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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ift140 and short-rib thoracic dysplasia 9 with or without polydactyly in Chinchilla lanigera.        

  • 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 IFT140 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 155 RGD objects have been annotated to short-rib thoracic dysplasia 9 with or without polydactyly  (DOID:0110097)
  • 2 papers in RGD have been used to annotate Ift140


  • An association has been curated linking Ift140 and short-rib thoracic dysplasia 9 with or without polydactyly in Chinchilla lanigera.        

  • 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 IFT140 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 155 RGD objects have been annotated to short-rib thoracic dysplasia 9 with or without polydactyly  (DOID:0110097)
  • 2 papers in RGD have been used to annotate Ift140
  • Curation Notes: ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly
  • Original References(s): PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:24183451 PMID:24698627 PMID:25640679 PMID:25741868 PMID:25741914 PMID:26216056 PMID:26359340 PMID:26766544 PMID:26968735 PMID:27058611 PMID:27874174 PMID:28041643 PMID:28288023 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28724397 PMID:28844315 PMID:28991257 PMID:29068549 PMID:29111861 PMID:29688594 PMID:29706353 PMID:29758562 PMID:29801666 PMID:30479745 PMID:30773290 PMID:30902645 PMID:31047384 PMID:31054281 PMID:31130284 PMID:31213501 PMID:31456290 PMID:31630094 PMID:31736247 PMID:31980526 PMID:32037395 PMID:32531858 PMID:32860008 PMID:32901917 PMID:33452237 PMID:33532864 PMID:33576794 PMID:33946315 PMID:34217267 PMID:34429528 PMID:34890546 PMID:34906470 PMID:36460718 PMID:9536098


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