| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.850 | GeneticVariation | BEFREE | The results suggested that the heterozygous <i>TGFBI</i> c.1663C > T (p.Arg555Trp) mutation was responsible for GCD1 in the Hui-Chinese family, which should be of great help in genetic counseling for this family. | 30915236 | 2019 |
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|
0.850 | GeneticVariation | BEFREE | The Arg555Trp and Thr538Pro mutations known to be associated with corneal dystrophy granular type I and lattice corneal dystrophy, respectively, were introduced with the two-sequential PCR site-directed mutagenesis technique. | 22605926 | 2012 |
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|
0.850 | GeneticVariation | BEFREE | The phenotype which resulted from the TGFBI R555W mutation in this family is distinct from that observed in the typical case of CDGG1. | 21264234 | 2011 |
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|
0.850 | GeneticVariation | BEFREE | A R555W heterozygous mutation was detected in five patients with granular Groenouw type I corneal dystrophy and a R555Q heterozygous mutation was found in four patients clinically diagnosed with Reis-Bücklers (one patient) and Thiel-Behnke (three patients) dystrophy. | 17982422 | 2007 |
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|
0.850 | GeneticVariation | UNIPROT | TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. | 15623763 | 2005 |
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0.850 | GeneticVariation | BEFREE | Segregation of Arg555Trp has been described as causing Groenouw type I corneal dystrophy of variable severity in patients of various ethnic backgrounds. | 11820303 | 2002 |
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|
T | 0.850 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. | 15623763 | 2005 |
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|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | A R555W heterozygous mutation was detected in five patients with granular Groenouw type I corneal dystrophy and a R555Q heterozygous mutation was found in four patients clinically diagnosed with Reis-Bücklers (one patient) and Thiel-Behnke (three patients) dystrophy. | 17982422 | 2007 |