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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking DIAPH1 and sensorineural hearing loss in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Lynch ED, etal., Science. 1997 Nov 14;278(5341):1315-8.
  • 2 additional annotations were made from Lynch ED, etal., Science. 1997 Nov 14;278(5341):1315-8.
  • 904 RGD objects have been annotated to sensorineural hearing loss  (DOID:10003)
  • 8 papers in RGD have been used to annotate DIAPH1
  • Qualifier: susceptibility
  • Curation Notes: autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutation


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