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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.


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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 chrNW_004936485:16,559,371...16,571,461 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 chrNW_004936489:9,911,484...9,983,826 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 chrNW_004936547:1,645,118...1,654,332 JBrowse link
achromatopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chrNW_004937131:170,649...183,942 JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:28492532 PMID:29525873 More... NCBI chrNW_004936599:2,295,124...2,299,558 JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 PMID:16961972 More... NCBI chrNW_004936744:1,499,431...1,537,784 JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967 PMID:1572225 PMID:10888875 PMID:10958649 PMID:11124331 More... NCBI chrNW_004936544:1,166,896...1,305,339 JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chrNW_004936704:1,079,255...1,093,732 JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 More... NCBI chrNW_004936601:1,343,538...1,393,605 JBrowse link
Achromatopsia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human) RGD PMID:18521937 RGD:9068452 NCBI chrNW_004936744:1,499,431...1,537,784 JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 treatment ISO DNA:deletion: :c.1148delC (human) RGD PMID:17265047 PMID:21576125 RGD:9068446 RGD:9068450 NCBI chrNW_004936544:1,166,896...1,305,339 JBrowse link
achromatopsia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO OMIM NCBI chrNW_004936744:1,499,431...1,537,784 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 chrNW_004936544:1,166,896...1,305,339 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 chrNW_004936704:1,079,255...1,093,732 JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:19615668 PMID:19887631 PMID:21127010 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936601:1,343,538...1,393,605 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 chrNW_004937131:170,649...183,942 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 chrNW_004936551:5,167,909...5,175,149 JBrowse link
G Ppp1r15a protein phosphatase 1 regulatory subunit 15A ISO mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chrNW_004936664:2,910,609...2,914,205 JBrowse link
amblyopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppargc1a PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chrNW_004936477:4,881,230...5,488,208 JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868 NCBI chrNW_004936534:2,481,804...2,518,573 JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20803644 More... NCBI chrNW_004936594:744,531...753,350 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 NCBI chrNW_004936629:3,570,163...3,589,324 JBrowse link
Anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chrNW_004936492:3,186,930...3,196,738 JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:8723126 PMID:28067909 NCBI chrNW_004936672:1,686,070...1,838,315 JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chrNW_004936492:3,173,770...3,183,423 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 chrNW_004936563:1,713,294...1,732,431 JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO OMIM NCBI chrNW_004936499:7,114,838...7,136,468 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 chrNW_004936478:3,721,662...3,724,471 JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome ClinVar NCBI chrNW_004936478:3,729,079...3,731,353 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 chrNW_004936594:215,165...223,715 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 chrNW_004936705:1,381,025...1,833,890 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 chrNW_004936659:520,181...565,496 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 chrNW_004936555:4,285,269...4,307,715 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 LOC101955952 dentin sialophosphoprotein ISO OMIM NCBI chrNW_004936905:458,062...463,359 JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:23967202 PMID:24033266 More... NCBI chrNW_004936889:121,724...184,374 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 chrNW_004936720:1,528,205...1,530,296 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 chrNW_004936602:2,744,757...3,011,051 JBrowse link
G Diablo diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chrNW_004936558:2,260,459...2,268,941 JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chrNW_004936550:1,110,679...1,240,463 JBrowse link
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chrNW_004936478:7,900,432...8,499,300 JBrowse link
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment
ClinVar PMID:30872814 PMID:31397523 NCBI chrNW_004936540:4,205,871...4,323,121 JBrowse link
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankhd1 ankyrin repeat and KH domain containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,385,958...9,509,406 JBrowse link
G Apbb3 amyloid beta precursor protein binding family B member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,525,879...9,531,943 JBrowse link
G Brd8 bromodomain containing 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,333,974...7,361,855 JBrowse link
G Cd14 CD14 molecule ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,572,392...9,575,771 JBrowse link
G Cdc23 cell division cycle 23 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,371,818...7,392,999 JBrowse link
