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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Mbtps2 and ichthyosis follicularis-alopecia-photophobia syndrome 1 in Ictidomys tridecemlineatus.        

  • 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 MBTPS2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to ichthyosis follicularis-alopecia-photophobia syndrome 1  (DOID:0111821)
  • 0 papers in RGD have been used to annotate Mbtps2


    • An association has been curated linking Mbtps2 and ichthyosis follicularis-alopecia-photophobia syndrome 1 in Ictidomys tridecemlineatus.        

  • 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 MBTPS2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to ichthyosis follicularis-alopecia-photophobia syndrome 1  (DOID:0111821)
  • 0 papers in RGD have been used to annotate Mbtps2
  • Curation Notes: ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome
  • Original References(s): PMID:10694306 PMID:19361614 PMID:21426410 PMID:22105905 PMID:24090718 PMID:24313295 PMID:25741868 PMID:28492532


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