Source: CLINVAR

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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease 1.000 strong 0.975 0 5 1972 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.800 strong 0.956 0 1 1997 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease 0.800 strong 0.978 0 4 1972 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.800 strong 0.950 0 3 1997 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.700 None 0.966 0 1 1997 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome 		disease 0.700 None 0.967 0 1 1997 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C2751642
Disease: GLIOMA SUSCEPTIBILITY 2
GLIOMA SUSCEPTIBILITY 2 		disease 0.600 strong 1.000 0 5 1972 2002
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0024299
Disease: Lymphoma
Lymphoma 		group 0.500 None 0.923 0 1 1998 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0018916
Disease: Hemangioma
Hemangioma 		disease 0.420 None 0.667 0 4 1997 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		disease 0.420 None 1.000 0 1 2014 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0023798
Disease: Lipoma
Lipoma 		disease 0.410 None 1.000 0 5 1997 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group 0.410 None 1.000 0 1 2002 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0241210
Disease: Speech Delay
Speech Delay 		disease 0.400 None 1.000 0 1 1997 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		phenotype 0.400 strong 1.000 0 5 1972 1972
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0349604
Disease: Intracranial Meningioma
Intracranial Meningioma 		disease 0.400 None 1.000 0 1 2002 2002
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2 		disease 0.400 strong 1.000 0 1 1972 1972
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0018552
Disease: Hamartoma
Hamartoma 		disease 0.200 None 1.000 0 1 1998 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.200 None 0.943 0 1 1998 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.180 None 1.000 0 5 2006 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease 0.180 None 1.000 0 1 2001 2018
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 19 2006 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		disease 0.160 None 0.833 0 1 2002 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.140 None 0.750 0 2 2011 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease 0.140 None 1.000 0 15 2001 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C3272802
Disease: Hamartomatous polyposis
Hamartomatous polyposis 		disease 0.140 None 1.000 0 1 2005 2015