Source: CLINVAR

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 17 2 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 1 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 0 1 1979 2018
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		disease 0.100 None 0 1
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		G protein subunit beta 1 0.617 0.731 1.00
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		disease 0.100 None 0 1
Entrez Id: 81027
Gene Symbol: TUBB1
TUBB1 		tubulin beta 1 class VI 0.780 0.385 1.0E-07
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		disease 0.100 None 0 3