SYT1, synaptotagmin 1, 6857

N. diseases: 460; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 AlteredExpression disease BEFREE It is firmly established that overactivation of the p65 (RelA) nuclear factor kappa B (NF-κB) transcription factor upregulates expression of inflammatory mediators in both immune and non-immune resident CNS cells and promotes inflammation during MS. 31362762 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 Biomarker disease BEFREE In addition, the amount of p65 translocated to the nucleus in cells of patients with progressive MS was not increased upon non-specific activation of the cells with the mitogen Con A. 29655870 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 AlteredExpression disease BEFREE The PTPN1, ERBB3, and CDH1 were observed to be the highly ranked hub genes connected with disease-related genes of both EMS and MS. Androgen receptor (AR) and nuclear factor-kB p65 (RelA) were observed to be the most enriched transcription factor in the upstream of shared down-regulated and up-regulated genes, respectively. 29503661 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 AlteredExpression disease BEFREE Finally, naïve CD4 T cells from patients with MS express enhanced activation of p65 NFκB. 26062845 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 AlteredExpression disease BEFREE The mean level of DNA-binding p65 in MS was proportionate to that of healthy controls, but was significantly decreased directly after therapy whereas the level of DNA-binding p50 was significantly elevated prior to therapy and remained unchanged. 17889033 2008
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 Biomarker disease BEFREE Taken together, these results illustrate a role for p65 in regulating the ERVWE1 promoter and in TNFalpha-mediated induction of syncytin-1 in multiple sclerosis. 17258784 2007