Human | ALS2CL | 259173 | ALS2 C-terminal like | These results suggest that amyotrophic lateral sclerosis 2 C-terminal like (ALS2CL), a novel ALS2 homologue, modulates Rab5-mediated endosome dynamics in HeLa cells |
Human | GRIN3B | 116444 | glutamate receptor, ionotropic, N-methyl-D-aspartate 3B | We tested whether genetic dysfunction of GRIN3B is implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS) |
Human | BTBD10 | 84280 | BTB (POZ) domain containing 10 | BTBD10 appears to behave as a suppressor of cell death including neuronal cell death related to amyotrophic lateral sclerosis and an enhancer of cell growth via its positive regulation of Akt phosphorylation |
Human | ALS2 | 57679 | amyotrophic lateral sclerosis 2 (juvenile) | Allelic disorder to juvenile-onset amyotrophic lateral sclerosis (ALS2, {205100}) Title:Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis.|Association:Not Found|Conclusion:These results suggest that deletion mutations in ALS2 gene detected in ALS2 patients seem to be uncommon in Japanese AR-ALS, and that SNPs in uncoding regions might possibly be relevant to predisposition to ALS. |
Human | RTN4 | 57142 | reticulon 4 | The alteration in Nogo gene expression in muscle biopsy represents a potential diagnostic tool for the early stages of amyotrophic lateral sclerosis The presence of Nogo-A in diseased human muscle biopsies is not limited to amyotrophic lateral sclerosis |
Human | FGGY | 55277 | FGGY carbohydrate kinase domain containing | Variants of FLJ10986 may confer susceptibility to sporadic ALS (amyotrophic lateral sclerosis) |
Human | TRPM7 | 54822 | transient receptor potential cation channel, subfamily M, member 7 | Amyotrophic lateral sclerosis |
Human | VPS54 | 51542 | vacuolar protein sorting 54 homolog (S. cerevisiae) | mutations in VPS54 are not a major cause of ALS (amyotrophic lateral sclerosis) |
Human | ANKRD1 | 27063 | ankyrin repeat domain 1 (cardiac muscle) | These findings suggest that type-specific expression patterns of ARPP and CARP are altered in skeletal muscles of amyotrophic lateral sclerosis |
Human | RNF19A | 25897 | ring finger protein 19A, E3 ubiquitin protein ligase | These results suggest that Dorfin plays a crucial role in the formation of ubiquitylated inclusions of alpha-synucleinopathy and amyotrophic lateral sclerosis |
Human | TARDBP | 23435 | TAR DNA binding protein | Click here to display 9 evidence detail records. |
Human | SETX | 23064 | senataxin | Missense Mutations in senataxin is associated with juvenile amyotrophic lateral sclerosis |
Human | PARK7 | 11315 | parkinson protein 7 | A novel homozygous mutation in exon 7 (E163K) and a new homozygous mutation (g.168_185dup) in the promoter region of the gene of parkinsonism-dementia-amyotrophic lateral sclerosis complex |
Human | CCS | 9973 | copper chaperone for superoxide dismutase | No causative mutations for amyotrophic lateral sclerosis (ALS) gene have been detected in the CCS gene in 20 sporadic ALS patients analyzed, but an intragenic single nucleotide polymorphism has been identified |
Human | VAPB | 9217 | VAMP (vesicle-associated membrane protein)-associated protein B and C | Mutations in the VAPB gene are rare and the Delta S160 variant does not contribute to the development of amyotrophic lateral sclerosis |
Human | VGF | 7425 | VGF nerve growth factor inducible | Application of neurosecretory protein VGF biomarker model to current diagnostic criteria provides an objective biomarker pattern that identifies patients with amyotrophic lateral sclerosis |
Human | VEGFA | 7422 | vascular endothelial growth factor A | there was an important association between the polymorphism of the VEGF gene and age of amyotrophic lateral sclerosis (ALS) onset The reduction in vegf expression seen in amyotrophic lateral sclerosis did not detect any mutations in the regulatory or coding regions of VEGF in amyotrophic lateral sclerosis Title:VEGF promoter haplotype and amyotrophic lateral sclerosis (ALS).|Association:Not Found|Conclusion:We found a 3-fold increased risk among individuals homozygous for the AAG or AGG haplotypes (95%CI = 0.7 - 13.4), consistent with the findings of the previous study. Given the wide confidence interval, our findings should be interpreted cautiously. VEGF transgenic mice show delayed motor neuron loss and prolonged survival in an animal model of amyotrophic lateral sclerosis VEGF is a modifier of motoneuron degeneration in amyotrophic lateral sclerosis |
Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | Title:Amyotrophic Lateral Sclerosis, Lead, and Genetic Susceptibility: Polymorphisms in thedelta-Aminolevulinic Acid Dehydratase and Vitamin D Receptor Genes|Association:Not Found|Conclusion:These findings suggest that genetic susceptibility conferred by polymorphisms in (italic)ALAD(/italic) may affect ALS risk, possibly through a mechanism related to internal lead exposure. |
Human | TRPM2 | 7226 | transient receptor potential cation channel, subfamily M, member 2 | A variant of the transient receptor potential melastatin 2 (TRPM2) gene may confer susceptibility to parkinsonism-dementia and amyotrophic lateral sclerosis |
Human | TNFRSF1B | 7133 | tumor necrosis factor receptor superfamily, member 1B | The increase of plasma TNF-alpha in amyotrophic lateral sclerosis (ALS) patients in the presence of a slight increase of sTNFR-1 & -2 supports a functionally significant activation of the TNF system in ALS |
Human | TIMP3 | 7078 | TIMP metallopeptidase inhibitor 3 | TIMP-3 is an upstream mediator of neuronal apoptosis and likely contributes to neuronal loss in neurodegenerative diseases such as amyotrophic lateral sclerosis |
Human | TIMP1 | 7076 | TIMP metallopeptidase inhibitor 1 | Levels of TIMP-1 were significantly elevated in cerebrospinal fluid samples from all disease groups: Parkinson's, amyotrophic lateral sclerosis, and Huntington's and Alzheimer's disease |
Human | SOD1 | 6647 | superoxide dismutase 1, soluble | Click here to display 39 evidence detail records. |
Human | SNCA | 6622 | synuclein, alpha (non A4 component of amyloid precursor) | Data show that the pathological deposits with antibodies against synuclein alpha has involved in the neuropathogenesis of the amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam |
Human | SMN2 | 6607 | survival of motor neuron 2, centromeric | Title:Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis.|Association:Not Found|Conclusion:An abnormal SMN1 gene locus may be a susceptibility factor for amyotrophic lateral sclerosis. |