PAX8, paired box 8, 7849

N. diseases: 253; N. variants: 24
Disease: Congenital Hypothyroidism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775083174
rs775083174
Entrez Id: 7849;654433
Gene Symbol: PAX8;PAX8-AS1
PAX8;PAX8-AS1
CUI: C0010308
Disease:
Congenital Hypothyroidism 		0.010 GeneticVariation BEFREE PAX8 mutations in congenital hypothyroidism due to dysgenetic or orthotopic thyroid glands are rare.PAX8-T225M is probably a rare variant. 17437516 2007