Miguel A. Garcia-Gonzalez, et.al., Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway., Human molecular genetics, 2007, 16

http://rdf.ncbi.nlm.nih.gov/pubmed/17575307

Miguel A. Garcia-Gonzalez, et.al., Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway., Human molecular genetics, 2007, 16

pubmed

allele

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

• Pkhd1<tm1Ggg>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3759214
• Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3759215

表現型アノテーション

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

• pancreas cysts_Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0003336I129SSvEv129S4SvJaeC57BL6Pkhd1tm11GggPkhd1tm11GggPkhd1tm11Ggg
• kidney cysts_Pkd1<tm1Ggg>/Pkd1<+>,Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0003675I129SSvEv129S4SvJaeC57BL6Pkd1tm1GggPkd1Pkhd1tm11GggPkhd1tm11GggPkd1Pkd1tm1GggPkhd1tm11Ggg
• liver cysts_Pkd1<tm1Ggg>/Pkd1<+>,Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0003327I129SSvEv129S4SvJaeC57BL6Pkd1tm1GggPkd1Pkhd1tm11GggPkhd1tm11GggPkd1Pkd1tm1GggPkhd1tm11Ggg
• abnormal liver morphology_Pkd1<tm1Ggg>/Pkd1<+>,Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0000598I129SSvEv129S4SvJaeC57BL6Pkd1tm1GggPkd1Pkhd1tm11GggPkhd1tm11GggPkd1Pkd1tm1GggPkhd1tm11Ggg
• neonatal lethality, incomplete penetrance_Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0011088I129SSvEv129S4SvJaeC57BL6Pkhd1tm11GggPkhd1tm11GggPkhd1tm11Ggg
• postnatal growth retardation_Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0001732I129SSvEv129S4SvJaeC57BL6Pkhd1tm11GggPkhd1tm11GggPkhd1tm11Ggg
• respiratory failure_Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0001953I129SSvEv129S4SvJaeC57BL6Pkhd1tm11GggPkhd1tm11GggPkhd1tm11Ggg
• perinatal lethality, incomplete penetrance_Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0011090I129SSvEv129S4SvJaeC57BL6Pkhd1tm11GggPkhd1tm11GggPkhd1tm11Ggg
• liver cysts_Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0003327I129SSvEv129S4SvJaeC57BL6Pkhd1tm11GggPkhd1tm11GggPkhd1tm11Ggg
• perinatal lethality, incomplete penetrance_Pkd1<tm1Ggg>/Pkd1<+>,Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0011090I129SSvEv129S4SvJaeC57BL6Pkd1tm1GggPkd1Pkhd1tm11GggPkhd1tm11GggPkd1Pkd1tm1GggPkhd1tm11Ggg
• kidney cysts_Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0003675I129SSvEv129S4SvJaeC57BL6Pkhd1tm11GggPkhd1tm11GggPkhd1tm11Ggg
• premature death_Pkd1<tm1Ggg>/Pkd1<+>,Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0002083I129SSvEv129S4SvJaeC57BL6Pkd1tm1GggPkd1Pkhd1tm11GggPkhd1tm11GggPkd1Pkd1tm1GggPkhd1tm11Ggg
• bile duct inflammation_Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0003254I129SSvEv129S4SvJaeC57BL6Pkhd1tm11GggPkhd1tm11GggPkhd1tm11Ggg
• biliary cyst_Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0003266I129SSvEv129S4SvJaeC57BL6Pkhd1tm11GggPkhd1tm11GggPkhd1tm11Ggg
• enlarged kidney_Pkd1<tm1Ggg>/Pkd1<+>,Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0003068I129SSvEv129S4SvJaeC57BL6Pkd1tm1GggPkd1Pkhd1tm11GggPkhd1tm11GggPkd1Pkd1tm1GggPkhd1tm11Ggg
• dilated kidney collecting duct_Pkd1<tm1Ggg>/Pkd1<+>,Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0004860I129SSvEv129S4SvJaeC57BL6Pkd1tm1GggPkd1Pkhd1tm11GggPkhd1tm11GggPkd1Pkd1tm1GggPkhd1tm11Ggg
• liver fibrosis_Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0003333I129SSvEv129S4SvJaeC57BL6Pkhd1tm11GggPkhd1tm11GggPkhd1tm11Ggg
• abnormal bile duct development_Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0002929I129SSvEv129S4SvJaeC57BL6Pkhd1tm11GggPkhd1tm11GggPkhd1tm11Ggg
• dilated renal tubules_Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0002705I129SSvEv129S4SvJaeC57BL6Pkhd1tm11GggPkhd1tm11GggPkhd1tm11Ggg
• bile duct hyperplasia_Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0004839I129SSvEv129S4SvJaeC57BL6Pkhd1tm11GggPkhd1tm11GggPkhd1tm11Ggg
• postnatal growth retardation_Pkd1<tm1Ggg>/Pkd1<+>,Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0001732I129SSvEv129S4SvJaeC57BL6Pkd1tm1GggPkd1Pkhd1tm11GggPkhd1tm11GggPkd1Pkd1tm1GggPkhd1tm11Ggg
• pancreas cysts_Pkd1<tm1Ggg>/Pkd1<+>,Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0003336I129SSvEv129S4SvJaeC57BL6Pkd1tm1GggPkd1Pkhd1tm11GggPkhd1tm11GggPkd1Pkd1tm1GggPkhd1tm11Ggg
• enlarged kidney_Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/0003068I129SSvEv129S4SvJaeC57BL6Pkhd1tm11GggPkhd1tm11GggPkhd1tm11Ggg
• no abnormal phenotype detected_Pkhd1<tm1Ggg>/Pkhd1<tm1Ggg>
  http://metadb.riken.jp/0002169I129SSvEvC57BL6Pkhd1tm1GggPkhd1tm1GggPkhd1tm1Ggg

class

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

• Pkhd1<tm1Ggg>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3759214
• Pkhd1<tm1.1Ggg>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3759215