G Cdc25c cell division cycle 25C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,471,722...7,499,781 JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,865,907...8,036,020 JBrowse link
G Cxxc5 CXXC finger protein 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:8,707,201...8,739,647 JBrowse link
G Diaph1 diaphanous related formin 1 ISO OMIM NCBI chrNW_004936504:12,548,452...12,645,236 JBrowse link
G Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:8,498,714...8,526,803 JBrowse link
G Dnd1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,607,678...9,610,245 JBrowse link
G Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:8,533,926...8,542,516 JBrowse link
G Egr1 early growth response 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,625,956...7,629,041 JBrowse link
G Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,512,252...9,518,044 JBrowse link
G Etf1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,665,246...7,693,563 JBrowse link
G Fam13b family with sequence similarity 13 member B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,149,783...7,232,712 JBrowse link
G Gfra3 GDNF family receptor alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,443,842...7,457,518 JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,610,335...9,625,203 JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,625,206...9,633,463 JBrowse link
G Hbegf heparin binding EGF like growth factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,332,939...9,345,039 JBrowse link
G Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936597:4,712,201...4,714,949 JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,702,186...7,716,428 JBrowse link
G Ik IK cytokine ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,589,035...9,601,266 JBrowse link
G Kdm3b lysine demethylase 3B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,517,810...7,600,319 JBrowse link
G Kif20a kinesin family member 20A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,361,928...7,371,397 JBrowse link
G Klhl3 kelch like family member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936597:4,592,654...4,696,348 JBrowse link
G LOC101964548 protocadherin beta-14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936504:12,901,965...12,904,619 JBrowse link
G LOC101968618 protocadherin gamma-A12 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936504:12,711,899...12,720,086 JBrowse link
G LOC101971608 IgA inducing protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,139,225...9,144,234 JBrowse link
G LOC106144841 protocadherin gamma-A11 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936504:12,726,747...12,729,203 JBrowse link
G LOC106144855 protocadherin gamma-A10 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936504:12,734,147...12,737,697 JBrowse link
G Lrrtm2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,968,111...7,973,823 JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:8,385,919...8,418,753 JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936597:4,830,111...4,847,409 JBrowse link
G Mzb1 marginal zone B and B1 cell specific protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:8,474,721...8,477,479 JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,587,139...9,589,007 JBrowse link
G Nme5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,296,565...7,318,628 JBrowse link
G Nrg2 neuregulin 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:8,884,565...9,064,541 JBrowse link
G Paip2 poly(A) binding protein interacting protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:8,431,950...8,453,980 JBrowse link
G Pcdhb1 protocadherin beta 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936504:13,116,849...13,119,458 JBrowse link
G Pcdhb2 protocadherin beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936504:13,076,176...13,078,824 JBrowse link
G Pcdhb3 protocadherin beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936504:13,069,623...13,073,050 JBrowse link
G Pcdhb7 protocadherin beta 7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936504:12,934,327...12,937,809 JBrowse link
G Pcdhgb7 protocadherin gamma subfamily B, 7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936504:12,730,101...12,732,587 JBrowse link
G Pfdn1 prefoldin subunit 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,252,195...9,311,531 JBrowse link
G Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,115,718...7,152,010 JBrowse link
G Prob1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:8,477,562...8,483,159 JBrowse link
G Psd2 pleckstrin and Sec7 domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:8,835,486...8,879,862 JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,129,024...9,134,916 JBrowse link
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,601,869...7,608,658 JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:8,062,441...8,320,287 JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:8,457,779...8,471,244 JBrowse link
G Slc35a4 solute carrier family 35 member A4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Slc4a9 solute carrier family 4 member 9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,354,954...9,368,603 JBrowse link
G Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:8,484,192...8,490,205 JBrowse link
G Spock1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936597:4,000,433...4,493,920 JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,518,719...9,525,195 JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:8,555,966...8,562,829 JBrowse link
