Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder)
0.310 GermlineCausalMutation disease ORPHANET Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. 25758993 2015
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder)
0.310 GeneticVariation disease BEFREE Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. 25758993 2015