rs121909208, TGFBI

N. diseases: 13
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
0.010 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