Source: GENOMICS_ENGLAND

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: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 1.000 None 0.961 6 0 1972 2019
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 1 0 1972 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		disease 1.000 limited 0.981 0 0 1975 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		disease 0.910 None 1.000 3 0 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 2 0 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 1 0 1972 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		disease 0.800 strong 0.952 1 0 1972 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		disease 0.800 definitive 1.000 1 0 1972 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		disease 0.740 strong 1.000 0 0 1975 2017
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 3 0 1997 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		disease 0.700 None 1.000 1 0 2001 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		disease 0.610 None 1.000 3 0 1972 2017
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 1 0 1972 2002
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease 0.500 strong 0.976 0 0 1998 2019
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 1 0 1972 1972
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 1 0 1972 1972
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		disease 0.400 strong 1.000 0 0 1998 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.400 strong 0.964 0 0 2000 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.310 strong 1.000 0 0 2000 2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1835047
Disease: MELANOMA, CUTANEOUS MALIGNANT, 1
MELANOMA, CUTANEOUS MALIGNANT, 1 		disease 0.300 strong 1.000 1 0 1972 1972
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1704374
Disease: Carcinoma of Endocrine Gland
Carcinoma of Endocrine Gland 		disease 0.300 limited 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease 0.300 moderate 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.300 limited 0 0