PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.020 Biomarker disease BEFREE In this study, we investigated the expression of the autophagy-regulating genes Beclin-1, death-associated protein kinase-1, ultraviolet radiation resistance-associated gene, and phosphatase and tensin homolog in salivary gland ACC samples. 22712799 2012
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.020 Biomarker disease BEFREE This is to our knowledge the first case describing an association of ACC of the minor salivary gland with a PTEN-gene related disorder. 21822720 2011