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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Sacs and Charlevoix-Saguenay spastic ataxia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with SACS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Charlevoix-Saguenay spastic ataxia  (DOID:0050946)
  • 6 papers in RGD have been used to annotate Sacs


    • An association has been curated linking Sacs and Charlevoix-Saguenay spastic ataxia 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 SACS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Charlevoix-Saguenay spastic ataxia  (DOID:0050946)
  • 6 papers in RGD have been used to annotate Sacs
  • Curation Notes: ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition
  • Original References(s): PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 PMID:14718706 PMID:14718707 PMID:14718708 PMID:15156359 PMID:15486997 PMID:15985586 PMID:16007637 PMID:16198375 PMID:16199547 PMID:16606928 PMID:16944349 PMID:16961075 PMID:17516465 PMID:17576681 PMID:18414213 PMID:18439928 PMID:18465152 PMID:18484239 PMID:18569450 PMID:18604465 PMID:19208651 PMID:19779133 PMID:19892370 PMID:20301432 PMID:20368637 PMID:20798953 PMID:20852969 PMID:20876471 PMID:21410841 PMID:21450511 PMID:21507954 PMID:21665375 PMID:21745802 PMID:21993619 PMID:22209141 PMID:22287014 PMID:22307627 PMID:22751902 PMID:22816526 PMID:22892508 PMID:23043354 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23338241 PMID:23497566 PMID:23598833 PMID:24033266 PMID:24108619 PMID:24164681 PMID:24180463 PMID:24318559 PMID:24384335 PMID:24418350 PMID:24457356 PMID:25237835 PMID:25260547 PMID:25326637 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25819952 PMID:25887915 PMID:26010040 PMID:26068213 PMID:26288984 PMID:26302956 PMID:26366743 PMID:26410750 PMID:26467025 PMID:26530509 PMID:26539891 PMID:27133561 PMID:27142713 PMID:27217339 PMID:27288452 PMID:27391121 PMID:27433545 PMID:27871429 PMID:27965395 PMID:27980752 PMID:28251916 PMID:28362824 PMID:28454995 PMID:28491899 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:28972115 PMID:29220673 PMID:29277257 PMID:29379980 PMID:29389947 PMID:29417091 PMID:29453517 PMID:29482223 PMID:29538656 PMID:29858556 PMID:29915382 PMID:29945973 PMID:29968200 PMID:30271475 PMID:30460542 PMID:30638817 PMID:30680480 PMID:30866998 PMID:30901567 PMID:31069529 PMID:31230722 PMID:31429931 PMID:31475473 PMID:31493945 PMID:31519934 PMID:31637422 PMID:31673878 PMID:31692161 PMID:31743419 PMID:31920494 PMID:31980526 PMID:32140197 PMID:32488064 PMID:32606552 PMID:32816195 PMID:33414805 PMID:33624863 PMID:33746006 PMID:33956305 PMID:34121011 PMID:34426522 PMID:34600502 PMID:34649874 PMID:34663476 PMID:34758253 PMID:34786481 PMID:34816117 PMID:35130357 PMID:35326432 PMID:35499206 PMID:35578252 PMID:35731353 PMID:36233161 PMID:9536098 PMID:9892370


    • An association has been curated linking Sacs and Charlevoix-Saguenay spastic ataxia 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 SACS (Homo sapiens) [(EXP) inferred from experiment]
  • 4 RGD objects have been annotated to Charlevoix-Saguenay spastic ataxia  (DOID:0050946)
  • 6 papers in RGD have been used to annotate Sacs
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Sacs and Charlevoix-Saguenay spastic ataxia in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Sacs (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Charlevoix-Saguenay spastic ataxia  (DOID:0050946)
  • 6 papers in RGD have been used to annotate Sacs
  • Curation Notes: OMIM:270550


    • An association has been curated linking Sacs and Charlevoix-Saguenay spastic ataxia 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 SACS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Charlevoix-Saguenay spastic ataxia  (DOID:0050946)
  • 6 papers in RGD have been used to annotate Sacs
  • Curation Notes: ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition
  • Original References(s): PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 PMID:14718706 PMID:14718707 PMID:14718708 PMID:15156359 PMID:15486997 PMID:15985586 PMID:16007637 PMID:16198375 PMID:16606928 PMID:16944349 PMID:16961075 PMID:17516465 PMID:17576681 PMID:18414213 PMID:18439928 PMID:18465152 PMID:18484239 PMID:18569450 PMID:18604465 PMID:19208651 PMID:19779133 PMID:19892370 PMID:20301432 PMID:20368637 PMID:20798953 PMID:20852969 PMID:20876471 PMID:21410841 PMID:21450511 PMID:21507954 PMID:21665375 PMID:21745802 PMID:21993619 PMID:22209141 PMID:22287014 PMID:22307627 PMID:22751902 PMID:22816526 PMID:22892508 PMID:23043354 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23338241 PMID:23497566 PMID:23598833 PMID:24033266 PMID:24108619 PMID:24164681 PMID:24180463 PMID:24318559 PMID:24384335 PMID:24457356 PMID:25237835 PMID:25260547 PMID:25326637 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25819952 PMID:25887915 PMID:26010040 PMID:26068213 PMID:26288984 PMID:26302956 PMID:26366743 PMID:26410750 PMID:26467025 PMID:26530509 PMID:26539891 PMID:27133561 PMID:27142713 PMID:27217339 PMID:27288452 PMID:27391121 PMID:27433545 PMID:27871429 PMID:27965395 PMID:27980752 PMID:28251916 PMID:28362824 PMID:28454995 PMID:28491899 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:28972115 PMID:29220673 PMID:29277257 PMID:29379980 PMID:29389947 PMID:29417091 PMID:29453517 PMID:29482223 PMID:29538656 PMID:29858556 PMID:29915382 PMID:29945973 PMID:29968200 PMID:30271475 PMID:30460542 PMID:30638817 PMID:30680480 PMID:30866998 PMID:30901567 PMID:31069529 PMID:31230722 PMID:31429931 PMID:31475473 PMID:31493945 PMID:31519934 PMID:31637422 PMID:31673878 PMID:31692161 PMID:31743419 PMID:31920494 PMID:31980526 PMID:32140197 PMID:32488064 PMID:32606552 PMID:32816195 PMID:33414805 PMID:33624863 PMID:33746006 PMID:33956305 PMID:34121011 PMID:34426522 PMID:34600502 PMID:34649874 PMID:34663476 PMID:34758253 PMID:34786481 PMID:34816117 PMID:35130357 PMID:35326432 PMID:35578252 PMID:35731353 PMID:36233161 PMID:9536098 PMID:9892370


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