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: C0497327
Disease: Dementia
Dementia
0.020 Biomarker disease BEFREE The MDS-UPDRS balance-gait measure, excluding freezing of gait, was the single best predictor not only of concurrent cognitive impairment and dementia (F = 37.16, p < 0.001) but also of NMS burden, predicting 29% of the MDS-UPDRS total non-motor experiences of daily living score (F = 67.14, p < 0.0001). 30124451 2018
CUI: C0497327
Disease: Dementia
Dementia
0.020 GeneticVariation disease BEFREE AChE: acetylcholinesterase; AD: Alzheimer disease; DLB: dementia with Lewy bodies; ET: essential tremor; MDS-UPDRS: Movement Disorder Society-sponsored Unified Parkinson's Disease Rating Scale; MMSE: Mini-Mental State Examination; PD: Parkinson disease; PDD: Parkinson disease dementia. 28911255 2018