Genetic Modifiers and Rare Mendelian Disease
Abstract
:1. Introduction
2. Current State of Rare Disease Genetic Modifier Research
2.1. Oligogenicity and Genetic Modifiers
2.2. Genetic Modifier Studies in Literature
3. GWAS and Genetic Interactions
4. WGS Approach for Modifier Studies
5. Experimental Approaches to Detect Genetic Modifiers
5.1. Reverse Genetic Screens
5.2. Forward Genetic Screens
6. Prospects and Challenges of Computational Model in Modifier Identification
7. Discussion
Supplementary Materials
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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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 |
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Rahit, K.M.T.H.; Tarailo-Graovac, M. Genetic Modifiers and Rare Mendelian Disease. Genes 2020, 11, 239. https://doi.org/10.3390/genes11030239
Rahit KMTH, Tarailo-Graovac M. Genetic Modifiers and Rare Mendelian Disease. Genes. 2020; 11(3):239. https://doi.org/10.3390/genes11030239
Chicago/Turabian StyleRahit, K. M. Tahsin Hassan, and Maja Tarailo-Graovac. 2020. "Genetic Modifiers and Rare Mendelian Disease" Genes 11, no. 3: 239. https://doi.org/10.3390/genes11030239