| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.800 | GeneticVariation | UNIPROT | Tibial muscular dystrophy in a Belgian family. | 12891679 | 2003 | |||||||
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0.800 | GeneticVariation | UNIPROT | Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. | 12145747 | 2002 | |||||||
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0.800 | GeneticVariation | UNIPROT | Tibial muscular dystrophy in a Belgian family. | 12891679 | 2003 | |||||||
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0.800 | GeneticVariation | UNIPROT | Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. | 12145747 | 2002 | |||||||
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0.730 | GeneticVariation | BEFREE | Sanger sequencing for the two previously described TTN mutations in HMERF (p.C30071R in the 119th fibronectin-3 (FN3) domain, and p.R32450W in the kinase domain) was performed in all patients. | 23486992 | 2014 | |||||||
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0.730 | GeneticVariation | BEFREE | This proves that the p.C30071R mutation itself (rather than the haplotype containing this mutation) causes hereditary myopathy with early respiratory failure and suggests its independent origin in different ethnic groups. | 24444549 | 2014 | |||||||
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0.730 | GeneticVariation | BEFREE | Coexisting cardiac and skeletal muscle involvement is not uncommon in patients with HMERF arising due to the c.951434T>C; (p.Cys31712Arg) TTN mutation. | 27511179 | 2016 | |||||||
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0.710 | GeneticVariation | BEFREE | The mutation predicts a His33378Pro change located next to the previously known Belgian TMD mutation. | 19911250 | 2010 | |||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | GWASCAT | Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples. | 28654678 | 2017 | |||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. | 11788824 | 2002 | |||||||
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0.700 | GeneticVariation | UNIPROT | Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy. | 16465475 | 2005 | |||||||
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0.700 | GeneticVariation | UNIPROT | Titin mutations as the molecular basis for dilated cardiomyopathy. | 11846417 | 2002 | |||||||
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0.700 | GeneticVariation | GWASCAT | Leveraging Polygenic Functional Enrichment to Improve GWAS Power. | 30595370 | 2019 | |||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT |