RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Hearing Loss |
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Accession: | DOID:9004538
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browse the term
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Definition: | A general term for the complete or partial loss of the ability to hear from one or both ears. |
Synonyms: | exact_synonym: | Hearing Impairment; Hypoacuses; Hypoacusis |
| narrow_synonym: | Hereditary Hearing Loss And Deafness; NONSYNDROMIC HEARING LOSS, DOMINANT; NONSYNDROMIC HEARING LOSS, MIXED; NONSYNDROMIC HEARING LOSS, RECESSIVE; NONSYNDROMIC HEARING LOSS, X-LINKED |
| primary_id: | MESH:D034381; RDO:0000324 |
For additional species annotation, visit the
Alliance of Genome Resources.
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ANAPC15 |
anaphase promoting complex subunit 15 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
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NCBI chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558
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APOE |
apolipoprotein E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19738398 |
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NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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ARC |
activity regulated cytoskeleton associated protein |
treatment |
ISO |
mRNA:decreased expression:auditory cortex: |
RGD |
PMID:18524887 PMID:18607918 |
RGD:8655535 RGD:8655538 |
NCBI chr13:36,743,027...36,744,266
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ATOH1 |
atonal bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406
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BARHL1 |
BarH like homeobox 1 |
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ISO |
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RGD |
PMID:12091321 |
RGD:14390166 |
NCBI chr 9:51,704,590...51,711,726
Ensembl chr 9:51,703,936...51,712,093
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BCL2L1 |
BCL2 like 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17697574 |
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NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
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BDNF |
brain derived neurotrophic factor |
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ISO |
mRNA:increased expression:cochlea: |
RGD |
PMID:18524887 |
RGD:8655535 |
NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
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BMP2 |
bone morphogenetic protein 2 |
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ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30872814 |
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NCBI chr24:15,199,667...15,211,509
Ensembl chr24:15,200,291...15,212,217
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BMP4 |
bone morphogenetic protein 4 |
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ISO |
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RGD |
PMID:17275231 |
RGD:8698665 |
NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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C4H10orf105 |
chromosome 4 C10orf105 homolog |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
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NCBI chr 4:22,472,365...22,478,931
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CACNA2D2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798183 |
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NCBI chr20:38,859,047...38,995,239
Ensembl chr20:38,883,530...38,993,273
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CDH23 |
cadherin related 23 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar Annotator: match by term: Hearing impairment ClinVar Annotator: match by term: Hearing loss |
ClinVar |
PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
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CHD7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:18414213 PMID:25741868 |
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NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627
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CHSY1 |
chondroitin sulfate synthase 1 |
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ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30872814 |
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NCBI chr 3:39,844,227...39,916,484
Ensembl chr 3:39,844,195...40,021,573
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CLCC1 |
chloride channel CLIC like 1 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
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NCBI chr 6:42,807,432...42,829,317
Ensembl chr 6:42,807,064...42,829,273
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CLDN14 |
claudin 14 |
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ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:11163249 PMID:15880785 PMID:22246673 |
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NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446
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CLDN9 |
claudin 9 |
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ISO |
ClinVar Annotator: match by term: Hearing loss |
ClinVar |
PMID:25741868 PMID:31175426 |
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NCBI chr 6:38,172,035...38,174,089
Ensembl chr 6:38,172,550...38,173,203
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COL11A2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 |
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NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
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COL4A3 |
collagen type IV alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Hereditary hearing loss and deafness |
ClinVar |
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NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
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COL4A4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:17396119 PMID:24033287 PMID:24854265 PMID:25741868 PMID:26934356 PMID:28632965 |
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NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189
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COL4A5 |
collagen type IV alpha 5 chain |
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ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 |
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NCBI chr X:81,982,119...82,248,428
Ensembl chr X:81,982,275...82,247,679
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CX3CL1 |
C-X3-C motif chemokine ligand 1 |
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ISO |
mRNA, protein:altered expression:cochlea |
RGD |
PMID:24781382 |
RGD:9491762 |
NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
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CX3CR1 |
C-X3-C motif chemokine receptor 1 |
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ISO |
mRNA, protein:increased expression:cochlea |
RGD |
PMID:24781382 |
RGD:9491762 |
NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
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DIAPH1 |
diaphanous related formin 1 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:24033266 PMID:25741868 PMID:32581362 |
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NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320
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DIAPH3 |
diaphanous related formin 3 |
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ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 |
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NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031
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DNMT1 |
DNA methyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21532572 |
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NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
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DSPP |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 |
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NCBI chr32:11,017,440...11,022,780
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EDNRB |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Hypoacusis |
ClinVar |
PMID:16944573 PMID:18162831 PMID:25741868 |
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NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587
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ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25440059 |
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NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162
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ESR2 |
estrogen receptor 2 |
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ISO |
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RGD |
PMID:18317592 |
RGD:8553063 |
NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
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ESRRB |
estrogen related receptor beta |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
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NCBI chr 8:49,253,877...49,424,148
Ensembl chr 8:49,253,332...49,421,332
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FOXI1 |
forkhead box I1 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed |
ClinVar |
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NCBI chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836
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GDAP1 |
ganglioside induced differentiation associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Hypoacusis |
ClinVar |
PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532 |
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NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069
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GJA1 |
gap junction protein alpha 1 |
no_association |
ISO |
DNA:polymorphisms |
RGD |
PMID:12791041 |
RGD:8662384 |
NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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GJB2 |
gap junction protein beta 2 |
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ISO |
DNA:dels,polymorphism:cds:c.235delC,c.35delG,c.585G>C(human) ClinVar Annotator: match by term: Hypoacusis ClinVar Annotator: match by term: Hearing loss ClinVar Annotator: match by term: Hearing impairment ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive DNA:mutation:cds:p.V37I(human) DNA:deletion: :c.35delG(human) |
RGD ClinVar |
PMID:1218943 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:9139825 PMID:9285800 PMID:9326398 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9600457 PMID:9620796 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10704187 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11556849 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12072059 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:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12457340 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12684873 PMID:12746422 PMID:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12865758 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14520102 PMID:14681040 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15146674 PMID:15150777 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15479191 PMID:15482471 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15769851 PMID:15790391 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16931589 PMID:16950989 PMID:16952406 PMID:17018967 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18519481 PMID:18560174 PMID:18570691 PMID:18684989 PMID:18758381 PMID:18776652 PMID:18804553 PMID:18843290 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:19586875 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19723508 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20096468 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20441744 PMID:20442751 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20601923 PMID:20639189 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20937258 PMID:20981092 PMID:21040787 PMID:21056478 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21162657 PMID:21198395 PMID:21287563 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21510145 PMID:21728791 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21815880 PMID:21868108 PMID:21910243 PMID:21912263 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22937313 PMID:22975760 PMID:22981120 PMID:22995991 PMID:23039283 PMID:23120683 PMID:23141775 PMID:23418865 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23554706 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23668481 PMID:23680645 PMID:23757202 PMID:23804846 PMID:23808595 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24022696 PMID:24033266 PMID:24123366 PMID:24158611 PMID:24256046 PMID:24346070 PMID:24503448 PMID:24529908 PMID:24611097 PMID:24624091 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24793888 PMID:24814571 PMID:24840842 PMID:24945352 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25162826 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25555641 PMID:25587757 PMID:25625422 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25808784 PMID:25937001 PMID:25999548 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26346709 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26553399 PMID:26561413 PMID:26681637 PMID:26749107 PMID:26778469 PMID:26832775 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27045574 PMID:27057829 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27466889 PMID:27480936 PMID:27481527 PMID:27501294 PMID:27534436 PMID:27623246 PMID:27785406 PMID:27792752 PMID:27843504 PMID:27884957 PMID:28000701 PMID:28271504 PMID:28489599 PMID:28492532 PMID:29106882 PMID:29140768 PMID:29362677 PMID:29501291 PMID:29921236 PMID:30094485 PMID:30168495 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:32090102 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 |
RGD:7364794 RGD:7364810 RGD:7364886 RGD:7364893 |
NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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GJB6 |
gap junction protein beta 6 |
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ISO |
p.T5M(human) |
RGD |
PMID:12490528 PMID:19173109 PMID:20858605 |
RGD:7364893 RGD:7364895 RGD:7364899 |
NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
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GPSM2 |
G protein signaling modulator 2 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
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NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690
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GRXCR1 |
glutaredoxin and cysteine rich domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:24033266 PMID:28492532 |
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NCBI chr13:39,766,910...39,882,076
Ensembl chr13:39,766,919...39,882,086
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GSDME |
gasdermin E |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed |
CTD ClinVar |
PMID:21782914 |
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NCBI chr14:38,210,975...38,286,729
Ensembl chr14:38,211,540...38,292,280
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HGF |
hepatocyte growth factor |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed |
RGD ClinVar |
