Table 1.
Modifier gene for the rare Mendelian disorder found in the Online Mendelian Inheritance in Man (OMIM) database.
| OMIM | Modifier Gene | Disease | PhenoModifier Gene ID |
|---|---|---|---|
| 107670 | APOA2 | Hypercholesterolemia, familial | - |
| 108733 | ATP2B2 | Deafness, autosomal recessive 12 | 491 |
| 112261 | BMP2 | HFE hemochromatosis | - |
| 120353 | MMP1 | Epidermolysis bullosa dystrophica | 4312 |
| 132811 | EPHX2 | Hypercholesterolemia due to LDLR defect | - |
| 147570 | IFNG | TSC2 angiomyolipomas | 3458 |
| 155555 | MC1R | Albinism, oculocutaneous, type II | 4157 |
| 168461 | CCND1 | von Hippel-Lindau syndrome | - |
| 190180 | TGFB1 | Cystic fibrosis lung disease | 7040 |
| 600451 | AKR1C4 | 46XY sex reversal 8 | - |
| 600837 | GDNF | Pheochromocytoma | 2668 |
| 600946 | GHR | Hypercholesterolemia | - |
| 601627 | SMN2 | Spinal muscular atrophy | 6607 |
| 602421 | CFTR | Bronchiectasis with or without elevated sweat chloride 1 | 1080 |
| 603415 | SCN9A | Dravet syndrome | 6335 |
| 605204 | TOR1A | Dystonia-1, torsion | 1861 |
| 608124 | XYLT1 | Pseudoxanthoma elasticum | 64131 |
| 608125 | XYLT2 | Pseudoxanthoma elasticum | 64132 |
| 608845 | ARL6 | Bardet-Biedl syndrome 1 | - |
| 609884 | TMEM67 | Bardet-Biedl syndrome 14 | - |
| 610162 | CCDC28B | Bardet-Biedl syndrome 1 | 79140 |
| 610230 | TRMU | Deafness, mitochondrial | 55687 |
| 611089 | MTMR14 | Centronuclear myopathy | - |
| 612971 | PDZD7 | Retinal disease in Usher syndrome type | 79955 |