl chr 1:182,451,117...182,459,979
|
|
|
G |
Gipc3 |
GIPC PDZ domain containing family, member 3 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 PMID:32682410 More...
|
|
NCBI chr 7:8,374,941...8,383,281
|
|
|
G |
Catsper2 |
cation channel, sperm associated 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 |
|
NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050
|
|
G |
Ckmt1 |
creatine kinase, mitochondrial 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758
|
|
G |
Frmd5 |
FERM domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:108,492,099...108,763,715
Ensembl chr 3:108,474,562...108,763,498
|
|
G |
Pdia3 |
protein disulfide isomerase family A, member 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
|
|
G |
Ppip5k1 |
diphosphoinositol pentakisphosphate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:108,284,120...108,327,683
Ensembl chr 3:108,284,120...108,323,428
|
|
G |
Strc |
stereocilin |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition OMIM:603720 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 PMID:24033266 PMID:24963352 PMID:25157971 PMID:25741868 PMID:26011646 PMID:26467025 PMID:26746617 PMID:26969326 PMID:27057829 PMID:29196752 PMID:29425068 PMID:31552524 PMID:32203226 PMID:32860223 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
|
|
|
G |
Ush1c |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 18 |
ClinVar |
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:17576681 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:24033266 PMID:24416283 PMID:24498627 PMID:24875298 PMID:25333064 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:25741913 PMID:26969326 PMID:27440999 PMID:27460420 PMID:27743452 PMID:27848944 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29625443 PMID:29739340 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 PMID:31858762 PMID:32747562 PMID:33576794 PMID:33724713 More...
|
|
NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
|
|
|
G |
Ush1c |
USH1 protein network component harmonin |
|
ISO ISS |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A OMIM:602092 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:17576681 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:24033266 PMID:24416283 PMID:24498627 PMID:24875298 PMID:25333064 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:25741913 PMID:26969326 PMID:27440999 PMID:27460420 PMID:27743452 PMID:27848944 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29625443 PMID:29739340 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 PMID:31858762 PMID:32747562 PMID:33576794 PMID:33724713 PMID:14519688 More...
|
RGD:8694458 |
NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
|
|
|
G |
Otog |
otogelin |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition OMIM:614945 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 PMID:24033266 PMID:24378291 PMID:25741868 PMID:26467025 PMID:28050010 PMID:28492532 PMID:29196752 PMID:29907799 PMID:30139988 PMID:30311386 PMID:31152317 PMID:31645975 PMID:31827275 PMID:32048449 PMID:33223529 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415
|
|
|
G |
Cryl1 |
crystallin, lambda 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 |
ClinVar |
PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 PMID:15994881 PMID:17041943 PMID:18324688 PMID:20236118 PMID:27480936 PMID:28492532 More...
|
|
NCBI chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997
|
|
G |
Eef1akmt1 |
EEF1A lysine methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,694,284...31,711,367
Ensembl chr15:31,694,292...31,711,336
|
|
G |
Gja3 |
gap junction protein, alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 OMIM:220290 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:3 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:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9838096 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10377081 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: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:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11445873 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12081719 PMID:12111646 PMID:12112666 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:12673800 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12885339 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14556203 PMID:14571368 PMID:14643477 PMID:14676473 PMID:14681040 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14978038 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15146674 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15603707 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15638823 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15757815 PMID:15790391 PMID:15832357 PMID:15841999 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15994881 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 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:16885744 PMID:16931589 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17077310 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17309986 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17567887 PMID:17567889 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17671735 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18196482 PMID:18294064 PMID:18316665 PMID:18324688 PMID:18353197 PMID:18414213 PMID:18451998 PMID:18472371 PMID:18519481 PMID:18560174 PMID:18570691 PMID:18580690 PMID:18607988 PMID:18649181 PMID:18668259 PMID:18684989 PMID:18688874 PMID:18758381 PMID:18776652 PMID:18804553 PMID:18809215 PMID:18837651 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:18990456 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19101659 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19283857 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19390476 PMID:19465004 PMID:19567088 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19718752 PMID:19719946 PMID:19723508 PMID:19744334 PMID:19775242 PMID:19814620 PMID:19877196 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20031451 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20412116 PMID:20441744 PMID:20442751 PMID:20497192 PMID:20542681 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20601923 PMID:20607074 PMID:20639189 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20937258 PMID:20956747 PMID:20981092 PMID:21040787 PMID:21055240 PMID:21094084 PMID:21094651 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21292415 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21388256 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21510145 PMID:21557232 PMID:21728791 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21868108 PMID:21910243 PMID:21912263 PMID:21916817 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22208444 PMID:22281373 PMID:22384008 PMID:22389666 PMID:22429511 PMID:22450542 PMID:22484064 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22704424 PMID:22747691 PMID:22785241 PMID:22787277 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23120683 PMID:23141775 PMID:23266159 PMID:23328711 PMID:23418865 PMID:23451214 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23684175 PMID:23695287 PMID:23751281 PMID:23757202 PMID:23804846 PMID:23812555 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23967136 PMID:23967202 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24078562 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24158896 PMID:24224790 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24372583 PMID:24503448 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24596593 PMID:24611097 PMID:24612839 PMID:24645897 PMID:24654934 PMID:24706568 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24941117 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25153233 PMID:25162826 PMID:25188385 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25560255 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25741895 PMID:25752103 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26046157 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26186295 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26397989 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27067584 PMID:27087580 PMID:27153395 PMID:27169813 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27316387 PMID:27340645 PMID:27398341 PMID:27466889 PMID:27481527 PMID:27501294 PMID:27518711 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28263784 PMID:28271504 PMID:28383030 PMID:28405014 PMID:28428247 PMID:28483220 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28640090 PMID:28651654 PMID:28704896 PMID:28786104 PMID:28900111 PMID:28900455 PMID:29062245 PMID:29106882 PMID:29140768 PMID:29148562 PMID:29196752 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29542069 PMID:29605365 PMID:29625052 PMID:29665173 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30068397 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30168495 PMID:30245029 PMID:30275481 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30473554 PMID:30589569 PMID:30693673 PMID:30733538 PMID:30755392 PMID:30762455 PMID:30828346 PMID:30872814 PMID:30896630 PMID:30989077 PMID:31035178 PMID:31053783 PMID:31099403 PMID:31152317 PMID:31160754 PMID:31162818 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31379920 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31911633 PMID:31980526 PMID:31992338 PMID:32067424 PMID:32090102 PMID:32258544 PMID:32355288 PMID:32455934 PMID:32645618 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33179747 PMID:33187236 PMID:33297549 PMID:33333757 PMID:33466560 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33914963 PMID:33928925 PMID:34062854 PMID:34276761 PMID:34325055 PMID:34335733 PMID:34354426 PMID:34403091 PMID:34440441 PMID:34515852 PMID:34652575 PMID:35016843 PMID:35182233 PMID:35301649 PMID:35396755 PMID:35864128 PMID:36048236 PMID:36788145 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
|
|
G |
Gjb3 |
gap junction protein, beta 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980
|
|
G |
Gjb4 |
gap junction protein, beta 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667
|
|
G |
Gjb6 |
gap junction protein, beta 6 |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 OMIM:220290 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 PMID:12172394 PMID:12419304 PMID:12788524 PMID:12885339 PMID:14571368 PMID:14708603 PMID:15213106 PMID:15638823 PMID:15769851 PMID:15994881 PMID:16547895 PMID:16950989 PMID:17041943 PMID:17160938 PMID:17259707 PMID:17666888 PMID:18324688 PMID:19723508 PMID:20536673 PMID:21731760 PMID:22106692 PMID:22617145 PMID:23219093 PMID:23757202 PMID:23863883 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24052723 PMID:24514865 PMID:24522190 PMID:24685692 PMID:25214170 PMID:25262649 PMID:25741868 PMID:26551294 PMID:27068579 PMID:27137747 PMID:27480936 PMID:27817781 PMID:28492532 PMID:29739340 PMID:29771057 PMID:30620052 PMID:31015822 PMID:31589614 PMID:35062939 More...
