Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth. | 29373119 | 2018 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Multiplex assessment of protein variant abundance by massively parallel sequencing. | 29785012 | 2018 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. | 29706350 | 2018 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Analysis of protein-coding genetic variation in 60,706 humans. | 27535533 | 2016 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Conformational stability and catalytic activity of PTEN variants linked to cancers and autism spectrum disorders. | 25647146 | 2015 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits. | 26579216 | 2015 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. | 21828076 | 2011 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | A mutant form of PTEN linked to autism. | 20718038 | 2010 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. | 15805158 | 2005 |