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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Znf469 and brittle cornea syndrome 1 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 ZNF469 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to brittle cornea syndrome 1  (DOID:14775)
  • 2 papers in RGD have been used to annotate Znf469


    • An association has been curated linking Znf469 and brittle cornea syndrome 1 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 ZNF469 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to brittle cornea syndrome 1  (DOID:14775)
  • 2 papers in RGD have been used to annotate Znf469
  • Curation Notes: ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition
  • Original References(s): PMID:18452888 PMID:19661234 PMID:20938016 PMID:23642083 PMID:23680354 PMID:24082139 PMID:24895405 PMID:25097247 PMID:25564447 PMID:25741868 PMID:25741905 PMID:28377322 PMID:28484309 PMID:28492532 PMID:28622062 PMID:29228253 PMID:31107761 PMID:32671420 PMID:33739556 PMID:33747040 PMID:33816482 PMID:34368841 PMID:5755738 PMID:7387950


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