PLEK, pleckstrin, 5341

N. diseases: 83; N. variants: 6
Disease: Cherubism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008029
Disease: Cherubism
Cherubism 		0.010 Biomarker disease BEFREE Here we describe a novel mutation in an aggressive case of cherubism located in the pleckstrin homology domain (PH) of the SH3BP2. 17368082 2008