Hypothyroidism

Disease Term Disease ID Gene Symbol References
Hypothyroidism C0020676 ACP5
ADA
ADAR
ADCY7 30595370
AKT1
SLC25A4
APC
APOE
ABCC6
ARVCF
RERE
BUB1
BUB1B
FMNL1 30367059
CAMK4 30595370
CBLB 30595370
CD2 30595370
CD247 30595370
CD80 30595370
LRBA
CDH13 27182965
COL4A1
COMT
CP
NKX2-5
ELN
EXT2
FGF8
FGFR1
FOXI1
FOXE1
FLII
FLT3 30595370
FMR1
FUCA1
FYN 30595370
GABRD
GAS1
GATA1
GCH1
GLI2
GNAS
GNB1
GP1BB
GPC1
GTF2I
HBB
NRG1 27182965
HLA-DRB1 22493691
HNF4A
HPD
HSD17B3
IFNG
IGHGP 30595370
IGSF1
IL2RA 30595370
IL2RG
IL7R
IL12RB2 30595370
INPP5B 30595370
INSR 30595370, 27182965
IRF4 30595370
IRF5 30595370
ITK 30595370
JAK1 30595370
KARS1
KCNJ10
LIFR
LIG4
LIMK1
LPP 30595370
LRP4
MARS1
COX1
COX2
COX3
ND1
ND4
ND5
ND6
TRNF
TRNH
TRNL1
TRNL2
TRNN
TRNQ
TRNS1
TRNS2
TRNW
NFATC1 30595370
NFKB1 30595370
NODAL
NPHS1
OPA1
TNFRSF11B 30595370
ENPP1
SLC26A4
PIK3C2A
PIK3CA
PMM2
POLG 20220442, 23545419, 28837072
POU1F1
PROP1
PTCH1
PTEN
PTPN11 22493691
PVT1 30595370
RAB5B 30595370
RAB5C 30595370
RAD51B 30595370
RAG1
RAG2
RET
RFC2
RMRP
ROBO1
RREB1
SAA1
SALL1
SBF1 30595370
ATXN2 22493691, 30595370, 27182965, 30367059
SCN4A
SHH
SIX3
SKI
SKIV2L
SLC5A5
SLC16A2
SOX3
SRY
STAT1
STAT4 30595370
TBX1
HNF1B
TDGF1
TF
TG 27182965, 30595370
TGIF1
THRA
THRB
NKX2-1
TNFRSF1B 30595370
TPO 30367059, 30595370, 27182965
TRHR 9141550
TSC1
TSC2
TSHB 18031379, 24729111
TSHR
HIRA
TYK2 30595370
UFD1
CLIP2
WFS1
XRCC4
ZIC2
ALMS1
PAX8
KDM5C 26919706, 18697827
KCNAB2
BHLHE40 30595370
PDE8B 27182965, 30595370, 30367059
TP63 19903181
TNFRSF14 30595370
HESX1
CCN4 30595370
SGPL1
FOXH1
KYNU 28792876
BAZ1B
SH2D2A 30595370
BUB3
TRIP13
FADS2 30595370
MED7 30595370
EIF2AK3
MPDU1
GTF2IRD1
SEC24C
TTC37
CEP57
SEMA3E
ACAP1 30595370
PIEZO1
KEAP1 30595370
ELMO1 30595370
TRANK1 30595370
TANK 30595370
SH2B3 22493691, 30595370
GNE
DNM1L
RASGRP1 30595370
PLXNC1 30595370
STUB1
DLEU1 30595370
VAV3 22493691, 27182965, 30595370, 30367059
STK25 30595370
FBLN5
DEAF1
RNASEH2A
CD226 30595370
RAI1
NEK6 30595370
PDE10A 27182965, 30595370, 30367059
POLG2
TREX1
MYH15 30595370
IQSEC2
POGZ
ADNP
EXOSC2
GPR161
TMEM131 30595370
KAT6B 26938784
PIK3R5 30595370
PANX1 30595370
SAMHD1
DNAH1
PTPN22 22493691, 30595370, 27182965
TBL2
AGO2 30595370
DLL1
EFEMP2
RRM2B
DUOX2
CDON
FOXP3
TIMMDC1 30595370
SLC25A37 30595370
PHF21A
DACT1
PTRH2
SUFU
UBASH3A 30595370
MAGEL2
SLC66A1 30595370
PHIP
FANCI
STEAP3
SLC30A10 28860195
CHD7
RAB20 30595370
WDR11
BTNL2
LRRC8A 30595370
TWNK
ARID1B
PHRF1 30595370
PLEKHA1 30595370
BACH2 27182965, 30595370
ALX4
PRDM16
IFIH1
DCLRE1C
ALG8
RNASEH2B
SRD5A3
NAA25 30595370, 22493691
DCAF17
IQCN 30595370
CLPB
TRIM8
PLVAP
ITCH
RNASEH2C
ARID5B 30595370
MCM8
DISP1
PNPT1 30595370
LHX4
KCNH7 30595370
MACIR 30595370
C1QTNF6 30595370
IP6K3 30595370
CPT1C 30595370
EDARADD 30595370
PROKR2
TANGO2 26805781
DNAJC19
KCTD19 30595370
HJV
HORMAD2 30595370
ARL6IP6
MB21D2 30595370
UBR1
HIPK1 30595370
JMJD1C
SPATA13 30595370, 27182965
FGD2 30595370
FOXK1 30595370
RSBN1L 30595370
HECTD4 22493691
HCG22 22493691
LINC00299 30595370
IYD
C12orf76 30595370
DUOXA2
MICOS10 30367059, 27182965, 30595370
LINC01387 22493691
AHI1-DT 30595370
LINC01301 30595370
MIR3681HG 30595370
PCAT1 30595370
IFNG-AS1 30595370
LINC01934 30595370
LINC00824 30595370
PTCSC2 27182965, 22493691, 30367059, 30595370, 21981779
CASC19 30595370
LINC02357 30595370
LINC02621 30595370, 27182965
Hypothyroidism due to deficient transcription factors involved in pituitary development or function 226307 POU1F1
PROP1
HESX1
LHX3
LHX4
Hypothyroidism due to TSH receptor mutations 90673 TSHR
Primary Hypothyroidism C4316995 CTNS
DDOST
STAT1
TRHR 9141550
TSHB 24729111, 18031379
SLC30A10 28860195
Secondary hypothyroidism C3665349 BRAF
CTNNB1
GLI2
GLI3
LEP
LEPR
MEN1
NF2
OTX2
PCSK1
PDGFB
POMC
POU1F1
POU3F4
PROP1
SMARCB1
SOX2
SOX3
TRHR 9141550
TSHB 18031379, 12930599, 24729111, 20537182, 22851492
LHX3
HESX1
AIP
ARNT2
SUFU
RBM28
SLC30A10 28860195
CDH23
LHX4
TMEM67
HJV
SOX2-OT
Thyrotropin deficiency, isolated C4082174 TSHB 22851492, 20537182, 12930599