CD207, CD207 molecule, 50489

N. diseases: 50; N. variants: 3
Disease: BIRBECK GRANULE DEFICIENCY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150657
Disease: BIRBECK GRANULE DEFICIENCY
BIRBECK GRANULE DEFICIENCY 		0.300 GeneticVariation disease UNIPROT Polymorphisms in human langerin affect stability and sugar binding activity. 16567809 2006
CUI: C3150657
Disease: BIRBECK GRANULE DEFICIENCY
BIRBECK GRANULE DEFICIENCY 		0.300 GeneticVariation disease UNIPROT A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene. 15816828 2005