SORL1, sortilin related receptor 1, 6653

N. diseases: 103; N. variants: 29
Disease: Alzheimer Disease, Early Onset ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.080 GeneticVariation disease BEFREE Pathogenic variants in the autosomal dominant genes PSEN1, PSEN2, or APP, APOE4 alleles, and rare variants within TREM2, SORL1, and ABCA7 contribute to early-onset Alzheimer's disease (EOAD). 31381512 2019
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.080 Biomarker disease BEFREE Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient. 29480197 2018
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.080 Biomarker disease BEFREE Furthermore, this study identified shared risk genes between EOAD and LOAD similar to previously reported genes, such as SORL1, PSEN2, and TREM2. 28738127 2017
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.080 GeneticVariation disease BEFREE Here, we investigated these 11 SORL1 variants identified in European EOAD and LOAD risk in individuals of European ancestry using a large-scale LOAD GWAS. 28527213 2017
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.080 GeneticVariation disease BEFREE A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease. 27026413 2016
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.080 GeneticVariation disease BEFREE We conclude that predicted damaging rare SORL1 variants are a strong risk factor for EOAD and that the association signal is mainly driven by cases with positive family history. 26303663 2016
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.080 GeneticVariation disease BEFREE High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. 22472873 2012
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.080 Biomarker disease BEFREE Our results confirm the association of SORL1 with AD and show a possible effect of female sex, suggesting that this gene may be a promising susceptibility factor for LOAD. 19822782 2009