PLEK, pleckstrin, 5341

N. diseases: 83; N. variants: 6
Disease: Poikiloderma of Kindler ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		0.010 Biomarker disease BEFREE Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. 12668616 2003