Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:24033266, PMID:28041643 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:28492532, PMID:29525873, PMID:30718709 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, PMID:17265047, PMID:17693388, PMID:18445228, PMID:18521937, PMID:20079539, PMID:20238023, PMID:20506298, PMID:20549516, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24148654, PMID:24504161, PMID:24903488, PMID:25168900, PMID:25616768, PMID:25637600, PMID:25741868, PMID:25943428, PMID:26992781, PMID:27820752, PMID:28159970, PMID:28341476, PMID:28492532, PMID:28559085, PMID:29053603, PMID:30311386, PMID:30682209 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, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16319819, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25205868, PMID:25558176, PMID:25616768, PMID:25741868, PMID:25770143, PMID:26106334, PMID:27479814, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709, PMID:32860008 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:10393054, PMID:18614542, PMID:19615668, PMID:19887631, PMID:23776498, PMID:25741868, PMID:26103963, PMID:28041643, PMID:28492532, PMID:28704108, PMID:30080950 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)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
RGD
ClinVar
PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17693388, PMID:18521937, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24903488, PMID:25616768, PMID:25741868, PMID:25943428, PMID:26992781, PMID:28492532, PMID:30311386, PMID:30682209 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 ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
DNA:deletion: :c.1148delC (human)
RGD
ClinVar
PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:21576125, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25558176, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709, PMID:32860008 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 ABCA4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Total colorblindness ClinVar PMID:9466990, PMID:9666097, PMID:9973280, PMID:10413692, PMID:10958763, PMID:11702214, PMID:12192456, PMID:12796258, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:24033266, PMID:24265693, PMID:26872967, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29162642, PMID:29555955, PMID:29854428, PMID:30311386, PMID:30718709, PMID:31576780 NCBI chr 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IEA
ISO
Achromatopsia-2 OMIA
OMIM
PMID:26407004 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: Total colorblindness ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:30311386, PMID:30718709, PMID:32860008 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
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
IEA
Achromatopsia (cone degeneration, hemeralopia), GSPT
Achromatopsia (cone degeneration, hemeralopia), AMAL
OMIM
OMIA
PMID:5298491, PMID:12140185, PMID:16879359, PMID:20061167, PMID:20378608, PMID:22065099, PMID:23568263, PMID:23601474, PMID:25752464, PMID:29020838 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:19887631, PMID:25741868, PMID:30080950 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 ATOH1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868, PMID:30311386 NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:30311386 NCBI chr  X:42,302,971...42,327,787
Ensembl chr  X:42,303,158...42,326,774
JBrowse link
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:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 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, PMID:8680405, PMID:9742104, PMID:10577941, PMID:16152638, PMID:17659260, PMID:20301595 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
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, PMID:24082139, PMID:25741868, PMID:26284702, PMID:26346818, PMID:26467025, PMID:27393652, PMID:28492532, PMID:30311386, PMID:30828794 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 GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI 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 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 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
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 BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 13 ClinVar PMID:1157798, PMID:11802208, PMID:12161611, PMID:15744030, PMID:15923272, PMID:16489001, PMID:17403394, PMID:18036263, PMID:19404736, PMID:20516115, PMID:21702907, PMID:22034289, PMID:22889855, PMID:23867111, PMID:24055113, PMID:25637381, PMID:25741868, PMID:26287763, PMID:26467025, PMID:26689913, PMID:27495310, PMID:28024868, PMID:28492532, PMID:28781887, PMID:30209399, PMID:30263132, PMID:30458859 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
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 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 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 CDH23 cadherin related 23 ISO DNA:missense mutations:multiple RGD PMID:17850630 RGD:8662281 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
