Locus | Disease/trait | Species | Gene # | Length (kb) | Variants Built | Publications |
---|---|---|---|---|---|---|
ACE2 | COVID-19 | H. sapiens | 1 | 115-180 | 2 | Zhang et al., Nature 2023 |
CACNA1C | Schizophrenia | H. sapiens | 1 | 150 | 0 | |
CLU | Alzheimer Disease | H. sapiens | 2 | 111 | 2 | |
Mole gene | Mammalian Intersexuality | T. occidentalis | 1 | 120 | 1 | |
Fly TAD | Transcriptional Regulation | D. melanogaster | 1 | 100 | 4 | |
H19/Igf2 | Enhancer Selectivity | M. musculus | 2 | 157 | 47 | Ordoñez et al., Mol Cell 2024 |
HBA1 (α-globin) | Alpha-Thalassemia | M. musculus | 1 | 90 | 29 | |
HoxA (rat) | Embryonic Development | R. norvegicus | 11 | 170 | 32 | Pinglay,Bulajic et al., Science 2022 |
HoxA (mouse) | Embryonic Development | M. musculus | 11 | 170 | 2 | |
HPRT1 | Lesch-Nyhan Syndrome | H. sapiens | 1 | 101 | 1 | Mitchell et al., Genetics 2021 |
HPRT1R | Genomes default state | n/a | 1 | 101 | 1 | Camellato et al., Nature 2024 |
HTRA1 | Age-Related Macular Degeneration | H. sapiens | 2 | 119 | 148+ | Laurent et al., Precision Clinical Medicine 2019 |
IRF5 | Systemic Lupus Erythematosus | H. sapiens | 1 | 37-104 | 18 | |
NKX6-3/ANK1 | Type 2 Diabetes | H. sapiens | 2 | 52 | 2 | |
Pax6 | Eye Development | T. rubripes (Fugu) | 3 | 82 | 0 | |
RET | Hirschsprung Disease | H. sapiens | 1 | 60-179 | 4 | |
Sox2 | Embryonic Development | M. Musculus | 1 | 41-142 | 83 | Brosh, Laurent et al., PNAS 2021; Brosh et al., Mol Cell 2023 |
Synthetic Locus | Transcriptional Regulation | M. Musculus | n/a | 53-180 | 0 | |
TAF1 | X-linked dystonia-parkinsonism | H. sapiens | 1 | 77 | 4 | |
TMPRSS2 | COVID-19 | H. sapiens | 1 | 80 | 1 | Zhang et al., Nature 2023 |
Trp53 | Cancer | M. musculus | 1 | 22-115 | 5 | Zhang et al., Nature 2023 |
TP53 | Cancer | H. sapiens | 2 | 47 | 1 | |
Xist | X chromosome inactivation | M. Musculus | 1 | 25-200 | 5 |