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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking GRHL2 and Progressive sensorineural hearing impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Peters LM, etal., Hum Mol Genet. 2002 Nov 1;11(23):2877-85.
  • 3 additional annotations were made from Peters LM, etal., Hum Mol Genet. 2002 Nov 1;11(23):2877-85.
  • 65 RGD objects have been annotated to Progressive sensorineural hearing impairment  (HP:0000408)
  • 5 papers in RGD have been used to annotate GRHL2
  • Curation Notes: DNA:frameshift mutation:cds:1609_1610insC (human)


    • An association has been curated linking GRHL2 and Progressive sensorineural hearing impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12791655 (Homo sapiens)
  • 65 RGD objects have been annotated to Progressive sensorineural hearing impairment  (HP:0000408)
  • 5 papers in RGD have been used to annotate GRHL2
  • Curation Notes: ClinVar Annotator: match by term: Progressive sensorineural hearing impairment
  • Original References(s): PMID:27876815


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