Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7179
Gene Symbol: TPTE
TPTE
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.010 Biomarker BEFREE Exome sequencing of the family also identified a rare inherited variant predicted to disrupt splicing of TPTE / PTEN2, a PTEN homologue, which may likewise contribute to both macrocephaly and autism risk. 26076356

2015