p(HGNC:SNCA, var("p.Ala53Glu")) increases path(MESH:"Parkinson Disease")

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PubMed:28803412

the point mutation in SNCA (A53T) was demonstrated to cause autosomal dominant Parkinson’s disease [126] and several other point mutations (A30P, E46K, H50Q, G51D and A53E) have since been shown to cause familial forms of Parkinson’s disease and dementia with Lewy bodies (DLB) [4, 79, 84, 119, 129, 167].

Related Edges 6

• p(HGNC:SNCA, var("p.Ala30Pro")) increases path(MESH:"Parkinson Disease")
• p(HGNC:SNCA, var("p.Ala30Pro")) increases path(MESH:"Lewy Body Disease")
• p(HGNC:SNCA, var("p.Ala53Thr")) increases path(MESH:"Parkinson Disease")
• p(HGNC:SNCA, var("p.Glu46Lys")) increases path(MESH:"Parkinson Disease")
• p(HGNC:SNCA, var("p.Gly51Asp")) increases path(MESH:"Parkinson Disease")
• p(HGNC:SNCA, var("p.His50Gln")) increases path(MESH:"Parkinson Disease")

Confidence

Medium

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