ITSN1, intersectin 1, 6453

N. diseases: 51; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 AlteredExpression group BEFREE We previously demonstrated that PI3K Class IIβ (PI3KC2β) and its regulator intersectin 1 (ITSN1) are highly expressed in primary NB tumors and cell lines. 25622909 2015
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.030 AlteredExpression disease BEFREE We previously demonstrated that PI3K Class IIβ (PI3KC2β) and its regulator intersectin 1 (ITSN1) are highly expressed in primary NB tumors and cell lines. 25622909 2015
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 AlteredExpression disease BEFREE We previously demonstrated that PI3K Class IIβ (PI3KC2β) and its regulator intersectin 1 (ITSN1) are highly expressed in primary NB tumors and cell lines. 25622909 2015
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.030 AlteredExpression disease BEFREE We previously demonstrated that PI3K Class IIβ (PI3KC2β) and its regulator intersectin 1 (ITSN1) are highly expressed in primary NB tumors and cell lines. 25622909 2015
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.030 AlteredExpression disease BEFREE Moreover, lung tissue of PAH animal models and human specimens and EC(PAH) express lower levels of ITSN-1s compared with controls and the GrB-EH(ITSN) cleavage product. 23893408 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 AlteredExpression group BEFREE Herein, we demonstrate that ITSN1 is expressed in primary human neuroblastoma tumors and tumor cell lines and is necessary for their in vitro and in vivo tumorigenic properties. 22266851 2012
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.030 Biomarker disease BEFREE Overexpression of the ITSN1 target, PI3K-C2β, rescues the soft agar growth of ITSN1-silenced cells demonstrating the importance of the ITSN1-PI3K-C2β pathway in neuroblastoma tumorigenesis. 22266851 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 Biomarker phenotype BEFREE Overexpression of the ITSN1 target, PI3K-C2β, rescues the soft agar growth of ITSN1-silenced cells demonstrating the importance of the ITSN1-PI3K-C2β pathway in neuroblastoma tumorigenesis. 22266851 2012
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 Biomarker disease BEFREE Overexpression of the ITSN1 target, PI3K-C2β, rescues the soft agar growth of ITSN1-silenced cells demonstrating the importance of the ITSN1-PI3K-C2β pathway in neuroblastoma tumorigenesis. 22266851 2012
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.030 Biomarker disease BEFREE Overexpression of the ITSN1 target, PI3K-C2β, rescues the soft agar growth of ITSN1-silenced cells demonstrating the importance of the ITSN1-PI3K-C2β pathway in neuroblastoma tumorigenesis. 22266851 2012
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.030 Biomarker disease BEFREE This study reveals a link between overexpression of specific ITSN1 isoforms and behavioral phenotypes and has implications for human neurodegenerative diseases such as Down's syndrome and Alzheimer's disease. 21876463 2011
CUI: C0017638
Disease: Glioma
Glioma 		0.030 AlteredExpression disease BEFREE In this study, we show that siRNA-mediated down regulation of ITSN1-s induced glioma cells apoptosis. 20493827 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.030 Biomarker disease BEFREE So fully understanding functions of intersectin 1 is critical for revealing the pathogenesis of DS. 19037327 2008
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.030 Biomarker disease LHGDN This review discusses in detail the known and potential roles of ITSN1 and DSCR1 in DS, AD, endocytosis and vesicle trafficking. 16442855 2006
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 Biomarker disease BEFREE Restoring ITSN-1s deficiency in lung cancer cells facilitates cytoskeleton changes favoring mesenchymal to epithelial transformation and impairs lung cancer progression. 28874189 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 Biomarker disease BEFREE Restoring ITSN-1s deficiency in lung cancer cells facilitates cytoskeleton changes favoring mesenchymal to epithelial transformation and impairs lung cancer progression. 28874189 2017
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 Biomarker disease BEFREE Restoring ITSN-1s deficiency in lung cancer cells facilitates cytoskeleton changes favoring mesenchymal to epithelial transformation and impairs lung cancer progression. 28874189 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 AlteredExpression disease BEFREE Restoring ITSN-1s protein level decreases LC cell proliferation and clonogenic potential. 27629044 2016
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 AlteredExpression disease BEFREE Restoring ITSN-1s protein level decreases LC cell proliferation and clonogenic potential. 27629044 2016
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 AlteredExpression disease BEFREE Restoring ITSN-1s protein level decreases LC cell proliferation and clonogenic potential. 27629044 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE Prior research of ours has shown intersectin1-S (ITSN1-S) is critical for the migration and invasion of glioma cells by regulating several key proteins. 25832561 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 Biomarker disease BEFREE This study reveals a link between overexpression of specific ITSN1 isoforms and behavioral phenotypes and has implications for human neurodegenerative diseases such as Down's syndrome and Alzheimer's disease. 21876463 2011
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE Our results indicate that ITSN1-s is a critical factor in gliomas invasion and identify that ITSN1-s is a new potentially antiinvasion target for therapeutic intervention in gliomas. 21503949 2011
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 Biomarker disease BEFREE This study reveals a link between overexpression of specific ITSN1 isoforms and behavioral phenotypes and has implications for human neurodegenerative diseases such as Down's syndrome and Alzheimer's disease. 21876463 2011
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 Biomarker disease BEFREE So fully understanding functions of intersectin 1 is critical for revealing the pathogenesis of DS. 19037327 2008