Katharina. Hopp, et.al., Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity., The Journal of clinical investigation, 2012, 122

http://rdf.ncbi.nlm.nih.gov/pubmed/23064367

Katharina. Hopp, et.al., Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity., The Journal of clinical investigation, 2012, 122

pubmed

allele

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

• Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5476822

class

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

• Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5476822

表現型アノテーション

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

• increased kidney weight_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0003917I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• decreased trabecular bone mass_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0010873I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• increased renal hamartoma incidence_Pkd1<tm1.1Pcha>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0003602I129S1SvC57BL6Pkd1tm11PchaPkd1tm11PchaPkd1tm11Pcha
• kidney failure_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0003606I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• increased kidney weight_Pkd1<tm1.1Pcha>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0003917I129S1SvC57BL6Pkd1tm11PchaPkd1tm11PchaPkd1tm11Pcha
• increased activity of parathyroid_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0003432I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• renal fibrosis_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0003985I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• renal fibrosis_Pkd1<tm1.1Pcha>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0003985I129S1SvC57BL6Pkd1tm11PchaPkd1tm11PchaPkd1tm11Pcha
• increased heart weight_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0002833I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• dilated proximal convoluted tubules_Pkd1<tm1.1Pcha>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0009050I129S1SvC57BL6Pkd1tm11PchaPkd1tm11PchaPkd1tm11Pcha
• increased blood urea nitrogen level_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0005565I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• polycystic kidney_Pkd1<tm1.1Pcha>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0008528I129S1SvC57BL6Pkd1tm11PchaPkd1tm11PchaPkd1tm11Pcha
• premature death_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0002083I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• increased blood urea nitrogen level_Pkd1<tm1.1Pcha>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0005565I129S1SvC57BL6Pkd1tm11PchaPkd1tm11PchaPkd1tm11Pcha
• enlarged kidney_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0003068I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• enlarged kidney_Pkd1<tm1.1Pcha>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0003068I129S1SvC57BL6Pkd1tm11PchaPkd1tm11PchaPkd1tm11Pcha
• uremia_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0009644I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• increased kidney epithelial cell primary cilium length_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0020382I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• heart left ventricle hypertrophy_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0002625I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• decreased compact bone mass_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0010962I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• decreased bone mineral density_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0000063I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• polycystic kidney_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0008528I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• abnormal kidney collecting duct morphology_Pkd1<tm1.1Pcha>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0004754I129S1SvC57BL6Pkd1tm11PchaPkd1tm11PchaPkd1tm11Pcha
• increased cell proliferation_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0000351I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha
• thick myocardium_Pkd1<tm1Shh>/Pkd1<tm1.1Pcha>
  http://metadb.riken.jp/0010656I129P2OlaHsd129S1SvC57BL6Pkd1tm1ShhPkd1tm11PchaPkd1tm1ShhPkd1tm11Pcha