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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.160 None 1.000 148 183 1997 2018
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 70 89 1972 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		disease 0.100 None 1.000 30 54 1975 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		disease 0.100 None 1.000 30 54 1975 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		disease 0.100 None 1.000 30 54 1975 2017
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 19 21 1972 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.400 None 1.000 14 1 2001 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 14 5 2001 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 14 3 2001 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 14 1 2001 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 14 3 2001 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.160 None 1.000 11 5 2004 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease 0.500 None 1.000 7 1 1998 2020
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 5 5 1972 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.500 None 1.000 5 6 1998 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group 0.500 None 1.000 3 4 1999 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease 0.700 None 1.000 3 21 1997 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype 0.100 None 1.000 2 34 2012 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0153368
Disease: Malignant neoplasm of floor of mouth
Malignant neoplasm of floor of mouth 		disease 0.100 None 1.000 2 1 2011 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.500 None 1.000 2 2 2001 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease 0.500 None 0.977 1 2 1997 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.200 None 0.976 1 1 1997 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.440 None 1.000 1 2 2000 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.700 None 1.000 1 2 1998 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease 0.400 None 1.000 1 6 2005 2019