Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.700 | GeneticVariation | GWASCAT | Genetics of heart rate in heart failure patients (GenHRate). | 31113495 | 2019 |
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0.700 | GeneticVariation | GWASCAT | Genetics of heart rate in heart failure patients (GenHRate). | 31113495 | 2019 |
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0.700 | GeneticVariation | GWASCAT | Genetics of heart rate in heart failure patients (GenHRate). | 31113495 | 2019 |
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C | 0.700 | CausalMutation | CLINVAR | NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. | 23553477 | 2013 |
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C | 0.700 | CausalMutation | CLINVAR | Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model. | 23828044 | 2013 |
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C | 0.700 | CausalMutation | CLINVAR | Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. | 22072591 | 2012 |
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C | 0.700 | CausalMutation | CLINVAR | Complex I deficiency: clinical features, biochemistry and molecular genetics. | 22972949 | 2012 |
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C | 0.700 | CausalMutation | CLINVAR | Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations. | 22826544 | 2012 |
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C | 0.700 | CausalMutation | CLINVAR | Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. | 22499348 | 2012 |
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C | 0.700 | CausalMutation | CLINVAR | The molecular basis of human complex I deficiency. | 21766414 | 2011 |
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C | 0.700 | CausalMutation | CLINVAR | High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. | 20818383 | 2010 |
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C | 0.700 | CausalMutation | CLINVAR | Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. | 19336460 | 2009 |
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C | 0.700 | CausalMutation | CLINVAR | Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I. | 19752196 | 2009 |
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C | 0.700 | CausalMutation | CLINVAR | The iron-sulphur protein Ind1 is required for effective complex I assembly. | 18497740 | 2008 |
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C | 0.700 | CausalMutation | CLINVAR | Clinical and molecular findings in children with complex I deficiency. | 15576045 | 2004 |
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C | 0.700 | CausalMutation | CLINVAR | Minimum birth prevalence of mitochondrial respiratory chain disorders in children. | 12805096 | 2003 |
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C | 0.700 | CausalMutation | CLINVAR | Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. | 10214753 | 1999 |
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C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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C | 0.700 | GeneticVariation | CLINVAR | Molecular diagnostic experience of whole-exome sequencing in adult patients. | 26633545 | 2016 |
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR |