SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.050 Biomarker disease BEFREE Both groups were assessed for disease severity (MDS-UPDRS), cognition (NIH Toolbox® cognition battery, Trail Making Test), psychological symptoms (Hospital Anxiety and Depression Scale, MDS-UPDRS-I) and QoL (PDQ-39, MDS-UPDRS-II). 31561398 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.050 GeneticVariation disease BEFREE We evaluated the two groups with Montreal Cognitive Assessment (MoCA), Mini Mental Status Examination (MMSE), Frontal Assessment Batter (FAB), Beck Depression Index (BDI-II), REM Sleep Behavior Disorder Single-Question Screen (RBD1Q), MDS-UPDRS items related to axial disability and freezing. 30309805 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.050 Biomarker disease BEFREE Higher severity of constipation correlated with older age (r = 0.728, P < 0.001), higher MDS-UPDRS total score (r = 0.285, P < 0.001), worse postural instability (r = 0.190, P = 0.012), rapid eye movement sleep behaviour disorder (r = 0.228, P < 0.0001) and depression (r = 0.187, P = 0.024). 29078029 2018
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.050 GeneticVariation disease BEFREE The following patients' characteristics were measured: disease severity (MDS-UPDRS); cognitive status (MoCA); non-motor signs (NMSS); quality of life (PDQ-8); anxiety and depression (HADS); and levodopa equivalent dose. 30032927 2018
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.050 Biomarker disease BEFREE A stepwise regression model predicting the MDS-UPDRS part II score identified the Hoehn and Yahr stage, followed by the number of sleep-related symptoms (PD-SP, EDS and pRBD), disease duration, MDS-UPDRS part III score, PIGD subtype, depression and MDS-UPDRS part IV score as significant predictors. 28847794 2017