rs121909211, TGFBI

N. diseases: 15
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Corneal Dystrophy, Lattice Type IIIA
0.010 GeneticVariation BEFREE In our study, thirty patients from five pedigrees and ten sporadic patients were diagnosed as four TGFBI gene-linked corneal dystrophies of granular corneal dystrophy type I (GGCD I), Avellino corneal dystrophy (ACD), lattice corneal dystrophy type I (LCD I), and lattice corneal dystrophy type IIIA (LCD IIIA), and in total, seven disease-causing mutations, namely R555W, A546D, A546T, and T538P mutations in exon 12, R124H and R124C mutations in exon 4, and P501T mutation in exon 11, were identified, while four polymorphisms of V327V, L472L, F540F, and 1665-1666insC were screened in exons 8, 11, and 12. 21462384 2011
Plaque, Amyloid
CUI: C2936349
Disease: Plaque, Amyloid
0.010 GeneticVariation BEFREE A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation. 21447988 2011
Corneal deposit
CUI: C0162281
Disease: Corneal deposit
0.010 GeneticVariation BEFREE Our results demonstrate that both granular and lattice corneal deposits can be associated with R124C mutation in addition to the more common R124H mutation. 20697279 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE The finding of R124H in the Middle Eastern (Iranian) population supports the proposal that perhaps only substitution of histidine for arginine at position 124 of tumour growth factor beta induced protein results in the Avellino corneal dystrophy phenotype. 18290950 2008
Thiel-Behnke corneal dystrophy
CUI: C1562894
Disease: Thiel-Behnke corneal dystrophy
0.010 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
Stromal Dystrophies, Corneal
CUI: C0038457
Disease: 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
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.010 GeneticVariation BEFREE Herein, we studied the corneas with mutations at kerato-epithelin residue Arg-124 resulting in amyloid (R124C), non-amyloid (R124L), and a mixed pattern of deposition (R124H). 10753964 2000
Corneal guttata
CUI: C0271288
Disease: Corneal guttata
0.020 GeneticVariation BEFREE We report, for the first time, atypical granular corneal dystrophy type 2 with cornea guttata associated with a single R124H mutation in a Chinese family. 30871369 2019
Corneal guttata
CUI: C0271288
Disease: Corneal guttata
0.020 GeneticVariation BEFREE Corneal guttata associated with the corneal dystrophy resulting from a betaig-h3 R124H mutation. 10611102 2000
Familial Amyloid Polyneuropathy, Type V
0.030 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
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
Familial Amyloid Polyneuropathy, Type V
0.030 GeneticVariation BEFREE The incidence of mutations was ranked as follows: 118 patients (72%), the R124H mutation associated with Avellino corneal dystrophy; 23 patients (14%), the R124C mutation associated with lattice corneal dystrophy type 1; and 10 patients (6%), the P501T mutation associated with lattice corneal dystrophy type 3A. 11024425 2000
Lattice corneal dystrophy Type I
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
0.040 GeneticVariation BEFREE The fact that the 43-kDa protein fragment was present primarily in R124C and R124H but not in WT implicates its potential role in the protein deposits of LCD. 21948648 2011
Dystrophy, granular
CUI: C0544848
Disease: Dystrophy, granular
0.040 GeneticVariation BEFREE Three patients with "atypical granular" dystrophy later diagnosed as Avellino dystrophy were heterozygous for the R124H mutation. 17982422 2007
Dystrophy, granular
CUI: C0544848
Disease: Dystrophy, granular
0.040 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
Lattice corneal dystrophy Type I
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
0.040 GeneticVariation BEFREE In exon 4, an R124H mutation associated with Avellino corneal dystrophy (ACD) was found in 39/44 families (86.4%) and an R124C mutation associated with lattice corneal dystrophy type 1 (LCD1) was detected in 2/44 families (4.5%). 12225829 2002
Dystrophy, granular
CUI: C0544848
Disease: Dystrophy, granular
0.040 GeneticVariation BEFREE We identified mutations R124C in the CDL1 family and R124H in four families with a granular dystrophy. 11685063 2001
Lattice corneal dystrophy Type I
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
0.040 GeneticVariation BEFREE Six patients with Avellino corneal dystrophy (ACD) associated with R124H, one patient with superficial granular corneal dystrophy (SGCD) associated with R124L, and seven patients with lattice corneal dystrophy type 1 (CDL1) associated with R124C were examined. 11262611 2000
Lattice corneal dystrophy Type I
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
0.040 GeneticVariation BEFREE The incidence of mutations was ranked as follows: 118 patients (72%), the R124H mutation associated with Avellino corneal dystrophy; 23 patients (14%), the R124C mutation associated with lattice corneal dystrophy type 1; and 10 patients (6%), the P501T mutation associated with lattice corneal dystrophy type 3A. 11024425 2000
Dystrophy, granular
CUI: C0544848
Disease: Dystrophy, granular
0.040 GeneticVariation BEFREE Arg124His mutation of the betaig-h3 gene was found in a pedigree with granular dystrophy. 9603385 1998
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
0.100 GeneticVariation BEFREE Multiple phototherapeutic keratectomy treatments in a Chinese pedigree with corneal dystrophy and an R124L mutation: a 20-year observational study. 31438893 2019
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
0.100 GeneticVariation BEFREE It is our intention to demonstrate that the pre-operative genetic screening for TGFBI mutations should be mandatory for refractive surgery candidates.Patients and MethodsIn this study, we reviewed the proband's post-LASIK slit-lamp and in vivo confocal microscopy images and genetic testing results, and performed genetic testing on eleven additional members of the family to investigate the penetrance of corneal dystrophy in asymptomatic members who carry the mutation.ResultsThe proband demonstrated a post-LASIK exacerbation of Granular Corneal Dystrophy type 2 (GCD2), identified as a TGFBI R124H mutation. 29192679 2018
Granular Dystrophy, Corneal
CUI: C0018179
Disease: Granular Dystrophy, Corneal
0.100 GeneticVariation BEFREE The family with the R124H mutation was diagnosed with granular corneal dystrophy type 2. 28358433 2017
Granular Dystrophy, Corneal
CUI: C0018179
Disease: Granular Dystrophy, Corneal
0.100 GeneticVariation BEFREE R124H mutation is the most prominent mutation type among GCD outpatients in Eastern China. 28377594 2017
Granular Dystrophy, Corneal
CUI: C0018179
Disease: Granular Dystrophy, Corneal
0.100 GeneticVariation BEFREE To correct genetic defects in GCD patient cells, we designed a disease-specific guide RNA (gRNA) targeting the R124H mutation of TGFBI, which causes GCD type 2 (GCD2). 29196743 2017