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: 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: 7173
Gene Symbol: TPO
TPO 		thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		disease 0.700 strong 1.000 17 13 1992 2016
Entrez Id: 7173
Gene Symbol: TPO
TPO 		thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.100 None 0 1
Entrez Id: 7173
Gene Symbol: TPO
TPO 		thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		phenotype 0.100 None 0 1
Entrez Id: 7173
Gene Symbol: TPO
TPO 		thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 7173
Gene Symbol: TPO
TPO 		thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 7173
Gene Symbol: TPO
TPO 		thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 7173
Gene Symbol: TPO
TPO 		thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 1