SLC29A3, solute carrier family 29 member 3, 55315

N. diseases: 123; N. variants: 21
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker phenotype CTD_human Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. 20140240 2010