|
Lattice corneal dystrophy Type I
|
|
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
Groenouw corneal dystrophy type I (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 --> Cys mutation in the kerato-epithelin gene. sgupta@ogh.on.ca.
|
9559741 |
1998 |
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
R124C and H626R mutations of TGFBI gene caused LCD in Vietnamese people.
|
12770961 |
2003 |
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied.
|
15623763 |
2005 |
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied.
|
15623763 |
2005 |
|
Granular Dystrophy, Corneal
|
|
0.020 |
GeneticVariation
|
BEFREE |
Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied.
|
15623763 |
2005 |
|
Corneal dystrophy
|
|
0.070 |
GeneticVariation
|
BEFREE |
R124C and R555W TGFBI mutations cause lattice and granular type I corneal dystrophies in the studied families.
|
17768377 |
2007 |
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I.
|
9886734 |
1999 |
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
A R124C mutation was detected in the patients with LCD type 1 (LCD1), L518P was in atypical LCDI, and L527R in LCD with opacities deep in stroma.
|
11095060 |
2000 |
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities.
|
9799082 |
1998 |
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.
|
14597039 |
2003 |
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.
|
17013691 |
2006 |
|
Thiel-Behnke corneal dystrophy
|
|
0.020 |
GeneticVariation
|
BEFREE |
All subjects recruited exhibited a range of corneal dystrophies, including Thiel-Behnke corneal dystrophy (TBCD, R555Q; 6 families and 4 individuals), granular corneal dystrophy type 2 (GCD2, R124H; 61 families and 80 individuals), lattice corneal dystrophy (LCD; 4 families and 5 individuals; 7 with type 1 [R124C], and 2 with a variant [L527R, P542R]).
|
22876129 |
2012 |
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.100 |
GeneticVariation
|
BEFREE |
All subjects recruited exhibited a range of corneal dystrophies, including Thiel-Behnke corneal dystrophy (TBCD, R555Q; 6 families and 4 individuals), granular corneal dystrophy type 2 (GCD2, R124H; 61 families and 80 individuals), lattice corneal dystrophy (LCD; 4 families and 5 individuals; 7 with type 1 [R124C], and 2 with a variant [L527R, P542R]).
|
22876129 |
2012 |
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Although a slit-lamp examination showed features of LCDI in most cases, the age at onset of the symptoms was several years later than that in cases of LCDI with an R124C mutation.
|
15838722 |
2005 |
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
Although a slit-lamp examination showed features of LCDI in most cases, the age at onset of the symptoms was several years later than that in cases of LCDI with an R124C mutation.
|
15838722 |
2005 |
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.
|
18615206 |
2008 |
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.
|
18470323 |
2008 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.030 |
GeneticVariation
|
BEFREE |
As far as the R124C mutation detected in 1 patient with clinically diagnosed Reis-Bucklers corneal dystrophy is concerned, we concluded that this patient was misdiagnosed.
|
15564760 |
2005 |
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.100 |
GeneticVariation
|
BEFREE |
Avellino dystrophy has not previously been reported to be associated with the R124C mutation, which is usually associated with lattice corneal dystrophy.
|
20458218 |
2010 |
|
Corneal dystrophy
|
|
0.070 |
GeneticVariation
|
BEFREE |
Codon 124 is a hot spot for kerato-epithelin mutations, where the mutations responsible for three autosomal dominant corneal dystrophies--lattice type I (Arg124Cys), Avellino (Arg124His), and the variant of RBCD with geographic rather than honeycomb opacities (Arg124Leu)--are located.
|
9780098 |
1998 |
|
Reis-Bucklers' corneal dystrophy
|
|
0.030 |
GeneticVariation
|
BEFREE |
Codon 124 is a hot spot for kerato-epithelin mutations, where the mutations responsible for three autosomal dominant corneal dystrophies--lattice type I (Arg124Cys), Avellino (Arg124His), and the variant of RBCD with geographic rather than honeycomb opacities (Arg124Leu)--are located.
|
9780098 |
1998 |
|
Corneal dystrophy
|
|
0.070 |
GeneticVariation
|
BEFREE |
Diagnoses included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD (CGCD/R555W) (28 eyes), superficial variant of granular dystrophy (SVGD/R124 l) (27 eyes), lattice CD type I (LCDI/R124C) (20 eyes), Avellino CD (ACD/R124H) (2 eyes), H626R-lattice dystrophy (LCD/H626R) (6 eyes), and two novel dystrophies: a French variant of granular dystrophy (FVGD/R124 l+DT125-DE126) (9 eyes) and a French lattice CD type IIIA (LCDIIIA/A546T) (5 eyes).
|
11927442 |
2002 |
|
Dystrophy, granular
|
|
0.020 |
GeneticVariation
|
BEFREE |
Diagnoses included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD (CGCD/R555W) (28 eyes), superficial variant of granular dystrophy (SVGD/R124 l) (27 eyes), lattice CD type I (LCDI/R124C) (20 eyes), Avellino CD (ACD/R124H) (2 eyes), H626R-lattice dystrophy (LCD/H626R) (6 eyes), and two novel dystrophies: a French variant of granular dystrophy (FVGD/R124 l+DT125-DE126) (9 eyes) and a French lattice CD type IIIA (LCDIIIA/A546T) (5 eyes).
|
11927442 |
2002 |