IFT43, intraflagellar transport 43, 112752
N. diseases: 84; N. variants: 28
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. | 25835445 | 2015 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. | 25835445 | 2015 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. | 25835445 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. | 25835445 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. | 26184463 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. | 24798638 | 2014 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. | 23824657 | 2013 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | TGF-β - an excellent servant but a bad master. | 22943793 | 2012 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Crystal structure of transforming growth factor-beta 2: an unusual fold for the superfamily. | 1631557 | 1992 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR |