Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		0.800 Biomarker GENOMICS_ENGLAND An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis. 22989030

2013
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		0.800 Biomarker GENOMICS_ENGLAND Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. 22875837

2012
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		0.800 Biomarker GENOMICS_ENGLAND SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. 19336477

2009
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		0.800 Biomarker GENOMICS_ENGLAND The H syndrome is caused by mutations in the nucleoside transporter hENT3. 18940313

2008
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		0.800 Biomarker GENOMICS_ENGLAND Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. 9545394

1998
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		0.800 Biomarker GENOMICS_ENGLAND