Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
0.300 GermlineCausalMutation disease ORPHANET Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. 26077881 2015