p(HGNC:PSEN1, var("p.Gly183Val")) causesNoChange a(CHEBI:"amyloid-beta")

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PubMed:26751493

A PSEN1 mutation causes a Pick’s disease phenotype including FTD tau pathology without deposition of Abeta [145]; some MAPT single nucleotide polymorphisms have also been linked to sporadic Parkinson’s disease (PD, [146]);

Related Edges 8

• g(DBSNP:rs242557) association path(MESH:"Parkinson Disease")
• g(DBSNP:rs2471738) association path(MESH:"Parkinson Disease")
• p(HGNC:PSEN1, var("p.Gly183Val")) positiveCorrelation path(MESH:"Frontotemporal Dementia")
• p(HGNC:PSEN1, var("p.Gly183Val")) positiveCorrelation path(MESH:"Niemann-Pick Diseases")
• path(MESH:"Frontotemporal Dementia") positiveCorrelation p(HGNC:PSEN1, var("p.Gly183Val"))
• path(MESH:"Niemann-Pick Diseases") positiveCorrelation p(HGNC:PSEN1, var("p.Gly183Val"))
• path(MESH:"Parkinson Disease") association g(DBSNP:rs2471738)
• path(MESH:"Parkinson Disease") association g(DBSNP:rs242557)

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If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.

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