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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 Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807, PMID:23714322, PMID:28492532, PMID:29525873, PMID:30718709 NCBI chrNW_004936599:2,295,124...2,299,558 JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004936606:2,011,454...2,118,255 JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17265047, PMID:17693388, PMID:18445228, PMID:18521937, PMID:20079539, PMID:20238023, PMID:20506298, PMID:20549516, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24148654, PMID:24504161, PMID:24903488, PMID:25168900, PMID:25616768, PMID:25637600, PMID:25741868, PMID:25943428, PMID:26992781, PMID:27820752, PMID:28159970, PMID:28341476, PMID:28492532, PMID:28559085, PMID:29053603, PMID:30311386, PMID:30682209 NCBI 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, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16319819, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25205868, PMID:25558176, PMID:25616768, PMID:25741868, PMID:25770143, PMID:26106334, PMID:27479814, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709, PMID:32860008 NCBI 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:10393054, PMID:18614542, PMID:19615668, PMID:19887631, PMID:23776498, PMID:25741868, PMID:26103963, PMID:28041643, PMID:28492532, PMID:28704108, PMID:30080950 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)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
RGD
ClinVar
PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17693388, PMID:18521937, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24903488, PMID:25616768, PMID:25741868, PMID:25943428, PMID:26992781, PMID:28492532, PMID:30311386, PMID:30682209 RGD:9068452 NCBI chrNW_004936744:1,499,431...1,537,784 JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 treatment ISO ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
DNA:deletion: :c.1148delC (human)
RGD
ClinVar
PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:21576125, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25558176, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709, PMID:32860008 RGD:9068446, RGD:9068450 NCBI 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
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Total colorblindness ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:30311386, PMID:30718709, PMID:32860008 NCBI chrNW_004936544:1,166,896...1,305,339 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:19887631, PMID:25741868, PMID:30080950 NCBI chrNW_004936601:1,343,538...1,393,605 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 Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936687:1,435,977...1,437,138 JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:30311386 NCBI chrNW_004936721:1,078,570...1,106,153 JBrowse link
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:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI 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
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 Dspp 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, PMID:24082139, PMID:25741868, PMID:26284702, PMID:26346818, PMID:26467025, PMID:27393652, PMID:28492532, PMID:30311386, PMID:30828794 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 Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI 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 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 Diaph1 diaphanous related formin 1 ISO OMIM NCBI chrNW_004936504:12,548,452...12,645,236 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 Tecta tectorin alpha 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 Brca1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 13 ClinVar PMID:1157798, PMID:11802208, PMID:12161611, PMID:15744030, PMID:15923272, PMID:16489001, PMID:17403394, PMID:18036263, PMID:19404736, PMID:20516115, PMID:21702907, PMID:22034289, PMID:22889855, PMID:23867111, PMID:24055113, PMID:25637381, PMID:25741868, PMID:26287763, PMID:26467025, PMID:26689913, PMID:27495310, PMID:28024868, PMID:28492532, PMID:28781887, PMID:30209399, PMID:30263132, PMID:30458859 NCBI chrNW_004936490:17,735,444...17,801,456 JBrowse link
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 Trrap 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 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 Cdh23 cadherin related 23 ISO DNA:missense mutations:multiple RGD PMID:17850630 RGD:8662281 NCBI chrNW_004936521:7,078,874...7,285,361 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 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 PMID:20602914, PMID:22578326 NCBI chrNW_004936704:462,984...516,929 JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19732867, PMID:21465660, PMID:25741868, PMID:25792669, PMID:28000701, PMID:28492532 NCBI chrNW_004936517:271,909...409,818 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 Otof otoferlin ISO DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Deafness, autosomal recessive
RGD
ClinVar
