| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.820 | GeneticVariation | UNIPROT | LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. | 23666920 | 2013 |
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T | 0.820 | CausalMutation | CLINVAR | Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports. | 23497705 | 2013 |
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0.820 | GeneticVariation | UNIPROT | LMNA mutation in progeroid syndrome in association with strokes. | 21791255 | 2012 |
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0.820 | GeneticVariation | UNIPROT | Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24. | 22355414 | 2012 |
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0.820 | GeneticVariation | UNIPROT | Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes. | 19933576 | 2010 |
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0.820 | GeneticVariation | BEFREE | Homozygous mutation R527C in LMNA yields atypical HGPS, and it suggests an autosomal recessive inheritance in this family. | 19432833 | 2009 |
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0.820 | GeneticVariation | BEFREE | Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. | 18796515 | 2008 |
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0.820 | GeneticVariation | UNIPROT | p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. | 15622532 | 2005 |
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0.820 | GeneticVariation | UNIPROT | Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. | 15060110 | 2004 |
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0.820 | GeneticVariation | UNIPROT | Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. | 15286156 | 2004 |
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0.820 | GeneticVariation | UNIPROT | LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). | 12768443 | 2003 |
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0.820 | GeneticVariation | UNIPROT | Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. | 12714972 | 2003 |
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0.820 | GeneticVariation | UNIPROT | LMNA mutations in atypical Werner's syndrome. | 12927431 | 2003 |