| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Exome sequencing identifies FUS mutations as a cause of essential tremor. | 22863194 | 2012 |
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|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. | 24908169 | 2014 |
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|
G | 0.700 | CausalMutation | CLINVAR | Activity-dependent FUS dysregulation disrupts synaptic homeostasis. | 25324524 | 2014 |
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|
G | 0.700 | CausalMutation | CLINVAR | Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq. | 23577159 | 2013 |
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|
G | 0.700 | CausalMutation | CLINVAR | ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation. | 24204307 | 2013 |
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|
G | 0.700 | CausalMutation | CLINVAR | FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. | 22055719 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. | 20577002 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. | 20668259 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. | 20606625 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. | 19251627 | 2009 |
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|
0.700 | GeneticVariation | UNIPROT | |||||||
|
T | 0.700 | CausalMutation | CLINVAR |