PMID:14630698 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
RGD:8548550 |
NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
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IL10 |
interleukin 10 |
treatment |
ISO |
associated with Autoimmune Diseases associated with Meningitis, Pneumococcal |
RGD |
PMID:21697956 PMID:22644021 |
RGD:7364829 RGD:7364842 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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KCNE1 |
potassium voltage-gated channel subfamily E regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary hearing loss and deafness |
ClinVar |
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NCBI chr31:29,858,428...29,868,315
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G |
KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:26467025 PMID:27171548 PMID:28492532 |
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NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813
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G |
LHFPL5 |
LHFPL tetraspan subfamily member 5 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
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NCBI chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413
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G |
LMX1A |
LIM homeobox transcription factor 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29971487 |
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NCBI chr38:17,958,366...18,111,155
Ensembl chr38:17,956,961...18,109,049
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G |
LOC106560171 |
transmembrane O-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 |
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NCBI chr21:25,975,547...25,981,097
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G |
LOXHD1 |
lipoxygenase homology domains 1 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858
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G |
MANBA |
mannosidase beta |
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ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:9384606 PMID:18565776 PMID:30872814 |
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NCBI chr32:24,052,078...24,167,565
Ensembl chr32:24,038,920...24,167,535
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G |
MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30872814 |
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NCBI chr 2:43,918,210...43,996,817
Ensembl chr 2:43,917,604...43,995,209
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G |
MARVELD2 |
MARVEL domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:24033266 |
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NCBI chr 2:54,438,046...54,458,890
Ensembl chr 2:54,441,797...54,457,515
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G |
MECP2 |
methyl-CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Hypoacusis |
ClinVar |
PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 PMID:11885030 PMID:12325019 PMID:12843318 PMID:14598336 PMID:20301670 PMID:21831886 PMID:24328834 PMID:25473036 PMID:25741868 PMID:26350204 PMID:26418480 PMID:27465203 PMID:27929079 PMID:28492532 PMID:32581362 |
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NCBI chr X:121,866,721...121,876,088
Ensembl chr X:121,873,218...121,932,994
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G |
MIR96 |
microRNA mir-96 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19363478 PMID:19363479 |
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NCBI chr14:7,068,754...7,068,842
Ensembl chr14:7,068,754...7,068,842
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G |
MITF |
melanocyte inducing transcription factor |
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ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:8659547 PMID:9856573 PMID:25741868 |
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NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578
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G |
MSRB3 |
methionine sulfoxide reductase B3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hearing loss |
CTD ClinVar |
PMID:21782914 PMID:24033266 |
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NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043
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G |
MT-CYB |
mitochondrially encoded cytochrome b |
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ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:28027978 |
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NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322
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G |
MT-ND4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:28027978 |
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NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578
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G |
MT-ND5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:28027978 |
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NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598
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G |
MTHFR |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:SNP:cds:677C>T(human) |
RGD |
PMID:21385350 |
RGD:7387225 |
NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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G |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
susceptibility |
ISO |
DNA:SNP::2756A>G(human) |
RGD |
PMID:21385350 |
RGD:7387225 |
NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
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G |
MYH14 |
myosin heavy chain 14 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 |
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NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901
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G |
MYH9 |
myosin heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30872814 |
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NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
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G |
MYO15A |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
|
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NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881
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G |
MYO3A |
myosin IIIA |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
|
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NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043
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G |
MYO6 |
myosin VI |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:25741868 |
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NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724
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G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar Annotator: match by term: Hearing loss ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:21436283 PMID:23208854 PMID:24033266 PMID:25741868 PMID:26486028 PMID:26969326 PMID:27160483 PMID:28492532 PMID:30872814 |
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NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
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G |
NSDHL |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 |
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NCBI chr X:120,720,118...120,754,573
Ensembl chr X:120,720,183...120,754,143
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G |
NTF3 |
neurotrophin 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18024279 |
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NCBI chr27:39,383,017...39,454,613
Ensembl chr27:39,383,152...39,454,601
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G |
NUMA1 |
nuclear mitotic apparatus protein 1 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
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NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549
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G |
OTOA |
otoancorin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 |
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NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380
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G |
OTOF |
otoferlin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750
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G |
OTOG |
otogelin |
|
ISO |
ClinVar Annotator: match by term: Hearing loss ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:24033266 PMID:28492532 |
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NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475
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G |
OTOGL |
otogelin like |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
|
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NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956
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G |
PCDH15 |
protocadherin related 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
CTD ClinVar |
PMID:30029624 |
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NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
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G |
PDE5A |
phosphodiesterase 5A |
treatment |
ISO |
|
RGD |
PMID:22270721 |
RGD:7775056 |
NCBI chr32:38,272,573...38,407,517
Ensembl chr32:38,244,338...38,407,522
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G |
PJVK |
pejvakin |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:24033266 |
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NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249
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G |
PLS1 |
plastin 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 PMID:30872814 PMID:31397523 PMID:31432506 |
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NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202
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G |
POMT1 |
protein O-mannosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypoacusis |
ClinVar |
PMID:12369018 PMID:16575835 PMID:17559086 PMID:18640039 PMID:18752264 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24304607 PMID:24491487 PMID:25741868 PMID:28492532 PMID:32860008 |
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NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
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G |
PRKG1 |
protein kinase cGMP-dependent 1 |
|
ISO |
|
RGD |
PMID:22270721 |
RGD:7775056 |
NCBI chr26:35,732,974...36,932,744
Ensembl chr26:35,737,242...36,932,729
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G |
PRKRA |
protein activator of interferon induced protein kinase EIF2AK2 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:24033266 |
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NCBI chr36:22,061,226...22,080,324
Ensembl chr36:22,061,461...22,080,612
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G |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, X-Linked |
ClinVar |
|
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NCBI chr X:81,150,537...81,171,521
Ensembl chr X:81,150,536...81,212,689
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G |
PSAP |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
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G |
PTPRQ |
protein tyrosine phosphatase receptor type Q |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 |
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NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762
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G |
PTPRS |
protein tyrosine phosphatase receptor type S |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30872814 |
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NCBI chr20:54,575,853...54,672,141
Ensembl chr20:54,575,895...54,672,068
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G |
RDX |
radixin |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
|
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NCBI chr 5:22,555,913...22,642,822
Ensembl chr 5:22,571,286...22,642,811
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G |
RPGR |
retinitis pigmentosa GTPase regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12920075 |
|
NCBI chr X:33,056,371...33,105,036
Ensembl chr X:32,745,020...33,330,841
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G |
SF3B4 |
splicing factor 3b subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Hereditary hearing loss and deafness |
ClinVar |
PMID:25741868 |
|
NCBI chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991
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G |
SH3PXD2B |
SH3 and PX domains 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19669234 |
|
NCBI chr 4:39,854,213...39,950,704
Ensembl chr 4:39,854,211...39,949,958
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G |
SIX1 |
SIX homeobox 1 |
|
ISO |
DNA:missense mutation:cds:p.E121G (mouse) DNA:mutation:cds:c.373G >A(p.E125K)(human) |
RGD |
PMID:15141091 PMID:19389353 |
RGD:8554876 RGD:8554879 |
NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534
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G |
SLC12A2 |
solute carrier family 12 member 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing loss |
ClinVar |
PMID:32294086 PMID:32658972 |
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NCBI chr11:17,143,943...17,256,248
Ensembl chr11:17,143,943...17,253,695
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G |
SLC26A4 |
solute carrier family 26 member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar Annotator: match by term: Hearing impairment ClinVar Annotator: match by term: Hearing loss |
CTD ClinVar |
PMID:22116360 PMID:24033266 PMID:25741868 PMID:29320412 |
|
NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212
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G |
SLC26A5 |
solute carrier family 26 member 5 |
no_association |
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive DNA:snp:intron:IVS2-2A>G (human) |
RGD ClinVar |
PMID:12719379 PMID:15319415 PMID:16086836 |
RGD:9479049 RGD:9479050 RGD:9479051 |
NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940
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G |
SLC29A3 |
solute carrier family 29 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20140240 |
|
NCBI chr 4:22,094,899...22,135,066
Ensembl chr 4:22,097,764...22,133,197
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G |
SLC33A1 |
solute carrier family 33 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22243965 |
|
NCBI chr23:49,522,325...49,548,004
Ensembl chr23:49,523,852...49,547,904
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G |
SOD1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
RGD CTD |
PMID:11474137 PMID:16055286 |
RGD:1581213 |
NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
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G |
STAT1 |
signal transducer and activator of transcription 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20712533 |
|
NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178
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G |
STRC |
stereocilin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 |
|
NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785
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G |
TECTA |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar Annotator: match by term: Hypoacusis ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 PMID:24586623 PMID:25741868 PMID:27627659 PMID:28000701 |
