Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

Term:Sensation Disorders
go back to main search page
Accession:DOID:9003045 term browser browse the term
Definition:Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM).
Synonyms:exact_synonym: Sensation Disorder;   Sensory Disorder;   Sensory Disorders;   Special Senses Disorder;   Special Senses Disorders
 primary_id: MESH:D012678;   RDO:0001889
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Sensation Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDYN prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19200067 NCBI chr24:19,043,955...19,057,413
Ensembl chr24:19,053,870...19,056,364
JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERAC1 serine active site containing 1 ISO OMIM NCBI chr 1:47,599,802...47,651,034
Ensembl chr 1:47,578,472...47,669,494
JBrowse link
achromatopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:28492532 PMID:29525873 More... NCBI chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 PMID:16961972 More... NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967 PMID:1572225 PMID:10888875 PMID:10958649 PMID:11124331 More... NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
JBrowse link
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 More... NCBI chr28:7,839,604...7,887,827
Ensembl chr28:7,839,847...7,887,776
JBrowse link
Achromatopsia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human) RGD PMID:18521937 RGD:9068452 NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 treatment ISO DNA:deletion: :c.1148delC (human) RGD PMID:17265047 PMID:21576125 RGD:9068446 RGD:9068450 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
achromatopsia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO
IAGP
Achromatopsia-2, CNGA3-related OMIM
OMIA
PMID:26407004 NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
achromatopsia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO
IAGP
Achromatopsia-3, CNGB3-related OMIM
OMIA
PMID:5298491 PMID:12140185 PMID:16879359 PMID:20061167 PMID:20378608 More... NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
achromatopsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAT2 G protein subunit alpha transducin 2 ISO OMIM NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:19615668 PMID:19887631 PMID:21127010 PMID:25741868 PMID:28492532 More... NCBI chr28:7,839,604...7,887,827
Ensembl chr28:7,839,847...7,887,776
JBrowse link
achromatopsia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 ISO OMIM NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
JBrowse link
Amaurosis Fugax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:15073384 RGD:1582361 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chr 1:107,486,399...107,490,151
Ensembl chr 1:107,486,438...107,489,222
JBrowse link
amblyopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPARGC1A PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868 NCBI chr35:10,157,043...10,180,484
Ensembl chr35:10,157,882...10,180,270
JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20803644 More... NCBI chr 9:5,009,468...5,016,513
Ensembl chr 9:5,009,468...5,016,483
JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Aminoglycoside-induced deafness ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase ISO OMIM NCBI chr10:19,841,813...19,859,514
Ensembl chr10:19,841,854...19,859,470
JBrowse link
Anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chr10:26,694,895...26,707,451
Ensembl chr10:26,691,256...26,707,507
JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:8723126 PMID:28067909 NCBI chr 7:69,359,286...69,505,067
Ensembl chr 7:69,358,447...69,621,067
JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chr10:26,680,441...26,690,530
Ensembl chr10:26,681,122...26,689,882
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 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
JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO OMIM NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689
JBrowse link
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA1 homeobox A1 ISO OMIM NCBI chr14:40,267,033...40,272,212
Ensembl chr14:40,267,528...40,269,681
JBrowse link
G HOXA2 homeobox A2 ISO ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome ClinVar NCBI chr14:40,273,992...40,276,975
Ensembl chr14:40,274,469...40,276,239
JBrowse link
Auditory Neuropathy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDXR ferredoxin reductase ISO OMIM NCBI chr 9:5,567,411...5,577,427
Ensembl chr 9:5,567,328...5,577,277
JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIAPH3 diaphanous related formin 3 ISO OMIM NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031
JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMT1 DNA methyltransferase 1 ISO OMIM NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO OMIM NCBI chr25:36,833,246...36,858,846
Ensembl chr25:36,834,196...36,858,819
JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein ISO OMIM NCBI chr32:11,017,440...11,022,780 JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:23967202 PMID:24033266 More... NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901
JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr26:7,125,320...7,144,884
Ensembl chr26:7,125,405...7,144,308
JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chr 7:66,489,124...66,758,207
Ensembl chr 7:66,503,999...66,639,013
JBrowse link
G PDE1C phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chr14:44,250,612...44,543,818
Ensembl chr14:44,145,534...44,644,937
JBrowse link
G PLS1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment
ClinVar PMID:30872814 PMID:31397523 NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202
JBrowse link
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKHD1 ankyrin repeat and KH domain containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,618,287...35,742,050
Ensembl chr 2:35,618,282...35,744,734
JBrowse link
G APBB3 amyloid beta precursor protein binding family B member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,753,212...35,759,152
Ensembl chr 2:35,753,241...35,759,012
JBrowse link
G BRD8 bromodomain containing 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:25,793,375...25,825,868
Ensembl chr11:25,793,668...25,825,726
JBrowse link
G CD14 CD14 molecule ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,790,505...35,792,967 JBrowse link
G CDC23 cell division cycle 23 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:25,834,752...25,851,588