PMID:17967520, PMID:27082237 RGD:9479154 NCBI chrNW_004936493:5,916,113...5,999,867 JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868, PMID:25960145, PMID:28492532 NCBI chrNW_004936801:1,185,615...1,298,416 JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chrNW_004936479:16,435,779...16,483,139 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 adapter protein-like 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 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 Cdh23 cadherin related 23 ISO OMIM NCBI chrNW_004936521:7,078,874...7,285,361 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, PMID:17850630, PMID:18273900, PMID:18429043, PMID:20146813, PMID:21228398, PMID:21569298, PMID:21940737, PMID:22135276, PMID:22899989, PMID:24033266, PMID:24875298, PMID:25468891, PMID:25741868, PMID:26467025, PMID:28492532 NCBI 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 Psap 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, PMID:12107438, PMID:12136232, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:16679490, PMID:16963483, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:20142502, PMID:20301442, PMID:20671281, PMID:21203349, PMID:21436283, PMID:21487335, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:24416283, PMID:24875298, PMID:25356976, PMID:25468891, PMID:25525159, PMID:25560255, PMID:25741868, PMID:26969326, PMID:27743452, PMID:28041643, PMID:28492532, PMID:30096381, PMID:30718709 NCBI 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, PMID:9328482, PMID:9336442, PMID:9422505, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10501520, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10980526, PMID:10982180, PMID:10982182, PMID:10983956, PMID:11074495, PMID:11102979, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11385713, PMID:11386851, PMID:11438992, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11807148, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12064630, PMID:12072059, PMID:12081719, PMID:12111646, PMID:12112666, PMID:12121355, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12352684, PMID:12384501, PMID:12384781, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12522692, PMID:12560944, PMID:12684873, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12885339, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14505035, PMID:14520102, PMID:14571368, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15482471, PMID:15617550, PMID:15638823, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15855033, PMID:15937416, PMID:15954104, PMID:15964725, PMID:15967879, PMID:15994881, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16467727, PMID:16532460, PMID:16545002, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17505205, PMID:17553572, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, PMID:18324688, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18804553, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19050930, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19465004, PMID:19586875, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20095872, PMID:20096468, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20497192, PMID:20563649, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20981092, PMID:21056478, PMID:21094084, PMID:21122151, PMID:21162657, PMID:21465647, PMID:21468573, PMID:21488715, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22747691, PMID:22785241, PMID:22796187, PMID:22855627, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22991996, PMID:22995991, PMID:23141775, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23967136, PMID:24013081, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24341454, PMID:24346070, PMID:24529908, PMID:24611097, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26096904, PMID:26117665, PMID:26119842, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26681637, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:27045574, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27610647, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843504, PMID:27884957, PMID:28000701, PMID:28489599, PMID:28492532, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30989077, PMID:31160754, PMID:163800907 NCBI 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
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO OMIM NCBI 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 LOC101965031 protocadherin-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 Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:8643598, PMID:22495306, PMID:23033978, PMID:24038936, PMID:25363760, PMID:25533962, PMID:25741868, PMID:26721934, PMID:27418539, PMID:28928363, PMID:32109419 NCBI chrNW_004936665:1,821,580...2,029,839 JBrowse link
G Triobp TRIO and F-actin binding protein ISO OMIM NCBI chrNW_004936492:3,337,791...3,390,420 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
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 Cdc14a cell division cycle 14A 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 Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated vestibular aqueduct ClinVar PMID:15205219, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26602028, PMID:28492532 NCBI chrNW_004936580:5,374,208...5,395,442 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 Tmc1 transmembrane channel like 1 ISO OMIM NCBI chrNW_004936503:8,669,465...8,826,340 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 Loxhd1 lipoxygenase homology domains 1 ISO OMIM NCBI chrNW_004936517:271,909...409,818 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 77 ClinVar PMID:10729113, PMID:15015129, PMID:15043528, PMID:15241801, PMID:15325563, PMID:16963483, PMID:18641288, PMID:20301515, PMID:21465660, PMID:22135276, PMID:22334370, PMID:24033266, PMID:24265693, PMID:24498627, PMID:24944099, PMID:25649381, PMID:25741868, PMID:25999674, PMID:28041643, PMID:28492532, PMID:28559085 NCBI chrNW_004936628:2,123,917...2,859,958 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, PMID:26467025, PMID:27259978, PMID:27281533, PMID:28301460, PMID:28492532, PMID:29358611 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 Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:25326637, PMID:28492532 NCBI chrNW_004936669:2,474,381...2,613,541 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
