R S. Smith, et.al., Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development., Human molecular genetics, 2000, 9

http://rdf.ncbi.nlm.nih.gov/pubmed/10767326

R S. Smith, et.al., Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development., Human molecular genetics, 2000, 9

pubmed

表現型アノテーション

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

• abnormal canal of Schlemm morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0005204I129S6SvEvTacC57BL6JFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal iridocorneal angle_Foxc1<ch>/Foxc1<+>
  http://metadb.riken.jp/0004221CHMULeFoxc1chFoxc1Foxc1Foxc1ch
• abnormal iris pigment epithelium_Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0005199I129S6SvEvTacBlackSwissFoxc2tm1BlhFoxc2Foxc2Foxc2tm1Blh
• abnormal iridocorneal angle_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0004221I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal trabecular meshwork morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0005203I129S6SvEvTacCASTEiFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• corneal vascularization_Foxc1<tm1Blh>/Foxc1<+>,Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0005542I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc2tm1BlhFoxc2Foxc2Foxc1Foxc1tm1BlhFoxc2tm1Blh
• abnormal anterior eye segment morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0005193I129S6SvEvTacC57BL6JFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• irregularly shaped pupil_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0001319129S6SvEvTacFoxc1tm1BlhFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal line of Schwalbe morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0006250I129S6SvEvTacC57BL6JFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• cornea ulcer_Foxc1<tm1Blh>/Foxc1<+>,Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0009825I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc2tm1BlhFoxc2Foxc2Foxc1Foxc1tm1BlhFoxc2tm1Blh
• abnormal iris pigment epithelium_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0005199I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal anterior eye segment morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0005193I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal cornea morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0001312129S6SvEvTacFoxc1tm1BlhFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal iridocorneal angle_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0004221I129S6SvEvTacC57BL6JFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal iris morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0001322I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• cataract_Foxc1<ch>/Foxc1<+>
  http://metadb.riken.jp/0001304CHMULeFoxc1chFoxc1Foxc1Foxc1ch
• abnormal iris morphology_Foxc1<tm1Blh>/Foxc1<+>,Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0001322I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc2tm1BlhFoxc2Foxc2Foxc1Foxc1tm1BlhFoxc2tm1Blh
• mydriasis_Foxc1<ch>/Foxc1<+>
  http://metadb.riken.jp/0002546CHMULeFoxc1chFoxc1Foxc1Foxc1ch
• ciliary body hypoplasia_Foxc1<ch>/Foxc1<+>
  http://metadb.riken.jp/0013743CHMULeFoxc1chFoxc1Foxc1Foxc1ch
• abnormal cornea morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0001312I129S6SvEvTacC57BL6JFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• absent Schlemm's canal_Foxc1<ch>/Foxc1<+>
  http://metadb.riken.jp/0004226CHMULeFoxc1chFoxc1Foxc1Foxc1ch
• irregularly shaped pupil_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0001319I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal cornea morphology_Foxc1<tm1Blh>/Foxc1<+>,Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0001312I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc2tm1BlhFoxc2Foxc2Foxc1Foxc1tm1BlhFoxc2tm1Blh
• cataract_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0001304I129S6SvEvTacC57BL6JFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• eyelids open at birth_Foxc1<tm1Blh>/Foxc1<+>,Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0001302I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc2tm1BlhFoxc2Foxc2Foxc1Foxc1tm1BlhFoxc2tm1Blh
• abnormal placement of pupils_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0006241129S6SvEvTacFoxc1tm1BlhFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• anterior iris synechia_Foxc1<ch>/Foxc1<+>
  http://metadb.riken.jp/0011481CHMULeFoxc1chFoxc1Foxc1Foxc1ch
• abnormal placement of pupils_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0006241I129S6SvEvTacC57BL6JFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• corneal vascularization_Foxc1<ch>/Foxc1<+>
