rs121909209, TGFBI

N. diseases: 9
Disease: Thiel-behnke ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thiel-behnke
CUI: C4700127
Disease: Thiel-behnke
0.020 GeneticVariation BEFREE Finally, the Bowman's layer CD was linked to the association in cis of the p.Met502Val and p.Arg555Gln variants, leading to the reclassification of this CD as atypical Thiel-Behnke CD. 21617751 2011
Thiel-behnke
CUI: C4700127
Disease: Thiel-behnke
0.020 GeneticVariation BEFREE A R555W heterozygous mutation was detected in five patients with granular Groenouw type I corneal dystrophy and a R555Q heterozygous mutation was found in four patients clinically diagnosed with Reis-Bücklers (one patient) and Thiel-Behnke (three patients) dystrophy. 17982422 2007