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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking USH2A and Abnormality of upper limb joint in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13831492 (Homo sapiens)
  • 792 RGD objects have been annotated to Abnormality of upper limb joint  (HP:0009810)
  • 21 papers in RGD have been used to annotate USH2A
  • Curation Notes: ClinVar Annotator: match by term: Abnormality of upper limb joint
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking USH2A and Abnormality of upper limb joint in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8556754 (Homo sapiens)
  • 792 RGD objects have been annotated to Abnormality of upper limb joint  (HP:0009810)
  • 21 papers in RGD have been used to annotate USH2A
  • Curation Notes: ClinVar Annotator: match by term: Abnormality of upper limb joint
  • Original References(s): PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:12525556 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:22135276 PMID:22581970 PMID:23924366 PMID:24033266 PMID:24160897 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26629787 PMID:26633545 PMID:26872967 PMID:26969326 PMID:27344577 PMID:27460420 PMID:28041643 PMID:28157192 PMID:28492532 PMID:28761320 PMID:28838317 PMID:29151245 PMID:29847639 PMID:29953849 PMID:30337596 PMID:30718709 PMID:30755392 PMID:31231422 PMID:31266775 PMID:31429209 PMID:31589614 PMID:31816670 PMID:31827275 PMID:31836858 PMID:31963381 PMID:31964843 PMID:31980526 PMID:32036094 PMID:32037395 PMID:32141364 PMID:32176120 PMID:32531858 PMID:32581362 PMID:32664777 PMID:32853555 PMID:33089500 PMID:33302505 PMID:33411470 PMID:33576794 PMID:33749171 PMID:34148116 PMID:34426522 PMID:34758253 PMID:34781295 PMID:34906470 PMID:34948090 PMID:35266249 PMID:35345973 PMID:35456422 PMID:35836572 PMID:36011334 PMID:36460718 PMID:36672815 PMID:36785559 PMID:36819107 PMID:36909829 PMID:9624053


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