SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Disease: Preauricular Fistulae, Congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0546969
Disease: Preauricular Fistulae, Congenital
Preauricular Fistulae, Congenital 		0.010 GeneticVariation disease BEFREE PDS mutations were found only in patients with enlarged vestibular aqueducts and EYA1 mutations were detected only in patients with ear pits and cervical fistulae, indicating that these two genes are associated with particular forms of middle and inner ear malformation. 11558900 2001