Table 2.
Genotype-phenotype databases used to download CTCF variant data.
| Source | Description | Version/release/last updated | Variant entries | Citation |
|---|---|---|---|---|
| AutDB | A reference for all known genes associated with ASD | September, 2022 | 25,393 | Pereanu et al., 2018 |
| EGIdb | Genetic variants from patients sequenced for epilepsy | v1 / October 03, 2017 | NA | Epilepsy Genetics, 2019 |
| DisGeNet | Collection of genes and variants associated with human diseases | v7.0 / June 2020 | 1,134,942 | Piñero et al., 2017 |
| Varicarta | Variants found in ASD and reported in peer-reviewed scientific literature | November 09, 2022 | 210,602 | Belmadani et al., 2019 |
| DECIPHER | Genomic variants of patients who have been evaluated in a clinic or are part of a research study | v11.17 / December 14, 2022 | 58,837 | Bragin et al., 2014 |
| LOVD | Database of genomic variants and phenotypes | v.3.0 / June 15, 2021 | 844,462 | Fokkema et al., 2021 |
| SFARI | Comprehensive reference of all known human genes associated with ASD from peer-reviewed journals | February 23, 2022 | 3,803 | Arpi and Simpson, 2022 |
| Denovo DB | De-novo variants identified in human genome | v.1.6.1 / August 19, 2018 | NA | Turner et al., 2017 |
| Gene4denovo | De novo mutations in humans | July 08, 2022 | 741,866 | Zhao et al., 2020 |
| ClinVar | Genetic variants and associated phenotypes | January 05, 2023 | 1,660,725 | Landrum et al., 2018 |
| DBD | Developmental Brain Disorder Gene Database | September 01, 2022 | 11,276 | Mirzaa et al., 2014 |