|
Avellino corneal dystrophy
|
|
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
Avellino corneal dystrophy
|
|
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Reis-Bucklers' corneal dystrophy
|
|
0.880 |
CausalMutation
|
CLINVAR |
|
|
|
|
Corneal guttata
|
|
0.020 |
GeneticVariation
|
BEFREE |
Corneal guttata associated with the corneal dystrophy resulting from a betaig-h3 R124H mutation.
|
10611102 |
2000 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Avellino corneal dystrophy associated with the R124H mutation is the most common form of corneal stromal dystrophy in Japan.
|
11024425 |
2000 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Avellino corneal dystrophy (ACD) is a common corneal dystrophy that shows allelic homogeneity, R124H mutation in the transforming growth factor beta-induced (TGFBI) gene.
|
17096061 |
2007 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant disease caused by a R124H point mutation in the transforming growth factor-β-induced gene (TGFBI).
|
22374302 |
2012 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Granular corneal dystrophy type 2 (GCD2) is caused by a point mutation (R124H) in the transforming growth factor β-induced (TGFBI) gene.
|
27373828 |
2016 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
R124H mutation was detected in all patients with GCD2.
|
25034048 |
2015 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
R124H mutation is the most prominent mutation type among GCD outpatients in Eastern China.
|
28377594 |
2017 |
|
Dystrophy, granular
|
|
0.040 |
GeneticVariation
|
BEFREE |
Arg124His mutation of the betaig-h3 gene was found in a pedigree with granular dystrophy.
|
9603385 |
1998 |
|
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
|
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 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
A novel R124L mutation of the BIGH3 gene was associated in this family with a superficial variant of granular corneal dystrophy.
|
9930165 |
1999 |
|
Plaque, Amyloid
|
|
0.010 |
GeneticVariation
|
BEFREE |
A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation.
|
21447988 |
2011 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
All 34 patients with the R124L mutation displayed the clinical, histologic, and electron microscopic features of the dystrophy previously described as a superficial variant of corneal granular dystrophy.
|
10889112 |
2000 |
|
Corneal dystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
All five patients with the severe form of corneal dystrophy had homozygous R124H keratoepithelin mutations.
|
9727418 |
1998 |
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.030 |
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 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
An unusual clinical phenotype of Avellino corneal dystrophy associated with an Arg124His beta iG-H3 mutation in an African-American woman.
|
15059726 |
2004 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Another heterozygous mutation G>A (R124H) was found in exon 4 of TGFBI in affected members of family B and C with GCD2.
|
21311742 |
2011 |
|
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 |
|
Corneal dystrophy
|
|
0.100 |
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 |
|
Stromal Dystrophies, Corneal
|
|
0.010 |
GeneticVariation
|
BEFREE |
Avellino corneal dystrophy associated with the R124H mutation is the most common form of corneal stromal dystrophy in Japan.
|
11024425 |
2000 |
|
Avellino corneal dystrophy
|
|
0.900 |
GeneticVariation
|
BEFREE |
Both granular and lattice deposits are present in Avellino corneal dystrophy (ACD), primarily associated with the R124H mutation of transforming growth factor-β-induced (TGFBIp).
|
20697279 |
2010 |