| Gene |
Chromosome |
Location |
Syndrome |
| ACP5 | 19 | p13.2 | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) |
| ASXL3 | 18 | q12.1 | Thyroid disorders |
| CCDC6 | 10 | q21.2 | Thyroid disorders |
| CHEK2 | 22 | q12.1 | Thyroid disorders |
| CRYM | 16 | p12.2 | Thyroid disorders |
| CTLA4 | 2 | q33.2 | Hashimoto thyroiditis |
| DCAF17 | 2 | q31.1 | Woodhouse-Sakati syndrome |
| DICER1 | 14 | q32.13 | Thyroid disorders |
| DUOX2 | 15 | q21.1 | Congenital hypothyroidism |
| DUOXA2 | 15 | q21.1 | Congenital hypothyroidism |
| ERC1 | 12 | p13.33 | Thyroid disorders |
| FCRL3 | 1 | q23.1 | Thyroid disorders |
| FNLB | 3 | p14.3 | Thyroid disorders |
| FOXE1 | 9 | q22.33 | Thyroid disorders |
| FSHB | 11 | p14.1 | Thyroid disorders |
| GLIS3 | 9 | p24.2 | Congenital hypothyroidism |
| HABP2 | 10 | q25.3 | Thyroid disorders |
| HLA-DRB1 | 6 | p21.32 | Hashimoto thyroiditis |
| HR | 8 | p21.3 | Thyroid disorders |
| HRAS | 11 | p15.5 | Thyroid disorders |
| IYD | 6 | q25.1 | Congenital hypothyroidism |
| KCNJ18 | 17 | p11.2 | Thyroid disorders |
| MED17 | 11 | q21 | Thyroid disorders |
| MED23 | 6 | q23.2 | Thyroid disorders |
| MIR2861 | 9 | q34.11 | Thyroid disorders |
| NCOA2 | 8 | q13.3 | Thyroid disorders |
| NCOA4 | 10 | q11.22 | Thyroid disorders |
| NKX2-1 | 14 | q13.3 | Brain-lung-thyroid syndrome |
| NKX2-5 | 5 | q35.1 | Congenital hypothyroidism |
| NNT | 5 | p12 | Thyroid disorders |
| NR0B2 | 1 | p36.11 | Thyroid disorders |
| NR4A2 | 2 | q24.1 | Thyroid disorders |
| NR4A3 | 9 | q31.1 | Thyroid disorders |
| NTRK1 | 1 | q23.1 | Thyroid disorders |
| P4HB | 17 | q25.3 | Thyroid disorders |
| PAX8 | 2 | q14.1 | Congenital hypothyroidism |
| PCM1 | 8 | p22 | Thyroid disorders |
| PNPLA2 | 11 | p15.5 | Neutral lipid storage disease with myopathy |
| PSMC3IP | 17 | q21.2 | Thyroid disorders |
| PTEN | 10 | q23.31 | Thyroid disorders |
| PTPN11 | 12 | q24.13 | Thyroid disorders |
| PTPN22 | 1 | p13.2 | Thyroid disorders |
| RARB | 3 | p24.2 | Thyroid disorders |
| RET | 10 | q11.21 | Thyroid disorders |
| RFN139 | 8 | q24.13 | Thyroid disorders |
| RPL7A | 9 | q34.2 | Thyroid disorders |
| SCGB3A2 | 5 | Q32 | Thyroid disorders |
| SDHB | 1 | p36.13 | Thyroid disorders |
| SDHD | 11 | q23.1 | Thyroid disorders |
| SECISBP2 | 9 | q22.2 | Thyroid disorders |
| SEPSECS | 4 | p15.2 | Thyroid disorders |
| SERPINA7 | 23 | q22.3 | Inherited thyroxine-binding globulin deficiency |
| SLC16A2 | 23 | q13.2 | Allan-Herndon-Dudley syndrome |
| SLC26A4 | 7 | q22.3 | Congenital hypothyroidism |
| SLC5A5 | 19 | p13.11 | Congenital hypothyroidism |
| SMARCAL1 | 2 | q35 | Schimke immuno-osseous dysplasia |
| TBC1D24 | 16 | p13.3 | Thyroid disorders |
| TG | 8 | q24.22 | Congenital hypothyroidism |
| THADA | 2 | p21 | Thyroid disorders |
| THRA | 17 | q21.1 | Congenital hypothyroidism |
| TPO | 2 | p25.3 | Congenital hypothyroidism |
| TRH | 3 | q22.1 | Hypothalamic hypothyroidism |
| TRHR | 8 | q23.1 | Congenital hypothyroidism |
| TRIP11 | 14 | q32.12 | Thyroid disorders |
| TRIP13 | 5 | p15.33 | Thyroid disorders |
| TRIP4 | 15 | q22.31 | Thyroid disorders |
| TSHB | 1 | p13.2 | Congenital hypothyroidism |
| TSHR | 14 | q31.1 | Congenital hypothyroidism |
| WRN | 8 | p12 | Thyroid disorders |
| ZFAT | 8 | q24.22 | Thyroid disorders |