Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50489
Gene Symbol: CD207
CD207
CUI: C3150657
Disease: BIRBECK GRANULE DEFICIENCY
BIRBECK GRANULE DEFICIENCY
0.300 GeneticVariation UNIPROT Polymorphisms in human langerin affect stability and sugar binding activity. 16567809

2006

Entrez Id: 50489
Gene Symbol: CD207
CD207
CUI: C3150657
Disease: BIRBECK GRANULE DEFICIENCY
BIRBECK GRANULE DEFICIENCY
0.300 GeneticVariation UNIPROT A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene. 15816828

2005