| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Reis-Bucklers' corneal dystrophy
|
0.880 | GeneticVariation | BEFREE | The heterozygous c.371G > T (p.R124L) mutation was detected in exon 4 of the <i>TGFBI</i> gene in nine patients from the family with RBCD. | 30805211 | 2019 | |||||
Reis-Bucklers' corneal dystrophy
|
0.880 | GeneticVariation | BEFREE | For the three families, a single heterozygous c.371G>T (R124L) point mutation was found in exon 4 of TGFBI in 14 affected members with RBCD, a single heterozygous c.370C>T (R124C) point mutation was found in exon 4 of TGFBI in four affected members with LCDI, and a single heterozygous c.1877A>G (H626R) point mutation was found in exon 14 of TGFBI in four affected members with LCDI/IIIA. | 27348782 | 2016 | |||||
Reis-Bucklers' corneal dystrophy
|
0.880 | GeneticVariation | BEFREE | As the RBCD phenotype is usually associated with an R124L mutation, this novel genotype-phenotype correlation may prompt further investigation of Bowman's layer corneal dystrophy. | 22906289 | 2012 | |||||
Reis-Bucklers' corneal dystrophy
|
0.880 | GeneticVariation | BEFREE | A p.Arg124Leu mutation of the TGFBI gene was detected in this Chinese pedigree with Reis-Bücklers corneal dystrophy. | 21899585 | 2012 | |||||
Reis-Bucklers' corneal dystrophy
|
0.880 | GeneticVariation | BEFREE | Therefore, along with G623D and R124L, the R124C mutation in TGFBI is also found to be responsible for RBCD. | 20360992 | 2010 | |||||
Reis-Bucklers' corneal dystrophy
|
0.880 | GeneticVariation | BEFREE | The R124L mutation was shown to be causative of Reis-Bucklers corneal dystrophy in 2 families. | 18259096 | 2008 | |||||
Reis-Bucklers' corneal dystrophy
|
0.880 | GeneticVariation | BEFREE | Two patients from one pedigree (a 29-year-old woman and 58-year-old man) with Thiel-Behnke corneal dystrophy (Arg555Gln [R555Q] heterozygous missense mutation of human transforming growth factor beta-induced [TGFBI] gene) and 3 patients from one pedigree (a 70-year-old woman, 58-year-old man, and 14-year old man) with Reis-Bücklers corneal dystrophy (Arg124Leu [R124L] heterozygous missense mutation of the TGFBI gene) were examined. | 17198850 | 2007 | |||||
Reis-Bucklers' corneal dystrophy
|
0.880 | GeneticVariation | UNIPROT | In GCD, 18 patients with GCD type I had a mutation of arginine 555-to-tryptophan (Arg555Trp) and 1 patient with GCD type III (Reis-Bucklers dystrophy), had the Arg124Leu mutation. | 15623763 | 2005 | |||||
Reis-Bucklers' corneal dystrophy
|
0.880 | GeneticVariation | UNIPROT | A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online. | 10660331 | 1998 | |||||
Reis-Bucklers' corneal dystrophy
|
0.880 | GeneticVariation | UNIPROT | Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy. | 9780098 | 1998 | |||||
Reis-Bucklers' corneal dystrophy
|
0.880 | GeneticVariation | BEFREE | On the other hand, a new kerato-epithelin mutation, Arg124Leu, was found to cause the RBCD variant characterized by recurrent epithelial erosions and progressive geographic subepithelial opacification. | 9780098 | 1998 | |||||
Reis-Bucklers' corneal dystrophy
|
0.880 | CausalMutation | CLINVAR |