NGS and Other Studies Related Gene List
- We collected all the low scale candidate gene studies in the dataset, including case report, mutation screen, gene function studies and some other low scale studies but not association studies.
- According to the number of positive studies, genes in the dataset are scored by 5, 4, 3, 2, 1 and 0. The higher the score, the more confident the gene is. (More information about the dataset)
| Gene ID | Gene Symbol | Band | Gene Name | Candidate Gene Studies | Score | |
|---|---|---|---|---|---|---|
| Positive | Negative | |||||
| AutG84059 | ADGRV1 | 5q13 | G protein-coupled receptor 98 | 1 | 0 | 1 |
| AutG8912 | CACNA1H | 16p13.3 | calcium channel, voltage-dependent, T type, alpha 1H subunit | 1 | 0 | 1 |
| AutG1977 | EIF4E | 4q23 | eukaryotic translation initiation factor 4E | 1 | 0 | 1 |
| AutG79718 | TBL1XR1 | 3q26.32 | transducin (beta)-like 1 X-linked receptor 1 | 1 | 0 | 1 |
| AutG10295 | BCKDK | 16p11.2 | branched chain ketoacid dehydrogenase kinase | 1 | 0 | 1 |
| AutG31 | ACACA | 17q12 | acetyl-CoA carboxylase alpha | 1 | 0 | 1 |
| AutG10347 | ABCA7 | 19p13.3 | ATP-binding cassette, sub-family A (ABC1), member 7 | 1 | 0 | 1 |
| AutG7204 | TRIO | 5p15.2 | triple functional domain (PTPRF interacting) | 1 | 0 | 1 |
| AutG2131 | EXT1 | 8q24.11 | exostosin 1 | 1 | 0 | 1 |
| AutG26056 | RAB11FIP5 | 2p13.2 | RAB11 family interacting protein 5 (class I) | 1 | 0 | 1 |
| AutG54584 | GNB1L | 22q11.21 | guanine nucleotide binding protein (G protein), beta polypeptide 1-like | 1 | 0 | 1 |
| AutG6323 | SCN1A | 2q24.3 | sodium channel, voltage-gated, type I, alpha subunit | 1 | 0 | 1 |
| AutG3786 | KCNQ3 | 8q24.22 | potassium voltage-gated channel, KQT-like subfamily, member 3 | 1 | 0 | 1 |
| AutG114788 | CSMD3 | 8q23.3 | CUB and Sushi multiple domains 3 | 1 | 0 | 1 |
| AutG2558 | GABRA5 | 15q12 | gamma-aminobutyric acid (GABA) A receptor, alpha 5 | 1 | 0 | 1 |
| AutG157680 | VPS13B | 8q22.2 | vacuolar protein sorting 13 homolog B (yeast) | 1 | 0 | 1 |
| AutG10522 | DEAF1 | 11p15.5 | deformed epidermal autoregulatory factor 1 (Drosophila) | 1 | 0 | 1 |
| AutG11141 | IL1RAPL1 | Xp21.3-p21.2 | interleukin 1 receptor accessory protein-like 1 | 1 | 1 | 1 |
| AutG3752 | KCND3 | 1p13.2 | potassium voltage-gated channel, Shal-related subfamily, member 3 | 1 | 0 | 1 |
| AutG22941 | SHANK2 | 11q13.3-q13.4 | SH3 and multiple ankyrin repeat domains 2 | 1 | 0 | 1 |