ITSN1, intersectin 1, 6453

N. diseases: 51; N. variants: 9
Disease: Down Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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