PTEN, phosphatase and tensin homolog, 5728

N. diseases: 983; N. variants: 56
Disease: VACTERL Association With Hydrocephalus ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		0.610 Biomarker disease BEFREE The clinical findings were consistent with the diagnosis of VACTERL-H. Molecular analysis of PTEN, FANCB, and HOXD13 genes revealed no mutation. 24411047 2013