PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11202592
rs11202592 		0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11202592
rs11202592 		0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs11202592
rs11202592 		0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs11202592
rs11202592 		0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs11202592
rs11202592 		0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs190070312
rs190070312 		1.000 0.080 10 87957938 stop gained C/G;T snv 6.8E-05 5.6E-05
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587782455
rs587782455 		0.790 0.160 10 87960892 splice acceptor variant A/G;T snv 5.1E-05
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 1998 2017
dbSNP: rs587782455
rs587782455 		0.790 0.160 10 87960892 splice acceptor variant A/G;T snv 5.1E-05
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs587782455
rs587782455 		0.790 0.160 10 87960892 splice acceptor variant A/G;T snv 5.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs587782455
rs587782455 		0.790 0.160 10 87960892 splice acceptor variant A/G;T snv 5.1E-05
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs587782455
rs587782455 		0.790 0.160 10 87960892 splice acceptor variant A/G;T snv 5.1E-05
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs587782455
rs587782455 		0.790 0.160 10 87960892 splice acceptor variant A/G;T snv 5.1E-05
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs587782455
rs587782455 		0.790 0.160 10 87960892 splice acceptor variant A/G;T snv 5.1E-05
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs587782455
rs587782455 		0.790 0.160 10 87960892 splice acceptor variant A/G;T snv 5.1E-05
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs773176120
rs773176120 		1.000 0.080 10 87925552 stop gained C/G;T snv 1.3E-05
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs562015640
rs562015640 		0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.710 1.000 21 1997 2008
dbSNP: rs562015640
rs562015640 		0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 1998 2008
dbSNP: rs562015640
rs562015640 		0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.020 1.000 2 2011 2017
dbSNP: rs562015640
rs562015640 		0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs562015640
rs562015640 		0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs562015640
rs562015640 		0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs562015640
rs562015640 		0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs562015640
rs562015640 		0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs562015640
rs562015640 		0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs562015640
rs562015640 		0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007