|
|
NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582
|
|
G |
Ift88 |
intraflagellar transport 88 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
|
|
G |
Il17d |
interleukin 17D |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,671,337...31,688,833
|
|
G |
Xpo4 |
exportin 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,717,016...31,807,723
Ensembl chr15:31,716,762...31,807,908
|
|
|
G |
Cryl1 |
crystallin, lambda 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 PMID:15994881 PMID:17041943 PMID:18324688 PMID:25741868 PMID:27480936 PMID:28492532 More...
|
|
NCBI chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997
|
|
G |
Eef1akmt1 |
EEF1A lysine methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,694,284...31,711,367
Ensembl chr15:31,694,292...31,711,336
|
|
G |
Gja3 |
gap junction protein, alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810
|
|
G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:3 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9422505 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11445873 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11807148 PMID:11912510 PMID:11935342 PMID:11968091 PMID:12064630 PMID:12081719 PMID:12111646 PMID:12112666 PMID:12121355 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12865758 PMID:12885339 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14571368 PMID:14694360 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15479191 PMID:15617550 PMID:15638823 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15994881 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17331080 PMID:17357124 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18684989 PMID:18776652 PMID:18804553 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19707039 PMID:19715472 PMID:19814620 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20095872 PMID:20154630 PMID:20201936 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20497192 PMID:20563649 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20981092 PMID:21094084 PMID:21122151 PMID:21162657 PMID:21220926 PMID:21465647 PMID:21468573 PMID:21488715 PMID:21776002 PMID:21811586 PMID:21910243 PMID:22000900 PMID:22011219 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22855627 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23489192 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23668481 PMID:23680645 PMID:23757202 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24158611 PMID:24341454 PMID:24346070 PMID:24529908 PMID:24611097 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25087612 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25555641 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25999548 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26336802 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26969326 PMID:27045574 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27308839 PMID:27481527 PMID:27610647 PMID:27623246 PMID:27785406 PMID:27792752 PMID:27843504 PMID:27884957 PMID:28012523 PMID:28428247 PMID:28489599 PMID:28492532 PMID:29293505 PMID:29311818 PMID:29362677 PMID:29501291 PMID:29921236 PMID:29926981 PMID:30086704 PMID:30094485 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30589569 PMID:30693673 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31346875 PMID:31370293 PMID:31562289 PMID:31827275 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33126609 PMID:33187236 PMID:33297549 PMID:33333757 PMID:33524517 PMID:33614373 PMID:34440441 PMID:34515852 PMID:35016843 PMID:35396755 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
|
|
G |
Gjb6 |
gap junction protein, beta 6 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 PMID:12172394 PMID:12419304 PMID:12788524 PMID:12885339 PMID:14571368 PMID:14708603 PMID:15213106 PMID:15638823 PMID:15769851 PMID:15994881 PMID:16547895 PMID:16950989 PMID:17041943 PMID:17160938 PMID:17259707 PMID:17666888 PMID:18324688 PMID:19723508 PMID:20536673 PMID:21731760 PMID:22106692 PMID:22617145 PMID:23219093 PMID:23757202 PMID:23863883 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24052723 PMID:24514865 PMID:24522190 PMID:24685692 PMID:25214170 PMID:25262649 PMID:25741868 PMID:26551294 PMID:27068579 PMID:27137747 PMID:27480936 PMID:27817781 PMID:28492532 PMID:29739340 PMID:29771057 PMID:30620052 PMID:31015822 PMID:31589614 PMID:35062939 More...
|
|
NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582
|
|
G |
Ift88 |
intraflagellar transport 88 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
|
|
G |
Il17d |
interleukin 17D |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,671,337...31,688,833
|
|
G |
Xpo4 |
exportin 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,717,016...31,807,723
Ensembl chr15:31,716,762...31,807,908
|
|
|
G |
Myo7a |
myosin VIIA |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 OMIM:600060 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 PMID:9002678 PMID:9171832 PMID:9171833 PMID:9259201 PMID:9382091 PMID:9536098 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10868224 PMID:10930322 PMID:11391666 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15606003 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16400615 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:17576681 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19156839 PMID:19299023 PMID:19375528 PMID:19683999 PMID:19888295 PMID:20052763 PMID:20132242 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21117948 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21602428 PMID:21738395 PMID:21873662 PMID:21901789 PMID:22135276 PMID:22219650 PMID:22334370 PMID:22681893 PMID:22690115 PMID:22785243 PMID:22898263 PMID:22903915 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23451214 PMID:23451239 PMID:23559863 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23882135 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24194196 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:24997346 PMID:25080338 PMID:25133751 PMID:25211151 PMID:25262649 PMID:25333064 PMID:25342930 PMID:25373420 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25741868 PMID:25741913 PMID:25741916 PMID:25788563 PMID:25798947 PMID:26011067 PMID:26164827 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26486028 PMID:26561413 PMID:26633542 PMID:26654877 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27013738 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27440999 PMID:27460420 PMID:27573290 PMID:27583663 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28008688 PMID:28041643 PMID:28281779 PMID:28439001 PMID:28451532 PMID:28472130 PMID:28492532 PMID:28559085 PMID:28944237 PMID:28968992 PMID:29048421 PMID:29099798 PMID:29142287 PMID:29178603 PMID:29196752 PMID:29276601 PMID:29416772 PMID:29490346 PMID:29625443 PMID:29692870 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30390570 PMID:30459346 PMID:30718709 PMID:30733538 PMID:30828346 PMID:30881389 PMID:31035849 PMID:31266775 PMID:31456290 PMID:31479088 PMID:31541171 PMID:31964843 PMID:32097363 PMID:32428919 PMID:32467589 PMID:32531858 PMID:32747562 PMID:32853555 PMID:32860223 PMID:33089500 PMID:33105617 PMID:33111345 PMID:33187236 PMID:33297549 PMID:33363762 PMID:33576163 PMID:33576794 PMID:33623043 PMID:33671976 PMID:33691693 PMID:33724713 PMID:33924653 PMID:34148116 PMID:34416374 PMID:34426522 PMID:34837038 PMID:34948090 PMID:35453549 PMID:35551639 PMID:35640668 PMID:35802133 PMID:36147510 PMID:36164746 PMID:36633841 PMID:36672771 PMID:36909829 More...
