SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
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 		0.400 GermlineCausalMutation disease ORPHANET Most likely the thyroid defect of the two homozygous SLC26A4 gene mutation carriers represents a kind of secondary thyroid atrophy, rather than a primary defect of thyroid development in the sense of thyroid agenesis. 24248179 2014
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		0.400 Biomarker disease HPO