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: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 AlteredExpression disease BEFREE This study also demonstrates evidence suggesting that the regulation of ITSN1-S on glioblastoma cells proliferation is through the Raf/MEK/ERK pathway. 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 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: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.010 AlteredExpression disease BEFREE lnc-ITSN1-2 expression was increased in AIS patients compared to controls (P < .001), and receiver operating characteristic curve revealed its predictive value for AIS risk (area under the curve: 0.804, 95% confidence interval, 0.763-0.845). 31647141 2020
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 Biomarker group BEFREE Modulation of Intersectin-1s Lung Expression Induces Obliterative Remodeling and Severe Plexiform Arteriopathy in the Murine Pulmonary Vascular Bed. 28068512 2017
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE ONCOMINE, GEPIA, UALCAN, and Human Protein Atlas databases were used to investigate the characteristics of ITSN1 for the prognosis of breast carcinoma. 31564893 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 Biomarker phenotype BEFREE Orthotopic animal models can provide insight into the role of ITSN1 pathways in neuroblastoma tumorigenesis. 28787396 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 Biomarker phenotype BEFREE Besides its well-established role in endocytosis, ITSN1-s is involved in the regulation of cell signaling and is implicated in tumorigenesis processes, although the signaling pathways involved are still poorly understood. 29599122 2018
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: 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: 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: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 Biomarker disease BEFREE SK-N-AS neuroblastoma cells transfected with empty vector (pSR), vectors expressing scrambled shRNA (pSCR), or shRNAs targeting ITSN1 (sh#1 and sh#2) were used to create orthotopic neuroblastoma tumors in mice. 28787396 2017
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: 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: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 AlteredExpression disease BEFREE This study also demonstrates evidence suggesting that the regulation of ITSN1-S on glioblastoma cells proliferation is through the Raf/MEK/ERK pathway. 25832561 2015
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: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.030 Biomarker disease BEFREE SK-N-AS neuroblastoma cells transfected with empty vector (pSR), vectors expressing scrambled shRNA (pSCR), or shRNAs targeting ITSN1 (sh#1 and sh#2) were used to create orthotopic neuroblastoma tumors in mice. 28787396 2017
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: C0795875
Disease: Chromosome 21 monosomy
Chromosome 21 monosomy 		0.010 Biomarker disease BEFREE Microcephaly and brain structural abnormalities including polymicrogyria and agenesis/hypoplasia of the corpus callosum may also result from haploinsufficiency of ITSN1, highlighting its clinical significance for the neurological features of patients with monosomy 21. 24458657 2014
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
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 Biomarker group BEFREE Knockout (KO) mice lacking ITSN1 suffer from dispersion of pyramidal neurons and malformation of the radial glial scaffold, akin to the hippocampal lamination defects observed in VLDLR or ApoER2 mutants. 28484035 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 AlteredExpression disease BEFREE This study aimed to investigate the associations of circulating long, non-coding (lncRNA) IFNG-AS1, lncRNA ANRIL and lncRNA ITSN1 relative expressions with disease risk, severity and inflammatory cytokines levels in coronary artery disease (CAD) patients. 29744951 2018
CUI: C0302142
Disease: Deformity
Deformity 		0.010 Biomarker group BEFREE Knockout (KO) mice lacking ITSN1 suffer from dispersion of pyramidal neurons and malformation of the radial glial scaffold, akin to the hippocampal lamination defects observed in VLDLR or ApoER2 mutants. 28484035 2017