Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5
0.700 GeneticVariation disease UNIPROT Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 23246288 2013
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5
0.700 Biomarker disease GENOMICS_ENGLAND Mutation of the PIK3CA gene in anaplastic thyroid cancer. 16288007 2005
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5
0.700 Biomarker disease CTD_human
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5
0.700 CausalMutation disease CLINVAR