Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.110 GeneticVariation disease BEFREE Here, we report the identification of a novel homozygous variant in PTEN, NM_000314.4; c.545T>C; p.Leu182Ser, in two adolescent siblings with severe macrocephaly and mild intellectual disability. 26443266 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.110 Biomarker disease HPO