Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
0.340 Biomarker disease BEFREE SORL1 Variants in Familial Alzheimer's Disease. 29376855 2018
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
0.340 GeneticVariation disease BEFREE Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene. 28595629 2017
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
0.340 GeneticVariation disease BEFREE Lysosomal sorting of amyloid-β by the SORLA receptor is impaired by a familial Alzheimer's disease mutation. 24523320 2014
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
0.340 GermlineCausalMutation disease ORPHANET High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. 22472873 2012
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
0.340 AlteredExpression disease BEFREE LR11/SorLA expression is reduced in sporadic Alzheimer disease but not in familial Alzheimer disease. 16957580 2006