ostium primum atrial septal defect_Nr1d2<tm1Dgen>/Nr1d2<tm1Dgen>

http://metadb.riken.jp/0010404B6129P2Nr1d2tm1DgenHNr1d2tm1DgenNr1d2tm1DgenNr1d2tm1Dgen

ostium primum atrial septal defect_Nr1d2<tm1Dgen>/Nr1d2<tm1Dgen>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• nuclear receptor subfamily 1, group D, member 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:2449205

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Nr1d2<tm1Dgen>/Nr1d2<tm1Dgen>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Nr1d2<tm1Dgen>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• B6;129P2-Nr1d2<tm1Dgen>/H

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• ostium primum atrial septal defect
  http://purl.obolibrary.org/obo/MP_0010404

文献

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

• James R. Priest, et.al., De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects., PLoS genetics, 2016, 12
  http://rdf.ncbi.nlm.nih.gov/pubmed/27058611