Congenital hypothyroidism
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Congenital Hypothyroidism | C0010308 | NKX2-5 | |
| FOXE1 | 24219130 | ||
| GATA6 | |||
| GNB1 | |||
| IGSF1 | 23143598 | ||
| MC2R | |||
| PDE4D | |||
| POU1F1 | 16060904 | ||
| PRKAR1A | |||
| STAR | |||
| TG | 27525530 | ||
| THRA | |||
| NKX2-1 | 11854319 | ||
| TPO | 12564727, 17381485, 14751036, 16187919, 27166716 | ||
| TSHB | 27362444 | ||
| TSHR | 24895636, 11442002, 28455095, 12629076, 27084275, 15693879, 22405933, 19158199, 27637299, 26709262, 23404215, 28444304, 21677043, 27525530, 19506388, 21707688, 21714469, 23926367, 17526952 | ||
| KDM6A | |||
| PAX8 | 9590296 | ||
| KMT2D | |||
| TXNRD2 | |||
| ADNP | |||
| NNT | |||
| DUOX2 | 16322276, 27166716, 16134168 | ||
| CDCA8 | 29546359 | ||
| MRAP | |||
| TBC1D24 | |||
| TUBB1 | |||
| TRAPPC9 | |||
| ADAMTSL1 | |||
| B3GLCT | |||
| GLIS3 | 16715098 | ||
| IYD | 18765512 | ||
| HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS | C1869118 | PAX8 | 9590296, 11502839, 11232006 |
| PAX8-AS1 |