STK11, serine/threonine kinase 11, 6794

N. diseases: 372; N. variants: 145
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome
0.010 GeneticVariation disease BEFREE A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy? 22679258 2011