|
NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147
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G |
TJP2 |
tight junction protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21782914 |
|
NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654
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|
G |
TLR2 |
toll like receptor 2 |
susceptibility |
ISO |
associated with Meningitis,Bacterial; DNA:haplotype: :2477G>A(rs5743708)(human) |
RGD |
PMID:22662111 |
RGD:7800663 |
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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|
G |
TLR4 |
toll like receptor 4 |
susceptibility |
ISO |
associated with Meningitis,Bacterial; DNA:SNP,haplotype: :896A>G(rs4986790)(human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:21148032 PMID:22662111 |
RGD:7800663 |
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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G |
TLR9 |
toll like receptor 9 |
|
ISO |
associated with Meningitis,Bacterial; DNA:SNP: :-1237T>C(rs5743836)(human) |
RGD |
PMID:22662111 |
RGD:7800663 |
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
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G |
TMC1 |
transmembrane channel like 1 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
|
|
NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
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|
G |
TMIE |
transmembrane inner ear |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
|
|
NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262
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|
G |
TMPRSS3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:24033266 PMID:25741868 |
|
NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520
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|
G |
TNF |
tumor necrosis factor |
|
ISO |
associated with Cytomegalovirus Infections;protein:increased expression:scala tympani: |
RGD |
PMID:22001951 |
RGD:7394702 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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|
G |
UCP2 |
uncoupling protein 2 |
|
ISO |
mRNA, protein:increased expression:cochlea (rat) |
RGD |
PMID:22543089 |
RGD:10045653 |
NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128
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|
G |
UCP3 |
uncoupling protein 3 |
|
ISO |
mRNA, protein:increased expression:cochlea (rat) |
RGD |
PMID:22543089 |
RGD:10045653 |
NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639
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G |
USH1C |
USH1 protein network component harmonin |
|
ISO |
DNA:mutations:cds: ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
RGD ClinVar |
PMID:12136232 |
RGD:8694454 |
NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
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|
G |
USH1G |
USH1 protein network component sans |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hearing impairment |
CTD ClinVar |
PMID:30029624 PMID:30872814 |
|
NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900
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|
G |
USH2A |
usherin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment ClinVar Annotator: match by term: Hypoacusis |
RGD ClinVar |
PMID:14970843 PMID:15015129 PMID:15241801 PMID:16098008 PMID:16963483 PMID:17360538 PMID:18273898 PMID:18463160 PMID:18641288 PMID:19683999 PMID:19881469 PMID:21569298 PMID:22004887 PMID:22135276 PMID:24033266 PMID:24944099 PMID:25262649 PMID:25333064 PMID:25342620 PMID:25575603 PMID:25741868 PMID:25999674 PMID:26927203 PMID:27460420 PMID:28041643 PMID:28157192 PMID:28492532 PMID:29293505 PMID:30718709 PMID:30872814 |
RGD:8547954 |
NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 |
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NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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WHRN |
whirlin |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
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NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977
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SERAC1 |
serine active site containing 1 |
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ISO |
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OMIM |
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NCBI chr 1:47,599,802...47,651,034
Ensembl chr 1:47,578,472...47,669,494
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MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: Aminoglycoside-induced deafness |
ClinVar |
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:10577941 PMID:16152638 PMID:17659260 PMID:20301595 PMID:25741868 |
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NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
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TRMU |
tRNA mitochondrial 2-thiouridylase |
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ISO |
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OMIM |
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NCBI chr10:19,841,813...19,859,514
Ensembl chr10:19,841,854...19,859,470
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PITX2 |
paired like homeodomain 2 |
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ISO |
DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) |
RGD |
PMID:17701896 |
RGD:12910562 |
NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
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PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
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OMIM |
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NCBI chr X:81,150,537...81,171,521
Ensembl chr X:81,150,536...81,212,689
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HOXA1 |
homeobox A1 |
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ISO |
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OMIM |
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NCBI chr14:40,267,033...40,272,212
Ensembl chr14:40,267,528...40,269,681
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HOXA2 |
homeobox A2 |
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ISO |
ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome |
ClinVar |
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NCBI chr14:40,273,992...40,276,975
Ensembl chr14:40,274,469...40,276,239
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FDXR |
ferredoxin reductase |
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ISO |
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OMIM |
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NCBI chr 9:5,567,411...5,577,427
Ensembl chr 9:5,567,328...5,577,277
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DIAPH3 |
diaphanous related formin 3 |
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ISO |
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OMIM |
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NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031
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DNMT1 |
DNA methyltransferase 1 |
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ISO |
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OMIM |
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NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
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ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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ISO |
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OMIM |
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NCBI chr25:36,833,246...36,858,846
Ensembl chr25:36,834,196...36,858,819
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DSPP |
dentin sialophosphoprotein |
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ISO |
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OMIM |
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NCBI chr32:11,017,440...11,022,780
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MYH14 |
myosin heavy chain 14 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 4 |
ClinVar |
PMID:15015131 PMID:15845534 PMID:16222661 PMID:23967202 PMID:24033266 PMID:24082139 PMID:25741868 PMID:26284702 PMID:26346818 PMID:26467025 PMID:27393652 PMID:28492532 PMID:30828794 |
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NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901
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GJB2 |
gap junction protein beta 2 |
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ISO |
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OMIM |
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NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA |
ClinVar |
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NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
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GREB1L |
GREB1 like retinoic acid receptor coactivator |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA |
ClinVar |
PMID:25741868 |
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NCBI chr 7:66,489,124...66,758,207
Ensembl chr 7:66,503,999...66,639,013
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G |
PDE1C |
phosphodiesterase 1C |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA |
ClinVar |
PMID:29860631 |
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NCBI chr14:44,250,612...44,543,818
Ensembl chr14:44,145,534...44,644,937
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G |
PLS1 |
plastin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA |
ClinVar |
PMID:31397523 |
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NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202
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DIAPH1 |
diaphanous related formin 1 |
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ISO |
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OMIM |
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NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320
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EYA4 |
EYA transcriptional coactivator and phosphatase 4 |
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ISO |
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OMIM |
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NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201
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MYO7A |
myosin VIIA |
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ISO |
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OMIM |
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NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
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TECTA |
tectorin alpha |
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ISO |
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OMIM |
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NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147
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BRCA1 |
BRCA1 DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 13 |
ClinVar |
PMID:1157798 PMID:11802208 PMID:12161611 PMID:15744030 PMID:15923272 PMID:16489001 PMID:17403394 PMID:18036263 PMID:19404736 PMID:20516115 PMID:21702907 PMID:22034289 PMID:22889855 PMID:23867111 PMID:24055113 PMID:25637381 PMID:25741868 PMID:26287763 PMID:26467025 PMID:26689913 PMID:27495310 PMID:28024868 PMID:28492532 PMID:28781887 PMID:30209399 PMID:30263132 PMID:30458859 PMID:30765603 |
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NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
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COL11A2 |
collagen type XI alpha 2 chain |
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ISO |
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OMIM |
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NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
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POU4F3 |
POU class 4 homeobox 3 |
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ISO |
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OMIM |
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NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161
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STRC |
stereocilin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 16 |
ClinVar |
PMID:22147502 PMID:24033266 |
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NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785
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G |
TMC1 |
transmembrane channel like 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 16 |
ClinVar |
PMID:18381613 PMID:18616530 PMID:19187973 PMID:21917145 PMID:24033266 |
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NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
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MYH9 |
myosin heavy chain 9 |
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ISO |
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OMIM |
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NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
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ACTG1 |
actin gamma 1 |
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ISO |
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OMIM |
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NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328
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G |
MYO6 |
myosin VI |
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ISO |
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OMIM |
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NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724
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SIX1 |
SIX homeobox 1 |
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ISO |
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OMIM |
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NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534
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SLC17A8 |
solute carrier family 17 member 8 |
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ISO |
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OMIM |
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NCBI chr15:39,443,790...39,489,988
Ensembl chr15:39,443,518...39,486,595
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REST |
RE1 silencing transcription factor |
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ISO |
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OMIM |
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NCBI chr13:49,041,082...49,062,596
Ensembl chr13:49,041,047...49,059,388
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GRHL2 |
grainyhead like transcription factor 2 |
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ISO |
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OMIM |
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NCBI chr13:3,204,898...3,362,533
Ensembl chr13:3,204,925...3,362,096
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KCNQ4 |
potassium voltage-gated channel subfamily Q member 4 |
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ISO |
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OMIM |
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NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093
