SLC29A3, solute carrier family 29 member 3, 55315

N. diseases: 123; N. variants: 21
Disease: Skin Diseases, Genetic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		0.020 GeneticVariation group BEFREE H syndrome is an autosomal recessive genodermatosis with multisystem involvement caused by mutations in SLC29A3. 24172204 2014
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		0.020 Biomarker group BEFREE In 2008, SLC29A3 has been implicated in a syndromic form of genodermatosis: H syndrome. 21888995 2012