|
|
NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
|
|
|
G |
Tecta |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:9949200 PMID:11087000 PMID:12746400 PMID:17431902 PMID:17576681 PMID:17661817 PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:22980975 PMID:23967202 PMID:24033266 PMID:24130743 PMID:24586623 PMID:25262649 PMID:25741868 PMID:26467025 PMID:26969326 PMID:27068579 PMID:27627659 PMID:28000701 PMID:28492532 PMID:29196752 PMID:30303587 PMID:30311386 PMID:31163360 PMID:31554319 PMID:32747562 PMID:32853555 PMID:33111345 PMID:34008892 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
|
|
|
G |
Igsf6 |
immunoglobulin superfamily, member 6 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 22 |
ClinVar |
PMID:25741868 PMID:33492714 |
|
NCBI chr 1:175,610,167...175,620,662
Ensembl chr 1:175,610,167...175,620,722
|
|
G |
Mettl9 |
methyltransferase 9, His-X-His N1(pi)-histidine |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 22 |
ClinVar |
PMID:25741868 PMID:33492714 |
|
NCBI chr 1:175,575,805...175,623,065
Ensembl chr 1:175,577,890...175,623,061
|
|
G |
Otoa |
otoancorin |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition OMIM:607039 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11972037 PMID:16199547 PMID:17576681 PMID:19888295 PMID:23173898 PMID:23690975 PMID:24033266 PMID:24963352 PMID:25373420 PMID:25741868 PMID:26434960 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 PMID:29196752 PMID:30303587 PMID:30311386 PMID:30740825 PMID:30828794 PMID:31152317 PMID:31527525 PMID:31827275 PMID:33492714 PMID:33597575 PMID:33879512 PMID:34175691 PMID:34416374 PMID:35802133 PMID:36633841 PMID:37114731 More...
|
|
NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435
|
|
G |
Uqcrc2 |
ubiquinol cytochrome c reductase core protein 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 22 |
ClinVar |
PMID:25741868 PMID:33492714 |
|
NCBI chr 1:175,167,933...175,198,499
Ensembl chr 1:175,167,894...175,199,453
|
|
|
G |
Pcdh15 |
protocadherin related 15 |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 23 OMIM:609533 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17277737 PMID:17576681 PMID:18484607 PMID:18719945 PMID:19107147 PMID:19375528 PMID:19683999 PMID:20301442 PMID:20538994 PMID:21436283 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:22981120 PMID:23451239 PMID:23591405 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24705292 PMID:24831256 PMID:24940003 PMID:25262649 PMID:25307757 PMID:25333064 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25525159 PMID:25575603 PMID:25741868 PMID:25741898 PMID:26166082 PMID:26226137 PMID:26467025 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27058588 PMID:27068579 PMID:27440999 PMID:27460420 PMID:27743452 PMID:27861356 PMID:28000701 PMID:28281779 PMID:28492532 PMID:28847902 PMID:28944237 PMID:29568747 PMID:30029624 PMID:30054919 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30459346 PMID:30718709 PMID:31231422 PMID:32467589 PMID:32747562 PMID:33111345 PMID:33576794 PMID:34416374 PMID:34440452 PMID:34744965 PMID:34751129 PMID:35802133 PMID:35836572 PMID:36147510 PMID:36633841 More...
|
|
NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
|
|
|
G |
Rdx |
radixin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 24 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:25741916 PMID:26467025 PMID:27231709 PMID:28492532 PMID:29986705 PMID:30311386 PMID:32747562 More...
|
|
NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
|
|
|
G |
Grxcr1 |
glutaredoxin and cysteine rich domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 25 |
OMIM CTD ClinVar |
PMID:16380907 PMID:20137774 PMID:20137778 PMID:24033266 PMID:25741868 PMID:25802247 PMID:26226137 PMID:26467025 PMID:26969326 PMID:28492532 PMID:30303587 PMID:30311386 PMID:32279305 PMID:34753855 PMID:35802133 PMID:36633841 PMID:36672810 More...
|
|
NCBI chr14:40,004,169...40,126,571
Ensembl chr14:40,004,169...40,126,571
|
|
|
G |
Gab1 |
GRB2-associated binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 26 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:11101839 PMID:25741868 PMID:29408807 |
|
NCBI chr19:27,131,262...27,239,236
Ensembl chr19:27,131,262...27,239,236
|
|
|
G |
Trio |
trio Rho guanine nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 28 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32109419 |
|
NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
|
|
G |
Triobp |
TRIO and F-actin binding protein |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition OMIM:609823 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26872740 PMID:26969326 PMID:27014650 PMID:27068579 PMID:28000701 PMID:28089734 PMID:28492532 PMID:29197352 PMID:30303587 PMID:30311386 PMID:31178897 PMID:34440452 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 7:110,505,916...110,569,301
Ensembl chr 7:110,506,248...110,562,474
|
|
|
G |
Cldn14 |
claudin 14 |
|
ISO ISS |
OMIM:614035 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 29 |
OMIM MouseDO CTD ClinVar |
PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:23590985 PMID:23991001 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26969326 PMID:27838790 PMID:28492532 PMID:30303587 PMID:30311386 PMID:33105617 More...
