Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.010 GeneticVariation BEFREE Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2. 31318164 2019