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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
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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 chr20:2,092,171...2,108,141
Ensembl chr20:1,856,850...1,872,452
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 6:156,009,815...156,067,675
Ensembl chr 6:158,068,838...158,126,603
JBrowse link
Abruzzo-Erickson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX22 T-box transcription factor 22 ISO OMIM NCBI chr  X:69,070,218...69,087,243
Ensembl chr  X:79,177,534...79,198,782
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 chr 1:137,178,629...137,382,256
Ensembl chr 1:140,977,750...141,176,725
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 chr11:62,813,477...62,820,425
Ensembl chr11:66,121,992...66,128,758
JBrowse link
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:28492532, PMID:30311386 NCBI chr12:1,906,894...2,030,991
Ensembl chr12:1,857,221...1,980,769
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 chr2A:100,911,053...100,962,278
Ensembl chr2A:99,259,808...99,308,517
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 chr 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 1:111,980,855...111,990,686
Ensembl chr 1:111,208,510...111,225,808
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 chr10:90,361,003...90,414,169
Ensembl chr10:93,871,704...93,924,654
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 chr2A:100,911,053...100,962,278
Ensembl chr2A:99,259,808...99,308,517
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 chr 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059
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 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO OMIM NCBI chr2A:100,911,053...100,962,278
Ensembl chr2A:99,259,808...99,308,517
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 chr 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059
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 OMIM NCBI chr 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059
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 1:111,980,855...111,990,686
Ensembl chr 1:111,208,510...111,225,808
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 chr10:90,361,003...90,414,169
Ensembl chr10:93,871,704...93,924,654
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 chr 1:137,178,629...137,382,256
Ensembl chr 1:140,977,750...141,176,725
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 chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chr19:45,872,596...45,876,376
Ensembl chr19:54,880,141...54,883,003
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 chr 4:86,188,534...86,191,301
Ensembl chr 4:96,863,762...96,864,832
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:41,504,804...41,533,501
Ensembl chr  X:49,356,994...49,385,678
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868 NCBI chr 6:10,237,834...10,260,843 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 chr17:69,465,488...69,474,667
Ensembl chr17:75,017,351...75,025,166
JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRMU tRNA mitochondrial 2-thiouridylase ISO OMIM Ensembl chr22:45,399,506...45,421,439 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 chr 4:103,112,624...103,137,356 JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO OMIM NCBI chr  X:96,720,988...96,743,594
Ensembl chr  X:107,094,898...107,117,117
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 chr 7:27,737,432...27,740,442
Ensembl chr 7:27,335,710...27,339,747
JBrowse link
G HOXA2 homeobox A2 ISO ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome ClinVar NCBI chr 7:27,745,138...27,747,129
Ensembl chr 7:27,344,469...27,346,789
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 chr17:68,808,123...68,818,642
Ensembl chr17:74,364,343...74,374,852
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 chr13:40,846,270...41,335,920
Ensembl chr13:59,676,307...60,056,672
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 chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
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 chr 8:19,422,423...19,446,799
Ensembl chr 8:16,369,937...16,394,284
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 chr 4:79,903,923...79,909,836 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 chr19:47,169,303...47,273,815
Ensembl chr19:56,081,644...56,177,902
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 chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
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 chr 3:10,260,556...10,643,346
Ensembl chr 3:10,611,619...10,738,006
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 chr18:14,482,493...14,763,789
Ensembl chr18:18,244,575...18,400,335
JBrowse link
G PDE1C phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chr 7:32,225,293...33,037,627
Ensembl chr 7:32,343,701...33,029,405
JBrowse link
G PLS1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:31397523 NCBI chr 3:139,629,825...139,747,080
Ensembl chr 3:147,289,205...147,338,600
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 5:136,876,396...136,980,097 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 6:131,016,143...131,306,251
Ensembl chr 6:135,116,978...135,404,403
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 chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752
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 chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO OMIM NCBI chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635
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 5:141,786,048...141,789,078
Ensembl chr 5:147,800,924...147,802,420
JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103785466 stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502, PMID:24033266 NCBI chr15:22,660,952...22,706,416
Ensembl chr15:40,740,387...40,757,999
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 chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
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 chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
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 chr 6:73,593,794...73,764,352
