1 => Disorder placed on map based on association with a gene; defect unknown
2 => Disorder placed by linkage; no mutation found
3 => Molecular basis known; mutation found in gene
4 => Contiguous gene deletion/duplication syndrome
| Gene Symbol | Chromosomal Location | Gene MIM number | Mapping Method | Phenotype | Phenotype MIM number | Phenotype Mapping Key |
| EPHX2 | 8p21.2-p21.1 | 132811 | A | {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3) | 143890 | 3 |