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GJB3 |
gap junction protein beta 3 |
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ISO |
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OMIM |
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NCBI chr15:7,175,010...7,177,145
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NLRP3 |
NLR family pyrin domain containing 3 |
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ISO |
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OMIM |
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NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
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G |
TMC1 |
transmembrane channel like 1 |
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ISO |
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OMIM |
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NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
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G |
COL11A1 |
collagen type XI alpha 1 chain |
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ISO |
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OMIM |
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NCBI chr 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012
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G |
GJB2 |
gap junction protein beta 2 |
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ISO |
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OMIM |
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NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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GJB6 |
gap junction protein beta 6 |
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ISO |
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OMIM |
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NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
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CRYM |
crystallin mu |
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ISO |
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OMIM |
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NCBI chr 6:24,187,073...24,204,304
Ensembl chr 6:24,187,121...24,204,304
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G |
P2RX2 |
purinergic receptor P2X 2 |
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ISO |
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OMIM |
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NCBI chr26:480,370...485,527
Ensembl chr26:482,425...485,502
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G |
CCDC50 |
coiled-coil domain containing 50 |
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ISO |
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OMIM |
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NCBI chr34:23,168,594...23,243,221
Ensembl chr34:23,168,525...23,258,497
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MYO1A |
myosin IA |
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ISO |
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OMIM |
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NCBI chr10:1,159,816...1,194,452
Ensembl chr10:1,159,812...1,193,153
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G |
MYH14 |
myosin heavy chain 14 |
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ISO |
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OMIM |
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NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901
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G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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ISO |
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OMIM |
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NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334
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GSDME |
gasdermin E |
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ISO |
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OMIM |
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NCBI chr14:38,210,975...38,286,729
Ensembl chr14:38,211,540...38,292,280
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G |
MIR96 |
microRNA mir-96 |
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ISO |
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OMIM |
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NCBI chr14:7,068,754...7,068,842
Ensembl chr14:7,068,754...7,068,842
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G |
TJP2 |
tight junction protein 2 |
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ISO |
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OMIM |
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NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654
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G |
POU4F3 |
POU class 4 homeobox 3 |
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ISO |
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OMIM |
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NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161
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G |
PAPPA |
pappalysin 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
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NCBI chr11:69,979,295...70,220,256
Ensembl chr11:69,982,268...70,219,550
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G |
TNC |
tenascin C |
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ISO |
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OMIM |
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NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281
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G |
TNFSF8 |
TNF superfamily member 8 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
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NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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ISO |
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OMIM |
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NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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G |
DIABLO |
diablo IAP-binding mitochondrial protein |
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ISO |
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OMIM |
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NCBI chr26:7,125,320...7,144,884
Ensembl chr26:7,125,405...7,144,308
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G |
TBC1D24 |
TBC1 domain family member 24 |
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ISO |
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OMIM |
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NCBI chr 6:38,531,547...38,557,472
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CD164 |
CD164 molecule |
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ISO |
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OMIM |
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NCBI chr12:66,295,444...66,309,691
Ensembl chr12:66,297,248...66,310,186
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G |
KITLG |
KIT ligand |
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ISO |
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OMIM |
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NCBI chr15:29,591,068...29,671,985
Ensembl chr15:29,591,170...29,671,974
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G |
LMX1A |
LIM homeobox transcription factor 1 alpha |
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ISO |
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OMIM |
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NCBI chr38:17,958,366...18,111,155
Ensembl chr38:17,956,961...18,109,049
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G |
MCM2 |
minichromosome maintenance complex component 2 |
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ISO |
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OMIM |
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NCBI chr20:1,682,928...1,702,689
Ensembl chr20:1,682,886...1,702,366
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G |
DMXL2 |
Dmx like 2 |
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ISO |
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OMIM |
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NCBI chr30:17,156,077...17,308,641
Ensembl chr30:17,156,791...17,308,803
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G |
SLC44A4 |
solute carrier family 44 member 4 |
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ISO |
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OMIM |
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NCBI chr12:1,328,276...1,340,752
Ensembl chr12:1,328,399...1,340,778
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G |
PTPRQ |
protein tyrosine phosphatase receptor type Q |
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ISO |
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OMIM |
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NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762
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G |
PDE1C |
phosphodiesterase 1C |
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ISO |
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OMIM |
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NCBI chr14:44,250,612...44,543,818
Ensembl chr14:44,145,534...44,644,937
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G |
TRRAP |
transformation/transcription domain associated protein |
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ISO |
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OMIM |
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NCBI chr 6:10,519,734...10,635,175
Ensembl chr 6:10,519,711...10,632,776
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G |
PLS1 |
plastin 1 |
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ISO |
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OMIM |
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NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202
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G |
ABCC1 |
ATP binding cassette subfamily C member 1 |
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ISO |
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OMIM |
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NCBI chr 6:27,855,702...27,950,140
Ensembl chr 6:27,855,702...27,989,331
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G |
SLC12A2 |
solute carrier family 12 member 2 |
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ISO |
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OMIM |
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NCBI chr11:17,143,943...17,256,248
Ensembl chr11:17,143,943...17,253,695
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G |
SCD5 |
stearoyl-CoA desaturase 5 |
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ISO |
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OMIM |
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NCBI chr32:6,594,607...6,745,379
Ensembl chr32:6,595,424...6,745,308
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G |
COCH |
cochlin |
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ISO |
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OMIM |
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NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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ISO |
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OMIM |
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NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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G |
CDH23 |
cadherin related 23 |
|
ISO |
DNA:missense mutations:multiple |
RGD |
PMID:17850630 |
RGD:8662281 |
NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
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G |
CLIC5 |
chloride intracellular channel 5 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
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NCBI chr12:14,160,524...14,318,174
Ensembl chr12:14,144,390...14,318,582
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G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 PMID:9600457 PMID:9620796 PMID:9819448 PMID:10204859 PMID:10369869 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10807696 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11483639 PMID:11493200 PMID:11668644 PMID:11918723 PMID:12072059 PMID:12081719 PMID:12172392 PMID:12176036 PMID:12239718 PMID:12522556 PMID:12684873 PMID:12786762 PMID:14070830 PMID:14986832 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15359540 PMID:15365987 PMID:15482471 PMID:15666300 PMID:15954104 PMID:15967879 PMID:16088916 PMID:16336662 PMID:16380907 PMID:16773579 PMID:16868655 PMID:17428550 PMID:17553572 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18804553 PMID:18925674 PMID:18985073 PMID:19371219 PMID:19375528 PMID:19925344 PMID:20073550 PMID:20236118 PMID:20301449 PMID:20739944 PMID:20815033 PMID:21056478 PMID:21465647 PMID:21468573 PMID:21910243 PMID:22567152 PMID:22855627 PMID:22975760 PMID:22981120 PMID:23489192 PMID:23757202 PMID:24033266 PMID:24158611 PMID:24346070 PMID:25741868 PMID:25937001 PMID:25999548 PMID:26467025 PMID:26940866 PMID:26969326 PMID:28492532 PMID:29362677 PMID:29501291 PMID:30311386 PMID:30872814 |
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NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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G |
GJB3 |
gap junction protein beta 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10587579 |
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NCBI chr15:7,175,010...7,177,145
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G |
GMPPB |
GDP-mannose pyrophosphorylase B |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:23768512 PMID:23894383 PMID:25741868 PMID:26133662 PMID:28492532 |
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NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
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GPSM2 |
G protein signaling modulator 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:20602914 PMID:22578326 |
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NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690
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LOXHD1 |
lipoxygenase homology domains 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 PMID:28000701 PMID:28492532 |
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NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858
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MYH9 |
myosin heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
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NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
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OTOF |
otoferlin |
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ISO |
DNA:missense mutation:cds:p.I318N (mouse) ClinVar Annotator: match by term: Deafness, autosomal recessive |
RGD ClinVar |
PMID:17967520 PMID:27082237 |
RGD:9479154 |
NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750
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SLC26A4 |
solute carrier family 26 member 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
