rs121909209, TGFBI

N. diseases: 9
Disease: Groenouw corneal dystrophy type I (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Groenouw corneal dystrophy type I (disorder)
CUI: C1641846
Disease: Groenouw corneal dystrophy type I (disorder)
0.010 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