Ensembl chr 6:76,951,634...77,048,796
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 chr14:41,250,512...41,256,567
Ensembl chr14:59,515,324...59,527,494
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 chr12:97,935,177...98,001,240
Ensembl chr12:101,342,113...101,405,844
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 chr 4:66,984,466...67,012,301
Ensembl chr 4:73,526,085...73,582,242
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 chr 8:98,129,147...98,308,120
Ensembl chr 8:100,308,575...100,471,830
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 chr 1:40,076,552...40,133,913
Ensembl chr 1:41,396,111...41,452,780
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 chr 1:34,048,136...34,053,298 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 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
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 9:51,974,326...52,200,228
Ensembl chr 9:71,400,783...71,620,858
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 1:105,538,215...105,769,973
Ensembl chr 1:104,249,891...104,481,259
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 chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
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 chr13:1,549,089...1,559,452
Ensembl chr13:19,864,939...19,865,724
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 chr16:17,127,351...17,147,210
Ensembl chr16:21,290,477...21,310,446
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 chr12:129,969,793...129,974,399 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 chr 3:188,621,004...188,686,831
Ensembl chr 3:196,968,817...197,031,790
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 chr12:31,875,570...31,899,279
Ensembl chr12:32,130,708...32,152,335
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 chr19:47,169,303...47,273,815
Ensembl chr19:56,081,644...56,177,902
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 chr19:41,649,625...41,659,151
Ensembl chr19:50,254,123...50,262,808
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 chr 7:25,373,485...25,433,001
Ensembl chr 7:24,977,838...25,039,525
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 9:55,536,627...55,690,472 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 5:141,786,048...141,789,078
Ensembl chr 5:147,800,924...147,802,420
JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100977568 tenascin ISO OMIM NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299
JBrowse link
G PAPPA pappalysin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106, PMID:23936043 NCBI chr 9:87,287,289...87,535,414
Ensembl chr 9:115,671,212...115,883,435
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106, PMID:23936043 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822
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 Ensembl chr 4:6,345,864...6,379,287 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 chr12:119,808,718...119,829,378 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 chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
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 chr 6:107,169,540...107,185,815
Ensembl chr 6:111,218,303...111,234,203
JBrowse link
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOMER2 homer scaffold protein 2 ISO OMIM NCBI chr15:62,617,905...62,762,903
Ensembl chr15:80,737,570...80,784,729
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 chr12:86,036,501...86,124,274
Ensembl chr12:89,341,921...89,436,758
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 chr 1:140,634,117...140,788,567
Ensembl chr 1:144,422,789...144,579,027
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 chr 3:124,643,362...124,667,121
Ensembl chr 3:131,950,887...131,974,641
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 chr15:30,386,009...30,557,976
Ensembl chr15:48,719,150...48,890,708
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 chr 6:31,526,660...31,542,165
Ensembl chr 6:32,413,441...32,428,550
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 chr12:77,957,758...78,200,206
Ensembl chr12:81,068,545...81,310,857
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 chr 7:32,225,293...33,037,627
Ensembl chr 7:32,343,701...33,029,405
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 7:90,845,518...90,981,700
Ensembl chr 7:104,351,320...104,486,722
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 chr 3:139,629,825...139,747,080
Ensembl chr 3:147,289,205...147,338,600
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
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 chr14:11,649,072...11,665,231
Ensembl chr14:29,848,611...29,868,943
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 Ensembl chr 4:6,345,864...6,379,287 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 chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
JBrowse link
G CLIC5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 6:45,474,797...45,592,407
Ensembl chr 6:46,753,013...46,934,100
JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr 1:34,048,136...34,053,298 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 1:111,253,158...111,309,619 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 chr18:39,756,531...39,936,317
Ensembl chr18:43,290,579...43,469,921
JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
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 chr2A:26,454,010...26,555,642
Ensembl chr2A:26,546,959...26,647,278
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 chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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 chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637
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 5:98,475,410...98,558,189
Ensembl chr 5:104,175,883...104,258,688
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 5:141,309,249...141,322,523
Ensembl chr 5:147,324,358...147,337,633
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 chr12:15,617,536...15,788,537
Ensembl chr12:16,013,276...16,076,117
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 chr 6:45,474,797...45,592,407
Ensembl chr 6:46,753,013...46,934,100
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 chr 6:24,642,239...24,768,074