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 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 PMID:20602914, PMID:22578326 NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690
JBrowse link
G LOXHD1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19732867, PMID:21465660, PMID:25741868, PMID:25792669, PMID:28000701, PMID:28492532 NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858
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 OTOF otoferlin ISO DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Deafness, autosomal recessive
RGD
ClinVar
PMID:17967520, PMID:27082237 RGD:9479154 NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868, PMID:25960145, PMID:28492532 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
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 NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212
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 adapter 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 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, PMID:17850630, PMID:18273900, PMID:18429043, PMID:20146813, PMID:21228398, PMID:21569298, PMID:21940737, PMID:22135276, PMID:22899989, PMID:24033266, PMID:24875298, PMID:25468891, PMID:25741868, PMID:26467025, PMID:28492532 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 CKMT1A creatine kinase, mitochondrial 1A 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, PMID:12107438, PMID:12136232, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:16679490, PMID:16963483, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:20142502, PMID:20301442, PMID:20671281, PMID:21203349, PMID:21436283, PMID:21487335, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:24416283, PMID:24875298, PMID:25356976, PMID:25468891, PMID:25525159, PMID:25560255, PMID:25741868, PMID:26969326, PMID:27743452, PMID:28041643, PMID:28492532, PMID:30096381, PMID:30718709 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, PMID:9328482, PMID:9336442, PMID:9422505, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10501520, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10980526, PMID:10982180, PMID:10982182, PMID:10983956, PMID:11074495, PMID:11102979, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11385713, PMID:11386851, PMID:11438992, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11807148, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12064630, PMID:12072059, PMID:12081719, PMID:12111646, PMID:12112666, PMID:12121355, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12352684, PMID:12384501, PMID:12384781, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12522692, PMID:12560944, PMID:12684873, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12885339, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14505035, PMID:14520102, PMID:14571368, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15482471, PMID:15617550, PMID:15638823, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15855033, PMID:15937416, PMID:15954104, PMID:15964725, PMID:15967879, PMID:15994881, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16467727, PMID:16532460, PMID:16545002, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17505205, PMID:17553572, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, PMID:18324688, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18804553, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19050930, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19465004, PMID:19586875, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20095872, PMID:20096468, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20497192, PMID:20563649, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20981092, PMID:21056478, PMID:21094084, PMID:21122151, PMID:21162657, PMID:21465647, PMID:21468573, PMID:21488715, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22747691, PMID:22785241, PMID:22796187, PMID:22855627, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22991996, PMID:22995991, PMID:23141775, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23967136, PMID:24013081, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24341454, PMID:24346070, PMID:24529908, PMID:24611097, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26096904, PMID:26117665, PMID:26119842, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26681637, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:27045574, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27610647, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843504, PMID:27884957, PMID:28000701, PMID:28489599, PMID:28492532, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30989077, PMID:31160754, PMID:163800907 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
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:8643598, PMID:22495306, PMID:23033978, PMID:24038936, PMID:25363760, PMID:25533962, PMID:25741868, PMID:26721934, PMID:27418539, PMID:28928363, 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
