Disease Term Disease ID Gene Symbol References
Thyroid Hypoplasia C0151516 NKX2-5
GLI3
SLC26A4 24248179
TCOF1
TSHR 25153578, 27525530
PAX8 25146893, 11502839, 11232006, 9590296
POLR1C
KAT6B
POLR1D
ADAMTSL1