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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Bscl2 and congenital generalized lipodystrophy in Rattus norvegicus.        

  • 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 BSCL2 (Homo sapiens) [(EXP) inferred from experiment]
  • 7 RGD objects have been annotated to congenital generalized lipodystrophy  (DOID:0050585)
  • 13 papers in RGD have been used to annotate Bscl2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Bscl2 and congenital generalized lipodystrophy in Rattus norvegicus.        

  • 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 BSCL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to congenital generalized lipodystrophy  (DOID:0050585)
  • 13 papers in RGD have been used to annotate Bscl2
  • Curation Notes: ClinVar Annotator: match by term: Berardinelli syndrome | ClinVar Annotator: match by term: Berardinelli-Seip congenital lipodystrophy | ClinVar Annotator: match by term: Congenital generalized lipodystrophy | ClinVar Annotator: match by term: SEIP SYNDROME
  • Original References(s): PMID:11479539 PMID:12030893 PMID:12362029 PMID:14557463 PMID:14981520 PMID:15126564 PMID:15181077 PMID:15732094 PMID:16427281 PMID:16574104 PMID:16735770 PMID:1674639 PMID:17387721 PMID:17486577 PMID:17535271 PMID:17663003 PMID:18057387 PMID:18093937 PMID:18585921 PMID:18612770 PMID:18690553 PMID:18790819 PMID:19041432 PMID:19226263 PMID:19396477 PMID:19438831 PMID:19762912 PMID:20301391 PMID:20598714 PMID:20806400 PMID:21126715 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23553728 PMID:23564749 PMID:23659685 PMID:23989774 PMID:24345054 PMID:24451228 PMID:24604904 PMID:24778225 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26072926 PMID:26282322 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27549087 PMID:27612026 PMID:27632409 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:28916377 PMID:29269637 PMID:29478747 PMID:30903322 PMID:31372974 PMID:31475473 PMID:31770241 PMID:31824185 PMID:32320108 PMID:32792356 PMID:34085946 PMID:34942918 PMID:35351089 PMID:5964029


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