Ensembl chr11:25,834,737...25,852,341
JBrowse link
G CDC25C cell division cycle 25C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744
JBrowse link
G CTNNA1 catenin alpha 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
JBrowse link
G CXXC5 CXXC finger protein 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:34,903,680...34,939,580
Ensembl chr 2:34,935,858...35,082,085
JBrowse link
G CYSTM1 cysteine rich transmembrane module containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,391,089...35,434,063
Ensembl chr 2:35,391,154...35,453,194
JBrowse link
G DIAPH1 diaphanous related formin 1 ISO OMIM NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320
JBrowse link
G DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:34,730,877...34,762,234
Ensembl chr 2:34,733,250...34,762,276
JBrowse link
G DND1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,825,154...35,827,913
Ensembl chr 2:35,825,636...35,827,840
JBrowse link
G ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:34,763,814...34,773,491 JBrowse link
G EGR1 early growth response 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575
JBrowse link
G EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,742,811...35,744,749
Ensembl chr 2:35,618,282...35,744,734
JBrowse link
G ETF1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:26,078,611...26,110,805
Ensembl chr11:26,080,478...26,110,894
JBrowse link
G FAM13B family with sequence similarity 13 member B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:25,626,334...25,712,897
Ensembl chr11:25,628,536...25,708,365
JBrowse link
G GFRA3 GDNF family receptor alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:25,881,523...25,897,863
Ensembl chr11:25,882,099...25,897,817
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760
JBrowse link
G HBEGF heparin binding EGF like growth factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,551,248...35,563,310
Ensembl chr 2:35,551,250...35,563,043
JBrowse link
G HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:25,464,601...25,467,460
Ensembl chr11:25,466,185...25,467,117
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434
JBrowse link
G IK IK cytokine ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,805,631...35,818,205
Ensembl chr 2:35,805,689...35,818,050
JBrowse link
G KDM3B lysine demethylase 3B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:25,954,352...26,024,919
Ensembl chr11:25,943,864...26,023,866
JBrowse link
G KIF20A kinesin family member 20A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:25,826,140...25,834,220
Ensembl chr11:25,825,747...25,833,985
JBrowse link
G KLHL3 kelch like family member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:25,329,922...25,505,281
Ensembl chr11:25,334,241...25,443,494
JBrowse link
G LOC100685940 protocadherin gamma-A6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:36,350,982...36,355,644 JBrowse link
G LOC100855970 protocadherin beta-4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:36,178,858...36,184,360 JBrowse link
G LOC106557817 protocadherin beta-2-like ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:36,157,839...36,161,560 JBrowse link
G LOC111089960 protocadherin alpha-7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,954,126...36,096,661
Ensembl chr 2:35,910,402...36,095,110
JBrowse link
G LOC478037 protocadherin alpha-6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,943,781...36,062,929 JBrowse link
G LOC478038 protocadherin gamma-C5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:36,297,841...36,481,900
Ensembl chr 2:36,316,678...36,480,278
JBrowse link
G LOC487172 protocadherin beta-5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:36,182,150...36,197,654 JBrowse link
G LOC487173 protocadherin beta-6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:36,207,400...36,211,372
Ensembl chr 2:36,208,071...36,210,518
JBrowse link
G LOC487174 protocadherin beta-7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:36,221,120...36,224,409
Ensembl chr 2:36,221,689...36,224,082
JBrowse link
G LOC487175 protocadherin beta-14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:36,226,490...36,232,201
Ensembl chr 2:36,229,411...36,231,807
JBrowse link
G LOC487178 protocadherin beta-15 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:36,251,313...36,271,637 JBrowse link
G LOC607624 protocadherin gamma-A9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:36,383,739...36,389,108 JBrowse link
G LRRTM2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:26,392,642...26,397,018
Ensembl chr11:26,392,734...26,396,223
JBrowse link
G MATR3 matrin 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:26,736,728...26,790,449
Ensembl chr11:26,758,261...26,790,449
JBrowse link
G MYOT myotilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:25,574,087...25,592,767
Ensembl chr11:25,564,136...25,592,339
JBrowse link
G MZB1 marginal zone B and B1 cell specific protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:34,710,487...34,712,660
Ensembl chr 2:34,706,007...34,712,626
JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,803,452...35,805,530
Ensembl chr 2:35,803,453...35,805,531
JBrowse link
G NME5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:25,772,162...25,792,856
Ensembl chr11:25,772,157...25,792,176
JBrowse link
G NRG2 neuregulin 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,085,192...35,264,509
Ensembl chr 2:35,085,361...35,264,378
JBrowse link
G PAIP2 poly(A) binding protein interacting protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:34,671,130...34,695,974
Ensembl chr 2:34,671,150...34,695,299
JBrowse link
G PCDHA1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G PCDHA10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G PCDHA11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G PCDHA12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G PCDHA3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G PCDHA4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G PCDHA6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G PCDHA7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G PCDHAC1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:36,013,249...36,017,667 JBrowse link
G PCDHB1 protocadherin beta 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:36,136,076...36,140,177
Ensembl chr 2:36,136,681...36,139,137
JBrowse link
G PFDN1 prefoldin subunit 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,454,139...35,519,818
Ensembl chr 2:35,454,404...35,519,725
