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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Slc26a2 and Atelosteogenesis Type 2 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 SLC26A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Atelosteogenesis Type 2  (DOID:9006897)
  • 2 papers in RGD have been used to annotate Slc26a2


  • An association has been curated linking Slc26a2 and Atelosteogenesis Type 2 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 SLC26A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Atelosteogenesis Type 2  (DOID:9006897)
  • 2 papers in RGD have been used to annotate Slc26a2
  • Curation Notes: ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: De la Chapelle dysplasia | ClinVar Annotator: match by term: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1
  • Original References(s): PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:11727031 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:15720248 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:20592910 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 PMID:30423444 PMID:31880411 PMID:34064542 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225


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