Ensembl chr 6:24,973,412...25,204,745
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 chr12:15,617,536...15,788,537
Ensembl chr12:16,013,276...16,076,117
JBrowse link
G EPS8L2 EPS8 like 2 ISO OMIM NCBI chr11:720,528...741,623
Ensembl chr11:765,689...787,128
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 chr17:69,796,205...69,806,290
Ensembl chr17:75,346,204...75,356,463
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 1:63,030,097...63,437,919
Ensembl chr 1:64,839,061...65,324,036
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 chr 8:91,261,488...91,327,990
Ensembl chr 8:93,203,198...93,530,653
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 chr14:11,649,072...11,665,231
Ensembl chr14:29,848,611...29,868,943
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 chr11:113,063,961...113,102,097
Ensembl chr11:117,023,102...117,034,209
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 5:43,733,861...43,856,941
Ensembl chr 5:44,388,582...44,497,302
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 chr19:41,649,625...41,659,151
Ensembl chr19:50,254,123...50,262,808
JBrowse link
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRAP GRB2 related adaptor protein ISO OMIM NCBI chr17:32,215,214...32,219,802 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 chr17:4,554,524...4,593,873
Ensembl chr17:4,547,597...4,584,493
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 chr 3:10,260,556...10,643,346
Ensembl chr 3:10,611,619...10,738,006
JBrowse link
G C10H10orf105 chromosome 10 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 chr10:68,182,453...68,190,718 JBrowse link
G CDH23 cadherin related 23 ISO OMIM NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
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 chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
JBrowse link
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CKMT1A creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr15:22,654,349...22,660,890 JBrowse link
G LOC103785466 stereocilin ISO OMIM NCBI chr15:22,660,952...22,706,416
Ensembl chr15:40,740,387...40,757,999
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 chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256
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 chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256
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 chr11:17,601,738...17,701,472
Ensembl chr11:17,287,150...17,386,100
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 chr13:1,729,724...1,852,031
Ensembl chr13:20,043,630...20,165,344
JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:2,049,642...2,100,864
Ensembl chr13:20,367,809...20,413,836
JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:1,464,542...1,488,240
Ensembl chr13:19,784,372...19,785,679
JBrowse link
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
G GJB3 gap junction protein beta 3 ISO OMIM NCBI chr 1:34,048,136...34,053,298 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 chr 1:34,027,433...34,029,415
Ensembl chr 1:35,209,877...35,210,677
JBrowse link
G GJB6 gap junction protein beta 6 ISO OMIM NCBI chr13:1,549,089...1,559,452
Ensembl chr13:19,864,939...19,865,724
JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:1,893,102...2,017,771
Ensembl chr13:20,206,471...20,331,204
JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:2,030,234...2,049,965
Ensembl chr13:20,343,537...20,361,535
JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:2,105,931...2,230,115
Ensembl chr13:20,418,609...20,542,370
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 chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
G GJB6 gap junction protein beta 6 ISO OMIM NCBI chr13:1,549,089...1,559,452
Ensembl chr13:19,864,939...19,865,724
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 chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752
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 chr16:15,530,399...15,657,565
Ensembl chr16:88,025,201...88,091,449
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 chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611
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 chr11:105,075,716...105,176,660
Ensembl chr11:108,921,477...109,005,557
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 chr 4:37,214,515...37,352,195
Ensembl chr 4:43,063,313...43,200,436
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 chr 4:135,697,939...135,834,755
Ensembl chr 4:146,996,936...147,133,672
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 chr 5:14,448,259...14,814,875
Ensembl chr 5:14,423,780...14,654,124
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 chr21:22,830,770...22,946,594
Ensembl chr21:36,187,306...36,188,025
JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100971960 unconventional myosin-XV ISO OMIM NCBI chr17:32,661,499...32,723,320 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 chr10:26,104,588...26,389,942
Ensembl chr10:26,469,742...26,754,989
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 chr 9:85,500,222...85,604,417
Ensembl chr 9:113,863,872...113,966,758
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 1:103,002,408...103,178,622
Ensembl chr 1:101,724,213...101,892,619
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 chr14:56,868,361...57,060,552
Ensembl chr14:75,839,333...76,266,895
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 1:5,184,666...5,222,473 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 chr 6:73,593,794...73,764,352
Ensembl chr 6:76,951,634...77,048,796
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 chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
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 5:165,468,600...165,473,088
Ensembl chr 5:172,228,840...172,232,692
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO OMIM NCBI chr 1:135,391,321...135,424,100 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 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO OMIM NCBI chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637
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 chr 3:119,088,855...119,124,831
Ensembl chr 3:125,996,018...126,032,041
