Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE
0.010 GeneticVariation disease BEFREE We conclude that the Phe377del mutation in ANK causes impaired osteoblastogenesis and osteoclastogenesis resulting in hypomineralization and a high bone mass phenotype. 21149338 2011