|
|
NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
|
|
|
G |
Chd7 |
chromodomain helicase DNA binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
|
|
G |
Myo15a |
myosin XVA |
|
ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 OMIM:600316 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:9603736 PMID:10552926 PMID:11735029 PMID:16199547 PMID:17546645 PMID:17576681 PMID:17851452 PMID:17853461 PMID:19274735 PMID:19888295 PMID:20505086 PMID:20642360 PMID:21917145 PMID:22245518 PMID:22736430 PMID:22903915 PMID:23208854 PMID:23767834 PMID:23804846 PMID:23865914 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24123792 PMID:24130743 PMID:24206587 PMID:24498627 PMID:24853665 PMID:24875298 PMID:24949729 PMID:25262649 PMID:25373420 PMID:25741868 PMID:25741909 PMID:25741916 PMID:25788563 PMID:25792667 PMID:26011067 PMID:26075876 PMID:26226137 PMID:26242193 PMID:26302205 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26561413 PMID:26633542 PMID:26763877 PMID:26810297 PMID:26915297 PMID:26969326 PMID:27068579 PMID:27344577 PMID:27375115 PMID:27436265 PMID:27573290 PMID:27635202 PMID:27734841 PMID:27870113 PMID:28000701 PMID:28390610 PMID:28492532 PMID:29196752 PMID:29482514 PMID:29907799 PMID:29986705 PMID:30096381 PMID:30139988 PMID:30303587 PMID:30311386 PMID:30622556 PMID:30682115 PMID:30733538 PMID:30828794 PMID:30896630 PMID:30953472 PMID:31053783 PMID:31130284 PMID:31379920 PMID:31389194 PMID:31581539 PMID:31827275 PMID:31980526 PMID:32279305 PMID:32617096 PMID:32623615 PMID:32658404 PMID:32747562 PMID:32802042 PMID:32860223 PMID:33095980 PMID:33111345 PMID:33187236 PMID:33208113 PMID:33297549 PMID:33372036 PMID:33398081 PMID:33524517 PMID:33597575 PMID:33879512 PMID:34265623 PMID:34325055 PMID:34374074 PMID:34416374 PMID:34599368 PMID:34733312 PMID:34974475 PMID:35062939 PMID:35346193 PMID:35440622 PMID:35580552 PMID:35802133 PMID:35939872 PMID:35982127 PMID:36217262 PMID:36401330 PMID:36633841 More...
|
|
NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
|
|
|
G |
Myo3a |
myosin IIIA |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 30 | ClinVar Annotator: match by term: MYO3A-related condition OMIM:607101 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:12032315 PMID:17344846 PMID:17576681 PMID:21165622 PMID:23967202 PMID:23990876 PMID:24033266 PMID:24214986 PMID:25741868 PMID:26166082 PMID:26467025 PMID:26841241 PMID:27068579 PMID:28492532 PMID:30245029 PMID:30311386 PMID:32006683 PMID:32519820 PMID:32747562 More...
|
|
NCBI chr17:84,543,465...84,759,562
Ensembl chr17:84,543,552...84,759,042
|
|
|
G |
Whrn |
whirlin |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF OMIM:607084 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:17576681 PMID:20352026 PMID:21569298 PMID:21654738 PMID:22135276 PMID:22147658 PMID:23804846 PMID:24033266 PMID:25262649 PMID:25404053 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30245029 PMID:30311386 PMID:31541171 PMID:35114279 More...
|
|
NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
|
|
|
G |
Cdc14a |
cell division cycle 14A |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32 OMIM:608653 |
CTD ClinVar MouseDO OMIM |
PMID:12634867 PMID:24033266 PMID:25741868 PMID:27259055 PMID:28492532 PMID:29293958 PMID:31850270 PMID:31906439 PMID:32747562 PMID:34426522 More...
|
|
NCBI chr 2:204,225,540...204,380,927
Ensembl chr 2:204,225,540...204,380,927
|
|
|
G |
Esrrb |
estrogen-related receptor beta |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 35 |
OMIM CTD ClinVar |
PMID:12529709 PMID:18179891 PMID:22951369 PMID:23767834 PMID:24033266 PMID:25342930 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29636544 PMID:30828346 PMID:31389194 More...
|
|
NCBI chr 6:106,007,701...106,163,136
Ensembl chr 6:106,008,095...106,160,791
|
|
|
G |
Espn |
espin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 36 | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement | ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9763424 PMID:15286153 PMID:15930085 PMID:18973245 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29572253 PMID:30303587 PMID:30622556 PMID:32747562 PMID:33297549 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256
|
|
|
G |
Myo6 |
myosin VI |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 37 | ClinVar Annotator: match by term: MYO6-related condition OMIM:607821 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11167014 PMID:12687499 PMID:16199547 PMID:17576681 PMID:18212818 PMID:18348273 PMID:23767834 PMID:24033266 PMID:25080041 PMID:25741868 PMID:25741877 PMID:25999546 PMID:26445815 PMID:26467025 PMID:26944241 PMID:26969326 PMID:28492532 PMID:30311386 PMID:30582396 PMID:31589614 PMID:32143290 PMID:32747562 PMID:33279834 PMID:33724713 More...
|
|
NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
|
|
|
G |
Hgf |
hepatocyte growth factor |
|
ISO ISS |
OMIM:608265 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 39 DNA:deletions,mutation:intron,exon: |
OMIM MouseDO CTD ClinVar RGD |
PMID:18564920 PMID:19576567 PMID:24033266 PMID:25741868 PMID:28492532 PMID:19576567 More...
|
RGD:8548545 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
|
|
|
G |
Ceacam16 |
CEA cell adhesion molecule 16, tectorial membrane component |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 |
|
NCBI chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871
|
|
G |
Foxi1 |
forkhead box I1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 |
OMIM CTD ClinVar |
PMID:17503324 PMID:20621367 PMID:20809947 PMID:24860705 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More...
|
|
NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231
|
|
G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 |
OMIM CTD ClinVar |
PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 PMID:21458570 PMID:21849804 PMID:22612257 PMID:23869231 PMID:23918157 PMID:23924083 PMID:24193250 PMID:24378235 PMID:24561201 PMID:24860705 PMID:25372295 PMID:25741868 PMID:26467025 PMID:26867573 PMID:27171548 PMID:27677466 PMID:27875746 PMID:28492532 PMID:28747464 PMID:30733538 PMID:32062759 PMID:32233732 More...
|
|
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
|
|
G |
Lmna |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct |
ClinVar |
PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 PMID:28492532 More...
