W T. McGuirt, et.al., Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)., Nature genetics, 1999, 23

http://rdf.ncbi.nlm.nih.gov/pubmed/10581026

W T. McGuirt, et.al., Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)., Nature genetics, 1999, 23

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• increased or absent threshold for auditory brainstem response_Col11a2<tm1Mne>/Col11a2<tm1Mne>
  http://metadb.riken.jp/0011967FVB129Col11a2tm1MneCol11a2tm1MneCol11a2tm1MneCol11a2tm1Mne
• impaired hearing_Col11a2<tm1Mne>/Col11a2<tm1Mne>
  http://metadb.riken.jp/0006325FVB129Col11a2tm1MneCol11a2tm1MneCol11a2tm1MneCol11a2tm1Mne
• sensorineural hearing loss_Col11a2<tm1Mne>/Col11a2<tm1Mne>
  http://metadb.riken.jp/0004740FVB129Col11a2tm1MneCol11a2tm1MneCol11a2tm1MneCol11a2tm1Mne
• nonsyndromic hearing loss_Col11a2<tm1Mne>/Col11a2<tm1Mne>
  http://metadb.riken.jp/0004749FVB129Col11a2tm1MneCol11a2tm1MneCol11a2tm1MneCol11a2tm1Mne
• enlarged tectorial membrane_Col11a2<tm1Mne>/Col11a2<tm1Mne>
  http://metadb.riken.jp/0004591FVB129Col11a2tm1MneCol11a2tm1MneCol11a2tm1MneCol11a2tm1Mne
• abnormal tectorial membrane morphology_Col11a2<tm1Mne>/Col11a2<tm1Mne>
  http://metadb.riken.jp/0003149FVB129Col11a2tm1MneCol11a2tm1MneCol11a2tm1MneCol11a2tm1Mne