Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0747078
Disease: Generalized osteopenia
Generalized osteopenia
0.010 Biomarker disease BEFREE We provide further evidence for a role of Plekhm-1 in osteoclasts by showing that a novel mutation in PLEKHM1 is associated with a complex bone phenotype of generalized osteopenia combined with "focal osteosclerosis." 17997709 2008