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 LMNA lamin A/C ISO ClinVar Annotator: match by term: Dilated vestibular aqueduct ClinVar PMID:15205219, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26602028, PMID:28492532 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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 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 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 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 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 USH2A usherin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 77 ClinVar PMID:10729113, PMID:15015129, PMID:15043528, PMID:15241801, PMID:15325563, PMID:16963483, PMID:18641288, PMID:20301515, PMID:21465660, PMID:22135276, PMID:22334370, PMID:24033266, PMID:24265693, PMID:24498627, PMID:24944099, PMID:25649381, PMID:25741868, PMID:25999674, PMID:28041643, PMID:28492532, PMID:28559085 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
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
IEA
Deafness, unilateral and vestibular dysfunction OMIM
OMIA
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, PMID:26467025, PMID:27259978, PMID:27281533, PMID:28301460, PMID:28492532, PMID:29358611 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 COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:25326637, PMID:28492532 NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728
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
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 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 Annotator: match by term: Vision loss
ClinVar PMID:9054934, PMID:9466990, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10711710, PMID:10958763, PMID:11017087, PMID:11328725, PMID:11527935, PMID:11702214, PMID:12192456, PMID:12796258, PMID:15579991, PMID:16103129, PMID:16303926, PMID:19074458, PMID:19217903, PMID:21911583, PMID:22264887, PMID:22312191, PMID:22995991, PMID:23755871, PMID:23769331, PMID:23918662, PMID:24033266, PMID:24509150, PMID:24713488, PMID:25087612, PMID:25712131, PMID:25741868, PMID:26103963, PMID:26229699, PMID:26593885, PMID:27014590, PMID:27367509, PMID:27820952, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29114839, PMID:29186038, PMID:29847635, PMID:30311386, PMID:30718709 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:17345604, PMID:17564967, PMID:20683928, PMID:21866095, PMID:23188109, PMID:25741868, PMID:25920555, PMID:26092869, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29398085, PMID:30311386 NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
JBrowse link
G CERKL ceramide kinase like ISO ClinVar Annotator: match by term: Vision loss ClinVar PMID:14681825, PMID:21151602, PMID:22164218, PMID:24043777, PMID:24625443, PMID:25097241, PMID:25741868, PMID:25999674, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709, PMID:221642182 NCBI chr36:24,708,109...24,839,240
Ensembl chr36:24,710,035...24,859,028
JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
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 LRRK2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: VISION LOSS ClinVar NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
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 NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: VISION LOSS ClinVar PMID:21520333, PMID:28492532, PMID:30311386 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
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 TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr14:58,941,658...59,005,507
Ensembl chr14:58,941,551...59,005,463
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Legal blindness ClinVar PMID:15015129, PMID:15043528, PMID:15241801, PMID:15325563, PMID:16963483, PMID:18273898, PMID:20513143, PMID:21569298, PMID:24033266, PMID:24498627, PMID:24944099, PMID:25575603, PMID:25741868, PMID:26927203, PMID:27460420, PMID:28492532, PMID:30311386 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 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 1:2,721,326...2,742,012
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 Notes Source PubMed Reference(s) RGD Reference(s) Position
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635
JBrowse link
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMC1 ER membrane protein complex subunit 1 ISO OMIM NCBI chr 2:79,367,154...79,393,096
Ensembl chr 2:79,367,185...79,392,314
JBrowse link
Cerebral Visual Impairment and Intellectual Disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr17:58,213,016...58,230,934
Ensembl chr17:58,193,586...58,230,491
JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 2:72,711,626...72,762,802
Ensembl chr 2:72,747,701...72,752,605
JBrowse link
G AMOT angiomotin ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr  X:85,742,610...85,807,557
Ensembl chr  X:85,745,207...85,807,353
JBrowse link
G ARHGEF10L Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 2:80,666,992...80,827,032
Ensembl chr 2:80,642,298...80,808,567
JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr33:18,038,143...18,103,649
Ensembl chr33:18,038,801...18,101,435
JBrowse link
G DCAF6 DDB1 and CUL4 associated factor 6 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 7:30,413,441...30,544,421
Ensembl chr 7:30,413,553...30,544,260
JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515, PMID:27479843 NCBI chr 5:32,165,399...32,175,600
