rs786204858, PTEN

N. diseases: 11
Disease: PTEN Hamartoma Tumor Syndrome ×
Source: ALL
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 A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350 2018
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 CausalMutation CLINVAR A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 28526761 2017
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 CausalMutation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533 2016
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 CausalMutation CLINVAR Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 25418537 2014
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 CausalMutation CLINVAR Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome. 23886400 2013