PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4021040
Disease: Freckled genitalia
Freckled genitalia 		phenotype Finding 2 0.100 None 0
CUI: C4025715
Disease: Abnormal large intestine morphology
Abnormal large intestine morphology 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025822
Disease: Abnormality of the parathyroid gland
Abnormality of the parathyroid gland 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 3 56 0.100 None 1.000 30 54 1975 2017
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 3 56 0.100 None 1.000 30 54 1975 2017
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 3 56 0.100 None 1.000 30 54 1975 2017
CUI: C0474809
Disease: Endometrioid tumor
Endometrioid tumor 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 3 0.010 None 1.000 1 2006 2006
CUI: C0522618
Disease: Focal dysplasia
Focal dysplasia 		disease Congenital Abnormality 3 1 0.010 None 1.000 1 2000 2000
CUI: C0796664
Disease: Childhood Ovarian Germ Cell Tumor
Childhood Ovarian Germ Cell Tumor 		disease Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C1275273
Disease: Familial Multiple Lipomatosis
Familial Multiple Lipomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2001 2001
CUI: C1519714
Disease: Type II Endometrial Adenocarcinoma
Type II Endometrial Adenocarcinoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2004 2004
CUI: C1866552
Disease: PARAGANGLIOMAS 2 (disorder)
PARAGANGLIOMAS 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 3 1 0.010 None 1.000 1 2002 2002
CUI: C0001202
Disease: Acrokeratosis
Acrokeratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0040046
Disease: Thrombophlebitis
Thrombophlebitis 		disease Cardiovascular Diseases Pathologic Function 3 0.100 None 0
CUI: C1262299
Disease: Oral wart
Oral wart 		disease Infections Disease or Syndrome 3 1 0.100 None 0 1
CUI: C1844530
Disease: Midclavicular hypoplasia
Midclavicular hypoplasia 		phenotype Finding 3 0.100 None 0
CUI: C3278024
Disease: Enlarged cerebellum
Enlarged cerebellum 		phenotype Finding 3 0.100 None 0
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 4 56 0.740 strong 1.000 37 54 1975 2017
CUI: C0347001
Disease: Secondary malignant neoplasm of prostate
Secondary malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4 0.020 None 1.000 2 1999 2015
CUI: C1266088
Disease: Adenocarcinoma with neuroendocrine differentiation
Adenocarcinoma with neuroendocrine differentiation 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2014 2014
CUI: C1272516
Disease: Small cell glioblastoma
Small cell glioblastoma 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2014 2014
CUI: C1403996
Disease: Squamous cell metaplasia
Squamous cell metaplasia 		disease Disease or Syndrome 4 0.010 None 1.000 1 2016 2016
CUI: C2987188
Disease: Pancreatic Intraductal Neoplasms
Pancreatic Intraductal Neoplasms 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 4 0.010 None 1.000 1 2011 2011
CUI: C3277418
Disease: Gastrointestinal hamartomatous polyps
Gastrointestinal hamartomatous polyps 		disease Neoplastic Process 4 0.010 None 1.000 1 1997 1997
CUI: C4086171
Disease: Childhood Small Intestinal Carcinoma
Childhood Small Intestinal Carcinoma 		disease Neoplastic Process 4 0.010 None < 0.001 1 2003 2003