Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
thyroid stimulating hormone receptor 0.486 0.808 3.0E-15
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.900 strong 0.950 0 0 1996 2019
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
dual oxidase 2 0.533 0.769 4.5E-56
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.900 strong 0.976 0 0 2002 2019
Entrez Id: 7849
Gene Symbol: PAX8
PAX8
paired box 8 0.477 0.731 1.00
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.700 strong 1.000 0 0 1998 2019
Entrez Id: 2304
Gene Symbol: FOXE1
FOXE1
forkhead box E1 0.573 0.731 0.79
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.700 strong 1.000 0 0 2002 2017
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
NK2 homeobox 1 0.457 0.808 0.36
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.500 strong 1.000 0 0 1995 2014
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
GLIS family zinc finger 3 0.590 0.654 5.6E-08
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.500 strong 1.000 0 0 2006 2020
Entrez Id: 7252
Gene Symbol: TSHB
TSHB
thyroid stimulating hormone subunit beta 0.670 0.538 8.4E-03
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.400 strong 1.000 0 0 2017 2017
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
NK2 homeobox 5 0.533 0.692 0.95
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
lysine demethylase 6A 0.498 0.769 1.00
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
thioredoxin reductase 2 0.548 0.731 3.5E-11
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0
Entrez Id: 83696
Gene Symbol: TRAPPC9
TRAPPC9
trafficking protein particle complex 9 0.603 0.577 2.3E-14
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0
Entrez Id: 7067
Gene Symbol: THRA
THRA
thyroid hormone receptor alpha 0.566 0.769 0.33
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0
Entrez Id: 6770
Gene Symbol: STAR
STAR
steroidogenic acute regulatory protein 0.513 0.808 8.8E-11
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0
Entrez Id: 56246
Gene Symbol: MRAP
MRAP
melanocortin 2 receptor accessory protein 0.674 0.500 2.1E-03
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0
Entrez Id: 5144
Gene Symbol: PDE4D
PDE4D
phosphodiesterase 4D 0.519 0.846 1.00
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0
Entrez Id: 4158
Gene Symbol: MC2R
MC2R
melanocortin 2 receptor 0.582 0.654 3.1E-04
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
GATA binding protein 6 0.478 0.808 1.00
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0
Entrez Id: 23530
Gene Symbol: NNT
NNT
nicotinamide nucleotide transhydrogenase 0.601 0.577 0.97
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
beta 3-glucosyltransferase 0.554 0.731 7.1E-17
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0
Entrez Id: 92949
Gene Symbol: ADAMTSL1
ADAMTSL1
ADAMTS like 1 0.682 0.654 3.1E-12
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.100 None 0 0