PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 Biomarker phenotype BEFREE Here, we review the evidence for the crucial involvement of PTEN in neuronal injury as well as in neurological and psychiatric disorders, and discuss the potential of PTEN as a molecular target for the development of a novel CNS therapeutic strategy. 17959258 2007
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		0.100 Biomarker phenotype HPO
CUI: C4025715
Disease: Abnormal large intestine morphology
Abnormal large intestine morphology 		0.100 Biomarker disease HPO
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		0.100 Biomarker disease HPO
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		0.100 Biomarker phenotype HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.010 GeneticVariation disease BEFREE Vascular malformations have a prevalence of 19%, with further evidence that complex cardiovascular malformations may be related to PTEN mutations; 31% of patients present hamartomas. 30528446 2019
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		0.100 Biomarker group HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		0.100 Biomarker group HPO
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		0.100 Biomarker phenotype HPO
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		0.100 Biomarker disease HPO
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.100 Biomarker phenotype HPO
CUI: C4025822
Disease: Abnormality of the parathyroid gland
Abnormality of the parathyroid gland 		0.100 Biomarker disease HPO
CUI: C4025896
Disease: Abnormality of the penis
Abnormality of the penis 		0.100 Biomarker disease HPO
CUI: C0241657
Disease: Abnormality of the vasculature
Abnormality of the vasculature 		0.100 Biomarker group HPO
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		0.100 Biomarker disease HPO
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma 		0.020 Biomarker disease BEFREE We examined the status of RB1, TP53, and PTEN in prostatic small cell and acinar carcinomas via immunohistochemistry (IHC), copy-number alteration analysis, and sequencing of formalin-fixed paraffin-embedded specimens. 24323898 2014
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma 		0.020 AlteredExpression disease BEFREE No foci of HGPIN showed uniform PTEN loss; there was only 38% concordance of PTEN expression pattern between HGPIN and the nearby acinar carcinoma, unlike AIP and IDC (77% and 81%, respectively, P<0.01). 28009609 2017
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.020 GeneticVariation disease BEFREE The maintained expression of the PTEN protein, together with the lack of detectable mutations in this gene, suggests that the function of the PTEN tumour suppressor gene is not altered in sporadic vestibular schwannomas. 12047763 2002
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.020 Biomarker disease BEFREE Because PTEN regulates signaling through the growth-promoting phosphoinositide 3-kinase/AKT pathway, our findings suggest that miR-21 may be a suitable molecular target for therapies aimed specifically at reducing VS growth. 20856158 2010
CUI: C0158486
Disease: Acquired genu recurvatum
Acquired genu recurvatum 		0.100 Biomarker phenotype HPO
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 AlteredExpression group BEFREE To investigate mTOR pathway activity in acquired immunodeficiency syndrome (AIDS) related diffuse large B-cell lymphoma AR-DLBCL, we used immunohistochemistry to examine the presence of the phosphorylated 70 ribosomal S6 protein-kinase (p70S6K), an extensively studied effector of mTOR Complex 1 (mTORC1) and the phosphorylated phosphatase and tensin homolog (pPTEN), a negative regulator of mTORC1 pathway. 28192480 2017
CUI: C0346037
Disease: Acral Lentiginous Malignant Melanoma
Acral Lentiginous Malignant Melanoma 		0.010 GeneticVariation disease BEFREE Only one of the ALMs that were screened for PTEN harbored a mutation (4%). 23993026 2013