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GENE - TERM ANNOTATION REPORT
3 Annotations Found.
An association has been curated linking
Gjb2
and
sensorineural hearing loss
in Mus musculus.
The association was
inferred from sequence orthology
(ISO)
The annotation was made from
Takiguchi Y, etal., Neurosci Res. 2013 Jul 1. pii: S0168-0102(13)00159-4. doi: 10.1016/j.neures.2013.06.003.
The annotation has been inferred from sequence orthology with
Gjb2 (Rattus norvegicus)
[(IEP) inferred from expression pattern]
17
additional annotations were made from
Takiguchi Y, etal., Neurosci Res. 2013 Jul 1. pii: S0168-0102(13)00159-4. doi: 10.1016/j.neures.2013.06.003.
617
RGD objects have been annotated to
sensorineural hearing loss
(DOID:10003)
44
papers in RGD have been used to annotate
Gjb2
Curation Notes: protein:increased expression:cochlea:
An association has been curated linking
Gjb2
and
sensorineural hearing loss
in Mus musculus.
The association was
inferred from sequence orthology
(ISO)
The annotation was made from
RGD automated import pipeline for CTD gene-to-disease annotations
The annotation has been inferred from sequence orthology with
GJB2 (Homo sapiens)
[(EXP) inferred from experiment]
617
RGD objects have been annotated to
sensorineural hearing loss
(DOID:10003)
44
papers in RGD have been used to annotate
Gjb2
Curation Notes: CTD Direct Evidence: marker/mechanism
Original References(s):
PMID:15091236
An association has been curated linking
Gjb2
and
sensorineural hearing loss
in Mus musculus.
The association was
inferred from sequence orthology
(ISO)
The annotation was made from
RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred from sequence orthology with
GJB2 (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
617
RGD objects have been annotated to
sensorineural hearing loss
(DOID:10003)
44
papers in RGD have been used to annotate
Gjb2
Curation Notes: ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder
Original References(s):
PMID:10204859
PMID:10369869
PMID:10376574
PMID:10422812
PMID:10477435
PMID:10508996
PMID:10544226
PMID:10607953
PMID:10633133
PMID:10713883
PMID:10751669
PMID:10782932
PMID:10874298
PMID:10982180
PMID:10982182
PMID:11313751
PMID:11313763
PMID:11386851
PMID:11439000
PMID:11483639
PMID:11493200
PMID:11551104
PMID:11556849
PMID:11668644
PMID:11807148
PMID:11912510
PMID:11918723
PMID:12072059
PMID:12081719
PMID:12172392
PMID:12172394
PMID:12176036
PMID:12189493
PMID:12239718
PMID:12522556
PMID:12548749
PMID:12562518
PMID:12684873
PMID:12746422
PMID:12786762
PMID:12791041
PMID:12865758
PMID:14070830
PMID:14643477
PMID:14694360
PMID:14722929
PMID:14735592
PMID:14986832
PMID:15070423
PMID:15113126
PMID:15146474
PMID:15359540
PMID:15365987
PMID:15617550
PMID:15633193
PMID:15656949
PMID:15666300
PMID:15757815
PMID:15769851
PMID:15954104
PMID:15967879
PMID:16088916
PMID:16222667
PMID:16300957
PMID:16336662
PMID:16380907
PMID:16532460
PMID:16773579
PMID:16840571
PMID:16849369
PMID:16868655
PMID:17330861
PMID:17426645
PMID:17428550
PMID:17553572
PMID:17660464
PMID:17666888
PMID:17671735
PMID:17993581
PMID:18294064
PMID:18414213
PMID:18472371
PMID:18776652
PMID:18804553
PMID:18843290
PMID:18925674
PMID:18941476
PMID:18985073
PMID:18987669
PMID:19043807
PMID:19101659
PMID:19125024
PMID:19235794
PMID:19366456
PMID:19371219
PMID:19375528
PMID:19925344
PMID:19929408
PMID:20073550
PMID:20086291
PMID:20086306
PMID:20101161
PMID:20236118
PMID:20301449
PMID:20668687
PMID:20739944
PMID:20815033
PMID:21055240
PMID:21220926
PMID:21366436
PMID:21465647
PMID:21468573
PMID:21910243
PMID:22037723
PMID:22281373
PMID:22389666
PMID:22567152
PMID:22567369
PMID:22567861
PMID:22613756
PMID:22704424
PMID:22855627
PMID:22975760
PMID:22981120
PMID:22995991
PMID:23489192
PMID:23668481
PMID:23757202
PMID:23797420
PMID:23924173
PMID:24013081
PMID:24033266
PMID:24039984
PMID:24158611
PMID:24158896
PMID:24346070
PMID:24737404
PMID:24774219
PMID:25262649
PMID:25266519
PMID:25388846
PMID:25575739
PMID:25741868
PMID:25999548
PMID:26059209
PMID:26096904
PMID:26178431
PMID:26188157
PMID:26445815
PMID:26467025
PMID:26553399
PMID:26749107
PMID:26778469
PMID:26969326
PMID:2706105
PMID:27141831
PMID:27153395
PMID:27884173
PMID:28492532
PMID:29362677
PMID:29501291
PMID:30086704
PMID:30303587
PMID:30311386
PMID:30344259
PMID:30431684
PMID:30872814
PMID:31160754
PMID:32067424
PMID:33524517
PMID:34440441
PMID:35396755
PMID:9285800
PMID:9328482
PMID:9336442
PMID:9482292
PMID:9529365
PMID:9600457
PMID:9620796
PMID:9819448
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