Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation BEFREE Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2. 26197481 2016
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation BEFREE One mutation, generating an arginine to histidine amino acid substitution at position 124 in mature TGFBIp leads to granular corneal dystrophy type 2 (GCD2). 26864644 2016
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation BEFREE R124H mutation was detected in all patients with GCD2. 25034048 2015
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation BEFREE Genetic examination identified that two ACD subjects were associated with homozygous R124H mutation of TGFBI, and four LCD I subjects were all associated with R124C heterozygous mutation. 21887843 2012
Avellino corneal dystrophy
CUI: C1275685
Disease: 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
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation BEFREE We describe the phenotypic range of GCD2 heterozygotes for the common R124H mutation in TGFBI; seven with an extremely mild phenotype and six with an extremely severe phenotype. 22815629 2012
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation BEFREE Primary culture corneal fibroblasts were isolated from the corneas of healthy subjects and patients with granular corneal dystrophy type 2 (GCD2) with a homozygous mutation in TGFBI R124H. 21310903 2011
Avellino corneal dystrophy
CUI: C1275685
Disease: 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
Avellino corneal dystrophy
CUI: C1275685
Disease: 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 2011
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 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
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation BEFREE Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy. 18465714 2008
Avellino corneal dystrophy
CUI: C1275685
Disease: 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
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation BEFREE In Avellino corneal dystrophy (Arg124His mutation of human transforming growth factor beta-induced gene [TGFBI]), highly reflective granular materials with irregular edges were observed in the superficial stroma. 17846354 2007
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation BEFREE Screening of TGFBI exons 4 and 12 revealed the Arg124His mutation associated with CGLCD. 17317389 2007
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 CausalMutation CLINVAR 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
CUI: C1275685
Disease: 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
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 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
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation UNIPROT BIGH3 mutation spectrum in corneal dystrophies. 11923233 2002
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation BEFREE We report that the majority (90%) of ACD patients in Korea carry the R124H mutation. 11685063 2002
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 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 2001
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation UNIPROT Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene. 11297504 2001
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation BEFREE Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare. 11095060 2001
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation UNIPROT Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. 11024425 2000
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation BEFREE In 68 unrelated patients who had been diagnosed with GCD, 62 patients (91%) were found to have the R124H mutation, which has been reported to cause ACD, whereas only six patients (9%) had the R555W mutation. 10832717 2000
Avellino corneal dystrophy
CUI: C1275685
Disease: 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