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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Tmem164 and midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis in Rattus norvegicus.        

  • 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 TMEM164 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  (DOID:0111859)
  • 1 papers in CRRD have been used to annotate Tmem164
  • Curation Notes: ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
  • Original References(s): PMID:21681106, PMID:27811305, PMID:28089922


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.