|
|
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
|
|
G |
Lpin2 |
lipin 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 |
ClinVar |
PMID:20032092 PMID:20645851 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
|
|
G |
Slc26a4 |
solute carrier family 26 member 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 DNA:mutations:multiple (human) DNA:transition:intron:g.IVS7-2A>G (human) DNA:missense mutations, insertions, snp:multiple (human) |
OMIM ClinVar CTD RGD |
PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 PMID:8964290 PMID:9070918 PMID:9398842 PMID:9500541 PMID:9536098 PMID:9604973 PMID:9618166 PMID:9618167 PMID:9920104 PMID:10190331 PMID:10571950 PMID:10602116 PMID:10700480 PMID:10718825 PMID:10861298 PMID:10874637 PMID:10878664 PMID:10902795 PMID:11317356 PMID:11375792 PMID:11405873 PMID:11502831 PMID:11558900 PMID:11700190 PMID:11716048 PMID:11748854 PMID:11905055 PMID:11919333 PMID:11932316 PMID:12112665 PMID:12354788 PMID:12642503 PMID:12676893 PMID:12788906 PMID:12920581 PMID:12974744 PMID:14508505 PMID:14679580 PMID:14715652 PMID:15099345 PMID:15279074 PMID:15355436 PMID:15531480 PMID:15574297 PMID:15611902 PMID:15679828 PMID:15689455 PMID:15720248 PMID:15747138 PMID:15811013 PMID:15933521 PMID:16053392 PMID:16086271 PMID:16199547 PMID:16283880 PMID:16460646 PMID:16570074 PMID:16684826 PMID:16711435 PMID:16773579 PMID:16791000 PMID:16914891 PMID:16924389 PMID:16950989 PMID:16952406 PMID:17125574 PMID:17146393 PMID:17309986 PMID:17322586 PMID:17357124 PMID:17443271 PMID:17503324 PMID:17576681 PMID:17697873 PMID:17718863 PMID:17766716 PMID:17851929 PMID:17876604 PMID:17940114 PMID:18167283 PMID:18250610 PMID:18274916 PMID:18283249 PMID:18285825 PMID:18310264 PMID:18322141 PMID:18381613 PMID:18427006 PMID:18585793 PMID:18641518 PMID:18665027 PMID:18813951 PMID:18988928 PMID:19017801 PMID:19040761 PMID:19169484 PMID:19189692 PMID:19204907 PMID:19287372 PMID:19318451 PMID:19426954 PMID:19429184 PMID:19509082 PMID:19565036 PMID:19578036 PMID:19608655 PMID:19615760 PMID:19620588 PMID:19645628 PMID:19648736 PMID:19718752 PMID:19744334 PMID:19786220 PMID:19787632 PMID:19888295 PMID:20128824 PMID:20146813 PMID:20301640 PMID:20553101 PMID:20583162 PMID:20597900 PMID:20601923 PMID:20621367 PMID:20623167 PMID:20668687 PMID:20826203 PMID:20842945 PMID:20981092 PMID:21045265 PMID:21154317 PMID:21366435 PMID:21416585 PMID:21551164 PMID:21557232 PMID:21704276 PMID:21961810 PMID:22116358 PMID:22116359 PMID:22116360 PMID:22285650 PMID:22289209 PMID:22384008 PMID:22389666 PMID:22412181 PMID:22509691 PMID:22717225 PMID:22796198 PMID:22884721 PMID:22903915 PMID:22975760 PMID:23151025 PMID:23151031 PMID:23185506 PMID:23208854 PMID:23266159 PMID:23273637 PMID:23280318 PMID:23296490 PMID:23336812 PMID:23385134 PMID:23401162 PMID:23504402 PMID:23555729 PMID:23617710 PMID:23638949 PMID:23705809 PMID:23718755 PMID:23755160 PMID:23770805 PMID:23804846 PMID:23838540 PMID:23918157 PMID:23958391 PMID:23965030 PMID:23967202 PMID:23980138 PMID:24007330 PMID:24033266 PMID:24051746 PMID:24105851 PMID:24156272 PMID:24222258 PMID:24224479 PMID:24245694 PMID:24248179 PMID:24338212 PMID:24341454 PMID:24599119 PMID:24612839 PMID:24853665 PMID:24860705 PMID:24875928 PMID:24913939 PMID:24949729 PMID:24989646 PMID:25149764 PMID:25262649 PMID:25266519 PMID:25290043 PMID:25317404 PMID:25372295 PMID:25373420 PMID:25394566 PMID:25468468 PMID:25488846 PMID:25491636 PMID:25525159 PMID:25572613 PMID:25587757 PMID:25724631 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25761933 PMID:25788563 PMID:25830873 PMID:25910213 PMID:25991456 PMID:25999548 PMID:26022370 PMID:26035154 PMID:26100058 PMID:26188157 PMID:26226137 PMID:26252218 PMID:26346818 PMID:26397989 PMID:26445815 PMID:26467025 PMID:26485571 PMID:26549381 PMID:26683941 PMID:26744121 PMID:26752218 PMID:26763877 PMID:26764160 PMID:26886069 PMID:26886089 PMID:26894580 PMID:26900070 PMID:26969326 PMID:27090054 PMID:27214836 PMID:27240500 PMID:27246798 PMID:27247933 PMID:27344577 PMID:27373559 PMID:27541434 PMID:27573290 PMID:27610647 PMID:27771369 PMID:27792752 PMID:27861301 PMID:27863619 PMID:27884173 PMID:27997596 PMID:28000701 PMID:28215547 PMID:28273078 PMID:28281779 PMID:28341401 PMID:28389359 PMID:28444304 PMID:28492532 PMID:28576516 PMID:28604962 PMID:28717060 PMID:28786104 PMID:28901477 PMID:28941661 PMID:28964290 PMID:28984810 PMID:29048421 PMID:29196752 PMID:29293505 PMID:29320412 PMID:29372807 PMID:29501320 PMID:29546359 PMID:29605365 PMID:29739340 PMID:29907799 PMID:29986705 PMID:30068397 PMID:30077349 PMID:30086623 PMID:30139988 PMID:30154845 PMID:30240412 PMID:30245029 PMID:30268946 PMID:30303587 PMID:30311386 PMID:30484383 PMID:30554688 PMID:30622556 PMID:30693673 PMID:30760291 PMID:30762455 PMID:30842343 PMID:30896630 PMID:31020658 PMID:31033086 PMID:31035178 PMID:31095577 PMID:31107121 PMID:31124793 PMID:31387071 PMID:31427586 PMID:31541171 PMID:31581539 PMID:31589614 PMID:31599023 PMID:31633822 PMID:31656273 PMID:31700827 PMID:31971949 PMID:32165640 PMID:32251972 PMID:32417962 PMID:32447495 PMID:32459320 PMID:32645618 PMID:32658404 PMID:32681043 PMID:32747562 PMID:33111345 PMID:33152970 PMID:33199029 PMID:33502066 PMID:33528103 PMID:33597575 PMID:33614372 PMID:33801843 PMID:34161886 PMID:34170635 PMID:34171171 PMID:34410491 PMID:34416374 PMID:34426522 PMID:34539567 PMID:34545167 PMID:34599368 PMID:34680964 PMID:34752165 PMID:34801268 PMID:35249537 PMID:35276235 PMID:35802133 PMID:35816303 PMID:36633841 PMID:36703223 PMID:11317356 PMID:18167283 PMID:21965328 PMID:19509082 More...
|
RGD:7421508, RGD:7411671, RGD:7411556, RGD:7411543 |
NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
|
|
|
G |
Ildr1 |
immunoglobulin-like domain containing receptor 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 42 | ClinVar Annotator: match by term: ILDR1-related condition OMIM:609646 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:15641023 PMID:21255762 PMID:24033266 PMID:25668204 PMID:25741868 PMID:26226137 PMID:26467025 PMID:26969326 PMID:27610647 PMID:28492532 PMID:30303587 PMID:30311386 PMID:32747562 More...
|
|
NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
|
|
|
G |
Adcy1 |
adenylate cyclase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 44 |
OMIM CTD ClinVar |
PMID:15583425 PMID:24033266 PMID:24482543 PMID:24824130 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr14:81,911,240...82,020,594
Ensembl chr14:81,911,099...82,028,969
|
|
|
G |
Cib2 |
calcium and integrin binding family member 2 |
|
ISO ISS |
OMIM:609439 ClinVar Annotator: match by term: Deafness, autosomal recessive 48 CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 PMID:26226137 PMID:26416264 PMID:26426422 PMID:26445815 PMID:28492532 PMID:28663585 PMID:29112224 PMID:30303587 PMID:30311386 PMID:34837038 More...
