rs28939688, OPTN

N. diseases: 7
Disease: Familial (FPAH) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.020 GeneticVariation BEFREE Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma. 23669351 2013
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.020 GeneticVariation BEFREE This study provides some additional evidence for the association of the Glu50Lys OPTN sequence variation with familial normal tension glaucoma. 14597044 2003