G Taf7 TATA-box binding protein associated factor 7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936504:12,824,928...12,827,238 JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,579,316...9,587,057 JBrowse link
G Ube2d2 ubiquitin conjugating enzyme E2 D2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:8,668,954...8,686,305 JBrowse link
G Wdr55 WD repeat domain 55 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,603,391...9,607,598 JBrowse link
G Wnt8a Wnt family member 8A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:7,273,681...7,279,394 JBrowse link
G Zmat2 zinc finger matrin-type 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004936531:9,633,460...9,640,366 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 chrNW_004936560:1,325,521...1,466,216 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 chrNW_004936498:5,758,572...5,824,526 JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101975324 tubulin-specific chaperone cofactor E-like protein ISO OMIM NCBI chrNW_004936542:5,884,624...5,951,260 JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO OMIM NCBI chrNW_004936476:25,663,563...25,692,315 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 chrNW_004936504:8,348,460...8,351,246 JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 NCBI chrNW_004936471:6,760,289...6,777,425 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 chrNW_004936492:4,384,215...4,466,229 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 chrNW_004936594:5,170,711...5,173,251 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 chrNW_004936788:1,125,332...1,264,372 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 chrNW_004936495:4,839,496...4,842,906 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 chrNW_004936492:13,436,136...13,486,173 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 chrNW_004936482:19,018,454...19,040,438 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 chrNW_004936470:41,856,683...41,961,666 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 chrNW_004936474:22,444,359...22,496,097 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 chrNW_004936474:17,427,255...17,431,368 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 chrNW_004936864:709,693...732,119 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 chrNW_004936503:8,669,465...8,826,340 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 chrNW_004936730:466,912...680,823 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 chrNW_004936720:1,528,205...1,530,296 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 chrNW_004936720:1,485,895...1,494,673 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 chrNW_004936501:6,441,968...6,457,814 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 chrNW_004936660:2,570,627...2,574,081 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 chrNW_004936900:495,551...563,184 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 chrNW_004936646:1,238,630...1,258,491 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 chrNW_004936889:121,724...184,374 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 chrNW_004936706:1,390,737...1,396,472 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 chrNW_004936478:1,655,487...1,720,996 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 chrNW_004936503:5,414,330...5,539,895 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 chrNW_004936504:8,348,460...8,351,246 JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pappa pappalysin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chrNW_004936487:5,000,279...5,379,786 JBrowse link
G Tnc tenascin C ISO OMIM NCBI chrNW_004936487:4,172,263...4,256,780 JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chrNW_004936487:4,057,637...4,081,207 JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chrNW_004936477:18,339,915...18,364,973 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 chrNW_004936558:2,260,459...2,268,941 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 chrNW_004936694:1,556,717...1,582,019 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 chrNW_004936564:5,510,718...5,522,637 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 chrNW_004936483:17,500,962...17,634,804 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 chrNW_004936507:5,566,144...5,650,412 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 chrNW_004936481:19,863,487...19,984,299 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 chrNW_004936798:756,350...768,600 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 chrNW_004936471:13,330,870...13,483,610 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 chrNW_004936727:1,663,593...1,683,061 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 chrNW_004936698:1,372,604...1,569,905 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 chrNW_004936478:7,900,432...8,499,300 JBrowse link
autosomal dominant nonsyndromic deafness 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101957492 transformation/transcription domain associated protein ISO OMIM NCBI chrNW_004936750:1,245,926...1,360,226 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 chrNW_004936540:4,205,871...4,323,121 JBrowse link
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO OMIM NCBI chrNW_004936501:3,400,971...3,467,061 JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO OMIM NCBI chrNW_004936504:1,378,812...1,465,463 JBrowse link
autosomal dominant nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scd5 stearoyl-CoA desaturase 5 ISO OMIM NCBI chrNW_004936738:1,755,000...1,895,292 JBrowse link