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 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 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 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:17345604, PMID:17564967, PMID:20683928, PMID:21866095, PMID:23188109, PMID:25741868, PMID:25920555, PMID:26092869, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29398085, PMID:30311386 NCBI chrNW_004936507:5,223,756...5,305,392 JBrowse link
G Cerkl ceramide kinase like ISO ClinVar Annotator: match by term: Vision loss ClinVar PMID:14681825, PMID:21151602, PMID:22164218, PMID:24043777, PMID:24625443, PMID:25097241, PMID:25741868, PMID:25999674, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709, PMID:221642182 NCBI chrNW_004936509:10,294,247...10,404,743 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chrNW_004936525:8,642,744...8,774,975 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 Lrrk2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chrNW_004936607:628,469...761,117 JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: VISION LOSS ClinVar PMID:21520333, PMID:28492532, PMID:30311386 NCBI chrNW_004936538:3,394,623...3,596,025 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 Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chrNW_004936605:4,265,475...4,338,518 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Legal blindness ClinVar PMID:15015129, PMID:15043528, PMID:15241801, PMID:15325563, PMID:16963483, PMID:18273898, PMID:20513143, PMID:21569298, PMID:24033266, PMID:24498627, PMID:24944099, PMID:25575603, PMID:25741868, PMID:26927203, PMID:27460420, PMID:28492532, PMID:30311386 NCBI 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 Parp10 poly(ADP-ribose) polymerase family member 10 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,179,416...8,194,041 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 Mbp 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 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: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA
ClinVar Annotator: match by term: Cowchock syndrome
ClinVar PMID:3856385, PMID:20362274, PMID:20818383, PMID:22019070, PMID:23217327, PMID:23806086, PMID:24088041, PMID:25583628, PMID:25590979, PMID:25741868, PMID:25934856, PMID:25986071, PMID:26173962, PMID:26257172, PMID:27102849, PMID:28492532, PMID:28842795, PMID:28967629, PMID:31523922 NCBI 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
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_004936565:2,686,783...2,687,377 JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,694,294...4,763,661 JBrowse link
G Bora BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,107,476...8,134,677 JBrowse link
G Cab39l calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,415,225...2,536,311 JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,336,613...2,395,816 JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,872,142...4,896,449 JBrowse link
G Cln5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,283,016...4,291,968 JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:599,703...624,821 JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,591,851...5,596,998 JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,917,970...1,919,027 JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,899,245...9,253,024 JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936705:1,381,025...1,833,890 JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,082,909...8,105,203 JBrowse link
G Dleu7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:3,706,566...3,722,689 JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,706,788...2,731,453 JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,446,864...3,478,434 JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,058,280...4,106,803 JBrowse link
G Fbxl3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,259,066...4,280,501 JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,154,672...2,312,670 JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,198,659...4,282,443 JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,535,570...1,557,667 JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,991,568...2,997,592 JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,389,558...4,395,630 JBrowse link
G Klf12 Kruppel like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:6,992,131...7,292,484 JBrowse link
G Klf5 Kruppel like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:7,806,714...7,824,833 JBrowse link
G Klhl1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:10,511,200...10,879,121 JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,738,003...2,775,814 JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,292,737...5,501,374 JBrowse link
G LOC101971599 tudor domain-containing protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:11,258,898...11,348,522 JBrowse link
G LOC101978403 histone-lysine N-methyltransferase SETDB2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,536,623...2,607,824 JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,688,218...1,689,876 JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,397,434...1,414,674 JBrowse link
G Mlnr motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,321,799...2,326,871 JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,977,950...4,248,959 JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,134,607...8,149,923 JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,063,630...2,123,214 JBrowse link
G Nek3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,840,416...4,863,349 JBrowse link
