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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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