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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking COL3A1 and vascular type Ehlers-Danlos syndrome in Sus scrofa.        

  • 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 COL3A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to vascular type Ehlers-Danlos syndrome  (DOID:14756)
  • 0 papers in RGD have been used to annotate COL3A1


    • An association has been curated linking COL3A1 and vascular type Ehlers-Danlos syndrome in Sus scrofa.        

  • 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 COL3A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to vascular type Ehlers-Danlos syndrome  (DOID:14756)
  • 0 papers in RGD have been used to annotate COL3A1
  • Curation Notes: ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type
  • Original References(s): PMID:10706896 PMID:10923041 PMID:10928898 PMID:11359405 PMID:12131463 PMID:12488462 PMID:1352273 PMID:16199547 PMID:16751282 PMID:17053184 PMID:17251678 PMID:17576681 PMID:18043893 PMID:18272325 PMID:19011090 PMID:19344236 PMID:1939638 PMID:19424605 PMID:19444361 PMID:19477391 PMID:20052764 PMID:2049575 PMID:20518783 PMID:21086191 PMID:21520333 PMID:21533953 PMID:21637106 PMID:21984974 PMID:22001912 PMID:22019127 PMID:22065459 PMID:2235526 PMID:2243125 PMID:22492385 PMID:22713205 PMID:23148498 PMID:23234825 PMID:23293852 PMID:2349939 PMID:2365710 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24399159 PMID:24650746 PMID:24922459 PMID:24951259 PMID:25149929 PMID:25503501 PMID:25525159 PMID:25637381 PMID:25644172 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25848751 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:26854089 PMID:27011056 PMID:27146836 PMID:27153395 PMID:27168972 PMID:27306637 PMID:27488172 PMID:27888582 PMID:27964749 PMID:28035354 PMID:28087566 PMID:28492532 PMID:28655553 PMID:28748566 PMID:29192238 PMID:29309923 PMID:29346445 PMID:29510914 PMID:29543232 PMID:29590070 PMID:29650765 PMID:29778910 PMID:29790871 PMID:29907982 PMID:29940997 PMID:30087447 PMID:30115950 PMID:30122538 PMID:30129429 PMID:30374176 PMID:30379966 PMID:30474650 PMID:30675029 PMID:30793832 PMID:30919682 PMID:30999998 PMID:31075413 PMID:31126764 PMID:31141158 PMID:31531849 PMID:31600821 PMID:31719132 PMID:31903434 PMID:32483363 PMID:33087929 PMID:33125268 PMID:33282382 PMID:33726816 PMID:34047934 PMID:35092149 PMID:35406420 PMID:35699227 PMID:36103205 PMID:36977837 PMID:37042257 PMID:37086723 PMID:7665911 PMID:7695699 PMID:8098182 PMID:8218237 PMID:8514866 PMID:8680408 PMID:8881656 PMID:8990011 PMID:9036918 PMID:9143932 PMID:9399899 PMID:9536098


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