PAX8, paired box 8, 7849

N. diseases: 253; N. variants: 24
Disease: Agenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 Biomarker disease BEFREE In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with Müllerian agenesis in a MRKH I and hypothyroidism. 31731040 2019
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 GeneticVariation disease BEFREE Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations. 20302910 2010