Houman. Ashrafian, et.al., A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy., PLoS genetics, 2010, 6

http://rdf.ncbi.nlm.nih.gov/pubmed/20585624

Houman. Ashrafian, et.al., A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy., PLoS genetics, 2010, 6

pubmed

allele

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

• Dnm1l<Py>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4818906

class

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

• Dnm1l<Py>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4818906

表現型アノテーション

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

• abnormal heart morphology_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0000266IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• abnormal cell morphology_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0000358IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• increased body size_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0001264IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• abnormal pilomotor reflex_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0001492IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• abnormal cardiovascular system physiology_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0001544IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• skin edema_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0001786IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
他32件を見る
• thin myocardium_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0002652IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• dystrophic cardiac calcinosis_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0002837IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• increased circulating alanine transaminase level_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0002941IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• abnormal cell adhesion_Dnm1l<Py>/Dnm1l<Py>
  http://metadb.riken.jp/0003566IBALBcAnNCrlC3HHeHDnm1lPyDnm1lPyDnm1lPy
• increased left ventricle diastolic pressure_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0003819IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• decreased left ventricle systolic pressure_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0003822IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• embryonic growth retardation_Dnm1l<Py>/Dnm1l<Py>
  http://metadb.riken.jp/0003984IBALBcAnNCrlC3HHeHDnm1lPyDnm1lPyDnm1lPy
• caudal body truncation_Dnm1l<Py>/Dnm1l<Py>
  http://metadb.riken.jp/0004073IBALBcAnNCrlC3HHeHDnm1lPyDnm1lPyDnm1lPy
• abnormal cardiac muscle relaxation_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0004084IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• enlarged myocardial fiber_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0004564IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• decreased mean systemic arterial blood pressure_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0004876IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• dilated heart_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0004937IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• abnormal metabolism_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0005266IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• ascites_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0005324IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• increased circulating aspartate transaminase level_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0005343IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• tachypnea_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0005426IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• decreased ventricle muscle contractility_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0005598IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• cardiac interstitial fibrosis_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0005608IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• abnormal cell physiology_Dnm1l<Py>/Dnm1l<Py>
  http://metadb.riken.jp/0005621IBALBcAnNCrlC3HHeHDnm1lPyDnm1lPyDnm1lPy
• abnormal mitochondrion morphology_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0006035IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• abnormal mitochondrion morphology_Dnm1l<Py>/Dnm1l<Py>
  http://metadb.riken.jp/0006035IBALBcAnNCrlC3HHeHDnm1lPyDnm1lPyDnm1lPy
• congestive heart failure_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0006138IBALBcAnNCrlC3HHeHC57BL6JDnm1lPyDnm1lDnm1lDnm1lPy
• congestive heart failure_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0006138IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• abnormal heart ventricle pressure_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0008775IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• visceral vascular congestion_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0010017IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• pulmonary vascular congestion_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0010018IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• liver vascular congestion_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0010019IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• pleural effusion_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0010334IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• abnormal cellular respiration_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0010954IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• abnormal mitochondrial ATP synthesis coupled electron transport_Dnm1l<Py>/Dnm1l<+>
  http://metadb.riken.jp/0010956IBALBcAnNCrlC3HHeHDnm1lPyDnm1lDnm1lDnm1lPy
• prenatal lethality, complete penetrance_Dnm1l<Py>/Dnm1l<Py>
  http://metadb.riken.jp/0011091IBALBcAnNCrlC3HHeHDnm1lPyDnm1lPyDnm1lPy
• absent fibroblast proliferation_Dnm1l<Py>/Dnm1l<Py>
  http://metadb.riken.jp/0011705IBALBcAnNCrlC3HHeHDnm1lPyDnm1lPyDnm1lPy

トランスクリプトームデータ

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

• CD23129
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD23129