Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
PTEN Hamartoma Tumor Syndrome
|
0.700 | CausalMutation | CLINVAR | Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. | 28475857 | 2017 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | CausalMutation | CLINVAR | KLLN epigenotype-phenotype associations in Cowden syndrome. | 25669429 | 2015 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | GeneticVariation | CLINVAR | PIK3CA and PTEN gene and exon mutation-specific clinicopathologic and molecular associations in colorectal cancer. | 23633456 | 2013 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | GeneticVariation | CLINVAR | High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. | 23335809 | 2013 | |||||
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
|
0.700 | GeneticVariation | CLINVAR | A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. | 21828076 | 2011 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | GeneticVariation | CLINVAR | Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. | 20533527 | 2010 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | CausalMutation | CLINVAR | Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. | 20533527 | 2010 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | CausalMutation | CLINVAR | The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. | 19265751 | 2009 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | GeneticVariation | CLINVAR | The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. | 19265751 | 2009 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | GeneticVariation | CLINVAR | Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. | 17526800 | 2007 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | CausalMutation | CLINVAR | Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. | 17526800 | 2007 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | CausalMutation | CLINVAR | Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. | 10866302 | 2000 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | GeneticVariation | CLINVAR | Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. | 10866302 | 2000 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | GeneticVariation | CLINVAR | PTEN mutations in gliomas and glioneuronal tumors. | 9619835 | 1998 |