SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Disease: Thyroid Hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.410 GeneticVariation disease BEFREE By exome sequencing we identified a homozygous missense mutation (p.Leu597Ser) in the SLC26A4 gene of a patient with hypoplastic thyroid tissue, who was otherwise healthy. 24248179 2014
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.410 GermlineCausalMutation disease ORPHANET By exome sequencing we identified a homozygous missense mutation (p.Leu597Ser) in the SLC26A4 gene of a patient with hypoplastic thyroid tissue, who was otherwise healthy. 24248179 2014
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.410 Biomarker disease HPO