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 chr 7:46,289,042...46,436,839
Ensembl chr 7:46,354,640...46,492,549
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 NCBI chr15:57,033,782...57,060,650
Ensembl chr15:75,998,797...76,025,485
JBrowse link
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 5:44,557,385...44,585,868
Ensembl chr 5:46,128,408...46,155,981
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 chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635
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 chr10:97,608,969...97,632,508
Ensembl chr10:101,085,370...101,107,034
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 chr2B:65,708,635...65,725,766
Ensembl chr2B:183,413,265...183,423,224
JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chr2B:65,689,029...65,708,493
Ensembl chr2B:183,393,819...183,413,174
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 chr 3:46,590,527...46,608,981 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 chr 7:95,363,028...95,437,527
Ensembl chr 7:108,088,197...108,178,578
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 chr11:67,186,653...67,193,102
Ensembl chr11:70,411,031...70,416,484
JBrowse link
G LOC100967430 leucine-rich repeat-containing protein 51 ISO OMIM NCBI chr11:67,160,599...67,189,746 JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr11:67,083,378...67,160,747
Ensembl chr11:70,307,847...70,384,425
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 chr 6:24,001,971...24,186,530
Ensembl chr 6:24,337,188...24,520,082
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 chr 6:35,367,304...35,389,595
Ensembl chr 6:36,569,008...36,589,102
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 chr19:9,771,888...9,781,944
Ensembl chr19:10,436,502...10,437,563
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 9:51,974,326...52,200,228
Ensembl chr 9:71,400,783...71,620,858
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 chr2A:55,792,412...55,848,242
Ensembl chr2A:56,931,365...56,986,326
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 chr12:23,449,225...23,638,287
Ensembl chr12:23,953,759...24,142,578
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 chr19:32,921,175...32,927,266
Ensembl chr19:41,671,236...41,675,697
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 chr18:39,756,531...39,936,317
Ensembl chr18:43,290,579...43,469,921
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 chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216
JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPRN taperin ISO OMIM NCBI chr 9:108,251,235...108,261,541 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 chr21:28,679,488...28,703,313
Ensembl chr21:41,997,642...42,022,740
JBrowse link
autosomal recessive nonsyndromic deafness 84A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRQ protein tyrosine phosphatase receptor type Q ISO OMIM NCBI chr12:77,957,758...78,200,206
Ensembl chr12:81,068,545...81,310,857
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 chr12:77,630,854...77,894,894
Ensembl chr12:80,845,643...81,005,480
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 chr16:1,285,379...1,314,972
Ensembl chr16:2,529,371...2,556,438
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO OMIM NCBI chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
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 chr2A:85,407,326...85,444,298
Ensembl chr2A:86,958,957...86,994,897
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 chr16:56,196,867...56,216,909
Ensembl chr16:75,545,002...75,565,043
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 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651
JBrowse link
G IGSF6 immunoglobulin superfamily member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr16:15,668,232...15,680,218
Ensembl chr16:87,989,104...88,000,632
JBrowse link
G METTL9 methyltransferase like 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr16:15,664,019...15,722,148
Ensembl chr16:87,947,735...88,003,683
JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr16:15,530,399...15,657,565
Ensembl chr16:88,025,201...88,091,449
JBrowse link
G OTOF otoferlin ISO OMIM NCBI chr2A:26,454,010...26,555,642
Ensembl chr2A:26,546,959...26,647,278
JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868, PMID:27082237 NCBI chr17:33,484,543...33,614,608
Ensembl chr17:38,431,946...38,461,861
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 chr 6:2,770,689...2,794,737
Ensembl chr 6:2,873,790...2,896,631
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 chr11:62,877,978...62,882,653 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 chr11:73,496,423...73,634,623
Ensembl chr11:77,117,668...77,255,037
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 chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
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 chr21:30,791,051...31,005,330
Ensembl chr21:44,087,591...44,299,041
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 chr17:22,147,621...22,207,369
Ensembl chr17:22,440,879...22,454,501
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 1:26,359,818...26,418,910
Ensembl chr 1:27,414,937...27,475,089
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 chr16:60,188,494...60,194,871 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 chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
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 1:54,281,736...54,292,159
Ensembl chr 1:55,869,495...55,879,674
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 1:15,159,362...15,171,376
Ensembl chr 1:16,152,022...16,163,777
JBrowse link
G CLCNKB chloride voltage-gated channel Kb ISO OMIM NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166
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 chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
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 chr10:26,104,588...26,389,942
Ensembl chr10:26,469,742...26,754,989
JBrowse link
G NEFH neurofilament heavy disease_progression ISO RGD PMID:27457532 RGD:27372873 NCBI chr22:10,525,738...10,536,788 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 chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637
JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100988698 mitochondrial chaperone BCS1 ISO OMIM NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856
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 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589
JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 susceptibility ISO RGD PMID:10873396 RGD:1599003 NCBI chr17:6,463,812...6,473,636
Ensembl chr17:6,450,420...6,461,868
JBrowse link
G AQP4 aquaporin 4 ISO associated with Multiple Sclerosis, Relapsing-Remitting; RGD PMID:17702782 RGD:8696024 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25558065, PMID:27270415 NCBI chr 1:206,527,777...206,549,606
Ensembl chr 1:211,554,553...211,576,484
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15114530 NCBI chr2B:102,574,700...102,612,492
Ensembl chr2B:221,159,439...221,197,360
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 chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
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 chr2B:68,800,462...68,921,793 JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr2A:56,017,678...56,076,059
Ensembl chr2A:57,155,000...57,212,500
JBrowse link
G LCA5 lebercilin LCA5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546029 NCBI chr 6:77,366,248...77,418,718
Ensembl chr 6:80,636,181...80,688,609
JBrowse link
G LRRK2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr12:48,343,621...48,488,337
Ensembl chr12:49,205,930...49,350,462
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: VISION LOSS ClinVar PMID:21520333, PMID:28492532, PMID:30311386 NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16150724, PMID:16226919 NCBI chr 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904
JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr 7:112,790,606...112,861,730
Ensembl chr 7:125,478,472...125,549,091
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 chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:23093773 RGD:11075234 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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 chr14:54,797,734...54,821,081 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 chr 7:120,724,363...120,727,649
Ensembl chr 7:133,246,131...133,251,464
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 chr 8:141,122,292...141,124,985
Ensembl chr 8:144,112,498...144,114,319
JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:970,380...986,368
Ensembl chr20:739,556...755,486
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 chr 8:141,122,292...141,124,985
Ensembl chr 8:144,112,498...144,114,319
JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO OMIM NCBI chr20:970,380...986,368
Ensembl chr20:739,556...755,486
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 chr 8:141,137,617...141,158,662
Ensembl chr 8:144,130,992...144,150,133
JBrowse link
G BOP1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 8:141,024,518...141,055,173
Ensembl chr 8:144,015,601...144,043,280
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 chr 8:141,158,494...141,176,354
Ensembl chr 8:144,148,075...144,166,043
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 chr 8:141,217,179...141,229,953 JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 8:141,079,948...141,090,619
Ensembl chr 8:144,064,587...144,080,155
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 chr 8:141,119,114...141,122,315 JBrowse link
G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 8:141,240,691...141,244,381
Ensembl chr 8:144,225,933...144,232,736
JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr2A:91,716,647...91,721,082
Ensembl chr 8:143,840,524...143,845,352
JBrowse link
G HGH1 HGH1 homolog ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 8:140,902,291...140,905,270 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 chr 8:141,055,310...141,078,360
Ensembl chr 8:144,062,137...144,067,866
JBrowse link
G KIFC2 kinesin family member C2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 8:141,232,942...141,241,181
Ensembl chr 8:144,222,468...144,228,947
JBrowse link
G LOC100995886 cytochrome c1, heme protein, mitochondrial ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 8:140,861,432...140,863,900
Ensembl chr 8:143,853,354...143,855,847
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 chr 8:140,870,815...140,873,947 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 chr 8:140,912,479...141,024,345
Ensembl chr 8:143,920,577...144,017,616
JBrowse link
G PARP10 poly(ADP-ribose) polymerase family member 10 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 8:140,743,061...140,744,014
Ensembl chr 8:143,735,819...143,744,138
JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 8:140,681,252...140,742,753
Ensembl chr 8:143,674,696...143,712,433
JBrowse link
G SCRT1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 8:141,094,285...141,100,298 JBrowse link
G SCX scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 8:141,027,765...141,031,194 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 chr 8:140,865,009...140,870,580
Ensembl chr 8:143,854,902...143,862,888
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 chr 8:141,178,792...141,183,565
Ensembl chr 8:144,169,089...144,173,517
JBrowse link
G SLC52A2 solute carrier family 52 member 2 ISO OMIM NCBI chr 8:141,122,292...141,124,985
Ensembl chr 8:144,112,498...144,114,319
JBrowse link
G SPATC1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 Ensembl chr 8:143,770,675...143,808,015 JBrowse link
G TMEM249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr 8:141,115,959...141,119,290
Ensembl chr 8:144,106,167...144,108,616
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 chr 8:141,195,959...141,211,849
Ensembl chr 8:144,185,674...144,201,040
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 chr 8:141,189,967...141,195,482
Ensembl chr 8:144,180,081...144,185,175
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 chr18:73,757,926...73,789,771
Ensembl chr18:77,080,441...77,103,098
JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:72,468,421...72,847,314
Ensembl chr18:75,686,430...75,988,106
JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,279,510...73,357,718