JBrowse link
G PKD2L2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:25,594,327...25,628,262
Ensembl chr11:25,594,394...25,628,509
JBrowse link
G PROB1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:34,713,286...34,719,568
Ensembl chr 2:34,714,399...34,717,786
JBrowse link
G PSD2 pleckstrin and Sec7 domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:34,940,295...35,080,623
Ensembl chr 2:34,935,858...35,082,085
JBrowse link
G PURA purine rich element binding protein A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,325,630...35,345,366
Ensembl chr 2:35,330,902...35,332,835
JBrowse link
G REEP2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:26,026,715...26,032,489
Ensembl chr11:26,026,828...26,032,505
JBrowse link
G SIL1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:26,470,439...26,689,198
Ensembl chr11:26,470,487...26,731,294
JBrowse link
G SLC23A1 solute carrier family 23 member 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:34,694,064...34,708,498
Ensembl chr 2:34,698,838...34,708,412
JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:36,286,080...36,287,619
Ensembl chr 2:36,286,584...36,287,489
JBrowse link
G SLC35A4 solute carrier family 35 member A4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,761,589...35,763,511
Ensembl chr 2:35,761,626...35,762,600
JBrowse link
G SLC4A9 solute carrier family 4 member 9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,575,316...35,589,878
Ensembl chr 2:35,576,550...35,587,980
JBrowse link
G SPATA24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:34,719,710...34,724,880
Ensembl chr 2:34,719,713...34,724,843
JBrowse link
G SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:24,733,290...25,013,400
Ensembl chr11:24,733,603...25,007,376
JBrowse link
G SRA1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,745,518...35,752,497
Ensembl chr 2:35,745,877...35,752,502
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072
JBrowse link
G TAF7 TATA-box binding protein associated factor 7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:36,295,387...36,297,681
Ensembl chr 2:36,295,911...36,296,960
JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,797,298...35,803,491
Ensembl chr 2:35,797,464...35,803,199
JBrowse link
G UBE2D2 ubiquitin conjugating enzyme E2 D2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:34,827,994...34,884,047
Ensembl chr 2:34,827,888...34,897,412
JBrowse link
G WDR55 WD repeat domain 55 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,820,082...35,825,311
Ensembl chr 2:35,820,116...35,825,094
JBrowse link
G WNT8A Wnt family member 8A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr11:25,707,058...25,752,724
Ensembl chr11:25,744,780...25,749,748
JBrowse link
G ZMAT2 zinc finger matrin-type 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:35,851,972...35,860,818
Ensembl chr 2:35,852,109...35,858,065
JBrowse link
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO OMIM NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201
JBrowse link
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA ISO OMIM NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TECTA tectorin alpha ISO OMIM NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147
JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO OMIM NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POU4F3 POU class 4 homeobox 3 ISO OMIM NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161
JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRC stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH9 myosin heavy chain 9 ISO OMIM NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
JBrowse link
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG1 actin gamma 1 ISO OMIM NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328
JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO OMIM NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724
JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIX1 SIX homeobox 1 ISO OMIM NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534
JBrowse link
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC17A8 solute carrier family 17 member 8 ISO OMIM NCBI chr15:39,443,790...39,489,988
Ensembl chr15:39,443,518...39,486,595
JBrowse link
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REST RE1 silencing transcription factor ISO OMIM NCBI chr13:49,041,082...49,062,596
Ensembl chr13:49,041,047...49,059,388
JBrowse link
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRHL2 grainyhead like transcription factor 2 ISO OMIM NCBI chr13:3,204,898...3,362,533
Ensembl chr13:3,204,925...3,362,096
JBrowse link
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 ISO OMIM NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093
JBrowse link
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO OMIM NCBI chr15:7,175,010...7,177,145 JBrowse link
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 ISO OMIM NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
JBrowse link
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC1 transmembrane channel like 1 ISO OMIM NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain ISO OMIM NCBI chr 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012
JBrowse link
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB6 gap junction protein beta 6 ISO OMIM NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
JBrowse link
autosomal dominant nonsyndromic deafness 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYM crystallin mu ISO OMIM NCBI chr 6:24,187,073...24,204,304
Ensembl chr 6:24,187,121...24,204,304
JBrowse link
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2RX2 purinergic receptor P2X 2 ISO OMIM NCBI chr26:480,370...485,527
Ensembl chr26:482,425...485,502
JBrowse link
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC50 coiled-coil domain containing 50 ISO OMIM NCBI chr34:23,168,594...23,243,221
Ensembl chr34:23,168,525...23,258,497
JBrowse link
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO1A myosin IA ISO OMIM NCBI chr10:1,159,816...1,194,452
Ensembl chr10:1,159,812...1,193,153
JBrowse link
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH14 myosin heavy chain 14 ISO OMIM NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901
JBrowse link
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO OMIM NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334
JBrowse link
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSDME gasdermin E ISO OMIM NCBI chr14:38,210,975...38,286,729
