rs121909211, TGFBI

N. diseases: 15
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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
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