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NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212
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PPIP5K2 |
diphosphoinositol pentakisphosphate kinase 2 |
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ISO |
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OMIM |
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NCBI chr 3:8,013,879...8,083,177
Ensembl chr 3:8,002,012...8,087,684
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GRXCR2 |
glutaredoxin and cysteine rich domain containing 2 |
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ISO |
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OMIM |
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NCBI chr 2:40,310,285...40,330,200
Ensembl chr 2:40,315,807...40,328,240
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EPS8 |
epidermal growth factor receptor pathway substrate 8 |
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ISO |
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OMIM |
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NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770
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CLIC5 |
chloride intracellular channel 5 |
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ISO |
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OMIM |
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NCBI chr12:14,160,524...14,318,174
Ensembl chr12:14,144,390...14,318,582
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RIPOR2 |
RHO family interacting cell polarization regulator 2 |
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ISO |
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OMIM |
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NCBI chr35:22,823,053...23,041,765
Ensembl chr35:22,824,106...23,041,743
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G |
EPS8 |
epidermal growth factor receptor pathway substrate 8 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 |
ClinVar |
PMID:28492532 |
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NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770
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EPS8L2 |
EPS8 like 2 |
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ISO |
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OMIM |
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NCBI chr18:25,741,166...25,755,310
Ensembl chr18:25,733,090...25,755,658
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WBP2 |
WW domain binding protein 2 |
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ISO |
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OMIM |
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NCBI chr 9:4,743,476...4,752,301
Ensembl chr 9:4,743,539...4,752,270
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ROR1 |
receptor tyrosine kinase like orphan receptor 1 |
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ISO |
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OMIM |
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NCBI chr 5:46,010,097...46,477,882
Ensembl chr 5:46,013,195...46,190,880
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ESRP1 |
epithelial splicing regulatory protein 1 |
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ISO |
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OMIM |
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NCBI chr29:39,322,516...39,388,363
Ensembl chr29:39,333,117...39,387,337
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COCH |
cochlin |
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ISO |
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OMIM |
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NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550
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G |
MPZL2 |
myelin protein zero like 2 |
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ISO |
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OMIM |
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NCBI chr 5:15,446,803...15,458,667
Ensembl chr 5:15,447,104...15,458,515
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BDP1 |
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB |
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ISO |
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OMIM |
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NCBI chr 2:54,654,406...54,743,443
Ensembl chr 2:54,654,481...54,740,787
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G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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ISO |
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OMIM |
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NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334
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LOC489534 |
GRB2 related adaptor protein |
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ISO |
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OMIM |
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NCBI chr 5:41,014,193...41,038,965
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CLDN9 |
claudin 9 |
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ISO |
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OMIM |
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NCBI chr 6:38,172,035...38,174,089
Ensembl chr 6:38,172,550...38,173,203
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ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
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OMIM |
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NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
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C4H10orf105 |
chromosome 4 C10orf105 homolog |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:17850630 PMID:18273900 PMID:18429043 PMID:20146813 PMID:21228398 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22899989 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 4:22,472,365...22,478,931
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CDH23 |
cadherin related 23 |
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ISO |
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OMIM |
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NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
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G |
GJB2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
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NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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PSAP |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 |
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NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
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GIPC3 |
GIPC PDZ domain containing family member 3 |
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ISO |
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OMIM |
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NCBI chr20:55,833,876...55,837,621
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CATSPER2 |
cation channel sperm associated 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 |
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NCBI chr30:10,471,798...10,487,948
Ensembl chr30:10,471,814...10,487,739
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G |
LOC478277 |
creatine kinase U-type, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
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NCBI chr30:10,438,566...10,444,532
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STRC |
stereocilin |
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ISO |
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OMIM |
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NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785
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G |
USH1C |
USH1 protein network component harmonin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 18 |
ClinVar |
PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:23380860 PMID:24033266 PMID:24416283 PMID:24498627 PMID:24875298 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27743452 PMID:28041643 PMID:28492532 PMID:30096381 PMID:30718709 |
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NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
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G |
USH1C |
USH1 protein network component harmonin |
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ISO |
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OMIM |
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NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
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OTOG |
otogelin |
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ISO |
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OMIM |
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NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475
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G |
CRYL1 |
crystallin lambda 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 |
ClinVar |
PMID:15994881 PMID:17041943 PMID:18324688 PMID:20236118 PMID:28492532 |
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NCBI chr25:17,551,586...17,733,754
Ensembl chr25:17,562,926...17,733,630
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G |
EEF1AKMT1 |
EEF1A lysine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
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NCBI chr25:17,357,251...17,382,098
Ensembl chr25:17,357,328...17,381,821
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G |
GJA3 |
gap junction protein alpha 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
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NCBI chr25:17,986,270...18,004,344
Ensembl chr25:18,002,817...18,004,160
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G |
GJB2 |
gap junction protein beta 2 |
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ISO |
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OMIM |
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NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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G |
GJB3 |
gap junction protein beta 3 |
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ISO |
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OMIM |
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NCBI chr15:7,175,010...7,177,145
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G |
GJB4 |
gap junction protein beta 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:17259707 PMID:25333454 PMID:25741868 |
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NCBI chr15:7,193,183...7,195,586
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G |
GJB6 |
gap junction protein beta 6 |
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ISO |
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OMIM |
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NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
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G |
IFT88 |
intraflagellar transport 88 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
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NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266
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G |
IL17D |
interleukin 17D |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
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NCBI chr25:17,386,815...17,390,315
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G |
XPO4 |
exportin 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
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NCBI chr25:17,230,401...17,352,600
Ensembl chr25:17,230,031...17,348,031
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G |
GJB2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9422505 PMID:9482292 PMID:9529365 PMID:9600457 PMID:9620796 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10369869 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10980526 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:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11556849 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11807148 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:12064630 PMID:12072059 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:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12865758 PMID:12885339 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14520102 PMID:14571368 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15479191 PMID:15482471 PMID:15617550 PMID:15638823 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15994881 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16950989 PMID:16952406 PMID:17018967 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17331080 PMID:17357124 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17505205 PMID:17553572 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18324688 PMID:18414213 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:19586875 PMID:19707039 PMID:19715472 PMID:19723508 PMID:19814620 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20095872 PMID:20096468 PMID:20154630 PMID:20201936 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20497192 PMID:20563649 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20981092 PMID:21056478 PMID:21094084 PMID:21122151 PMID:21162657 PMID:21465647 PMID:21468573 PMID:21488715 PMID:21776002 PMID:21811586 PMID:21815880 PMID:21910243 PMID:22000900 PMID:22011219 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22855627 PMID:22937313 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23141775 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23554706 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23668481 PMID:23680645 PMID:23757202 PMID:23804846 PMID:23808595 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24123366 PMID:24158611 PMID:24341454 PMID:24346070 PMID:24529908 PMID:24611097 PMID:24624091 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24793888 PMID:24814571 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25087612 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25555641 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25937001 PMID:25999548 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26681637 PMID:26778469 PMID:26832775 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:27045574 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27466889 PMID:27480936 PMID:27481527 PMID:27501294 PMID:27610647 PMID:27623246 PMID:27785406 PMID:27792752 PMID:27843504 PMID:27884957 PMID:28000701 PMID:28489599 PMID:28492532 PMID:29362677 PMID:29501291 PMID:29921236 PMID:30094485 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:32090102 PMID:115556849 PMID:163800907 |
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NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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G |
GJB6 |
gap junction protein beta 6 |
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ISO |
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OMIM |
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NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
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G |
MYO7A |
myosin VIIA |
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ISO |