Ensembl chr14:38,211,540...38,292,280
JBrowse link
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR96 microRNA mir-96 ISO OMIM NCBI chr14:7,068,754...7,068,842
Ensembl chr14:7,068,754...7,068,842
JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TJP2 tight junction protein 2 ISO OMIM NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654
JBrowse link
autosomal dominant nonsyndromic deafness 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POU4F3 POU class 4 homeobox 3 ISO OMIM NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161
JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAPPA pappalysin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr11:69,979,295...70,220,256
Ensembl chr11:69,982,268...70,219,550
JBrowse link
G TNC tenascin C ISO OMIM NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIABLO diablo IAP-binding mitochondrial protein ISO OMIM NCBI chr26:7,125,320...7,144,884
Ensembl chr26:7,125,405...7,144,308
JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBC1D24 TBC1 domain family member 24 ISO OMIM NCBI chr 6:38,531,547...38,557,472 JBrowse link
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD164 CD164 molecule ISO OMIM NCBI chr12:66,295,444...66,309,691
Ensembl chr12:66,297,248...66,310,186
JBrowse link
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3H15orf40 chromosome 3 C15orf40 homolog ISO OMIM NCBI chr 3:54,788,092...54,793,197
Ensembl chr 3:54,657,075...54,794,206
JBrowse link
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KITLG KIT ligand ISO OMIM NCBI chr15:29,591,068...29,671,985
Ensembl chr15:29,591,170...29,671,974
JBrowse link
autosomal dominant nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1A LIM homeobox transcription factor 1 alpha ISO OMIM NCBI chr38:17,958,366...18,111,155
Ensembl chr38:17,956,961...18,109,049
JBrowse link
autosomal dominant nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCM2 minichromosome maintenance complex component 2 ISO OMIM NCBI chr20:1,682,928...1,702,689
Ensembl chr20:1,682,886...1,702,366
JBrowse link
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMXL2 Dmx like 2 ISO OMIM NCBI chr30:17,156,077...17,308,641
Ensembl chr30:17,156,791...17,308,803
JBrowse link
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC44A4 solute carrier family 44 member 4 ISO OMIM NCBI chr12:1,328,276...1,340,752
Ensembl chr12:1,328,399...1,340,778
JBrowse link
autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRQ protein tyrosine phosphatase receptor type Q ISO OMIM NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762
JBrowse link
autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE1C phosphodiesterase 1C ISO OMIM NCBI chr14:44,250,612...44,543,818
Ensembl chr14:44,145,534...44,644,937
JBrowse link
autosomal dominant nonsyndromic deafness 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRRAP transformation/transcription domain associated protein ISO OMIM NCBI chr 6:10,519,734...10,635,175
Ensembl chr 6:10,519,711...10,632,776
JBrowse link
autosomal dominant nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLS1 plastin 1 ISO OMIM NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202
JBrowse link
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 ISO OMIM NCBI chr 6:27,855,702...27,950,140
Ensembl chr 6:27,855,702...27,989,331
JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC12A2 solute carrier family 12 member 2 ISO OMIM NCBI chr11:17,143,943...17,256,248
Ensembl chr11:17,143,943...17,253,695
JBrowse link
autosomal dominant nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCD5 stearoyl-CoA desaturase 5 ISO OMIM NCBI chr32:6,594,607...6,745,379
Ensembl chr32:6,595,424...6,745,308
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GREB1L GREB1 like retinoic acid receptor coactivator ISO OMIM NCBI chr 7:66,489,124...66,758,207
Ensembl chr 7:66,503,999...66,639,013
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELMOD3 ELMO domain containing 3 ISO OMIM NCBI chr17:39,642,101...39,668,079
Ensembl chr17:39,643,676...39,665,726
JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COCH cochlin ISO OMIM NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110
JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:28492532 More... NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:22981119 PMID:25741868 PMID:26445815 PMID:28492532 PMID:30303587 NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268
JBrowse link
G CDH23 cadherin related 23 ISO DNA:missense mutations:multiple
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
RGD
ClinVar
PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:15353998 More... RGD:8662281 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:23023331 PMID:30303587
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:30303587 NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446
JBrowse link
G CLIC5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr12:14,160,524...14,318,174
Ensembl chr12:14,144,390...14,318,582
JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587
JBrowse link
G EPS8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770
JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676
JBrowse link
G ESRRB estrogen related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:23967202 PMID:24033266 PMID:30303587 NCBI chr 8:49,253,877...49,424,148
Ensembl chr 8:49,253,332...49,421,332
JBrowse link
G GIPC3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr20:55,833,876...55,837,621 JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 PMID:9139825 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr15:7,175,010...7,177,145 JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690
JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20137778 PMID:30303587 NCBI chr13:39,766,910...39,882,076
Ensembl chr13:39,766,919...39,882,086
JBrowse link
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 2:40,310,285...40,330,200
Ensembl chr 2:40,315,807...40,328,240
JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:15641023 PMID:21255762 PMID:30303587 NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949
JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:16459341 PMID:30303587 NCBI chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413
JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858
JBrowse link
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 2:54,438,046...54,458,890
Ensembl chr 2:54,441,797...54,457,515
