Disease: Congenital Hypothyroidism ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.010 GeneticVariation BEFREE A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. 11502839 2001