Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 CausalMutation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809 2013
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 CausalMutation CLINVAR Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. 9832032 1998