Ensembl chr 5:32,163,594...32,188,126
JBrowse link
G GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 4:49,342,527...49,579,697
Ensembl chr 4:49,342,508...49,578,092
JBrowse link
G KCTD19 potassium channel tetramerization domain containing 19 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 5:82,060,946...82,093,248
Ensembl chr 5:82,061,449...82,093,246
JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:25804403, PMID:26350515 NCBI chr37:6,430,344...6,499,310
Ensembl chr37:6,431,476...6,499,359
JBrowse link
G RERE arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515, PMID:27087320 NCBI chr 5:61,868,288...62,249,009
Ensembl chr 5:61,868,685...62,215,973
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260
JBrowse link
G SLC25A16 solute carrier family 25 member 16 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 4:19,695,305...19,738,832
Ensembl chr 4:19,697,034...19,738,834
JBrowse link
G SOX5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr27:22,857,661...23,855,709
Ensembl chr27:23,452,985...23,851,380
JBrowse link
G SPATA6L spermatogenesis associated 6 like ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 1:92,994,949...93,041,135
Ensembl chr 1:92,994,946...93,041,135
JBrowse link
G UFSP2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr16:45,208,741...45,230,041
Ensembl chr16:45,208,863...45,229,996
JBrowse link
G UHMK1 U2AF homology motif kinase 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr38:20,247,564...20,277,941
Ensembl chr38:20,190,375...20,277,923
JBrowse link
G ZFP30 ZFP30 zinc finger protein ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 1:115,744,884...115,804,289
Ensembl chr 1:115,787,186...115,803,956
Ensembl chr 1:115,787,186...115,803,956
JBrowse link
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PMP22 peripheral myelin protein 22 ISO OMIM NCBI chr 5:38,806,731...38,839,002
Ensembl chr 5:38,807,826...38,838,971
JBrowse link
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZ myelin protein zero ISO OMIM NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO OMIM NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA
ClinVar Annotator: match by term: Cowchock syndrome
ClinVar PMID:3856385, PMID:20362274, PMID:20818383, PMID:22019070, PMID:23217327, PMID:23806086, PMID:24088041, PMID:25583628, PMID:25590979, PMID:25741868, PMID:25934856, PMID:25986071, PMID:26173962, PMID:26257172, PMID:27102849, PMID:28492532, PMID:28842795, PMID:28967629, PMID:31523922 NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOD1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,545,991...30,557,199
Ensembl chr22:30,547,271...30,555,510
JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:149,538...162,206
Ensembl chr22:151,641...162,512
JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266
JBrowse link
G BORA BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:26,880,351...26,906,226
Ensembl chr22:26,879,933...26,906,278
JBrowse link
G CAB39L calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,319,239...2,426,554
Ensembl chr22:2,354,884...2,460,857
JBrowse link
G CCDC70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:258,746...263,908
Ensembl chr22:258,880...259,563
JBrowse link
G CDADC1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,443,459...2,489,147
Ensembl chr22:2,436,206...2,489,016
JBrowse link
G CKAP2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr25:134,914...190,810
Ensembl chr25:135,586...150,835
JBrowse link
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,568,572...30,575,890
Ensembl chr22:30,568,572...30,575,890
JBrowse link
G CNMD chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:9,745,959...9,792,663
Ensembl chr22:9,753,441...9,759,713
JBrowse link
G COMMD6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:29,318,216...29,336,032
Ensembl chr22:29,318,231...29,336,062
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,914,960...2,962,517
Ensembl chr22:2,917,514...2,918,551
JBrowse link
G DACH1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:25,690,700...25,934,449
Ensembl chr22:25,726,597...25,934,550
JBrowse link
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031
JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:26,908,502...26,935,368
Ensembl chr22:26,909,409...26,935,033
JBrowse link
G EBPL EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,116,588...2,137,935
Ensembl chr22:2,116,131...2,182,633
JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587
JBrowse link
G FAM124A family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:786,588...809,284 JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,579,598...30,598,879
Ensembl chr22:30,581,474...30,598,886
JBrowse link
G FNDC3A fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,524,173...2,700,223
Ensembl chr22:2,526,381...2,700,780
JBrowse link
G INTS6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:549,221...636,810
Ensembl chr22:549,179...636,523
JBrowse link
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433
JBrowse link
G KCNRG potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,870,964...1,875,849 JBrowse link