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OMIM |
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NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
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G |
TMC1 |
transmembrane channel like 1 |
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ISO |
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 |
ClinVar |
PMID:18381613 PMID:18616530 PMID:19187973 PMID:21917145 PMID:24033266 |
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NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
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G |
TECTA |
tectorin alpha |
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ISO |
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OMIM |
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NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147
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G |
OTOA |
otoancorin |
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ISO |
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OMIM |
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NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380
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G |
PCDH15 |
protocadherin related 15 |
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ISO |
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OMIM |
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NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
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G |
RDX |
radixin |
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ISO |
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OMIM |
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NCBI chr 5:22,555,913...22,642,822
Ensembl chr 5:22,571,286...22,642,811
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G |
GRXCR1 |
glutaredoxin and cysteine rich domain containing 1 |
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ISO |
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OMIM |
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NCBI chr13:39,766,910...39,882,076
Ensembl chr13:39,766,919...39,882,086
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G |
GAB1 |
GRB2 associated binding protein 1 |
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ISO |
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OMIM |
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NCBI chr19:10,269...117,808
Ensembl chr19:12,616...156,694
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G |
TRIO |
trio Rho guanine nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 28 |
ClinVar |
PMID:25741868 PMID:32109419 |
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NCBI chr34:271,572...505,656
Ensembl chr34:272,290...505,636
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G |
TRIOBP |
TRIO and F-actin binding protein |
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ISO |
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OMIM |
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NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083
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G |
CLDN14 |
claudin 14 |
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ISO |
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OMIM |
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NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446
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G |
MYO15A |
myosin XVA |
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ISO |
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OMIM |
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NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881
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MYO3A |
myosin IIIA |
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ISO |
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OMIM |
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NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043
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WHRN |
whirlin |
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ISO |
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OMIM |
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NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977
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CDC14A |
cell division cycle 14A |
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ISO |
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OMIM |
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NCBI chr 6:49,429,675...49,678,376
Ensembl chr 6:49,497,939...49,693,665
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ESRRB |
estrogen related receptor beta |
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ISO |
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OMIM |
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NCBI chr 8:49,253,877...49,424,148
Ensembl chr 8:49,253,332...49,421,332
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ESPN |
espin |
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ISO |
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OMIM |
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NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676
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MYO6 |
myosin VI |
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ISO |
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OMIM |
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NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724
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HGF |
hepatocyte growth factor |
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ISO |
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OMIM |
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NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
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FOXI1 |
forkhead box I1 |
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ISO |
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OMIM |
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NCBI chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836
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KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
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ISO |
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OMIM |
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NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813
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LMNA |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 |
ClinVar |
PMID:15205219 PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 PMID:28492532 |
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NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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SLC26A4 |
solute carrier family 26 member 4 |
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ISO |
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OMIM |
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NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212
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ILDR1 |
immunoglobulin like domain containing receptor 1 |
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ISO |
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OMIM |
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NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949
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ADCY1 |
adenylate cyclase 1 |
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ISO |
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OMIM |
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NCBI chr16:1,064,644...1,166,864
Ensembl chr16:1,037,162...1,167,094
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CIB2 |
calcium and integrin binding family member 2 |
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ISO |
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OMIM |
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MARVELD2 |
MARVEL domain containing 2 |
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ISO |
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OMIM |
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NCBI chr 2:54,438,046...54,458,890
Ensembl chr 2:54,441,797...54,457,515
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COL11A2 |
collagen type XI alpha 2 chain |
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ISO |
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OMIM |
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NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
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PDZD7 |
PDZ domain containing 7 |
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ISO |
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OMIM |
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NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784
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PJVK |
pejvakin |
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ISO |
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OMIM |
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NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249
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PRKRA |
protein activator of interferon induced protein kinase EIF2AK2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 59 |
ClinVar |
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NCBI chr36:22,061,226...22,080,324
Ensembl chr36:22,061,461...22,080,612
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TMIE |
transmembrane inner ear |
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ISO |
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OMIM |
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NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262
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SLC26A5 |
solute carrier family 26 member 5 |
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ISO |
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OMIM |
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NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940
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ANAPC15 |
anaphase promoting complex subunit 15 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 63 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558
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LOC106560171 |
transmembrane O-methyltransferase |
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ISO |
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OMIM |
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NCBI chr21:25,975,547...25,981,097
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NUMA1 |
nuclear mitotic apparatus protein 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 63 |
ClinVar |
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NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549
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DCDC2 |
doublecortin domain containing 2 |
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ISO |
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OMIM |
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NCBI chr35:22,264,484...22,422,769
Ensembl chr35:22,266,282...22,422,776
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LHFPL5 |
LHFPL tetraspan subfamily member 5 |
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ISO |
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OMIM |
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NCBI chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413
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S1PR2 |
sphingosine-1-phosphate receptor 2 |
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ISO |
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OMIM |
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NCBI chr20:50,855,505...50,862,985
Ensembl chr20:50,860,591...50,861,649
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TMC1 |
transmembrane channel like 1 |
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ISO |
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OMIM |
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NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
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PNPT1 |
polyribonucleotide nucleotidyltransferase 1 |
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ISO |
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OMIM |
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NCBI chr10:56,478,771...56,520,992
Ensembl chr10:56,478,680...56,520,967
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MSRB3 |
methionine sulfoxide reductase B3 |
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ISO |
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OMIM |
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NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043
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SYNE4 |
spectrin repeat containing nuclear envelope family member 4 |
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ISO |
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OMIM |
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NCBI chr 1:116,676,365...116,686,911
Ensembl chr 1:116,670,841...116,680,515
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LMNA |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 77 |
ClinVar |
PMID:15205219 PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 PMID:28492532 |
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NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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LOXHD1 |
lipoxygenase homology domains 1 |
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ISO |
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OMIM |
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NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858
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TPRN |
taperin |
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ISO |
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OMIM |
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TMPRSS3 |
transmembrane serine protease 3 |
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ISO |
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OMIM |
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NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520
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PTPRQ |
protein tyrosine phosphatase receptor type Q |
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ISO IEA |
Deafness, unilateral and vestibular dysfunction |
OMIM OMIA |
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NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762
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OTOGL |
otogelin like |
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ISO |
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OMIM |
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NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956
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G |
CCNF |
cyclin F |
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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 |
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NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435