Autosomal Dominant Nonsyndromic Deafness 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Greb1l GREB1 like retinoic acid receptor coactivator ISO OMIM NCBI chrNW_004936550:1,110,679...1,240,463 JBrowse link
Autosomal Dominant Nonsyndromic Deafness 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmod3 ELMO domain containing 3 ISO OMIM NCBI chrNW_004936712:1,805,141...1,827,086 JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO OMIM NCBI chrNW_004936494:5,617,201...5,633,500 JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chrNW_004936477:18,339,915...18,364,973 JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chrNW_004936522:6,329,981...6,338,825 JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:22981119 PMID:25741868 PMID:26445815 PMID:28492532 PMID:30303587 NCBI chrNW_004936599:2,246,139...2,250,963 JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:23023331 PMID:30303587 NCBI chrNW_004936471:36,859,018...36,879,170 JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004936474:3,591,134...3,601,562 JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:30303587 NCBI chrNW_004936500:6,207,856...6,227,582 JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chrNW_004936476:14,234,447...14,381,582 JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:28492532 More... NCBI chrNW_004936521:7,095,044...7,095,497 JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 NCBI chrNW_004936511:3,446,864...3,478,434 JBrowse link
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004936587:1,785,721...1,951,474 JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004936623:1,220,435...1,249,743 JBrowse link
G Esrrb estrogen related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:23967202 PMID:24033266 PMID:30303587 NCBI chrNW_004936488:5,350,133...5,452,366 JBrowse link
G Gipc3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004936588:2,034,576...2,038,274 JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 PMID:9139825 More... NCBI chrNW_004936720:1,528,205...1,530,296 JBrowse link
G Gjb3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chrNW_004936474:17,427,255...17,431,368 JBrowse link
G Gpsm2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 NCBI chrNW_004936704:462,984...516,929 JBrowse link
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20137778 PMID:30303587 NCBI chrNW_004936482:9,981,410...10,087,222 JBrowse link
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chrNW_004936504:8,775,832...8,789,254 JBrowse link
G Ildr1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:15641023 PMID:21255762 PMID:30303587 NCBI chrNW_004936536:8,351,394...8,383,857 JBrowse link
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:16459341 PMID:30303587 NCBI chrNW_004936476:23,479,939...23,491,611 JBrowse link
G LOC101969963 cadherin-23 ISO DNA:missense mutations:multiple
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
RGD
ClinVar
PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:15353998 More... RGD:8662281 NCBI chrNW_004936521:7,078,874...7,285,361 JBrowse link
G LOC101970726 TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004936492:3,337,791...3,390,420 JBrowse link
G LOC101975324 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004936542:5,884,624...5,951,260 JBrowse link
G LOC101976443 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chrNW_004936517:271,909...409,818 JBrowse link
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004936480:191,526...216,163 JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19650862 PMID:21185009 PMID:30303587 NCBI chrNW_004936545:3,480,995...3,637,913 JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chrNW_004936492:4,384,215...4,466,229 JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004936741:1,669,680...1,724,929 JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chrNW_004936498:5,758,572...5,824,526 JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:23173898 PMID:24033266 PMID:30303587 NCBI chrNW_004936501:7,383,963...7,456,470 JBrowse link
G Otof otoferlin ISO DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
RGD
ClinVar
PMID:14635104 PMID:17967520 PMID:19250381 PMID:24033266 PMID:27082237 More... RGD:9479154 NCBI chrNW_004936493:5,916,113...5,999,867 JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004936528:1,473,842...1,549,586 JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004936910:233,800...602,145 JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:30303587 PMID:32747562 NCBI chrNW_004936509:7,670,557...7,677,480 JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004936504:8,348,460...8,351,246 JBrowse link
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004936698:1,372,604...1,569,905 JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chrNW_004936479:16,435,779...16,483,139 JBrowse link
