SORL1, sortilin related receptor 1, 6653

N. diseases: 103; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.040 Biomarker disease BEFREE The sorting protein-related receptor 1 (SORL1 or LR11) gene has been verified to play an important role in the pathologic process of β-amyloid () formation and trafficking in Alzheimer's Disease (AD) by plenty of cytological and molecular biological studies. 27177090 2016
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.040 Biomarker disease BEFREE Proteins encoded by SORL1 and ACE have been shown to be related to the processing, trafficking, and degradation of Amyloid-β, the principal component of senile plaques. 20625269 2015
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.040 Biomarker disease BEFREE Emerging data suggests that SORL1 contributes to AD through various pathways, including emerging as a central regulator of the trafficking and processing of amyloid precursor protein (APP), involvement in destruction, and interaction with ApoE and tau protein. 24833601 2015
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.040 Biomarker disease BEFREE We propose that LR11 regulates APP processing and Abeta accumulation in vivo and is of proximal importance to the cascade of pathological amyloidosis. 19036982 2008