Ensembl chr18:76,646,641...76,722,573
JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:70,643,718...70,664,068
Ensembl chr18:73,899,995...73,917,752
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 chr18:73,608,483...73,615,823 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 chr18:73,431,735...73,546,602 JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:70,369,882...70,526,693 JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:72,948,067...73,083,180
Ensembl chr18:76,017,454...76,094,453
JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,806,710...73,904,494
Ensembl chr18:77,122,483...77,167,659
JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,679,972...73,696,321
Ensembl chr18:76,997,888...77,013,864
JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:72,381,249...72,403,789 JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,549,273...73,596,658 JBrowse link
G TXNL4A thioredoxin like 4A ISO OMIM NCBI chr18:73,618,302...73,679,603
Ensembl chr18:76,937,460...76,952,428
JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:70,213,383...70,361,741
Ensembl chr18:73,496,761...73,617,956
JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:69,748,472...69,891,026
Ensembl chr18:73,026,076...73,103,609
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 4:1,933,172...1,948,742 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 chr19:38,854,243...38,882,034 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 chr 1:195,666,995...195,720,661
Ensembl chr 1:200,703,711...200,757,648
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 1:18,176,791...18,210,280
Ensembl chr 1:19,223,355...19,257,835
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 chr 1:123,070,751...123,114,327
Ensembl chr 1:112,417,138...112,459,176
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 1:26,794,800...26,864,669 JBrowse link
G AMOT angiomotin ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr  X:101,907,032...101,973,052
Ensembl chr  X:112,362,633...112,428,216
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 1:16,486,514...16,644,724
Ensembl chr 1:17,580,389...17,697,195
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 chr 3:110,888,504...110,951,750
Ensembl chr 3:117,808,963...117,872,349
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 1:143,424,700...143,563,049
Ensembl chr 1:147,162,680...147,289,629
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 chr17:7,219,911...7,247,509
Ensembl chr17:7,207,483...7,235,985
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 5:156,678,750...156,937,614
Ensembl chr 5:163,374,346...163,632,301
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 chr16:47,634,636...47,671,934
Ensembl chr16:67,023,847...67,061,230
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 chr2B:84,076,945...84,166,385
Ensembl chr2B:201,983,321...202,064,467
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 1:7,111,594...7,576,667
Ensembl chr 1:8,351,367...8,648,973
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 9:4,323,124...4,420,193
Ensembl chr 9:4,511,491...4,608,337
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 chr10:64,957,350...65,010,339
Ensembl chr10:67,506,006...67,549,308
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 chr12:62,361,631...62,780,805
Ensembl chr12:64,971,818...65,388,694
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 9:4,373,755...4,500,502
Ensembl chr 9:4,625,140...4,686,478
JBrowse link
G UFSP2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 4:177,562,642...177,589,312
Ensembl chr 4:189,779,242...189,805,572
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 chr 1:137,910,547...137,942,445
Ensembl chr 1:141,707,926...141,733,195
JBrowse link
G ZFP30 ZFP30 zinc finger protein ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr19:34,573,298...34,599,117
Ensembl chr19:42,170,622...42,212,609
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 chr17:36,389,549...36,425,161
Ensembl chr17:41,038,302...41,073,872
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 chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273
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:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Cowchock syndrome
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA
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:119,298,428...119,311,625
Ensembl chr  X:129,591,222...129,605,214
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:96,720,988...96,743,594
Ensembl chr  X:107,094,898...107,117,117
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 chr13:58,166,872...58,176,146
Ensembl chr13:77,211,430...77,222,201
JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,144,708...33,166,033
Ensembl chr13:51,888,738...51,905,894
JBrowse link
G ARL11 ADP ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,767,431...30,770,962
Ensembl chr13:49,518,030...49,518,620
JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839
JBrowse link
G BORA BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,956,913...53,985,355
Ensembl chr13:72,733,006...72,761,432
JBrowse link
G C13H13orf42 chromosome 13 C13orf42 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,216,898...32,247,120 JBrowse link
G CAB39L calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,446,643...30,584,608
Ensembl chr13:49,198,143...49,288,816
JBrowse link
G CCDC70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,991,931...32,997,329
Ensembl chr13:51,741,930...51,742,631
JBrowse link
G CDADC1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,386,671...30,432,112
Ensembl chr13:49,138,498...49,186,541
JBrowse link
G CKAP2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,371,744...33,393,483
Ensembl chr13:52,378,278...52,399,608
JBrowse link
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,207,542...58,220,697
Ensembl chr13:77,253,203...77,263,759
JBrowse link
G CNMD chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,737,029...33,776,588
Ensembl chr13:52,547,943...52,584,720
JBrowse link
G COMMD6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:56,752,787...56,764,664 JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,796,598...29,853,676
