Hiroshi. Watanabe, et.al., Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro., Circulation, 2011, 124

http://rdf.ncbi.nlm.nih.gov/pubmed/21824921

Hiroshi. Watanabe, et.al., Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro., Circulation, 2011, 124

pubmed

allele

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

• Scn5a<tm4(SCN5A)Rdn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5445934
• Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5445892

表現型アノテーション

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

• abnormal heart electrocardiography waveform feature_Scn5a<tm3(SCN5A*)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0010508I129S6SvEvTacScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdn
• dilated heart ventricle_Scn5a<tm3(SCN5A*)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0008022I129S6SvEvTacScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdn
• dilated heart left ventricle_Scn5a<tm1(SCN5A)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0002753I129S6SvEvTacScn5atm1SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm1SCN5ARdn
• decreased heart rate_Scn5a<tm3(SCN5A*)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0005333I129S6SvEvTacScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdn
• atrial fibrillation_Scn5a<tm3(SCN5A*)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0008543I129S6SvEvTacScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdn
• prolonged QRS complex duration_Scn5a<tm1(SCN5A)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0010392I129S6SvEvTacScn5atm1SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm1SCN5ARdn
• prolonged PR interval_Scn5a<tm3(SCN5A*)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0003896I129S6SvEvTacScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdn
• dilated heart left ventricle_Scn5a<tm3(SCN5A*)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0002753I129S6SvEvTacScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdn
• prolonged QRS complex duration_Scn5a<tm3(SCN5A*)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0010392I129S6SvEvTacScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdn
• abnormal sinoatrial node conduction_Scn5a<tm3(SCN5A*)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0006142I129S6SvEvTacScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdn
• decreased cardiac muscle contractility_Scn5a<tm1(SCN5A)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0005140I129S6SvEvTacScn5atm1SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm1SCN5ARdn
• decreased cardiac muscle contractility_Scn5a<tm3(SCN5A*)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0005140I129S6SvEvTacScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdn
• abnormal myocardial fiber physiology_Scn5a<tm3(SCN5A*)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0004215I129S6SvEvTacScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdn
• ventricular tachycardia_Scn5a<tm3(SCN5A*)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0008950I129S6SvEvTacScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdn
• prolonged P wave_Scn5a<tm3(SCN5A*)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0004071I129S6SvEvTacScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdn
• prolonged P wave_Scn5a<tm1(SCN5A)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0004071I129S6SvEvTacScn5atm1SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm1SCN5ARdn
• atrioventricular block_Scn5a<tm3(SCN5A*)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0010519I129S6SvEvTacScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdn
• decreased heart rate_Scn5a<tm1(SCN5A)Rdn>/Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/0005333I129S6SvEvTacScn5atm1SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm1SCN5ARdn

class

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

• Scn5a<tm4(SCN5A)Rdn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5445934
• Scn5a<tm3(SCN5A*)Rdn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5445892