Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551584
Disease: Brain atrophy
Brain atrophy
0.110 GeneticVariation disease CLINVAR
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.100 GeneticVariation disease CLINVAR
Human immunodeficiency virus (HIV) II infection category B1
0.010 Biomarker disease BEFREE By RNA fingerprinting, we isolated a tyrosine phosphatase, HD-PTP, modulated in human endothelial cells exposed to human immunodeficiency virus type 1 Tat, a viral protein known to be angiogenic. 16720300 2006
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.010 Biomarker disease BEFREE We propose 9 candidate genes: SERPINB1, FABP4, S100A8, HBEGF, IL7R, LRIG1, PTPN23, DPM2 and NUP214, as genes with high potential for association with sarcoidosis. 19946248 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 PosttranslationalModification group BEFREE These findings suggest that loss of PTPN23 may increase the activity of SRC and the phosphorylation status of the E-cadherin/β-catenin signaling complex to promote tumor growth and invasive behavior in breast cancer. 21724833 2011
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 Biomarker phenotype BEFREE Identification of PTPN23 as a novel regulator of cell invasion in mammary epithelial cells from a loss-of-function screen of the 'PTP-ome'. 21724833 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 PosttranslationalModification disease BEFREE These findings suggest that loss of PTPN23 may increase the activity of SRC and the phosphorylation status of the E-cadherin/β-catenin signaling complex to promote tumor growth and invasive behavior in breast cancer. 21724833 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 PosttranslationalModification disease BEFREE These findings suggest that loss of PTPN23 may increase the activity of SRC and the phosphorylation status of the E-cadherin/β-catenin signaling complex to promote tumor growth and invasive behavior in breast cancer. 21724833 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE These data indicate that PTPN23 functions as a tumor suppressor in TGCTs. 23843459 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 Biomarker phenotype BEFREE Protein-tyrosine phosphatase non-receptor type 23 (PTPN23) is a candidate tumor suppressor involved in the tumorigenesis of various organs. 23843459 2013
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor
0.010 Biomarker disease BEFREE Tumor-suppressive function of protein-tyrosine phosphatase non-receptor type 23 in testicular germ cell tumors is lost upon overexpression of miR142-3p microRNA. 23843459 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker group GENOMICS_ENGLAND Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE Altogether, we establish HD-PTP/PTPN23 as a prominent haploinsufficient tumor suppressor gene preventing tumor progression through control of integrin trafficking. 27210750 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 Biomarker phenotype BEFREE Here, we show that loss of function of an ESCRT protein (HD-PTP encoded by the PTPN23 gene, located on the tumor suppressor gene cluster 3p21.3) drives tumorigenesis in vivo. 27210750 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 Biomarker phenotype BEFREE Consistent with the role of HD-PTP in attenuation of integrin recycling, cell migration, and invasion, hemizygous Ptpn23(+/-) loss increases integrin β1-dependent B cell lymphoma survival and dissemination. 27210750 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE Haploinsufficiency of the ESCRT Component HD-PTP Predisposes to Cancer. 27210750 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 Biomarker group BEFREE Haploinsufficiency of the ESCRT Component HD-PTP Predisposes to Cancer. 27210750 2016
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 Biomarker phenotype BEFREE Altogether, we establish HD-PTP/PTPN23 as a prominent haploinsufficient tumor suppressor gene preventing tumor progression through control of integrin trafficking. 27210750 2016
CUI: C0345964
Disease: Adenoma of lung
Adenoma of lung
0.010 Biomarker disease BEFREE Indeed, Ptpn23(+/-) loss predisposes mice to sporadic lung adenoma, B cell lymphoma, and promotes Myc-driven lymphoma onset, dissemination, and aggressiveness. 27210750 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE The ESCRT member HD-PTP/<i>PTPN23</i> was recently identified as a novel haplo-insufficient tumour suppressor <i>in vitro</i> and <i>in vivo</i>, in mice and humans. 28620046 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE We demonstrated that tumor outgrowth from PTPN23-deficient BT474 cells was suppressed in a xenograft model in vivo upon treatment with AZD0530, an SFK inhibitor. 29066500 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 Biomarker phenotype BEFREE In this mini-review, we outline the role of the ESCRT components in cancer and summarize the functions of HD-PTP/<i>PTPN23</i> in tumorigenesis. 28620046 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 Biomarker phenotype BEFREE We validated the underlying mechanism of PTPN23 function in breast tumorigenesis as that of a key phosphatase that normally suppresses the activity of FYN in two different models. 29066500 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 Biomarker phenotype BEFREE In a loss-of-function PTPome screen, our laboratory identified PTPN23 as a suppressor of cell motility and invasion in mammary epithelial and breast cancer cells. 29066500 2017