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 |