G KCTD12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,506,906...30,508,782
Ensembl chr22:30,503,932...30,508,632
JBrowse link
G KLF12 Kruppel like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:27,695,017...28,264,813
Ensembl chr22:27,704,686...28,123,099
JBrowse link
G KLF5 Kruppel like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:27,163,179...27,185,241
Ensembl chr22:27,162,397...27,200,871
JBrowse link
G KLHL1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:24,190,862...24,554,451
Ensembl chr22:24,191,778...24,555,120
JBrowse link
G KPNA3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,064,733...2,110,524
Ensembl chr22:2,064,731...2,108,414
JBrowse link
G LMO7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:29,415,374...29,619,215
Ensembl chr22:29,415,337...29,618,667
JBrowse link
G LOC111091424 proline-rich protein 20A-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr20:1,415,769...1,422,703 JBrowse link
G LOC485469 protocadherin-8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:9,860,590...9,865,298 JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,110,797...3,112,973
Ensembl chr22:3,111,462...3,112,499
JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608
JBrowse link
G MIR15A microRNA mir-15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,846,880...1,846,938
Ensembl chr22:1,846,866...1,846,960
JBrowse link
G MIR16-1 microRNA mir-16-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,847,020...1,847,084
Ensembl chr22:1,847,007...1,847,093
JBrowse link
G MLNR motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,513,218...2,515,380
Ensembl chr22:2,513,218...2,515,380
JBrowse link
G MYCBP2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,614,692...30,874,173
Ensembl chr22:30,615,369...30,874,370
JBrowse link
G MZT1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:26,862,454...26,880,213
Ensembl chr22:26,863,674...26,880,126
JBrowse link
G NDFIP2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:32,723,052...32,789,409
Ensembl chr22:32,704,437...32,787,151
JBrowse link
G NEK3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr25:118,558...130,901 JBrowse link
G NEK5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:108,089...134,987 JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,416,702...3,424,607
Ensembl chr22:3,416,578...3,424,409
JBrowse link
G OBI1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:32,006,441...32,047,609
Ensembl chr22:32,007,210...32,047,527
JBrowse link
G OLFM4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:10,053,494...10,075,759
Ensembl chr22:9,944,025...10,074,722
JBrowse link
G PCDH17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:13,865,138...13,962,110
Ensembl chr22:13,865,900...13,958,405
JBrowse link
G PCDH20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:17,150,498...17,156,091
Ensembl chr22:17,151,913...17,155,892
JBrowse link
G PCDH9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:21,326,040...22,212,847
Ensembl chr22:21,327,856...22,213,083
JBrowse link
G PHF11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,235,758...2,263,772 JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:26,935,390...27,133,308
Ensembl chr22:26,936,567...27,133,308
JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:31,992,657...31,997,066 JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RBM26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:32,579,401...32,664,370
Ensembl chr22:32,581,825...32,664,714
JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,183,089...2,230,748
Ensembl chr22:2,198,185...2,229,485
JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,018,628...3,051,059
Ensembl chr22:3,018,137...3,051,269
JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223
JBrowse link
G SCEL sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,874,267...31,171,598
Ensembl chr22:31,045,878...31,171,033
JBrowse link
G SERPINE3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:637,600...666,028
Ensembl chr22:636,466...663,695
JBrowse link
G SETDB2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,263,990...2,319,249
Ensembl chr22:2,244,507...2,319,158
JBrowse link
G SLAIN1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:31,199,494...31,258,920
Ensembl chr22:31,199,533...31,258,021
JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:36,325,548...36,329,784
Ensembl chr22:36,326,751...36,328,841
JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:37,911,533...37,918,273
Ensembl chr22:37,912,612...37,925,177
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878
JBrowse link
G SPRYD7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,929,814...1,947,506
Ensembl chr22:1,849,634...1,945,276
JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,440,908...3,478,683
Ensembl chr22:3,440,923...3,478,683
JBrowse link
G SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:9,682,026...9,723,412
Ensembl chr22:9,682,169...9,722,979
JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:29,109,079...29,175,357
Ensembl chr22:29,110,201...29,290,154
JBrowse link
G TDRD3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:16,287,721...16,449,842
