rs121909208, TGFBI

N. diseases: 13
Disease: Groenouw corneal dystrophy type I (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Groenouw corneal dystrophy type I (disorder)
CUI: C1641846
Disease: Groenouw corneal dystrophy type I (disorder)
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
Groenouw corneal dystrophy type I (disorder)
CUI: C1641846
Disease: Groenouw corneal dystrophy type I (disorder)
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
Groenouw corneal dystrophy type I (disorder)
CUI: C1641846
Disease: Groenouw corneal dystrophy type I (disorder)
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
Groenouw corneal dystrophy type I (disorder)
CUI: C1641846
Disease: Groenouw corneal dystrophy type I (disorder)
0.850 CausalMutation CLINVAR
Groenouw corneal dystrophy type I (disorder)
CUI: C1641846
Disease: Groenouw corneal dystrophy type I (disorder)
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
Groenouw corneal dystrophy type I (disorder)
CUI: C1641846
Disease: Groenouw corneal dystrophy type I (disorder)
0.850 GeneticVariation UNIPROT TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. 15623763 2005
Groenouw corneal dystrophy type I (disorder)
CUI: C1641846
Disease: Groenouw corneal dystrophy type I (disorder)
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