Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Fibular hypoplasia and complex brachydactyly
0.400 CausalMutation disease CLINVAR
Fibular hypoplasia and complex brachydactyly
0.400 GermlineCausalMutation disease ORPHANET A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. 26105076 2015