Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		disease 0.440 None 1.000 0 0 2002 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C4021563
Disease: Retinal nonattachment
Retinal nonattachment 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0432363
Disease: Shagreen patch
Shagreen patch 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C4022024
Disease: Upper limb asymmetry
Upper limb asymmetry 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.180 None 1.000 0 0 2006 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C4024641
Disease: Enlarged polycystic ovaries
Enlarged polycystic ovaries 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0040147
Disease: Thyroiditis
Thyroiditis 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C4025822
Disease: Abnormality of the parathyroid gland
Abnormality of the parathyroid gland 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0042485
Disease: Venous Insufficiency
Venous Insufficiency 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease 0.700 None 1.000 0 0 1997 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease 0.200 None 0.973 0 0 1997 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma 		disease 0.140 None 1.000 0 0 2007 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0178421
Disease: Fibroadenoma of breast
Fibroadenoma of breast 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0018920
Disease: Hemangioma, Cavernous
Hemangioma, Cavernous 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 0