G Tmc1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:11850618 PMID:16134132 PMID:17877751 PMID:18414213 PMID:19187973 More... NCBI chrNW_004936503:8,669,465...8,826,340 JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chrNW_004936596:531,260...540,608 JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:11137999 PMID:24033266 PMID:30303587 PMID:30311386 NCBI chrNW_004936500:1,480,688...1,501,735 JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20170899 PMID:30303587 NCBI chrNW_004936669:786,569...794,713 JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chrNW_004936528:1,552,175...1,594,740 JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:30303587 NCBI chrNW_004936594:258,115...262,739 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:28492532 More... NCBI chrNW_004936628:2,123,917...2,859,958 JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004936487:3,668,465...3,748,234 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 chrNW_004936523:1,321,755...1,418,267 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 chrNW_004936504:8,775,832...8,789,254 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 chrNW_004936587:1,785,721...1,951,474 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 chrNW_004936476:14,234,447...14,381,582 JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripor2 RHO family interacting cell polarization regulator 2 ISO OMIM NCBI chrNW_004936671:1,064,937...1,232,985 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 chrNW_004936587:1,785,721...1,951,474 JBrowse link
G Eps8l2 EPS8 like 2 ISO OMIM NCBI chrNW_004936888:506,144...523,280 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 chrNW_004936594:1,023,085...1,031,571 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 chrNW_004936692:1,327,779...1,702,350 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 chrNW_004936544:7,633,266...7,690,624 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 chrNW_004936494:5,617,201...5,633,500 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 chrNW_004936542:3,332,822...3,344,663 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 chrNW_004936549:4,842,004...4,943,399 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 chrNW_004936706:1,390,737...1,396,472 JBrowse link
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971396 GRB2 related adaptor protein ISO OMIM NCBI chrNW_004936881:580,713...607,553 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 chrNW_004936677:1,058,601...1,093,233 JBrowse link
autosomal recessive nonsyndromic deafness 116 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn9 claudin 9 ISO OMIM NCBI chrNW_004936694:1,155,252...1,156,007 JBrowse link
Autosomal Recessive Nonsyndromic Deafness 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn2 clarin 2 ISO OMIM NCBI chrNW_004936477:10,674,996...10,683,851 JBrowse link
Autosomal Recessive Nonsyndromic Deafness 119 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata5l1 spermatogenesis associated 5 like 1 ISO OMIM NCBI chrNW_004936471:8,064,708...8,078,968 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 chrNW_004936602:2,744,757...3,011,051 JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chrNW_004936521:7,095,044...7,095,497 JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar NCBI chrNW_004936720:1,528,205...1,530,296 JBrowse link
G LOC101969963 cadherin-23 ISO OMIM NCBI chrNW_004936521:7,078,874...7,285,361 JBrowse link
G LOC101976627 prosaposin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 NCBI chrNW_004936521:6,975,844...7,009,460 JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gipc3 GIPC PDZ domain containing family member 3 ISO OMIM NCBI chrNW_004936588:2,034,576...2,038,274 JBrowse link
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 NCBI chrNW_004936471:6,791,490...6,809,048 JBrowse link
G Ckmt1a creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chrNW_004936471:6,754,514...6,760,025 JBrowse link
G Strc stereocilin ISO OMIM NCBI chrNW_004936471:6,760,289...6,777,425 JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 More... NCBI chrNW_004936528:1,552,175...1,594,740 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 chrNW_004936528:1,552,175...1,594,740 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 chrNW_004936528:1,473,842...1,549,586 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, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar PMID:15994881 PMID:17041943 PMID:18324688 PMID:20236118 PMID:28492532 NCBI chrNW_004936720:1,201,725...1,334,483 JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004936720:954,450...998,483 JBrowse link
G Gja3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004936720:1,564,680...1,586,379 JBrowse link
G Gjb2 gap junction protein beta 2 ISO OMIM NCBI chrNW_004936720:1,528,205...1,530,296 JBrowse link
G Gjb3 gap junction protein beta 3 ISO OMIM NCBI chrNW_004936474:17,427,255...17,431,368 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 chrNW_004936474:17,407,209...17,409,657 JBrowse link
G Gjb6 gap junction protein beta 6 ISO OMIM NCBI chrNW_004936720:1,485,895...1,494,673 JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004936720:1,041,216...1,168,725 JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004936720:1,005,111...1,029,613 JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004936720:836,145...948,460 JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 PMID:9285800 More... NCBI chrNW_004936720:1,528,205...1,530,296 JBrowse link
