abnormal retinal pigment epithelium morphology_Ube2cbp<em1Xxl>/Ube2cbp<+>

http://metadb.riken.jp/0005201NSUbe2cbpem1XxlUbe2cbpUbe2cbpUbe2cbpem1Xxl

abnormal retinal pigment epithelium morphology_Ube2cbp<em1Xxl>/Ube2cbp<+>

表現型アノテーション

MGI marker

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

• ubiquitin-conjugating enzyme E2C binding protein
  http://metadb.riken.jp/db/mgi_rdf/MGI:1917598

遺伝子型

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

• Ube2cbp<em1Xxl>/Ube2cbp<+>

アレルシンボル

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

• Ube2cbp<+>|Ube2cbp<em1Xxl>

遺伝的背景

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

• Not Specified

MP annotation

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

• abnormal retinal pigment epithelium morphology
  http://purl.obolibrary.org/obo/MP_0005201

文献

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

• Lv-Zhen. Huang, et.al., Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations., Nature communications, 2015, 6
  http://rdf.ncbi.nlm.nih.gov/pubmed/25872646