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TBC1D24 |
TBC1 domain family member 24 |
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ISO |
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OMIM |
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NCBI chr 6:38,531,547...38,557,472
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ELMOD3 |
ELMO domain containing 3 |
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ISO |
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OMIM |
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NCBI chr17:39,642,101...39,668,079
Ensembl chr17:39,643,676...39,665,726
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KARS1 |
lysyl-tRNA synthetase 1 |
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ISO |
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OMIM |
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NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197
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IGSF6 |
immunoglobulin superfamily member 6 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:25741868 |
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NCBI chr 6:23,185,442...23,195,432
Ensembl chr 6:23,185,461...23,194,787
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METTL9 |
methyltransferase like 9 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:25741868 |
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NCBI chr 6:23,182,800...23,230,288
Ensembl chr 6:23,183,103...23,230,262
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G |
OTOA |
otoancorin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:25741868 |
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NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380
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OTOF |
otoferlin |
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ISO |
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OMIM |
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NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750
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RAI1 |
retinoic acid induced 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:25741868 PMID:27082237 |
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NCBI chr 5:41,687,436...41,797,354
Ensembl chr 5:41,688,479...41,808,918
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G |
TMC1 |
transmembrane channel like 1 |
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ISO |
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 |
ClinVar |
PMID:18381613 PMID:18616530 PMID:19187973 PMID:21917145 PMID:24033266 |
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NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
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SERPINB6 |
serpin family B member 6 |
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ISO |
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OMIM |
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NCBI chr35:3,234,694...3,245,726
Ensembl chr35:3,234,697...3,262,829
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CABP2 |
calcium binding protein 2 |
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ISO |
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OMIM |
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NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268
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NARS2 |
asparaginyl-tRNA synthetase 2, mitochondrial |
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ISO |
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OMIM |
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NCBI chr21:20,277,707...20,413,624
Ensembl chr21:20,277,507...20,606,736
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MET |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
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OMIM |
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NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
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TSPEAR |
thrombospondin type laminin G domain and EAR repeats |
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ISO |
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OMIM |
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NCBI chr31:38,273,306...38,340,525
Ensembl chr31:38,272,592...38,337,373
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TMEM132E |
transmembrane protein 132E |
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ISO |
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OMIM |
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NCBI chr 9:38,671,687...38,688,875
Ensembl chr 9:38,671,711...38,682,209
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SLC9A1 |
solute carrier family 9 member A1 |
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ISO |
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OMIM |
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NCBI chr 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364
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G |
MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
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G |
MAF |
MAF bZIP transcription factor |
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ISO |
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OMIM |
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NCBI chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735
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GJB2 |
gap junction protein beta 2 |
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ISO |
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OMIM |
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NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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G |
BSND |
barttin CLCNK type accessory subunit beta |
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ISO |
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OMIM |
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NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110
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CLCNKA |
chloride voltage-gated channel Ka |
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ISO |
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OMIM |
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NCBI chr 2:81,612,382...81,627,742
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G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
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ISO |
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OMIM |
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NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593
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G |
MYO3A |
myosin IIIA |
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ISO |
DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X |
RGD |
PMID:12032315 |
RGD:1600555 |
NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043
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G |
NEFH |
neurofilament heavy |
disease_progression |
ISO |
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RGD |
PMID:27457532 |
RGD:27372873 |
NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
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G |
SLC26A4 |
solute carrier family 26 member 4 |
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ISO |
associated with Enlarged Vestibular Aqueduct;DNA:missense mutation:cds:p.V138L (human) |
RGD |
PMID:19645628 |
RGD:7411669 |
NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212
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G |
BCS1L |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO |
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OMIM |
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NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516
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G |
SLC52A2 |
solute carrier family 52 member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621
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G |
SLC52A3 |
solute carrier family 52 member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003
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G |
SLC52A2 |
solute carrier family 52 member 2 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621
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G |
SLC52A3 |
solute carrier family 52 member 3 |
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ISO |
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OMIM |
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NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003
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G |
ADCK5 |
aarF domain containing kinase 5 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,800,562...37,817,449
Ensembl chr13:37,799,956...37,818,256
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G |
BOP1 |
BOP1 ribosomal biogenesis factor |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,698,635...37,723,803
Ensembl chr13:37,698,698...37,724,457
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G |
CPSF1 |
cleavage and polyadenylation specific factor 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,817,440...37,827,868
Ensembl chr13:37,817,442...37,825,212
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G |
CYC1 |
cytochrome c1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,590,919...37,593,239
Ensembl chr13:37,590,912...37,593,156
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G |
CYHR1 |
cysteine and histidine rich 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,860,452...37,871,982
Ensembl chr13:37,858,424...37,874,624
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G |
DGAT1 |
diacylglycerol O-acyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,745,395...37,761,337
Ensembl chr13:37,741,706...37,756,916
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G |
EXOSC4 |
exosome component 4 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,574,359...37,576,331
Ensembl chr13:37,574,527...37,577,380
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G |
FBXL6 |
F-box and leucine rich repeat protein 6 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,780,991...37,783,976
Ensembl chr13:37,780,974...37,785,045
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G |
FOXH1 |
forkhead box H1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319
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G |
GPAA1 |
glycosylphosphatidylinositol anchor attachment 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:37,577,162...37,580,346
Ensembl chr13:37,576,354...37,580,345
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G |
GRINA |
glutamate ionotropic receptor NMDA type subunit associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:37,512,129...37,514,303
Ensembl chr13:37,512,217...37,514,257
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G |
HGH1 |
HGH1 homolog |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:37,621,587...37,624,523
Ensembl chr13:37,621,605...37,623,973
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G |
HSF1 |
heat shock transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:37,724,741...37,745,259
Ensembl chr13:37,724,759...37,745,252
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G |
KIFC2 |
kinesin family member C2 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:37,875,611...37,883,166
Ensembl chr13:37,875,998...37,882,974
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G |
MAF1 |
MAF1 homolog, negative regulator of RNA polymerase III |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:37,598,819...37,601,713
Ensembl chr13:37,598,600...37,601,591
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G |
MROH1 |
maestro heat like repeat family member 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,645,810...37,698,550
Ensembl chr13:37,645,876...37,698,342
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G |
OPLAH |
5-oxoprolinase, ATP-hydrolysing |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,555,035...37,564,241
Ensembl chr13:37,555,045...37,564,810
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G |
PLEC |
plectin |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
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G |
SCRT1 |
scratch family transcriptional repressor 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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G |
SCX |
scleraxis bHLH transcription factor |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,701,781...37,704,949
Ensembl chr13:37,703,232...37,704,657
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G |
SHARPIN |
SHANK associated RH domain interactor |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,594,155...37,598,510
Ensembl chr13:37,594,203...37,599,456
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G |
SLC39A4 |
solute carrier family 39 member 4 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,833,073...37,838,304
Ensembl chr13:37,833,156...37,838,522
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G |
SLC52A2 |
solute carrier family 52 member 2 |
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ISO |
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OMIM |
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NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621
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G |
SPATC1 |
spermatogenesis and centriole associated 1 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,530,211...37,550,797
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G |
TMEM249 |
transmembrane protein 249 |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,778,698...37,780,774
Ensembl chr13:37,778,730...37,780,385
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G |
TONSL |
tonsoku like, DNA repair protein |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,846,010...37,857,633
Ensembl chr13:37,846,149...37,857,668
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G |
VPS28 |
VPS28 subunit of ESCRT-I |
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ISO |
ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr13:37,841,524...37,845,954
Ensembl chr13:37,841,518...37,846,339
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G |
ADNP2 |
ADNP homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr 1:600,804...635,013
Ensembl chr 1:602,264...635,348
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G |
ATP9B |
ATPase phospholipid transporting 9B (putative) |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr 1:1,136,862...1,374,102
Ensembl chr 1:1,136,865...1,374,514
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G |
CTDP1 |
CTD phosphatase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr 1:886,973...945,994
Ensembl chr 1:762,020...946,142
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G |
HSBP1L1 |
heat shock factor binding protein 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr 1:743,321...747,401
Ensembl chr 1:744,458...747,200
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G |
KCNG2 |
potassium voltage-gated channel modifier subfamily G member 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr 1:805,892...866,031
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G |
MBP |
