PAX8, paired box 8, 7849

N. diseases: 253; N. variants: 24
Disease: Thyroid Agenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		0.110 GeneticVariation disease BEFREE We also revealed that the rate of NKX2.1, FOXE1, NKX2.5, and PAX8 mutations were low in patients with CH and athyreosis, in contrast to the higher rate of TSHR mutations. 28455095 2017
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		0.110 Biomarker disease HPO