Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.030 Biomarker group BEFREE SC-specific phosphatase and tensin homolog (Pten) inactivation and epidermal growth factor receptor (EGFR) overexpression (Dhh-Cre; Cnp-EGFR; Pten<sup>flox/flox</sup> or DET) mice were used and NMJ malformation was observed in these mice. 31122699 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.030 GeneticVariation group BEFREE An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy. 22469695 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.030 GeneticVariation group BEFREE The authors report the case of a 17-year-old girl who had a severe cyanotic cardiac malformation for which surgery was not advised and a heterozygous missense mutation (c.406T>C) in exon 5 of PTEN resulting in the substitution of cysteine for arginine (p.Cysl36Arg) in the protein, which was also found in her mother and sister. 17941496 2007