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19650862 PMID:21185009 PMID:30303587 NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043
JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:23173898 PMID:24033266 PMID:30303587 NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380
JBrowse link
G OTOF otoferlin ISO DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
RGD
ClinVar
PMID:14635104 PMID:17967520 PMID:19250381 PMID:24033266 PMID:27082237 More... RGD:9479154 NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750
JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:30303587 PMID:32747562 NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249
JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161
JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762
JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212
JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147
JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:11850618 PMID:16134132 PMID:17877751 PMID:18414213 PMID:19187973 More... NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
JBrowse link
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262
JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:11137999 PMID:24033266 PMID:30303587 PMID:30311386 NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520
JBrowse link
G TPRN taperin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20170899 PMID:30303587
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083
JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:30303587 NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:28492532 More... NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977
JBrowse link
autosomal recessive nonsyndromic deafness 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISO OMIM NCBI chr 3:8,013,879...8,083,177
Ensembl chr 3:8,002,012...8,087,684
JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO OMIM NCBI chr 2:40,310,285...40,330,200
Ensembl chr 2:40,315,807...40,328,240
JBrowse link
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPS8 epidermal growth factor receptor pathway substrate 8 ISO OMIM NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770
JBrowse link
autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLIC5 chloride intracellular channel 5 ISO OMIM NCBI chr12:14,160,524...14,318,174
Ensembl chr12:14,144,390...14,318,582
JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPOR2 RHO family interacting cell polarization regulator 2 ISO OMIM NCBI chr35:22,823,053...23,041,765
Ensembl chr35:22,824,106...23,041,743
JBrowse link
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPS8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 ClinVar PMID:28492532 NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770
JBrowse link
G EPS8L2 EPS8 like 2 ISO OMIM NCBI chr18:25,741,166...25,755,310
Ensembl chr18:25,733,090...25,755,658
JBrowse link
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WBP2 WW domain binding protein 2 ISO OMIM NCBI chr 9:4,743,476...4,752,301
Ensembl chr 9:4,743,539...4,752,270
JBrowse link
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROR1 receptor tyrosine kinase like orphan receptor 1 ISO OMIM NCBI chr 5:46,010,097...46,477,882
Ensembl chr 5:46,013,195...46,190,880
JBrowse link
autosomal recessive nonsyndromic deafness 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESRP1 epithelial splicing regulatory protein 1 ISO OMIM NCBI chr29:39,322,516...39,388,363
Ensembl chr29:39,333,117...39,387,337
JBrowse link
autosomal recessive nonsyndromic deafness 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COCH cochlin ISO OMIM NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550
JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZL2 myelin protein zero like 2 ISO OMIM NCBI chr 5:15,446,803...15,458,667
Ensembl chr 5:15,447,104...15,458,515
JBrowse link
autosomal recessive nonsyndromic deafness 112 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO OMIM NCBI chr 2:54,654,406...54,743,443
Ensembl chr 2:54,654,481...54,740,787
JBrowse link
autosomal recessive nonsyndromic deafness 113 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO OMIM NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334
JBrowse link
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC489534 GRB2 related adaptor protein ISO OMIM NCBI chr 5:41,014,193...41,038,965 JBrowse link
autosomal recessive nonsyndromic deafness 115 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPNS2 sphingolipid transporter 2 ISO OMIM NCBI chr 5:30,494,355...30,527,669 JBrowse link
autosomal recessive nonsyndromic deafness 116 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN9 claudin 9 ISO OMIM NCBI chr 6:38,172,035...38,174,089
Ensembl chr 6:38,172,550...38,173,203
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLRN2 clarin 2 ISO OMIM NCBI chr 3:62,958,242...62,967,878
Ensembl chr 3:62,959,224...62,967,994
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 119 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPATA5L1 spermatogenesis associated 5 like 1 ISO OMIM NCBI chr30:11,767,166...11,788,402
Ensembl chr30:11,767,064...11,788,398
JBrowse link
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO OMIM NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO OMIM NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GIPC3 GIPC PDZ domain containing family member 3 ISO OMIM NCBI chr20:55,833,876...55,837,621 JBrowse link
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CATSPER2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 NCBI chr30:10,471,798...10,487,948
Ensembl chr30:10,471,814...10,487,739
JBrowse link
G LOC478277 creatine kinase U-type, mitochondrial ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr30:10,438,566...10,444,532 JBrowse link
G STRC stereocilin ISO OMIM NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 More... NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO OMIM NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOG otogelin ISO OMIM NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475
JBrowse link
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYL1 crystallin lambda 1 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 NCBI chr25:17,551,586...17,733,754
Ensembl chr25:17,562,926...17,733,630
JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,357,251...17,382,098
Ensembl chr25:17,357,328...17,381,821
JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,986,270...18,004,344
Ensembl chr25:18,002,817...18,004,160
JBrowse link