G Gjb6 gap junction protein beta 6 ISO OMIM NCBI chrNW_004936720:1,485,895...1,494,673 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 chrNW_004936498:5,758,572...5,824,526 JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 ClinVar NCBI chrNW_004936551:6,173,588...6,282,971 JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101975324 tubulin-specific chaperone cofactor E-like protein ISO OMIM NCBI chrNW_004936542:5,884,624...5,951,260 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 chrNW_004936501:7,383,963...7,456,470 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 chrNW_004936910:233,800...602,145 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 chrNW_004936612:3,992,542...4,060,598 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 chrNW_004936482:9,981,410...10,087,222 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 chrNW_004936535:4,934,743...5,048,698 JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101970726 TRIO and F-actin binding protein ISO OMIM NCBI chrNW_004936492:3,337,791...3,390,420 JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:25741868 PMID:32109419 NCBI chrNW_004936665:1,821,580...2,029,839 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 chrNW_004936500:6,207,856...6,227,582 JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15a myosin XVA ISO OMIM NCBI chrNW_004936741:1,669,680...1,724,929 JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 ClinVar NCBI chrNW_004936551:6,173,588...6,282,971 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 chrNW_004936484:1,509,248...1,723,717 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 chrNW_004936487:3,668,465...3,748,234 JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101972535 dual specificity protein phosphatase CDC14A ISO OMIM NCBI chrNW_004936748:479,026...612,554 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 chrNW_004936488:5,350,133...5,452,366 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 chrNW_004936623:1,220,435...1,249,743 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 chrNW_004936788:1,125,332...1,264,372 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 chrNW_004936734:354,798...428,356 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 chrNW_004936609:4,667,425...4,694,259 JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO OMIM NCBI chrNW_004936740:555,948...589,219 JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO OMIM NCBI chrNW_004936479:16,435,779...16,483,139 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 chrNW_004936536:8,351,394...8,383,857 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 chrNW_004936478:20,310,509...20,477,506 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 chrNW_004936471:36,859,018...36,879,170 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 chrNW_004936480:191,526...216,163 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 chrNW_004936476:25,663,563...25,692,315 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 chrNW_004936600:4,660,211...4,678,911 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 chrNW_004936509:7,670,557...7,677,480 JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chrNW_004936509:7,653,192...7,668,925 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 chrNW_004936596:531,260...540,608 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 chrNW_004936479:20,104,625...20,145,392 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 chrNW_004936498:1,460,795...1,468,363 JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chrNW_004936498:1,358,598...1,438,041 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 chrNW_004936671:605,114...736,217 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 chrNW_004936476:23,479,939...23,491,611 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 chrNW_004936659:579,771...587,077 JBrowse link
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 ClinVar NCBI chrNW_004936481:9,496,083...9,516,086 JBrowse link
G Tmc1 transmembrane channel like 1 ISO OMIM NCBI chrNW_004936503:8,669,465...8,826,340 JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 ClinVar PMID:18616530 PMID:19187973 PMID:21917145 NCBI chrNW_004936551:6,173,588...6,282,971 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 chrNW_004936491:1,989,429...2,032,430 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 chrNW_004936545:3,480,995...3,637,913 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 chrNW_004936922:40,640...44,414 JBrowse link
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101976443 lipoxygenase homology PLAT domains 1 ISO OMIM NCBI chrNW_004936517:271,909...409,818 JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 77 ClinVar PMID:21465660 NCBI chrNW_004936551:6,173,588...6,282,971 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 chrNW_004936669:786,569...794,713 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 chrNW_004936500:1,480,688...1,501,735 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 chrNW_004936698:1,372,604...1,569,905 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 chrNW_004936698:1,173,266...1,295,785 JBrowse link
autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chrNW_004936694:1,596,897...1,620,588 JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO OMIM NCBI chrNW_004936694:1,556,717...1,582,019 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 chrNW_004936712:1,805,141...1,827,086 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 chrNW_004936475:24,294,699...24,312,051 JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:24218524 PMID:25326637 PMID:26467025 NCBI chrNW_004936526:3,648,447...3,684,230 JBrowse link
G Igsf6 immunoglobulin superfamily member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chrNW_004936501:7,359,380...7,373,269 JBrowse link
G Mettl9 methyltransferase like 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chrNW_004936501:7,335,124...7,373,978 JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chrNW_004936501:7,383,963...7,456,470 JBrowse link