|
|
NCBI chr 8:54,930,265...54,947,157
|
|
G |
Sh2d7 |
SH2 domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 48 |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:54,918,399...54,930,129
Ensembl chr 8:54,918,406...54,929,726
|
|
|
G |
Marveld2 |
MARVEL domain containing 2 |
|
ISO ISS |
OMIM:610153 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 |
OMIM MouseDO CTD ClinVar |
PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:23767834 PMID:23979167 PMID:24033266 PMID:25652404 PMID:25666562 PMID:25741868 PMID:25788563 PMID:25885414 PMID:26467025 PMID:28492532 PMID:30311386 PMID:31850270 PMID:32747562 PMID:33597575 More...
|
|
NCBI chr 2:31,742,652...31,764,150
Ensembl chr 2:31,657,220...31,764,150
|
|
|
G |
Col11a2 |
collagen type XI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 53 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10677296 PMID:15558753 PMID:16033917 PMID:21204229 PMID:22246659 PMID:23967202 PMID:24033266 PMID:25633957 PMID:25741868 PMID:26445815 PMID:28492532 PMID:29456477 PMID:30311386 PMID:31299979 PMID:31680349 PMID:33111345 More...
|
|
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
|
|
|
G |
Pdzd7 |
PDZ domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 57 |
OMIM ClinVar |
PMID:16199547 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 PMID:26849169 PMID:28492532 PMID:28802369 PMID:29048736 PMID:30622556 PMID:31454969 PMID:31827275 PMID:32048449 PMID:32050993 PMID:33724713 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 1:243,888,295...243,907,778
Ensembl chr 1:243,888,281...243,906,839
|
|
|
G |
Pjvk |
pejvakin |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 59 OMIM:610220 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:16804542 PMID:17301963 PMID:17329413 PMID:17373699 PMID:17718865 PMID:17718875 PMID:19888295 PMID:21696384 PMID:21935370 PMID:23804846 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27344577 PMID:28492532 PMID:30303587 PMID:30311386 PMID:32747562 PMID:35052489 More...
|
|
NCBI chr 3:61,594,644...61,605,051
Ensembl chr 3:61,596,641...61,605,045
|
|
G |
Prkra |
protein activator of interferon induced protein kinase EIF2AK2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 59 |
ClinVar |
|
|
NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347
|
|
|
G |
Tmie |
transmembrane inner ear |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 6 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6 | ClinVar Annotator: match by term: TMIE-related condition |
OMIM CTD ClinVar |
PMID:8593615 PMID:12145746 PMID:16389551 PMID:19438934 PMID:24033266 PMID:24416283 PMID:24875298 PMID:25741868 PMID:28492532 PMID:30303587 PMID:30311386 PMID:35710363 More...
|
|
NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803
|
|
|
G |
Slc26a5 |
solute carrier family 26 member 5 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 61 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12239568 PMID:12719379 PMID:16086836 PMID:24033266 PMID:24164807 PMID:25262649 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289
|
|
|
G |
Anapc15 |
anaphase promoting complex subunit 15 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 63 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:25788562 PMID:26467025 PMID:28492532 |
|
NCBI chr 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145
|
|
G |
Lrrc51 |
leucine rich repeat containing 51 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 63 |
ClinVar |
PMID:24033266 PMID:25741868 |
|
NCBI chr 1:156,278,617...156,297,838
Ensembl chr 1:156,278,618...156,297,773
|
|
G |
Lrtomt |
leucine rich transmembrane and O-methyltransferase domain containing |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 63 OMIM:611451 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:17211611 PMID:17576681 PMID:18794526 PMID:18953341 PMID:21739586 PMID:22908982 PMID:23053991 PMID:24033266 PMID:25741868 PMID:25788562 PMID:26166082 PMID:26467025 PMID:26969326 PMID:28492532 PMID:32747562 PMID:35939872 More...
|
|
NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704
|
|
G |
Numa1 |
nuclear mitotic apparatus protein 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 63 |
ClinVar |
|
|
NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
|
|
|
G |
Dcdc2 |
doublecortin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 66 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.Q424P (human) |
OMIM ClinVar CTD RGD |
PMID:16199547 PMID:16244493 PMID:23677054 PMID:23746548 PMID:25557784 PMID:25601850 PMID:25741868 PMID:26467025 PMID:27319779 PMID:27469900 PMID:28440294 PMID:28461130 PMID:28461131 PMID:28492532 PMID:31589614 PMID:31821705 PMID:32205117 PMID:25601850 More...
|
RGD:10412291 |
NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743
|
|
|
G |
Lhfpl5 |
LHFPL tetraspan subfamily member 5 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 67 | ClinVar Annotator: match by term: LHFPL5-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16459341 PMID:16752389 PMID:24033266 PMID:25741868 PMID:25741905 PMID:27148795 PMID:28492532 PMID:30177809 PMID:30298622 PMID:30303587 PMID:32747562 More...
|
|
NCBI chr20:6,632,324...6,642,534
Ensembl chr20:6,632,362...6,642,532
|
|
|
G |
S1pr2 |
sphingosine-1-phosphate receptor 2 |
|
ISO ISS |
OMIM:610419 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 68 |
OMIM MouseDO CTD ClinVar |
PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26805784 PMID:28492532 More...
|
|
NCBI chr 8:19,503,276...19,514,169
Ensembl chr 8:19,502,627...19,523,574
|
|
|
G |
Otoa |
otoancorin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 7 |
ClinVar |
PMID:35802133 PMID:36633841 |
|
NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435
|
|
G |
Tecta |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 7 |
ClinVar |
PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 PMID:24586623 PMID:25741868 PMID:27627659 PMID:28000701 PMID:28492532 PMID:31163360 PMID:31554319 PMID:32853555 More...
|
|
NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
|
|
G |
Tmc1 |
transmembrane channel-like 1 |
|
ISO ISS |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: Deafness, autosomal recessive 7 OMIM:600974 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11850618 PMID:16134132 PMID:16199547 PMID:16287143 PMID:17576681 PMID:17877751 PMID:18414213 PMID:18616530 PMID:19187973 PMID:20373850 PMID:21117948 PMID:21250555 PMID:21252500 PMID:21917145 PMID:22105175 PMID:22607986 PMID:23208854 PMID:23767834 PMID:24033266 PMID:24416283 PMID:24875298 PMID:24949729 PMID:25491636 PMID:25741868 PMID:25741915 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 PMID:29654653 PMID:30303587 PMID:31028865 PMID:31541171 PMID:31814694 PMID:31854501 PMID:32747562 PMID:33724713 PMID:34416374 PMID:34523024 More...