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G GJB3 gap junction protein beta 3 ISO OMIM NCBI chr15:7,175,010...7,177,145 JBrowse link
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707 PMID:25333454 PMID:25741868 NCBI chr15:7,193,183...7,195,586 JBrowse link
G GJB6 gap junction protein beta 6 ISO OMIM NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266
JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,386,815...17,390,315 JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,230,401...17,352,600
Ensembl chr25:17,230,031...17,348,031
JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 PMID:9285800 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G GJB6 gap junction protein beta 6 ISO OMIM NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA ISO OMIM NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 ClinVar NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723
JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TECTA tectorin alpha ISO OMIM NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147
JBrowse link
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOA otoancorin ISO OMIM NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380
JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO OMIM NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RDX radixin ISO OMIM NCBI chr 5:22,555,913...22,642,822
Ensembl chr 5:22,571,286...22,642,811
JBrowse link
autosomal recessive nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO OMIM NCBI chr13:39,766,910...39,882,076
Ensembl chr13:39,766,919...39,882,086
JBrowse link
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAB1 GRB2 associated binding protein 1 ISO OMIM NCBI chr19:10,269...117,808
Ensembl chr19:12,616...156,694
JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIO trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:25741868 PMID:32109419 NCBI chr34:271,572...505,656
Ensembl chr34:272,290...505,636
JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO OMIM NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083
JBrowse link
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN14 claudin 14 ISO OMIM NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446
JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO15A myosin XVA ISO OMIM NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 ClinVar NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723
JBrowse link
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA ISO OMIM NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043
JBrowse link
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WHRN whirlin ISO OMIM NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977
JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC14A cell division cycle 14A ISO OMIM NCBI chr 6:49,429,675...49,678,376
Ensembl chr 6:49,497,939...49,693,665
JBrowse link
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESRRB estrogen related receptor beta ISO OMIM NCBI chr 8:49,253,877...49,424,148
Ensembl chr 8:49,253,332...49,421,332
JBrowse link
autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESPN espin ISO OMIM NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676
JBrowse link
autosomal recessive nonsyndromic deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO OMIM NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724
JBrowse link
autosomal recessive nonsyndromic deafness 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGF hepatocyte growth factor ISO OMIM NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXI1 forkhead box I1 ISO OMIM NCBI chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO OMIM NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813
JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO OMIM NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212
JBrowse link
autosomal recessive nonsyndromic deafness 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ILDR1 immunoglobulin like domain containing receptor 1 ISO OMIM NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949
JBrowse link
autosomal recessive nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY1 adenylate cyclase 1 ISO OMIM NCBI chr16:1,064,644...1,166,864
Ensembl chr16:1,037,162...1,167,094
JBrowse link
autosomal recessive nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB2 calcium and integrin binding family member 2 ISO OMIM
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARVELD2 MARVEL domain containing 2 ISO OMIM NCBI chr 2:54,438,046...54,458,890
Ensembl chr 2:54,441,797...54,457,515
JBrowse link
autosomal recessive nonsyndromic deafness 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO OMIM NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
JBrowse link
autosomal recessive nonsyndromic deafness 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDZD7 PDZ domain containing 7 ISO OMIM NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784
JBrowse link
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PJVK pejvakin ISO OMIM NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249
JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chr36:22,061,226...22,080,324
Ensembl chr36:22,061,461...22,080,612
JBrowse link
autosomal recessive nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMIE transmembrane inner ear ISO OMIM NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262
JBrowse link
autosomal recessive nonsyndromic deafness 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A5 solute carrier family 26 member 5 ISO OMIM NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940
JBrowse link
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558
JBrowse link
G LOC106560171 transmembrane O-methyltransferase ISO OMIM NCBI chr21:25,975,547...25,981,097 JBrowse link
G LRTOMT leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266 PMID:25741868 NCBI chr21:25,987,687...26,000,545
Ensembl chr21:25,987,433...26,000,327
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549
JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCDC2 doublecortin domain containing 2 ISO OMIM NCBI chr35:22,264,484...22,422,769
Ensembl chr35:22,266,282...22,422,776
JBrowse link
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO OMIM NCBI chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413
JBrowse link
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G S1PR2 sphingosine-1-phosphate receptor 2 ISO OMIM NCBI chr20:50,855,505...50,862,985
Ensembl chr20:50,860,591...50,861,649
JBrowse link
