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: Auditory Neuropathy
Accession: DOID:9001890
browse the term
Synonyms: exact_synonym: Auditory dys-synchrony; Familial auditory neuropathy; Progressive auditory neuropathy
primary_id: MESH:C538268
xref: OMIM:PS609129
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:29040572 PMID:30250212 More...
NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
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Diaph3
diaphanous-related formin 3
ISO
ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 PMID:26467025 PMID:27658576 PMID:28492532 More...
NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
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Atp11a
ATPase phospholipid transporting 11A
ISO
OMIM
NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640
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Tmem43
transmembrane protein 43
ISO
ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3
OMIM ClinVar
PMID:18230648 PMID:20435227 PMID:21391237 PMID:21636032 PMID:23161701 PMID:23178689 PMID:23299917 PMID:23555315 PMID:23812740 PMID:23861362 PMID:24033266 PMID:25343256 PMID:25351510 PMID:25741868 PMID:25820315 PMID:26467025 PMID:26743238 PMID:26840987 PMID:28301460 PMID:28492532 PMID:29311375 PMID:30847666 PMID:31333075 PMID:31568572 PMID:32880476 PMID:33087929 PMID:34050020 PMID:35063694 PMID:37477868 More...
NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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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
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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
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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
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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
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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
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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
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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
Ensembl chr MT:13,543...14,061
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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 PMID:34242285 More...
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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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
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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 PMID:10903124 PMID:11483641 PMID:12114484 PMID:12127154 PMID:12525542 PMID:14635104 PMID:16097006 PMID:16199547 PMID:16226319 PMID:16283880 PMID:16371502 PMID:17036997 PMID:17512949 PMID:17576681 PMID:18381613 PMID:18804553 PMID:19250381 PMID:19461658 PMID:19636622 PMID:19888295 PMID:20146813 PMID:20211493 PMID:20224275 PMID:20230791 PMID:20301429 PMID:20504331 PMID:21117948 PMID:21216247 PMID:21557232 PMID:21935370 PMID:22575033 PMID:22607986 PMID:22906306 PMID:23208854 PMID:23562982 PMID:24001616 PMID:24033266 PMID:24053799 PMID:24746455 PMID:24814232 PMID:25262649 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25741914 PMID:25788563 PMID:25991456 PMID:26186295 PMID:26188103 PMID:26434960 PMID:26445815 PMID:26467025 PMID:26632695 PMID:26763877 PMID:26818607 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27082237 PMID:27177047 PMID:27621663 PMID:27652356 PMID:27657688 PMID:27729456 PMID:27766948 PMID:27821677 PMID:28075205 PMID:28335750 PMID:28492532 PMID:28766844 PMID:29048421 PMID:29196752 PMID:29293505 PMID:29362361 PMID:29484972 PMID:29752989 PMID:30065612 PMID:30096381 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30368385 PMID:30482216 PMID:31095577 PMID:31345219 PMID:31589614 PMID:31827501 PMID:31980526 PMID:32747562 PMID:32860223 PMID:32899707 PMID:32906206 PMID:33095980 PMID:33111345 PMID:33256196 PMID:33297549 PMID:33426078 PMID:33528103 PMID:33724713 PMID:33908410 PMID:34113375 PMID:34416374 PMID:34424407 PMID:34536124 PMID:34599368 PMID:34652575 PMID:35114279 PMID:35982127 PMID:22906306 PMID:22575033 PMID:22575033 PMID:14635104 PMID:20230791 PMID:16097006 PMID:10903124 PMID:12114484 PMID:10192385 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
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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
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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
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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
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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
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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
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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
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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
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Tecta
tectorin alpha
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:18381613 PMID:25008054 PMID:28492532 PMID:33111345
NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
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Ttr
transthyretin
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:14640030 PMID:15123043 PMID:15299640 PMID:15645642 PMID:17338921 PMID:17554795 PMID:21520333 PMID:21749890 PMID:22551192 PMID:24563469 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30336828 PMID:30938420 More...
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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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 PMID:25741868 PMID:28492532 PMID:29451896 More...
NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
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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
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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
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