MYOC, myocilin, 4653

N. diseases: 79; N. variants: 51
Disease: Disorder of the optic nerve ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.120 GeneticVariation group BEFREE Both wild-type and certain myocilin variants containing mutations in the olfactomedin (OLF) domain are linked to the optic neuropathy glaucoma. 23129764 2012
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.120 Biomarker group BEFREE Peak intraocular pressure (IOP) did not differ significantly between the two groups of families, while linkage to GLC1A conferred a highly increased risk of developing OAG and of having severe glaucomatous optic neuropathy. 9222961 1997
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.120 Biomarker group HPO