Ensembl chr13:48,551,757...48,552,797
JBrowse link
G DACH1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,666,569...53,098,257 JBrowse link
G DHRS12 dehydrogenase/reductase 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,897,182...32,932,715
Ensembl chr13:51,642,208...51,672,203
JBrowse link
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:40,846,270...41,335,920
Ensembl chr13:59,676,307...60,056,672
JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,982,914...54,011,076
Ensembl chr13:72,760,610...72,787,325
JBrowse link
G DLEU7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:31,834,182...31,982,703
Ensembl chr13:50,706,111...50,726,445
JBrowse link
G EBPL EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,799,832...30,830,670
Ensembl chr13:49,548,230...49,578,820
JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,112,349...59,136,615
Ensembl chr13:78,153,020...78,177,286
JBrowse link
G FAM124A family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,356,260...32,418,132
Ensembl chr13:51,101,704...51,163,916
JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,219,260...58,244,780
Ensembl chr13:77,266,496...77,283,651
JBrowse link
G FNDC3A fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,119,740...30,347,544
Ensembl chr13:48,820,018...49,049,274
JBrowse link
G HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1 like 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,653,693...33,680,196
Ensembl chr13:52,487,132...52,488,093
JBrowse link
G INTS6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,487,169...32,583,415
Ensembl chr13:51,242,452...51,327,882
JBrowse link
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,383,318...29,412,018 JBrowse link
G KCNRG potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:31,154,531...31,161,081
Ensembl chr13:49,901,696...49,908,169
JBrowse link
G KCTD12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,097,764...58,104,972 JBrowse link
G KLF12 Kruppel like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:54,916,443...55,535,131
Ensembl chr13:73,697,912...73,996,956
JBrowse link
G KLF5 Kruppel like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:54,287,578...54,310,216 JBrowse link
G KLHL1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,906,581...51,335,692
Ensembl chr13:69,691,537...70,118,448
JBrowse link
G KPNA3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,838,320...30,931,608
Ensembl chr13:49,586,544...49,679,906
JBrowse link
G LMO7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:56,846,724...57,084,178
Ensembl chr13:75,894,529...76,130,080
JBrowse link
G LOC100982148 LMO7 downstream neighbor protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,096,039...57,109,497 JBrowse link
G LOC100992351 putative UPF0607 protein ENSP00000383144 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,877,777...58,879,200 JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,561,219...29,567,414
Ensembl chr13:48,263,254...48,264,291
JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,227,620...29,247,082
Ensembl chr13:47,929,918...47,948,836
JBrowse link
G MLNR motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,358,092...30,362,419
Ensembl chr13:49,109,918...49,111,850
JBrowse link
G MYCBP2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,262,251...58,544,819
Ensembl chr13:77,306,509...77,586,843
JBrowse link
G MZT1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,937,689...53,956,954 JBrowse link
G NDFIP2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,717,590...60,792,373
Ensembl chr13:79,745,362...79,820,286
JBrowse link
G NEK3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,261,186...33,288,316
Ensembl chr13:52,003,518...52,030,212
JBrowse link
G NEK5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,166,069...33,260,990
Ensembl chr13:51,938,342...51,998,357
JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,189,459...29,198,825
Ensembl chr13:47,891,557...47,900,971
JBrowse link
G OBI1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,840,406...59,884,765
Ensembl chr13:78,874,466...78,918,446
JBrowse link
G OLFM4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:34,066,155...34,089,468
Ensembl chr13:52,873,289...52,896,827
JBrowse link
G PCDH17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:38,801,514...38,900,811
Ensembl chr13:57,532,850...57,631,725
JBrowse link
G PCDH20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:42,582,806...42,588,890 JBrowse link
G PCDH8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,880,543...33,886,243
Ensembl chr13:52,688,522...52,692,399
JBrowse link
G PCDH9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,512,960...48,430,521
Ensembl chr13:66,310,212...67,222,134
JBrowse link
G PHF11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,636,035...30,670,262
Ensembl chr13:49,386,374...49,419,310
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:54,011,239...54,247,952
Ensembl chr13:72,788,608...73,022,473
JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,821,614...59,829,671 JBrowse link
G PRR20E proline rich 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:38,340,469...38,342,105 JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
JBrowse link
G RBM26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,547,197...60,642,551
Ensembl chr13:79,585,632...79,670,999
JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,673,230...30,727,480
Ensembl chr13:49,422,283...49,475,857
JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,631,741...29,675,959
Ensembl chr13:48,332,860...48,377,336
JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,047,830...32,108,573
Ensembl chr13:50,795,701...50,852,909
JBrowse link
G SCEL sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,772,893...58,861,813
Ensembl chr13:77,795,230...77,904,016
JBrowse link
G SERPINE3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,475,429...32,496,700
Ensembl chr13:51,220,735...51,241,791
JBrowse link
G SETDB2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,584,762...30,635,408
Ensembl chr13:49,335,894...49,386,150
JBrowse link
