Lina. Basel-Vanagaite, et.al., Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome., American journal of human genetics, 2012, 91

http://rdf.ncbi.nlm.nih.gov/pubmed/23200864

Lina. Basel-Vanagaite, et.al., Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome., American journal of human genetics, 2012, 91

pubmed

表現型アノテーション

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

• impaired hearing_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>
  http://metadb.riken.jp/0006325I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg
• decreased grip strength_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>
  http://metadb.riken.jp/0010053I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg
• decreased body size_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>
  http://metadb.riken.jp/0001265I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg
• lymphangiectasis_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>
  http://metadb.riken.jp/0004038I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg
• decreased dentate gyrus size_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>
  http://metadb.riken.jp/0012460I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg
• eye inflammation_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>
  http://metadb.riken.jp/0001851I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg
• decreased brain size_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>
  http://metadb.riken.jp/0000774I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg
• decreased body weight_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>
  http://metadb.riken.jp/0001262I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg
• preweaning lethality, incomplete penetrance_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>
  http://metadb.riken.jp/0011110I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg
• decreased circulating LDL cholesterol level_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>
  http://metadb.riken.jp/0000183I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg
• decreased circulating cholesterol level_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>
  http://metadb.riken.jp/0005179I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg
• calcified retina_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>
  http://metadb.riken.jp/0006188I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg
• small hippocampus_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>
  http://metadb.riken.jp/0008283I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg
• reduced fertility_Ube3b<Gt(RRJ142)Byg>/Ube3b<Gt(RRJ142)Byg>
  http://metadb.riken.jp/0001921I129P2OlaHsdCBACaUbe3bGtRRJ142BygUbe3bGtRRJ142BygUbe3bGtRRJ142Byg