Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
0.010 GeneticVariation disease BEFREE We tested this by looking for associations between two functional polymorphisms (the in/del polymorphism +9/-9 [rs5810761] and the single-nucleotide polymorphism C--58T [rs1799722]) of BDKRB2 (the gene encoding the bradykinin receptor B2) and susceptibility to AMS in an altitude-exposed Nepalese population. 20511677 2010