Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation LHGDN Screening of PTEN mutations is warranted in patients with autism and pronounced macrocephaly, even in the absence of other features of PTEN-related tumor syndromes. 17427195

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation LHGDN Of these 18 autistic subjects (13 males and five females; ages 3.1-18.4 years) with a head circumference range from 2.5 to 8.0 standard deviations above the mean, three males (17%) carried germline PTEN mutations. 15805158

2005