STK11, serine/threonine kinase 11, 6794

N. diseases: 372; N. variants: 145
Disease: Mucosal pigmentation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1963822
Disease: Mucosal pigmentation
Mucosal pigmentation 		0.010 GeneticVariation phenotype BEFREE Both these individuals developed mucosal pigmentation suggesting Peutz-Jeghers syndrome (PJS), which is associated with mutations in STK11. 26147831 2016