PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Proteus-Like Syndrome (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138336847
rs138336847
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017