|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
H63D HFE polymorphisms increase the risk of neurodegenerative disorders and, specifically, may increase amyotrophic lateral sclerosis (ALS) risk.
|
23813494 |
2013 |
|
rs759504704
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations ([c.969T>A; p.Tyr323*] + [c.1142A>G; p.Asn381Ser]) result in mitochondrial respiratory chain deficiency and Leigh syndrome, which is a neurodegenerative disease characterized by symmetric, bilateral lesions in the basal ganglia, thalamus, and brain stem.
|
25807530 |
2015 |
|
rs75932628
|
|
|
0.070 |
GeneticVariation |
BEFREE |
A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, i.e. frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD).
|
25936935 |
2015 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represented in neurodegenerative disorders such as amyotrophic lateral sclerosis and Alzheimer disease.
|
21349849 |
2011 |
|
rs1424266770
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represented in neurodegenerative disorders such as amyotrophic lateral sclerosis and Alzheimer disease.
|
21349849 |
2011 |
|
rs1272951905
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additional homozygous variants were identified, including the risk allele p.Arg261His in NEK1, as well as variants in genes known to be associated with other neurodegenerative diseases, such as HTT (Huntington's disease), ATM (Ataxia-Telangiectasia), and ZFYVE26 (SPG15), and variants in genes previously reported as upregulated (LZTS3) or downregulated (ARMC4, CFAP54, and MTHFSD) in ALS patients.
|
31108397 |
2019 |
|
rs200161705
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additional homozygous variants were identified, including the risk allele p.Arg261His in NEK1, as well as variants in genes known to be associated with other neurodegenerative diseases, such as HTT (Huntington's disease), ATM (Ataxia-Telangiectasia), and ZFYVE26 (SPG15), and variants in genes previously reported as upregulated (LZTS3) or downregulated (ARMC4, CFAP54, and MTHFSD) in ALS patients.
|
31108397 |
2019 |
|
rs771845093
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additional homozygous variants were identified, including the risk allele p.Arg261His in NEK1, as well as variants in genes known to be associated with other neurodegenerative diseases, such as HTT (Huntington's disease), ATM (Ataxia-Telangiectasia), and ZFYVE26 (SPG15), and variants in genes previously reported as upregulated (LZTS3) or downregulated (ARMC4, CFAP54, and MTHFSD) in ALS patients.
|
31108397 |
2019 |
|
rs2275294
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that primarily affects motor neurons and has no effective treatment.Recently, Iida et al. identified a single-nucleotide polymorphism (SNP) rs2275294 in the ZNF512B gene that is significantly associated with susceptibility to ALS in the Japanese population.
|
26668144 |
2015 |
|
rs1265011107
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia.
|
31444388 |
2019 |
|
rs537742207
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia.
|
31444388 |
2019 |
|
rs66468541
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia.
|
31444388 |
2019 |
|
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
At the cellular level, the HFE mutant protein resulting from the H63D HFE gene variant is associated with iron dyshomeostasis, increased oxidative stress, glutamate release, tau phosphorylation, and alteration in inflammatory response, each of which is under investigation as a contributing factor to neurodegenerative diseases.
|
21346098 |
2011 |
|
rs3857059
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Besides other known mutations in the SNCA gene, the rs3857059 variant has also been linked to various neurodegenerative disorders.
|
27332068 |
2016 |
|
rs587777606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Celia's encephalopathy (progressive encephalopathy with/without lipodystrophy (PELD)) is a childhood neurodegenerative disorder with a fatal prognosis before the age of 10, due to the variant c.985C>T in the BSCL2 gene that causes a cryptic splicing site leading to skipping of exon 7.
|
30903322 |
2019 |
|
rs72824905
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Concluding, rs72824905-G has a protective effect against multiple neurodegenerative diseases indicating shared aspects of disease etiology.
|
31131421 |
2019 |
|
rs104894201
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CryAB R120G causes perinuclear formation of aggresomes containing preamyloid oligomer intermediates, which are wellknown as a primary toxic species in neurodegenerative disease.
|
22040875 |
2011 |
|
rs74315401
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Due to the cerebellar ataxia in the early stage, GSS P102L is often misdiagnosed as other neurodegenerative disorders.
|
29509064 |
2018 |
|
rs3173615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Eighty-six deceased male athletes with a history of participation in American football, informant-reported Caucasian, and a positive postmortem diagnosis of CTE without comorbid neurodegenerative disease were genotyped for rs3173615.
|
30390709 |
2018 |
|
rs28933979
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP) ATTRV30M is a neurodegenerative disorder due to point mutations in the transthyretin gene, with V30M being the commonest.
|
26286643 |
2016 |
|
rs63750376
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further clinical-genetic investigation showed a positive family history of FTD-like dementia and suggested that Gly183Val is associated with a phenotypically heterogeneous neurodegenerative disorder.
|
15122701 |
2004 |
|
rs63751068
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further clinical-genetic investigation showed a positive family history of FTD-like dementia and suggested that Gly183Val is associated with a phenotypically heterogeneous neurodegenerative disorder.
|
15122701 |
2004 |
|
rs267606900
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, we propose the structural basis for the N478D mutation that drastically reduces the length of poly(A) tails on mitochondrial mRNAs in patients with spastic ataxia 4 (SPAX4), a severe and progressive neurodegenerative disease.
|
26319014 |
2015 |
|
rs1178466848
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic forms show a striking variability in their clinical and neuropathological picture and can sometimes mimic other neurodegenerative diseases.We report a novel PRNP mutation (V189I) in four CJD patients from three unrelated pedigrees.
|
30606247 |
2019 |
|
rs74315408
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders.
|
27341347 |
2016 |