rs104893877, SNCA

N. diseases: 59
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.100 GeneticVariation BEFREE The mutation-specific postsynaptic effects caused by human A53T α-synuclein will help us better understand the neurobiological basis of this specific form of familial PD. 30249789 2018
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.100 GeneticVariation BEFREE Concurrently, intracerebral injection of pathological alpha-synuclein into transgenic mice overexpressing human wild-type alpha-synuclein, or human alpha-synuclein with the familial A53T mutation, or into wild-type mice causes spreading of alpha-synuclein pathology in the CNS. 26612754 2015
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.100 GeneticVariation BEFREE The A53T mutation in the SNCA gene, although uncommon, does represent a cause of PD in the Greek population, especially of familial EOPD with autosomal dominant inheritance. 24313877 2014
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.100 GeneticVariation BEFREE Genetic studies have revealed that rare point mutations in the gene encoding α-synuclein including A30P, A53T, and E46K are associated with familial forms of PD, indicating a pathological role for mutant α-synuclein in PD etiology. 24833599 2014
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.100 GeneticVariation BEFREE Clinical, neuropathological and genotypic variability in SNCA A53T familial Parkinson's disease. Variability in familial Parkinson's disease. 18389263 2008
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.100 GeneticVariation BEFREE A30P and A53T mutations of the presynaptic protein alpha-synuclein are associated with familial forms of Parkinson disease. 16020550 2005
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.100 GeneticVariation BEFREE We report here the immunohistochemical, biochemical and ultrastructural characterization of alpha-syn neuropathology in a case of familial PD with the A53T alpha-syn gene mutation. 15144854 2004
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.100 GeneticVariation BEFREE Missense mutations (A30P and A53T) in alpha-synuclein and the overproduction of the wild-type protein cause familial forms of Parkinson's disease and dementia with Lewy bodies. 15498564 2004
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.100 GeneticVariation BEFREE To better understand the pathogenic relationship between alterations in the biology of alpha-Syn and PD-associated neurodegeneration, we generated multiple lines of transgenic mice expressing high levels of either wild-type or familial PD-linked Ala-30 --> Pro (A30P) or Ala-53 --> Thr (A53T) human alpha-Syns. 12084935 2002
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.100 GeneticVariation BEFREE The familial Parkinson's disease associated mutations of alpha-synuclein (Ala53Thr and Ala30Pro) also demonstrate a strong interaction between their C-terminal regions and synphilin-1. 11331421 2001
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.100 GeneticVariation BEFREE Two missense mutations (Ala-30 --> Pro and Ala-53 --> Thr) in the gene encoding alpha-synuclein are associated with rare autosomal dominant forms of familial Parkinson's disease. 10722726 2000
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.100 GeneticVariation BEFREE alpha-Synuclein is a key component of Lewy bodies found in the brains of patients with Parkinson's disease and two point mutations in this protein, Ala53Thr and Ala30Pro, are associated with rare familial forms of the disease. 10799759 2000
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.100 GeneticVariation BEFREE The presynaptic protein alpha-synuclein is a prime suspect for contributing to Lewy pathology and clinical aspects of diseases, including Parkinson's disease, dementia with Lewy bodies, and a Lewy body variant of Alzheimer's disease. alpha-Synuclein accumulates in Lewy bodies and Lewy neurites, and two missense mutations (A53T and A30P) in the alpha-synuclein gene are genetically linked to rare familial forms of Parkinson's disease. 10934251 2000