Source: GENOMICS_ENGLAND

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 1 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 1 0 2002 2019
Entrez Id: 7173
Gene Symbol: TPO
TPO
thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.900 strong 1.000 1 0 1979 2018
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 1 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 1 0 2002 2017
Entrez Id: 7038
Gene Symbol: TG
TG
thyroglobulin 0.480 0.808 2.9E-59
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.600 strong 1.000 1 0 1986 2019
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 1 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 1 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 1 0 2017 2017
Entrez Id: 389434
Gene Symbol: IYD
IYD
iodotyrosine deiodinase 0.700 0.500 4.1E-03
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.340 strong 1.000 1 0 2003 2017
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1
POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.320 strong 1.000 1 0 1995 2005
Entrez Id: 55143
Gene Symbol: CDCA8
CDCA8
cell division cycle associated 8 0.659 0.500 7.2E-03
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease 0.300 moderate 1.000 1 0 2018 2018