Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		0.610 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: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		0.610 Biomarker GENOMICS_ENGLAND A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. 11748304

2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		0.610 Biomarker CTD_human A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. 11748304

2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		0.610 Biomarker GENOMICS_ENGLAND Multiple hamartoma syndrome (Cowden's disease). 4635800

1972
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		0.610 Biomarker GENOMICS_ENGLAND

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		0.610 Biomarker GENOMICS_ENGLAND