G SLAIN1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,914,327...58,981,193 JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:65,081,844...65,087,135
Ensembl chr13:84,253,287...84,256,069
JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,990,025...67,003,900
Ensembl chr13:86,161,905...86,164,430
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,569,658...61,574,817
Ensembl chr13:80,596,346...80,597,408
JBrowse link
G SPRYD7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:31,053,278...31,076,746
Ensembl chr13:49,801,309...49,824,463
JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,095,062...29,189,618
Ensembl chr13:47,797,472...47,856,138
JBrowse link
G SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,688,941...33,724,687
Ensembl chr13:52,497,557...52,532,434
JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:56,513,065...56,706,491
Ensembl chr13:75,282,441...75,361,729
JBrowse link
G TDRD3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:41,568,080...41,750,288
Ensembl chr13:60,290,518...60,470,245
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504
JBrowse link
G TMEM272 transmembrane protein 272 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,940,896...33,065,397 JBrowse link
G TRIM13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:31,137,236...31,153,398
Ensembl chr13:49,889,041...49,900,488
JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:56,776,436...56,832,539
Ensembl chr13:75,549,647...75,878,673
JBrowse link
G UTP14C UTP14C small subunit processome component ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,144,810...33,166,033
Ensembl chr13:51,905,055...51,908,218
JBrowse link
G VPS36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,398,165...33,436,615
Ensembl chr13:52,336,484...52,372,851
JBrowse link
G WDFY2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,714,088...32,896,885
Ensembl chr13:51,535,071...51,636,052
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 1:111,309,680...111,340,851
Ensembl chr 1:110,473,752...110,505,613
JBrowse link
G GPSM2 G protein signaling modulator 2 ISO OMIM NCBI chr 1:111,253,158...111,309,619 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 chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
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 chr 1:137,178,629...137,382,256
Ensembl chr 1:140,977,750...141,176,725
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 chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
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:11,047,357...11,261,172
Ensembl chr  X:18,492,329...18,638,735
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 chr2A:100,911,053...100,962,278
Ensembl chr2A:99,259,808...99,308,517
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:mutations
CTD
RGD
PMID:10958649, PMID:30418171 RGD:1600870 NCBI chr 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:12077706 RGD:1599034 NCBI chr 1:111,980,855...111,990,686
Ensembl chr 1:111,208,510...111,225,808
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 chr15:50,759,707...50,767,703
Ensembl chr15:69,525,351...69,533,034
JBrowse link
G PDE6H phosphodiesterase 6H ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chr12:14,890,192...14,984,542
Ensembl chr12:15,372,413...15,381,249
JBrowse link
G RDH5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:30311386, PMID:30718709 NCBI chr12:33,186,871...33,191,539
Ensembl chr12:33,911,309...33,920,506
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:39,274,103...39,319,832
Ensembl chr  X:47,133,639...47,178,608
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:11,259,222...11,282,289
Ensembl chr  X:18,624,687...18,657,315
JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:28492532, PMID:30311386 NCBI chr14:56,216,214...56,513,718
Ensembl chr14:75,058,897...75,356,494
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 chr13:76,853,053...76,963,530
Ensembl chr13:96,033,605...96,114,165
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 1:64,501,805...64,662,999
Ensembl chr 1:66,399,968...66,550,879
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 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366
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 chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G CRB1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Conductive hearing loss ClinVar PMID:30311386 NCBI chr 1:172,794,523...173,076,045
Ensembl chr 1:177,174,431...177,422,867
JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10471511 NCBI chr 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829
JBrowse link
G NOG noggin ISO RGD PMID:18096605 RGD:12801451 NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092
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 9:46,576,161...46,612,342
Ensembl chr 9:77,086,877...77,121,459
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 chr20:31,782,894...31,847,152
Ensembl chr20:32,903,536...32,959,714
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 chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
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 chr 3:152,882,563...152,910,434
Ensembl chr 3:160,933,258...160,961,723
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 chr11:64,905,658...64,915,175
Ensembl chr11:68,197,962...68,207,042
JBrowse link
Congenital Myopathy with Neuropathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTBN4 spectrin beta, non-erythrocytic 4 ISO OMIM NCBI chr19:37,515,420...37,621,473
Ensembl chr19:46,042,387...46,127,429
JBrowse link
congenital stationary night 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: Congenital stationary night blindness ClinVar PMID:12515255, PMID:28041643 NCBI chr 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589
JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar PMID:28492532 NCBI chr11:62,813,477...62,820,425
Ensembl chr11:66,121,992...66,128,758
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds: c.2941C>T (rat)
RGD
ClinVar
CTD
PMID:9662399, PMID:9662400, PMID:12111638, PMID:18246026, PMID:25307992, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709, PMID:30825406 RGD:13782370, RGD:734671 NCBI chr  X:41,504,804...41,533,501
Ensembl chr  X:49,356,994...49,385,678