Disease Risk Allele 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 Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare. 11095060 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
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 The R124H keratoepithelin mutation is the same mutation recently reported to be responsible for Avellino corneal dystrophy. 9727418 1998
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 CausalMutation CLINVAR
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 CausalMutation CLINVAR
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.900 GeneticVariation UNIPROT