G Otof otoferlin ISO OMIM NCBI chrNW_004936493:5,916,113...5,999,867 JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:27082237 NCBI chrNW_004936741:1,332,353...1,408,116 JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:18381613 NCBI chrNW_004936551:6,173,588...6,282,971 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 chrNW_004936599:2,246,139...2,250,963 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 chrNW_004936498:6,967,277...7,108,130 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 chrNW_004936589:2,280,803...2,390,179 JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101966782 keratin-associated protein 10-12 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:25741868 NCBI chrNW_004936778:1,582,160...1,583,314 JBrowse link
G Tspear thrombospondin type laminin G domain and EAR repeats ISO OMIM NCBI chrNW_004936778:1,576,580...1,660,344 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 chrNW_004936538:524,880...575,849 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 chrNW_004936474:11,460,266...11,517,420 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 chrNW_004936720:1,528,205...1,530,296 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 chrNW_004936522:6,329,981...6,338,825 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 chrNW_004936474:3,591,134...3,601,562 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 chrNW_004936711:1,027,531...1,113,796 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 chrNW_004936484:1,509,248...1,723,717 JBrowse link
G Nefh neurofilament heavy chain disease_progression ISO RGD PMID:27457532 RGD:27372873 NCBI chrNW_004936657:3,443,406...3,453,096 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 chrNW_004936479:16,435,779...16,483,139 JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101961358 mitochondrial chaperone BCS1 ISO OMIM NCBI chrNW_004936569:1,104,493...1,108,708 JBrowse link
blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Legal blindness ClinVar PMID:9973280 PMID:10958761 PMID:24938718 PMID:25312043 PMID:25741868 More... NCBI chrNW_004936537:4,969,456...5,326,682 JBrowse link
G Aipl1 aryl hydrocarbon receptor interacting protein like 1 susceptibility ISO RGD PMID:10873396 RGD:1599003 NCBI chrNW_004936677:1,539,502...1,548,343 JBrowse link
G Aqp4 aquaporin 4 ISO associated with Multiple Sclerosis, Relapsing-Remitting; RGD PMID:17702782 RGD:8696024 NCBI chrNW_004936550:5,931,201...5,943,999 JBrowse link
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25558065 PMID:27270415 NCBI chrNW_004936484:19,551,293...19,562,132 JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15114530 NCBI chrNW_004936586:1,782,581...1,809,458 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:20683928 PMID:20690115 More... NCBI chrNW_004936507:5,223,756...5,305,392 JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chrNW_004936491:2,159,654...2,214,480 JBrowse link
G Lca5 lebercilin LCA5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546029 NCBI chrNW_004936510:10,652,378...10,702,761 JBrowse link
G Myo15a myosin XVA induces ISO DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat)
compared to LEW/Ztm
RGD PMID:21479269 RGD:150429616 NCBI chrNW_004936741:1,669,680...1,724,929 JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16150724 PMID:16226919 NCBI chrNW_004936591:3,347,346...3,368,062 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Legal blindness ClinVar PMID:15015129 PMID:15043528 PMID:15241801 PMID:15325563 PMID:16963483 More... NCBI chrNW_004936628:2,123,917...2,859,958 JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:23093773 RGD:11075234 NCBI chrNW_004936476:16,245,134...16,261,180 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 chrNW_004936488:3,487,718...3,507,802 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 chrNW_004936479:15,696,063...15,702,311 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 chrNW_004936470:7,886,169...7,888,592 JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936485:17,771,797...17,777,637 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 chrNW_004936470:7,886,169...7,888,592 JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO OMIM NCBI chrNW_004936485:17,771,797...17,777,637 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 chrNW_004936470:7,857,284...7,870,180 JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,950,952...7,977,186 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 chrNW_004936470:7,848,846...7,857,291 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 chrNW_004936470:7,799,304...7,813,420 JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,916,438...7,926,089 JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,097,218...8,099,319 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 chrNW_004936470:7,888,676...7,891,796 JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,789,486...7,791,067 JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,092,758...8,096,277 JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,180,468...8,183,694 JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,058,775...8,061,025 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 chrNW_004936470:7,927,734...7,950,805 JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,791,137...7,800,221 JBrowse link
G LOC101954680 cytochrome c1, heme protein, mitochondrial ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,082,791...8,085,197 JBrowse link
G LOC101957084 plectin ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,194,124...8,252,139 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 chrNW_004936470:8,073,228...8,076,338 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 chrNW_004936470:7,977,338...8,049,414 JBrowse link