  http://metadb.riken.jp/0005542CHMULeFoxc1chFoxc1Foxc1Foxc1ch
• abnormal trabecular meshwork morphology_Foxc1<ch>/Foxc1<+>
  http://metadb.riken.jp/0005203CHMULeFoxc1chFoxc1Foxc1Foxc1ch
• abnormal iris morphology_Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0001322I129S6SvEvTacBlackSwissFoxc2tm1BlhFoxc2Foxc2Foxc2tm1Blh
• abnormal iris morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0001322I129S6SvEvTacC57BL6JFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• irregularly shaped pupil_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0001319I129S6SvEvTacC57BL6JFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• anterior iris synechia_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0011481I129S6SvEvTacC57BL6JFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal iridocorneal angle_Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0004221I129S6SvEvTacBlackSwissFoxc2tm1BlhFoxc2Foxc2Foxc2tm1Blh
• abnormal canal of Schlemm morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0005204129S6SvEvTacFoxc1tm1BlhFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal ciliary body morphology_Foxc1<tm1Blh>/Foxc1<+>,Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0005099I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc2tm1BlhFoxc2Foxc2Foxc1Foxc1tm1BlhFoxc2tm1Blh
• abnormal anterior eye segment morphology_Foxc1<ch>/Foxc1<+>
  http://metadb.riken.jp/0005193CHMULeFoxc1chFoxc1Foxc1Foxc1ch
• abnormal canal of Schlemm morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0005204I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal canal of Schlemm morphology_Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0005204I129S6SvEvTacBlackSwissFoxc2tm1BlhFoxc2Foxc2Foxc2tm1Blh
• abnormal trabecular meshwork morphology_Foxc1<tm1Blh>/Foxc1<+>,Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0005203I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc2tm1BlhFoxc2Foxc2Foxc1Foxc1tm1BlhFoxc2tm1Blh
• abnormal trabecular meshwork morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0005203I129S6SvEvTacC57BL6JFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal anterior eye segment morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0005193129S6SvEvTacFoxc1tm1BlhFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal iridocorneal angle_Foxc1<tm1Blh>/Foxc1<+>,Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0004221I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc2tm1BlhFoxc2Foxc2Foxc1Foxc1tm1BlhFoxc2tm1Blh
• abnormal canal of Schlemm morphology_Foxc1<ch>/Foxc1<+>
  http://metadb.riken.jp/0005204CHMULeFoxc1chFoxc1Foxc1Foxc1ch
• iris stroma hypoplasia_Foxc1<tm1Blh>/Foxc1<+>,Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0006230I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc2tm1BlhFoxc2Foxc2Foxc1Foxc1tm1BlhFoxc2tm1Blh
• abnormal canal of Schlemm morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0005204I129S6SvEvTacCASTEiFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal ciliary process morphology_Foxc1<ch>/Foxc1<+>
  http://metadb.riken.jp/0014164CHMULeFoxc1chFoxc1Foxc1Foxc1ch
• iris hypoplasia_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0006226I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal trabecular meshwork morphology_Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0005203I129S6SvEvTacBlackSwissFoxc2tm1BlhFoxc2Foxc2Foxc2tm1Blh
• abnormal canal of Schlemm morphology_Foxc1<tm1Blh>/Foxc1<+>,Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0005204I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc2tm1BlhFoxc2Foxc2Foxc1Foxc1tm1BlhFoxc2tm1Blh
• abnormal iridocorneal angle_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0004221I129S6SvEvTacCASTEiFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal placement of pupils_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0006241I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal trabecular meshwork morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0005203I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal trabecular meshwork morphology_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0005203129S6SvEvTacFoxc1tm1BlhFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• iris stroma hypoplasia_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0006230I129S6SvEvTacBlackSwissFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• abnormal iridocorneal angle_Foxc1<tm1Blh>/Foxc1<+>
  http://metadb.riken.jp/0004221129S6SvEvTacFoxc1tm1BlhFoxc1tm1BlhFoxc1Foxc1Foxc1tm1Blh
• iris stroma hypoplasia_Foxc2<tm1Blh>/Foxc2<+>
  http://metadb.riken.jp/0006230I129S6SvEvTacBlackSwissFoxc2tm1BlhFoxc2Foxc2Foxc2tm1Blh