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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Col2a1 and spondyloperipheral dysplasia 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 COL2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondyloperipheral dysplasia  (DOID:0112195)
  • 3 papers in RGD have been used to annotate Col2a1


  • An association has been curated linking Col2a1 and spondyloperipheral dysplasia 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 COL2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondyloperipheral dysplasia  (DOID:0112195)
  • 3 papers in RGD have been used to annotate Col2a1
  • Curation Notes: ClinVar Annotator: match by term: Spondyloperipheral dysplasia | ClinVar Annotator: match by term: Spondyloperipheral dysplasia with short ulna | ClinVar Annotator: match by term: Spondyloperipheral dysplasia-short ulna syndrome
  • Original References(s): PMID:10612821 PMID:11746045 PMID:14729840 PMID:15266623 PMID:15316962 PMID:15895462 PMID:17078022 PMID:17347327 PMID:17509551 PMID:17726487 PMID:18272325 PMID:18276201 PMID:1905723 PMID:19344236 PMID:21472893 PMID:21924244 PMID:23079993 PMID:24033266 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25735649 PMID:25741868 PMID:25741869 PMID:25900302 PMID:26037341 PMID:26443184 PMID:26467025 PMID:26626311 PMID:28492532 PMID:32381255 PMID:34008892 PMID:7550321 PMID:7695699 PMID:7752132 PMID:7977371 PMID:8218237 PMID:8325895 PMID:8423604 PMID:8702139 PMID:8723097 PMID:8893763 PMID:9016532 PMID:9101290


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