G Oplah 5-oxoprolinase, ATP-hydrolysing ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,126,677...8,139,556 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 chrNW_004936470:7,907,294...7,913,136 JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,966,096...7,972,379 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 chrNW_004936470:8,076,605...8,081,872 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 chrNW_004936470:7,836,612...7,842,262 JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO OMIM NCBI chrNW_004936470:7,886,169...7,888,592 JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,144,660...8,165,407 JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,892,463...7,893,914 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 chrNW_004936470:7,817,444...7,829,124 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 chrNW_004936470:7,829,207...7,833,213 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 chrNW_004936616:124,590...145,944 JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004936616:604,132...846,645 JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004936616:369,306...407,083 JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004936616:2,007,339...2,020,737 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 chrNW_004936616:244,940...249,941 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 chrNW_004936616:294,466...338,332 JBrowse link
G LOC101958597 myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004936616:2,082,154...2,159,028 JBrowse link
G Nfatc1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004936616:484,062...584,950 JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004936616:50,504...115,679 JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004936616:185,616...201,405 JBrowse link
G Sall3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004936616:903,220...922,635 JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004936616:265,609...292,430 JBrowse link
G Txnl4a thioredoxin like 4A ISO OMIM NCBI chrNW_004936616:220,255...232,042 JBrowse link
G Znf236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004936616:2,163,000...2,251,306 JBrowse link
G Znf516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004936616:2,451,952...2,553,843 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 chrNW_004936477:21,591,772...21,606,289 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 chrNW_004936706:476,473...494,659 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 chrNW_004936650:2,056,921...2,112,487 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 chrNW_004936474:5,512,100...5,539,198 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 chrNW_004936867:171,808...189,266 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 chrNW_004936474:11,824,692...11,846,355 JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004936499:2,594,190...2,661,307 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 chrNW_004936474:4,364,244...4,448,975 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 chrNW_004936536:1,257,801...1,314,770 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 chrNW_004936481:18,133,115...18,228,122 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 chrNW_004936595:487,918...513,843 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 chrNW_004936515:2,127,107...2,359,697 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 chrNW_004936475:17,746,121...17,776,537 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 chrNW_004936506:2,224,598...2,297,022 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 chrNW_004936623:2,678,627...2,942,387 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 chrNW_004936503:613,250...690,555 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 chrNW_004936521:9,793,088...9,834,972 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 chrNW_004936548:3,213,305...3,599,876 JBrowse link
G Spata6l spermatogenesis associated 6 like ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004936503:555,168...600,347 JBrowse link
G Ufsp2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004936554:3,926,046...3,945,575 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 chrNW_004936831:680,929...701,804 JBrowse link
G Zfp30 ZFP30 zinc finger protein ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004936801:542,165...559,235 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 Gjb1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers ClinVar PMID:12402337 PMID:15241803 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936762:389,655...398,035 JBrowse link
G Pmp22 peripheral myelin protein 22 ISO OMIM NCBI chrNW_004936724:1,747,015...1,780,298 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 chrNW_004936903:583,942...589,160 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 chrNW_004936479:1,441,508...1,477,133 JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Cowchock syndrome ClinVar PMID:3856385 PMID:20362274 PMID:20818383 PMID:22019070 PMID:23217327 More... NCBI chrNW_004936479:1,425,765...1,437,338 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 chrNW_004936499:7,114,838...7,136,468 JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigl phosphatidylinositol glycan anchor biosynthesis class L ISO OMIM NCBI chrNW_004936821:290,240...381,126 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 chrNW_004936511:4,322,198...4,326,562 JBrowse link
G Alg11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,763,894...4,775,360 JBrowse link
G Arl11 ADP ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,