Ensembl chr22:16,288,473...16,444,635
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560
JBrowse link
G TRIM13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,877,672...1,893,097
Ensembl chr22:1,871,181...1,910,055
JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:29,348,962...29,397,944
Ensembl chr22:29,348,706...29,407,965
JBrowse link
G VPS36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr25:150,984...191,531
Ensembl chr25:150,150...191,544
JBrowse link
G WDFY2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:304,250...467,909
Ensembl chr22:304,884...428,223
JBrowse link
Chudley-Mccullough syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCC1 chloride channel CLIC like 1 ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:42,807,432...42,829,317
Ensembl chr 6:42,807,064...42,829,273
JBrowse link
G GPSM2 G protein signaling modulator 2 ISO OMIM NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690
JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor ISO OMIM NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578
JBrowse link
color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
JBrowse link
G BDNF brain derived neurotrophic factor susceptibility ISO associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) RGD PMID:21640793 RGD:8655850 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Color vision defects
ClinVar Annotator: match by term: Achromatopsia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9662398, PMID:11536077, PMID:14757870, PMID:17693388, PMID:23972307, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30418171, PMID:30682209 RGD:734792 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 susceptibility ISO DNA:mutations
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10958649, PMID:30418171 RGD:1600870 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 CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12077706 RGD:1599034 NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:10655056, PMID:15453866, PMID:15459973, PMID:18294254, PMID:19273793, PMID:19718767, PMID:21217109, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr30:35,375,181...35,382,398 JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chr 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372
JBrowse link
G PDE6H phosphodiesterase 6H ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chr27:31,640,731...31,664,494
Ensembl chr27:31,640,737...31,664,401
JBrowse link
G RDH5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:30311386, PMID:30718709 NCBI chr10:120,386...125,195
Ensembl chr10:120,057...125,197
JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:10937588, PMID:20669900, PMID:23150612, PMID:24940031, PMID:28209709, PMID:28492532, PMID:30311386 NCBI chr  X:40,472,525...40,525,726
Ensembl chr  X:40,472,596...40,524,883
JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492
JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:48,651,766...48,920,733
Ensembl chr 8:48,651,814...48,920,039
JBrowse link
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 ISO OMIM NCBI chr22:46,323,263...46,402,240
Ensembl chr22:46,307,905...46,398,625
JBrowse link
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350, PMID:22563501, PMID:24220513, PMID:32214227 NCBI chr 5:44,882,111...45,021,152
Ensembl chr 5:44,884,283...45,120,203
JBrowse link
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHX3 LIM homeobox 3 ISO OMIM NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118
JBrowse link
Conductive Hearing Loss 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 ClinVar Annotator: match by term: Conductive hearing loss ClinVar PMID:24033266 NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Conductive hearing loss ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G CRB1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Conductive hearing loss ClinVar PMID:30311386 NCBI chr 7:5,277,394...5,490,542
Ensembl chr 7:5,277,394...5,490,470
JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10471511 NCBI chr29:20,176,306...20,595,131
Ensembl chr29:20,177,014...20,525,653
JBrowse link
G NOG noggin ISO RGD PMID:18096605 RGD:12801451 NCBI chr 9:31,453,604...31,456,060 JBrowse link
Cone-Rod Dystrophy and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP78 centrosomal protein 78 ISO OMIM NCBI chr 1:80,437,902...80,469,383
Ensembl chr 1:80,438,695...80,469,350
JBrowse link
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP250 centrosomal protein 250 ISO OMIM NCBI chr24:24,411,882...24,461,916
Ensembl chr24:24,418,859...24,461,640
JBrowse link
Congenital Anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 ISO RGD PMID:17898177 RGD:8662303 NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
JBrowse link
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC33A1 solute carrier family 33 member 1 ISO OMIM NCBI chr23:49,522,325...49,548,004
Ensembl chr23:49,523,852...49,547,904
JBrowse link
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF3 fibroblast growth factor 3 ISO OMIM NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009
JBrowse link
Congenital Myopathy with Neuropathy and Deafness