Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental
0.300 Biomarker group CTD_human Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. 16826531 2006