myelin basic protein |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860
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G |
NFATC1 |
nuclear factor of activated T cells 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr 1:1,027,021...1,121,362
Ensembl chr 1:1,028,695...1,121,588
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G |
PARD6G |
par-6 family cell polarity regulator gamma |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr 1:478,310...567,728
Ensembl chr 1:497,071...565,905
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G |
RBFA |
ribosome binding factor A |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr 1:692,870...722,681
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G |
SALL3 |
spalt like transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr 1:1,413,991...1,421,516
Ensembl chr 1:1,416,390...1,435,326
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G |
SLC66A2 |
solute carrier family 66 member 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr 1:758,456...801,227
Ensembl chr 1:757,856...802,373
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G |
TXNL4A |
thioredoxin like 4A |
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ISO |
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OMIM |
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NCBI chr 1:722,223...735,253
Ensembl chr 1:722,293...735,258
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G |
ZNF236 |
zinc finger protein 236 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr 1:2,959,113...3,062,349
Ensembl chr 1:2,961,498...3,061,984
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G |
ZNF516 |
zinc finger protein 516 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr 1:3,275,255...3,400,761
Ensembl chr 1:3,274,993...3,492,201
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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ISO |
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OMIM |
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NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
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G |
ATP1A3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
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OMIM |
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NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
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G |
IARS2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
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ISO |
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OMIM |
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NCBI chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635
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G |
GJB1 |
gap junction protein beta 1 |
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ISO |
ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers |
ClinVar |
PMID:15241803 PMID:25741868 PMID:28492532 |
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NCBI chr X:55,565,995...55,575,332
Ensembl chr X:55,573,808...55,574,659
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G |
PMP22 |
peripheral myelin protein 22 |
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ISO |
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OMIM |
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NCBI chr 5:38,806,731...38,839,002
Ensembl chr 5:38,807,826...38,838,971
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G |
MPZ |
myelin protein zero |
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ISO |
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OMIM |
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NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451
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G |
AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
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ISO |
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OMIM |
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NCBI chr X:101,275,027...101,307,551
Ensembl chr X:101,275,017...101,307,367
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G |
RAB33A |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA ClinVar Annotator: match by term: Cowchock syndrome |
ClinVar |
PMID:3856385 PMID:20362274 PMID:20818383 PMID:22019070 PMID:23217327 PMID:23806086 PMID:24088041 PMID:25583628 PMID:25590979 PMID:25741868 PMID:25934856 PMID:25986071 PMID:26173962 PMID:26257172 PMID:27102849 PMID:28492532 PMID:28842795 PMID:28967629 PMID:31523922 |
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NCBI chr X:101,311,752...101,322,825
Ensembl chr X:101,312,611...101,322,689
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G |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
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OMIM |
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NCBI chr X:81,150,537...81,171,521
Ensembl chr X:81,150,536...81,212,689
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G |
PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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ISO |
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OMIM |
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NCBI chr 5:39,601,288...39,687,125
Ensembl chr 5:39,601,291...39,686,908
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G |
CLCC1 |
chloride channel CLIC like 1 |
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ISO |
ClinVar Annotator: match by term: Chudley-McCullough syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:42,807,432...42,829,317
Ensembl chr 6:42,807,064...42,829,273
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G |
GPSM2 |
G protein signaling modulator 2 |
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ISO |
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OMIM |
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NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690
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G |
MITF |
melanocyte inducing transcription factor |
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ISO |
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OMIM |
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NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578
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G |
DNAJC3 |
DnaJ heat shock protein family (Hsp40) member C3 |
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ISO |
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OMIM |
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NCBI chr22:46,323,263...46,402,240
Ensembl chr22:46,307,905...46,398,625
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G |
DNAJC6 |
DnaJ heat shock protein family (Hsp40) member C6 |
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ISO |
ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus |
ClinVar |
PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 |
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NCBI chr 5:44,882,111...45,021,152
Ensembl chr 5:44,884,283...45,120,203
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G |
LHX3 |
LIM homeobox 3 |
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ISO |
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OMIM |
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NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118
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G |
COL11A2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Conductive hearing loss |
ClinVar |
PMID:24033266 |
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NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
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G |
EYA1 |
EYA transcriptional coactivator and phosphatase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10471511 |
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NCBI chr29:20,176,306...20,595,131
Ensembl chr29:20,177,014...20,525,653
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G |
NOG |
noggin |
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ISO |
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RGD |
PMID:18096605 |
RGD:12801451 |
NCBI chr 9:31,453,604...31,456,060
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G |
CEP78 |
centrosomal protein 78 |
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ISO |
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OMIM |
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NCBI chr 1:80,437,902...80,469,383
Ensembl chr 1:80,438,695...80,469,350
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G |
CEP250 |
centrosomal protein 250 |
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ISO |
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OMIM |
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NCBI chr24:24,411,882...24,461,916
Ensembl chr24:24,418,859...24,461,640
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G |
SLC33A1 |
solute carrier family 33 member 1 |
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ISO |
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OMIM |
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NCBI chr23:49,522,325...49,548,004
Ensembl chr23:49,523,852...49,547,904
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G |
FGF3 |
fibroblast growth factor 3 |
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ISO |
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OMIM |
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NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009
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G |
SPTBN4 |
spectrin beta, non-erythrocytic 4 |
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ISO |
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OMIM |
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NCBI chr 1:113,167,251...113,243,071
Ensembl chr 1:113,168,484...113,240,934
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G |
SLC4A11 |
solute carrier family 4 member 11 |
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ISO |
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OMIM |
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NCBI chr24:18,057,437...18,068,420
Ensembl chr24:18,057,517...18,068,425
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G |
PAX3 |
paired box 3 |
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ISO |
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OMIM |
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NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561
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G |
VPS13B |
vacuolar protein sorting 13 homolog B |
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ISO |
ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness |
ClinVar |
PMID:15141358 PMID:16648375 PMID:17990063 PMID:18414213 PMID:19006247 PMID:20683995 PMID:20921020 PMID:23352163 PMID:23757202 PMID:24033266 PMID:25502226 PMID:25741868 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:27175599 PMID:27353947 PMID:27829003 PMID:28041643 PMID:28492532 |
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NCBI chr13:1,101,226...1,834,933
Ensembl chr13:1,101,610...1,871,225
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G |
HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
severity |
ISO |
DNA:mutations:multiple (human) |
OMIM RGD |
PMID:16385454 |
RGD:10411884 |
NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594
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G |
AK2 |
adenylate kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19043416 |
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NCBI chr 2:68,342,769...68,371,769
Ensembl chr 2:68,350,057...68,371,090
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G |
AQP4 |
aquaporin 4 |
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ISO |
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RGD |
PMID:11406631 |
RGD:734598 |
NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
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G |
BDNF |
brain derived neurotrophic factor |
treatment |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:18607918 PMID:19365690 PMID:21452221 PMID:23150788 |
RGD:8639313 RGD:8655576 |
NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
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G |
BDP1 |
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB |
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ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
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NCBI chr 2:54,654,406...54,743,443
Ensembl chr 2:54,654,481...54,740,787
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G |
CACNA1D |
calcium voltage-gated channel subunit alpha1 D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:10929716 PMID:15357422 |
RGD:1300292 |
NCBI chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686
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G |
CDC14A |
cell division cycle 14A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29293958 |
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NCBI chr 6:49,429,675...49,678,376
Ensembl chr 6:49,497,939...49,693,665
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G |
CDH23 |
cadherin related 23 |
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ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
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NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
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G |
CLDN14 |
claudin 14 |
susceptibility |
ISO |
DNA:deletion, missense mutation: :398delT, p.V85D CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:11163249 |
RGD:1600866 |
NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446
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G |
COCH |
cochlin |
susceptibility |
ISO |
deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations |
RGD |
PMID:9806553 |
RGD:1600878 |
NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550
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G |
CRYM |
crystallin mu |
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ISO |
DNA:missense mutation:cds:p.K314T (human) |
RGD |
PMID:12471561 |
RGD:734836 |
NCBI chr 6:24,187,073...24,204,304
Ensembl chr 6:24,187,121...24,204,304
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G |
EPS8 |
epidermal growth factor receptor pathway substrate 8 |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:24033266 |
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NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770
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G |
ESPN |
espin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10975527 PMID:15286153 PMID:15930085 |
RGD:734943 |
NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676
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G |
ESR2 |
estrogen receptor 2 |
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ISO |
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RGD |
PMID:19293293 |
RGD:8553051 |
NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
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G |
GJB1 |
gap junction protein beta 1 |
treatment |
ISO |
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RGD |
PMID:21813206 |
RGD:7364894 |
NCBI chr X:55,565,995...55,575,332
Ensembl chr X:55,573,808...55,574,659
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G |
GJB2 |
gap junction protein beta 2 |
|
ISO | |