CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
Disease: Complete Trisomy 21 Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 Biomarker disease BEFREE Characterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTB. 22140471 2011
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 Biomarker disease BEFREE We therefore evaluated expression levels of six proteins whose genes are encoded on chromosome 21 (synaptojanin-1, chromosome 21 open reading frame 2, oligomycin sensitivity confering protein, peptide 19, cystatin B and adenosine deaminase RNA-specific 2) in fetal cerebral cortex from DS and controls at 18-19 weeks of gestational age using Western blot analysis. 12624744 2003