G Nek5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,779,843...4,836,093 JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,380,981...1,389,908 JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,800,466...2,847,896 JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:905,556...923,105 JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936820:764,016...860,325 JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936705:326,349...332,242 JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:716,802...721,441 JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936553:424,425...971,388 JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:7,860,552...8,082,850 JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,857,017...2,859,705 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,596,227...1,746,706 JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,175,192...2,252,955 JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,608,788...2,649,992 JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,750,565...1,789,779 JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:3,791,305...3,839,991 JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,696,150...3,794,031 JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,167,734...4,198,573 JBrowse link
G Slain1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,615,251...3,671,429 JBrowse link
G Slitrk1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936696:1,447,644...1,452,612 JBrowse link
G Slitrk6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936866:412,719...419,381 JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:1,452,421...1,458,031 JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,911,523...2,939,151 JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,313,150...1,355,693 JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:556,555...588,585 JBrowse link
G Tbc1d4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,789,683...5,858,930 JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,925,400...4,952,210 JBrowse link
G Trim13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,976,681...2,989,036 JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,524,425...5,581,156 JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,898,969...4,921,411 JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,375,012...4,527,259 JBrowse link
Chudley-Mccullough syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcc1 chloride channel CLIC like 1 ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004936704:518,040...539,526 JBrowse link
G Gpsm2 G protein signaling modulator 2 ISO OMIM NCBI chrNW_004936704:462,984...516,929 JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO OMIM NCBI chrNW_004936603:1,682,411...1,858,295 JBrowse link
color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdnf brain derived neurotrophic factor susceptibility ISO associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) RGD PMID:21640793 RGD:8655850 NCBI chrNW_004936540:5,530,081...5,582,765 JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chrNW_004936844:101,815...271,254 JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Color vision defects
ClinVar Annotator: match by term: Achromatopsia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9662398, PMID:11536077, PMID:14757870, PMID:17693388, PMID:23972307, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30418171, PMID:30682209 RGD:734792 NCBI chrNW_004936744:1,499,431...1,537,784 JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:mutations
CTD
RGD
PMID:10958649, PMID:30418171 RGD:1600870 NCBI chrNW_004936544:1,166,896...1,305,339 JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12077706 RGD:1599034 NCBI chrNW_004936704:1,079,255...1,093,732 JBrowse link
G Nr2e3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:10655056, PMID:15453866, PMID:15459973, PMID:18294254, PMID:19273793, PMID:19718767, PMID:21217109, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chrNW_004936471:31,229,322...31,236,093 JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chrNW_004936477:22,418,037...22,472,251 JBrowse link
G Pde6h phosphodiesterase 6H ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chrNW_004936587:2,505,755...2,514,103 JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:30311386, PMID:30718709 NCBI chrNW_004936646:191,136...195,279 JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:10937588, PMID:20669900, PMID:23150612, PMID:24940031, PMID:28209709, PMID:28492532, PMID:30311386 NCBI chrNW_004936502:12,656,187...12,701,689 JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chrNW_004936844:284,938...314,524 JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004936488:4,723,314...4,983,926 JBrowse link
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO OMIM NCBI chrNW_004936472:14,055,548...14,126,173 JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350, PMID:22563501, PMID:24220513, PMID:32214227 NCBI chrNW_004936692:2,788,477...2,836,094 JBrowse link
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhx3 LIM homeobox 3 ISO OMIM NCBI chrNW_004936669:1,561,433...1,573,074 JBrowse link
Conductive Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Conductive hearing loss ClinVar PMID:24033266 NCBI chrNW_004936476:25,663,563...25,692,315 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Conductive hearing loss ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Conductive hearing loss ClinVar PMID:30311386 NCBI chrNW_004936567:6,347,661...6,559,731 JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10471511 NCBI chrNW_004936648:395,526...546,705 JBrowse link
G Nog noggin ISO RGD PMID:18096605 RGD:12801451 NCBI chrNW_004936490:6,262,651...6,264,069 JBrowse link
