PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Congenital hemihypertrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		0.310 GeneticVariation disease BEFREE Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. 10749983 2000
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		0.310 Biomarker disease GENOMICS_ENGLAND