Valeria. Tiranti, et.al., Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy., Nature medicine, 2009, 15

http://rdf.ncbi.nlm.nih.gov/pubmed/19136963

Valeria. Tiranti, et.al., Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy., Nature medicine, 2009, 15

pubmed

allele

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

• Ethe1<tm1.1Zev>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3838184

表現型アノテーション

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

• abnormal urine homeostasis_Ethe1<tm1.1Zev>/Ethe1<tm1.1Zev>
  http://metadb.riken.jp/0009643I129S7SvEvBrdC57BL6Ethe1tm11ZevEthe1tm11ZevEthe1tm11Zev
• increased circulating lactate level_Ethe1<tm1.1Zev>/Ethe1<tm1.1Zev>
  http://metadb.riken.jp/0013405I129S7SvEvBrdC57BL6Ethe1tm11ZevEthe1tm11ZevEthe1tm11Zev
• abnormal metabolism_Ethe1<tm1.1Zev>/Ethe1<tm1.1Zev>
  http://metadb.riken.jp/0005266I129S7SvEvBrdC57BL6Ethe1tm11ZevEthe1tm11ZevEthe1tm11Zev
• postnatal growth retardation_Ethe1<tm1.1Zev>/Ethe1<tm1.1Zev>
  http://metadb.riken.jp/0001732I129S7SvEvBrdC57BL6Ethe1tm11ZevEthe1tm11ZevEthe1tm11Zev
• abnormal blood homeostasis_Ethe1<tm1.1Zev>/Ethe1<tm1.1Zev>
  http://metadb.riken.jp/0009642I129S7SvEvBrdC57BL6Ethe1tm11ZevEthe1tm11ZevEthe1tm11Zev
• abnormal enzyme/coenzyme activity_Ethe1<tm1.1Zev>/Ethe1<tm1.1Zev>
  http://metadb.riken.jp/0005584I129S7SvEvBrdC57BL6Ethe1tm11ZevEthe1tm11ZevEthe1tm11Zev
• abnormal mineral level_Ethe1<tm1.1Zev>/Ethe1<tm1.1Zev>
  http://metadb.riken.jp/0000192I129S7SvEvBrdC57BL6Ethe1tm11ZevEthe1tm11ZevEthe1tm11Zev
• abnormal gait_Ethe1<tm1.1Zev>/Ethe1<tm1.1Zev>
  http://metadb.riken.jp/0001406I129S7SvEvBrdC57BL6Ethe1tm11ZevEthe1tm11ZevEthe1tm11Zev
• premature death_Ethe1<tm1.1Zev>/Ethe1<tm1.1Zev>
  http://metadb.riken.jp/0002083I129S7SvEvBrdC57BL6Ethe1tm11ZevEthe1tm11ZevEthe1tm11Zev
• hypoactivity_Ethe1<tm1.1Zev>/Ethe1<tm1.1Zev>
  http://metadb.riken.jp/0001402I129S7SvEvBrdC57BL6Ethe1tm11ZevEthe1tm11ZevEthe1tm11Zev

class

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

• Ethe1<tm1.1Zev>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3838184

トランスクリプトームデータ

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

• CD15821
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD15821