SLC29A3, solute carrier family 29 member 3, 55315

N. diseases: 123; N. variants: 21
Disease: Dysosteosclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432262
Disease: Dysosteosclerosis
Dysosteosclerosis 		0.330 GeneticVariation disease BEFREE Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1. 30537558 2019
CUI: C0432262
Disease: Dysosteosclerosis
Dysosteosclerosis 		0.330 GeneticVariation disease BEFREE SLC29A3 mutations have been reported as the causal gene in two DOS families, however, genetic heterogeneity has been suggested. 29568001 2018
CUI: C0432262
Disease: Dysosteosclerosis
Dysosteosclerosis 		0.330 GeneticVariation disease BEFREE Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. 22875837 2012
CUI: C0432262
Disease: Dysosteosclerosis
Dysosteosclerosis 		0.330 GermlineCausalMutation disease ORPHANET