|
|
NCBI chr 1:218,275,249...218,446,013
Ensembl chr 1:218,276,417...218,445,955
|
|
|
G |
Pnpt1 |
polyribonucleotide nucleotidyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 70 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11080643 PMID:23084290 PMID:23084291 PMID:24088041 PMID:25326635 PMID:25457163 PMID:25741868 PMID:26467025 PMID:26633545 PMID:27759031 PMID:28492532 PMID:28594066 PMID:28708278 PMID:30046113 PMID:30244537 PMID:30831263 PMID:31752325 PMID:32020600 PMID:32313153 PMID:33199448 More...
|
|
NCBI chr14:102,877,553...102,908,696
Ensembl chr14:102,877,553...102,908,696
|
|
|
G |
Msrb3 |
methionine sulfoxide reductase B3 |
|
ISO ISS |
OMIM:613718 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 74 |
OMIM MouseDO CTD ClinVar |
PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 |
|
NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496
|
|
|
G |
Syne4 |
spectrin repeat containing nuclear envelope family member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 76 |
OMIM CTD ClinVar |
PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28958982 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 1:85,569,409...85,573,775
Ensembl chr 1:85,569,545...85,573,760
|
|
|
G |
Loxhd1 |
lipoxygenase homology PLAT domains 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 77 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16936105 PMID:17576681 PMID:19732867 PMID:21465660 PMID:22341973 PMID:22975204 PMID:23226338 PMID:23804846 PMID:23897863 PMID:24033266 PMID:25251670 PMID:25333069 PMID:25741868 PMID:25792669 PMID:25938503 PMID:26346818 PMID:26467025 PMID:26561413 PMID:26763877 PMID:26969326 PMID:26973026 PMID:27068579 PMID:27246798 PMID:27959697 PMID:27984600 PMID:28000701 PMID:28383030 PMID:28492532 PMID:29309402 PMID:29669943 PMID:29676012 PMID:29799290 PMID:29907799 PMID:30123251 PMID:30311386 PMID:31152317 PMID:31547530 PMID:31709873 PMID:31827275 PMID:32279305 PMID:32682410 PMID:32860223 PMID:33753533 PMID:33892339 PMID:34171171 PMID:35440622 PMID:35711932 PMID:35802133 PMID:36147510 PMID:36633841 More...
|
|
NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983
|
|
|
G |
Tmem203 |
transmembrane protein 203 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 79 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867
|
|
G |
Tprn |
taperin |
|
ISO ISS |
OMIM:613307 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 79 |
OMIM MouseDO CTD ClinVar |
PMID:20170898 PMID:20170899 PMID:24033266 PMID:25741868 PMID:26969326 PMID:28492532 PMID:30303587 More...
|
|
NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642
|
|
|
G |
Tmprss3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: TMPRSS3-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3285355 PMID:9536098 PMID:11137999 PMID:11424922 PMID:11462234 PMID:11907649 PMID:12393794 PMID:12920079 PMID:15447792 PMID:16021470 PMID:16283880 PMID:16460646 PMID:16524950 PMID:17551081 PMID:17576681 PMID:19170735 PMID:21534946 PMID:21786053 PMID:22382023 PMID:22975204 PMID:23208854 PMID:23958653 PMID:23967202 PMID:24033266 PMID:24416283 PMID:24526180 PMID:24657061 PMID:24853665 PMID:25262649 PMID:25474651 PMID:25741868 PMID:25770132 PMID:26036852 PMID:26346818 PMID:26408194 PMID:26445815 PMID:26467025 PMID:26969326 PMID:27344577 PMID:28246597 PMID:28263784 PMID:28492532 PMID:28566687 PMID:28695016 PMID:28984810 PMID:29196752 PMID:29293505 PMID:29431110 PMID:29889784 PMID:30242206 PMID:30303587 PMID:30311386 PMID:30622556 PMID:31045651 PMID:31053783 PMID:31152317 PMID:31412945 PMID:31581539 PMID:31589614 PMID:31850270 PMID:31980526 PMID:32235586 PMID:32306631 PMID:32853555 PMID:32860223 PMID:34416374 PMID:34440452 PMID:34599368 PMID:34868270 PMID:35802133 PMID:35864128 PMID:36633841 More...
|
|
NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
|
|
|
G |
Ptprq |
protein tyrosine phosphatase, receptor type, Q |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84 |
OMIM CTD ClinVar |
PMID:20346435 PMID:25741868 PMID:26467025 |
|
NCBI chr 7:42,834,455...43,016,807
Ensembl chr 7:42,837,109...43,016,917
|
|
|
G |
Otogl |
otogelin-like |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 84b | ClinVar Annotator: match by term: OTOGL-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23122586 PMID:23850727 PMID:24033266 PMID:25719458 PMID:25741868 PMID:26969326 PMID:28492532 PMID:30311386 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 7:43,065,800...43,211,400
Ensembl chr 7:43,067,644...43,223,592
|
|
|
G |
Ccnf |
cyclin F |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 86 |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 More...
|
|
NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
|
|
G |
Tbc1d24 |
TBC1 domain family, member 24 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 86 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:22211675 PMID:22277662 PMID:24033266 PMID:24387994 PMID:24729539 PMID:24729547 PMID:24824130 PMID:24848745 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28726039 PMID:29358611 PMID:31216405 PMID:32004315 PMID:33619735 PMID:33986365 More...
|
|
NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
|
|
|
G |
Elmod3 |
ELMO domain containing 3 |
|
ISO ISS |
OMIM:615429 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 88 |
OMIM MouseDO CTD ClinVar |
PMID:24039609 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:104,614,665...104,653,122
Ensembl chr 4:104,614,676...104,653,053
|
|
|
G |
Kars1 |
lysyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 89 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24033266 PMID:24824130 PMID:25356970 PMID:25741868 PMID:28492532 PMID:28496994 PMID:28887846 PMID:29615062 PMID:30252186 PMID:30311386 PMID:30369941 PMID:31116475 PMID:31192300 PMID:32730690 PMID:33260297 PMID:34062854 PMID:34172899 More...
|
|
NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632
|
|
|
G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
|
|
G |
Cep135 |
centrosomal protein 135 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
PMID:28866084 |
|
NCBI chr14:31,530,538...31,595,812
Ensembl chr14:31,531,482...31,595,772
|
|
G |
Diaph1 |
diaphanous-related formin 1 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172
|
|
G |
H1f4 |
H1.4 linker histone, cluster member |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
PMID:25741868 PMID:28475857 |
|
NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403
|
|
G |
Igsf6 |
immunoglobulin superfamily, member 6 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:175,610,167...175,620,662
Ensembl chr 1:175,610,167...175,620,722
|
|
G |
Mettl9 |
methyltransferase 9, His-X-His N1(pi)-histidine |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:175,575,805...175,623,065
Ensembl chr 1:175,577,890...175,623,061
|
|
G |
Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
|
|
G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
PMID:26467025 PMID:28492532 PMID:29952689 PMID:30201499 PMID:33884488 PMID:34242285 More...