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep250 centrosomal protein 250 ISO OMIM NCBI chrNW_004936561:5,283,258...5,331,688 JBrowse link
Congenital Anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO RGD PMID:17898177 RGD:8662303 NCBI chrNW_004936507:5,223,756...5,305,392 JBrowse link
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc33a1 solute carrier family 33 member 1 ISO OMIM NCBI chrNW_004936519:3,038,895...3,061,215 JBrowse link
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf3 fibroblast growth factor 3 ISO OMIM NCBI chrNW_004936599:868,634...875,464 JBrowse link
Congenital Myopathy with Neuropathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO OMIM NCBI chrNW_004936661:2,831,132...2,903,619 JBrowse link
congenital stationary night blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar PMID:28492532 NCBI chrNW_004936599:2,295,124...2,299,558 JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A
DNA:mutation:cds: c.2941C>T (rat)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9662399, PMID:9662400, PMID:12111638, PMID:18246026, PMID:25307992, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709, PMID:30825406 RGD:13782370, RGD:734671 NCBI chrNW_004936721:1,078,570...1,106,153 JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chrNW_004936844:101,815...271,254 JBrowse link
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar NCBI chrNW_004936471:25,914,284...26,022,512 JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD
ClinVar
NCBI chrNW_004936529:1,735,258...1,740,297 JBrowse link
G Gnb3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936709:970,169...977,059 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
ClinVar Annotator: match by term: Congenital stationary night blindness
CTD
ClinVar
PMID:22325361, PMID:22325362, PMID:24033266, PMID:28041643 NCBI chrNW_004936490:13,801,514...13,818,666 JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30718709 NCBI chrNW_004936472:152,202...165,134 JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
CTD
ClinVar
PMID:16249515, PMID:17405131, PMID:19666700, PMID:22008250, PMID:28041643, PMID:28492532, PMID:30718709 NCBI chrNW_004936739:1,726,382...1,742,937 JBrowse link
G Lrit3 leucine rich repeat, Ig-like and transmembrane domains 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD
ClinVar
PMID:28492532 NCBI chrNW_004936563:1,036,079...1,054,778 JBrowse link
G Nyx nyctalopin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness, X-linked
CTD
ClinVar
NCBI chrNW_004936502:7,890,582...7,909,157 JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:7493036, PMID:30311386 NCBI chrNW_004936504:5,018,171...5,088,333 JBrowse link
G Pde6b phosphodiesterase 6B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD
ClinVar
PMID:8075643, PMID:30311386, PMID:30718709 NCBI chrNW_004936477:22,418,037...22,472,251 JBrowse link
G Rho rhodopsin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD
ClinVar
PMID:8107847, PMID:8358437, PMID:28492532, PMID:30311386 NCBI chrNW_004936602:896,730...901,480 JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30311386 NCBI chrNW_004936675:2,527,406...2,564,464 JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:28041643 NCBI chrNW_004936502:5,163,164...5,212,940 JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chrNW_004936844:284,938...314,524 JBrowse link
G Sag S-antigen visual arrestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670478 NCBI chrNW_004936525:3,932,118...3,965,651 JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD
ClinVar
PMID:28492532 NCBI chrNW_004936471:25,872,854...25,909,102 JBrowse link
G Trpm1 transient receptor potential cation channel subfamily M member 1 ISO DNA:mutations:exon, intron:multiple (human)
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
DNA:deletion, missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
RGD
ClinVar
CTD
PMID:19878917, PMID:19896109, PMID:19896113, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386 RGD:7175555, RGD:7183084, RGD:7183085 NCBI chrNW_004936483:723,784...856,839 JBrowse link
G Trpv3 transient receptor potential cation channel subfamily V member 3 ISO DNA:mutations:multiple (human) RGD PMID:19878917 RGD:7175555 NCBI chrNW_004936677:239,133...270,512 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12525556, PMID:14970843, PMID:15025721, PMID:15325563, PMID:15326663, PMID:17296898, PMID:17405132, PMID:18641288, PMID:18665195, PMID:19881469, PMID:20145675, PMID:20301515, PMID:21174530, PMID:21234346, PMID:22495311, PMID:22581970, PMID:23352160, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24607488, PMID:24944099, PMID:25097241, PMID:25404053, PMID:25649381, PMID:25741868, PMID:26633545, PMID:26872967, PMID:28041643, PMID:28492532, PMID:29953849, PMID:30718709 NCBI chrNW_004936628:2,123,917...2,859,958 JBrowse link
congenital stationary night blindness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nyx nyctalopin ISO OMIM NCBI chrNW_004936502:7,890,582...7,909,157 JBrowse link
congenital stationary night blindness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chrNW_004936471:25,914,284...26,022,512 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chrNW_004936490:13,801,514...13,818,666 JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO OMIM NCBI chrNW_004936739:1,726,382...1,742,937 JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chrNW_004936471:25,872,854...25,909,102 JBrowse link
congenital stationary night blindness 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C
ClinVar NCBI chrNW_004936471:25,914,284...26,022,512 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: m