MYRF, myelin regulatory factor, 745

N. diseases: 102; N. variants: 44
Disease: Hyperopia, High ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High 		0.300 Biomarker phenotype GENOMICS_ENGLAND Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. 31048900 2019
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High 		0.300 Biomarker phenotype GENOMICS_ENGLAND Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF. 31700225 2019