|
|
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
|
|
G |
Otoa |
otoancorin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435
|
|
G |
Otof |
otoferlin |
|
ISO ISS |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder | ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 | ClinVar Annotator: match by term: OTOF-related condition OMIM:601071 CTD Direct Evidence: marker/mechanism DNA:duplication:cds:c.1981dupG (human) DNA:missense mutation:cds:p.D1767G (mouse) DNA:missense mutation:cds:p.R1939Q (human) DNA:snps, deletion:cds:multiple (human) associated with Fever;DNA:missense mutation, deletion:p.R1157Q, c.5410_5412delGAG (human) DNA:missense mutation:cds:p.L1011P (human) DNA:snp:intron:IVS8-2A>G (human) DNA:nonsense mutation:cds:p.Q829X (human) DNA:nonsense mutation:cds:p.Y730X (human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 PMID:10903124 PMID:11483641 PMID:12114484 PMID:12127154 PMID:12525542 PMID:14635104 PMID:16097006 PMID:16199547 PMID:16226319 PMID:16283880 PMID:16371502 PMID:17036997 PMID:17512949 PMID:17576681 PMID:18381613 PMID:18804553 PMID:19250381 PMID:19461658 PMID:19636622 PMID:19888295 PMID:20146813 PMID:20211493 PMID:20224275 PMID:20230791 PMID:20301429 PMID:20504331 PMID:21117948 PMID:21216247 PMID:21557232 PMID:21935370 PMID:22575033 PMID:22607986 PMID:22906306 PMID:23208854 PMID:23562982 PMID:24001616 PMID:24033266 PMID:24053799 PMID:24746455 PMID:24814232 PMID:25262649 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25741914 PMID:25788563 PMID:25991456 PMID:26186295 PMID:26188103 PMID:26434960 PMID:26445815 PMID:26467025 PMID:26632695 PMID:26763877 PMID:26818607 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27082237 PMID:27177047 PMID:27621663 PMID:27652356 PMID:27657688 PMID:27729456 PMID:27766948 PMID:27821677 PMID:28075205 PMID:28335750 PMID:28492532 PMID:28766844 PMID:29048421 PMID:29196752 PMID:29293505 PMID:29362361 PMID:29484972 PMID:29752989 PMID:30065612 PMID:30096381 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30368385 PMID:30482216 PMID:31095577 PMID:31345219 PMID:31589614 PMID:31827501 PMID:31980526 PMID:32747562 PMID:32860223 PMID:32899707 PMID:32906206 PMID:33095980 PMID:33111345 PMID:33256196 PMID:33297549 PMID:33426078 PMID:33528103 PMID:33724713 PMID:33908410 PMID:34113375 PMID:34416374 PMID:34424407 PMID:34536124 PMID:34599368 PMID:34652575 PMID:35114279 PMID:35982127 PMID:22906306 PMID:22575033 PMID:22575033 PMID:14635104 PMID:20230791 PMID:16097006 PMID:10903124 PMID:12114484 PMID:10192385 More...
|
RGD:9585724, RGD:9491826, RGD:9491826, RGD:9491386, RGD:9479161, RGD:9479157, RGD:737640, RGD:9479156, RGD:9479153 |
NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
|
|
G |
Plp1 |
proteolipid protein 1 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032
|
|
G |
Rab33a |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
|
|
G |
Rab9b |
RAB9B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr X:100,220,897...100,231,591
Ensembl chr X:100,220,894...100,231,701
|
|
G |
Rai1 |
retinoic acid induced 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:25741868 PMID:27082237 PMID:28492532 |
|
NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
|
|
G |
Slc17a8 |
solute carrier family 17 member 8 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
PMID:27068579 PMID:28492532 |
|
NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079
|
|
G |
Slc52a2 |
solute carrier family 52 member 2 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034
|
|
G |
Tbc1d24 |
TBC1 domain family, member 24 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
|
|
G |
Tecta |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:18381613 PMID:25008054 PMID:28492532 PMID:33111345 |
|
NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
|
|
G |
Ttr |
transthyretin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:14640030 PMID:15123043 PMID:15299640 PMID:15645642 PMID:17338921 PMID:17554795 PMID:21520333 PMID:21749890 PMID:22551192 PMID:24563469 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30336828 PMID:30938420 More...
|
|
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
|
|
G |
Tubb4a |
tubulin, beta 4A class IVa |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
PMID:24706558 PMID:24850488 PMID:24974158 PMID:25168210 PMID:25356970 PMID:25741868 PMID:28492532 PMID:29451896 More...
|
|
NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
|
|
|
G |
Serpinb6a |
serpin family B member 6A |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91 |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:20451170 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr17:30,871,468...30,989,703
Ensembl chr17:30,871,468...31,014,427
|
|
|
G |
Cabp2 |
calcium binding protein 2 |
|
ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal recessive 93 OMIM:614899 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:17576681 PMID:22981119 PMID:24033266 PMID:25741868 PMID:26445815 PMID:28492532 PMID:30303587 More...
|
|
NCBI chr 1:201,374,649...201,380,469
Ensembl chr 1:201,375,276...201,380,469
|
|
|
G |
Nars2 |
asparaginyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 94 | ClinVar Annotator: match by term: Deafness, autosomal recessive 94 |
OMIM ClinVar |
PMID:25741868 PMID:25807530 PMID:28492532 |
|
NCBI chr 1:151,300,446...151,412,086
Ensembl chr 1:151,300,467...151,413,521
|
|
|
G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 97 |
CTD ClinVar OMIM |
PMID:12920089 PMID:19318576 PMID:19723643 PMID:20139696 PMID:21774103 PMID:21904579 PMID:21970370 PMID:22703879 PMID:24728327 PMID:25741868 PMID:25941349 PMID:26467025 PMID:26700204 PMID:26887047 PMID:27696107 PMID:28259294 PMID:28492532 PMID:28873162 PMID:29219214 PMID:29641532 PMID:29684080 PMID:30093976 PMID:32091409 PMID:33606809 PMID:35264596 More...
|
|
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
|
|
|
G |
Krtap10-1 |
keratin associated protein 10-1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 98 |
ClinVar |
PMID:25741868 |
|
NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,855,181...10,864,362
|
|
G |
Tspear |
thrombospondin-type laminin G domain and EAR repeats |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal recessive 98 |
OMIM CTD ClinVar |
PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 PMID:27736875 PMID:28492532 PMID:29144512 PMID:30046887 PMID:34042254 More...
|
|
NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
|
|
|
G |
Tmem132e |
transmembrane protein 132E |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 99 |
OMIM ClinVar |
PMID:12673573 PMID:25331638 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31656313 More...
|
|
NCBI chr10:67,330,863...67,386,790
Ensembl chr10:67,330,751...67,386,789
|
|