Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.410 Biomarker GENOMICS_ENGLAND Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2013

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.410 Biomarker GENOMICS_ENGLAND Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.410 Biomarker GENOMICS_ENGLAND Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2006