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPHS2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 ClinVar NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020
JBrowse link
G TMC1 transmembrane channel like 1 ISO OMIM NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 ClinVar PMID:18616530 PMID:19187973 PMID:21917145 NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723
JBrowse link
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPT1 polyribonucleotide nucleotidyltransferase 1 ISO OMIM NCBI chr10:56,478,771...56,520,992
Ensembl chr10:56,478,680...56,520,967
JBrowse link
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSRB3 methionine sulfoxide reductase B3 ISO OMIM NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043
JBrowse link
autosomal recessive nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNE4 spectrin repeat containing nuclear envelope family member 4 ISO OMIM NCBI chr 1:116,676,365...116,686,911
Ensembl chr 1:116,670,841...116,680,515
JBrowse link
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO OMIM NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 77 ClinVar PMID:21465660 NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723
JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPRN taperin ISO OMIM
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMPRSS3 transmembrane serine protease 3 ISO OMIM NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520
JBrowse link
autosomal recessive nonsyndromic deafness 84A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRQ protein tyrosine phosphatase receptor type Q ISO OMIM NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762
JBrowse link
autosomal recessive nonsyndromic deafness 84B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOGL otogelin like ISO OMIM NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956
JBrowse link
autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNF cyclin F ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO OMIM NCBI chr 6:38,531,547...38,557,472 JBrowse link
autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELMOD3 ELMO domain containing 3 ISO OMIM NCBI chr17:39,642,101...39,668,079
Ensembl chr17:39,643,676...39,665,726
JBrowse link
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KARS1 lysyl-tRNA synthetase 1 ISO OMIM NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197
JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:24218524 PMID:25326637 PMID:26467025 NCBI chr 7:38,085,441...38,123,037
Ensembl chr 7:38,085,885...38,122,974
JBrowse link
G IGSF6 immunoglobulin superfamily member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 6:23,185,442...23,195,432
Ensembl chr 6:23,185,461...23,194,787
JBrowse link
G METTL9 methyltransferase like 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 6:23,182,800...23,230,288
Ensembl chr 6:23,183,103...23,230,262
JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380
JBrowse link
G OTOF otoferlin ISO OMIM NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750
JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:27082237 NCBI chr 5:41,687,436...41,797,354
Ensembl chr 5:41,688,479...41,808,918
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:18381613 NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723
JBrowse link
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINB6 serpin family B member 6 ISO OMIM NCBI chr35:3,234,694...3,245,726
Ensembl chr35:3,234,697...3,262,829
JBrowse link
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CABP2 calcium binding protein 2 ISO OMIM NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268
JBrowse link
autosomal recessive nonsyndromic deafness 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chr21:20,277,707...20,413,624
Ensembl chr21:20,277,507...20,606,736
JBrowse link
autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MET MET proto-oncogene, receptor tyrosine kinase ISO OMIM NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO OMIM NCBI chr31:38,273,306...38,340,525
Ensembl chr31:38,272,592...38,337,373
JBrowse link
autosomal recessive nonsyndromic deafness 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM132E transmembrane protein 132E ISO OMIM NCBI chr 9:38,671,687...38,688,875
Ensembl chr 9:38,671,711...38,682,209
JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC9A1 solute carrier family 9 member A1 ISO OMIM NCBI chr 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364
JBrowse link
autosomal-mitochondrial sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAF MAF bZIP transcription factor ISO OMIM NCBI chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735
JBrowse link
Bart-Pumphrey syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSND barttin CLCNK type accessory subunit beta ISO OMIM NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110
JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKA chloride voltage-gated channel Ka ISO OMIM NCBI chr 2:81,612,382...81,627,742 JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO OMIM NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593
JBrowse link
Bilateral Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA 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
JBrowse link
G NEFH neurofilament heavy chain disease_progression ISO RGD PMID:27457532 RGD:27372873 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
JBrowse link
G SLC26A4 solute carrier family 26 member 4 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
JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO OMIM NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516
JBrowse link
blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Legal blindness ClinVar PMID:9973280 PMID:10958761 PMID:24938718 PMID:25312043 PMID:25741868 More... NCBI chr 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 susceptibility ISO RGD PMID:10873396 RGD:1599003 NCBI chr 5:30,824,571...30,835,025
Ensembl chr 5:30,824,683...30,834,128
JBrowse link
G AQP4 aquaporin 4 ISO associated with Multiple Sclerosis, Relapsing-Remitting; RGD PMID:17702782 RGD:8696024 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25558065 PMID:27270415 NCBI chr 4:8,409,039...8,424,776
Ensembl chr 4:8,409,484...8,424,644
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15114530 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:20683928 PMID:20690115 More... NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr10:56,632,801...56,694,872
Ensembl chr10:56,579,899...56,787,187
JBrowse link
