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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:retrocochlear disease
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Accession:DOID:2889 term browser browse the term
Definition:Pathological processes involving the VESTIBULOCOCHLEAR NERVE; BRAINSTEM; or CENTRAL NERVOUS SYSTEM. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss.
Synonyms:exact_synonym: Retrocochlear Hearing Loss;   retrocochlear diseases
 primary_id: MESH:D012181;   RDO:0004713
For additional species annotation, visit the Alliance of Genome Resources.



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acoustic neuroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Artn artemin ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Cav1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
Auditory Neuropathy 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 ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:28492532 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
JBrowse link
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: Auditory dys-synchrony ClinVar PMID:25741868 PMID:28965846 PMID:29040572 NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:18381613 PMID:19250381 PMID:22575033 PMID:26818607 PMID:28492532 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30634948 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960
JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30818899 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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 ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition OMIM
ClinVar
PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 More... NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
JBrowse link
Auditory Perceptual Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: therapeutic CTD PMID:10578459 NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
JBrowse link
G Vsx1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
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
ISS
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT | ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition
OMIM:609129
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:15520414 PMID:17576681 PMID:20624953 PMID:21220648 More... NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
JBrowse link
Autosomal Dominant Auditory Neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO OMIM NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640
JBrowse link
autosomal dominant auditory neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 OMIM
ClinVar
PMID:18230648 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
JBrowse link
autosomal recessive nonsyndromic deafness 9 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 ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Cep135 centrosomal protein 135 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:28866084 NCBI chr14:31,530,538...31,595,812
Ensembl chr14:31,531,482...31,595,772
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:24218524 PMID:25326637 PMID:26467025 PMID:28492532 PMID:32743982 More... NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172
JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:25741868 PMID:28475857 NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403
JBrowse link
G Igsf6 immunoglobulin superfamily, member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:175,610,167...175,620,662
Ensembl chr 1:175,610,167...175,620,722
JBrowse link
G Mettl9 methyltransferase 9, His-X-His N1(pi)-histidine ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:175,575,805...175,623,065
Ensembl chr 1:175,577,890...175,623,061
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:26467025 PMID:28492532 PMID:29952689 PMID:30201499 PMID:33884488 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435
JBrowse link
G Otof otoferlin ISO
ISS
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder | ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 | ClinVar Annotator: match by term: OTOF-related condition
OMIM:601071
CTD Direct Evidence: marker/mechanism
DNA:duplication:cds:c.1981dupG (human)
DNA:missense mutation:cds:p.D1767G (mouse)
DNA:missense mutation:cds:p.R1939Q (human)
DNA:snps, deletion:cds:multiple (human)
associated with Fever;DNA:missense mutation, deletion:p.R1157Q, c.5410_5412delGAG (human)
DNA:missense mutation:cds:p.L1011P (human)
DNA:snp:intron:IVS8-2A>G (human)
DNA:nonsense mutation:cds:p.Q829X (human)
DNA:nonsense mutation:cds:p.Y730X (human)
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 More... RGD:9585724, RGD:9491826, RGD:9491826, RGD:9491386, RGD:9479161, RGD:9479157, RGD:737640, RGD:9479156, RGD:9479153 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:27082237 PMID:28492532 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
JBrowse link
G Slc17a8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:27068579 PMID:28492532 NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079
JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:24706558 PMID:24850488 PMID:24974158 PMID:25168210 PMID:25356970 More... NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
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 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human)
ClinVar
CTD
OMIM
RGD
PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960
JBrowse link
epithelial basement membrane dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epithelial basement membrane dystrophy
OMIM
CTD
ClinVar
PMID:16652336 PMID:19337156 PMID:25525159 PMID:28492532 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla8 patatin-like phospholipase domain containing 8 ISO ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 More... NCBI chr 6:61,329,810...61,391,736
Ensembl chr 6:61,329,810...61,391,734
JBrowse link
vestibular neuronitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein disease_progression ISO RGD PMID:14636287 RGD:9491594 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
vestibular schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
G Ascc2 activating signal cointegrator 1 complex subunit 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,503,449...79,547,801
Ensembl chr14:79,503,517...79,545,494
JBrowse link
G C14H22orf31 chromosome 14 C22orf31 homolog ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...
G Cabp7 calcium binding protein 7 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,598,822...79,609,172
Ensembl chr14:79,598,827...79,609,240
JBrowse link
G Ccdc117 coiled-coil domain containing 117 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:80,399,236...80,409,824
Ensembl chr14:80,400,294...80,409,659
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Emid1 EMI domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:80,000,486...80,043,561
Ensembl chr14:80,000,486...80,043,620
JBrowse link
G Ewsr1 EWS RNA-binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544
JBrowse link
G Gas2l1 growth arrest-specific 2 like 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,955,350...79,961,830
Ensembl chr14:79,950,555...79,961,438
JBrowse link
G Hscb HscB mitochondrial iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909
JBrowse link
G Kremen1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:80,081,870...80,147,489
Ensembl chr14:80,084,403...80,147,516
JBrowse link
G Mtmr3 myotubularin related protein 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,340,523...79,460,947
Ensembl chr14:79,340,513...79,461,041
JBrowse link
G Nefh neurofilament heavy chain ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO
ISS
ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2
OMIM:101000
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1479598 PMID:2543905 PMID:3313277 PMID:4000972 PMID:7535084 More... RGD:151708708, RGD:151708704 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Nipsnap1 nipsnap homolog 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,734,234...79,758,101
Ensembl chr14:79,734,209...79,758,098
JBrowse link
G Rasl10a RAS-like, family 10, member A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,955,093...79,956,471
Ensembl chr14:79,954,398...79,956,468
JBrowse link
G Rhbdd3 rhomboid domain containing 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,994,111...80,000,294
Ensembl chr14:79,994,158...80,000,175
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) RGD PMID:28365909 RGD:151708708 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
JBrowse link
G Thoc5 THO complex subunit 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,758,805...79,792,718
Ensembl chr14:79,758,917...79,792,718
JBrowse link
G Uqcr10 ubiquinol-cytochrome c reductase, complex III subunit X ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,566,151...79,569,017
Ensembl chr14:79,566,157...79,569,003
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:20406973 PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
JBrowse link
G Zmat5 zinc finger, matrin type 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,568,644...79,599,595
Ensembl chr14:79,568,758...79,599,594
JBrowse link
G Znrf3 zinc and ring finger 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:80,157,854...80,313,456
Ensembl chr14:80,160,278...80,313,485
JBrowse link
Vestibulocochlear Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 IEP mRNA:increased expression:Vestibulocochlear nerve: RGD PMID:22178544 RGD:8548530 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
X-linked deafness 5 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5
OMIM
CTD
ClinVar
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 ClinVar PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    sensory system disease 7183
      auditory system disease 1039
        retrocochlear disease 78
          Central Auditory Diseases + 41
          vestibulocochlear nerve disease + 39
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      nervous system disease 14218
        Neurologic Manifestations 10284
          sensory system disease 7183
            Otorhinolaryngologic Diseases 1782
              auditory system disease 1039
                retrocochlear disease 78
                  Central Auditory Diseases + 41
                  vestibulocochlear nerve disease + 39
paths to the root