G LCA5 lebercilin LCA5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546029 NCBI chr12:40,443,759...40,527,300
Ensembl chr12:40,444,617...40,527,292
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109
JBrowse link
G MYO15A myosin XVA induces ISO DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat)
compared to LEW/Ztm
RGD PMID:21479269 RGD:150429616 NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16150724 PMID:16226919 NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Legal blindness ClinVar PMID:15015129 PMID:15043528 PMID:15241801 PMID:15325563 PMID:16963483 More... NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:23093773 RGD:11075234 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G VSX2 visual system homeobox 2 susceptibility ISO microphthalmia, OMIM:251600;DNA:missense mutations: :p.R200Q , p.R200P RGD PMID:10932181 RGD:734779 NCBI chr 8:47,455,337...47,473,786
Ensembl chr 8:47,455,340...47,473,684
JBrowse link
blue color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1SW opsin 1, short wave sensitive ISO OMIM NCBI chr14:7,865,370...7,869,516
Ensembl chr14:7,865,561...7,868,745
JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1LW opsin 1, medium wave sensitive ISO OMIM NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418
JBrowse link
Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC52A2 solute carrier family 52 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621
JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003
JBrowse link
Brown-Vialetto-Van Laere syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC52A2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 ClinVar PMID:25741868 NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621
JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO OMIM NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003
JBrowse link
Brown-Vialetto-Van Laere syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCK5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,800,562...37,817,449
Ensembl chr13:37,799,956...37,818,256
JBrowse link
G BOP1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,698,635...37,723,803
Ensembl chr13:37,698,698...37,724,457
JBrowse link
G CPSF1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,817,440...37,827,868
Ensembl chr13:37,817,442...37,825,212
JBrowse link
G CYC1 cytochrome c1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,590,919...37,593,239
Ensembl chr13:37,590,912...37,593,156
JBrowse link
G CYHR1 cysteine and histidine rich 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,860,452...37,871,982
Ensembl chr13:37,858,424...37,874,624
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,745,395...37,761,337
Ensembl chr13:37,741,706...37,756,916
JBrowse link
G EXOSC4 exosome component 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,574,359...37,576,331
Ensembl chr13:37,574,527...37,577,380
JBrowse link
G FBXL6 F-box and leucine rich repeat protein 6 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,780,991...37,783,976
Ensembl chr13:37,780,974...37,785,045
JBrowse link
G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319
JBrowse link
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
JBrowse link
G GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G MROH1 maestro heat like repeat family member 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,645,810...37,698,550
Ensembl chr13:37,645,876...37,698,342
JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,555,035...37,564,241
Ensembl chr13:37,555,045...37,564,810
JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
JBrowse link
G SCRT1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532
G SCX scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,701,781...37,704,949
Ensembl chr13:37,703,232...37,704,657
JBrowse link
G SHARPIN SHANK associated RH domain interactor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,594,155...37,598,510
Ensembl chr13:37,594,203...37,599,456
JBrowse link
G SLC39A4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,833,073...37,838,304
Ensembl chr13:37,833,156...37,838,522
JBrowse link
G SLC52A2 solute carrier family 52 member 2 ISO OMIM NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621
JBrowse link
G SPATC1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,530,211...37,550,797 JBrowse link
G TMEM249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,778,698...37,780,774
Ensembl chr13:37,778,730...37,780,385
JBrowse link
G TONSL tonsoku like, DNA repair protein ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,846,010...37,857,633
Ensembl chr13:37,846,149...37,857,668
JBrowse link
G VPS28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,841,524...37,845,954
Ensembl chr13:37,841,518...37,846,339
JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:600,804...635,013
Ensembl chr 1:602,264...635,348
JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:1,136,862...1,374,102
Ensembl chr 1:1,136,865...1,374,514
JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:886,973...945,994
Ensembl chr 1:762,020...946,142
JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:2,750,117...2,785,329
Ensembl chr 1:2,729,331...2,742,231
Ensembl chr 1:2,729,331...2,742,231
JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:743,321...747,401
Ensembl chr 1:744,458...747,200
JBrowse link
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:805,892...866,031 JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860
JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:1,027,021...1,121,362
Ensembl chr 1:1,028,695...1,121,588
JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:478,310...567,728
Ensembl chr 1:497,071...565,905
JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:692,870...722,681 JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:1,413,991...1,421,516
Ensembl chr 1:1,416,390...1,435,326
JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:758,456...801,227
Ensembl chr 1:757,856...802,373
JBrowse link
G TXNL4A thioredoxin like 4A ISO OMIM NCBI chr 1:722,223...735,253
Ensembl chr 1:722,293...735,258
JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:2,959,113...3,062,349
Ensembl chr 1:2,961,498...3,061,984
JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:3,275,255...3,400,761
Ensembl chr 1:3,274,993...3,492,201
JBrowse link
camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 ISO OMIM NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO OMIM NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Not