SLC29A3, solute carrier family 29 member 3, 55315

N. diseases: 123; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912583
rs121912583
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. 21888995 2012
dbSNP: rs121912584
rs121912584
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. 21888995 2012
dbSNP: rs267607057
rs267607057
Entrez Id: 55315;105378353
Gene Symbol: SLC29A3;LOC105378353
SLC29A3;LOC105378353
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. 21888995 2012
dbSNP: rs267607058
rs267607058
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. 21888995 2012
dbSNP: rs387907066
rs387907066
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. 21888995 2012
dbSNP: rs387907067
rs387907067
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. 21888995 2012
dbSNP: rs121912583
rs121912583
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		A 0.800 CausalMutation CLINVAR Expanding the clinical spectrum of SLC29A3 gene defects. 20619369 2011
dbSNP: rs121912583
rs121912583
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of SLC29A3 gene defects. 20619369 2011
dbSNP: rs121912584
rs121912584
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of SLC29A3 gene defects. 20619369 2011
dbSNP: rs121912584
rs121912584
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		A 0.800 CausalMutation CLINVAR Expanding the clinical spectrum of SLC29A3 gene defects. 20619369 2011
dbSNP: rs267607057
rs267607057
Entrez Id: 55315;105378353
Gene Symbol: SLC29A3;LOC105378353
SLC29A3;LOC105378353
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of SLC29A3 gene defects. 20619369 2011
dbSNP: rs267607058
rs267607058
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of SLC29A3 gene defects. 20619369 2011
dbSNP: rs387907066
rs387907066
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of SLC29A3 gene defects. 20619369 2011
dbSNP: rs387907067
rs387907067
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of SLC29A3 gene defects. 20619369 2011
dbSNP: rs121912583
rs121912583
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. 20140240 2010
dbSNP: rs121912583
rs121912583
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. 19889517 2010
dbSNP: rs121912583
rs121912583
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. 20595384 2010
dbSNP: rs121912583
rs121912583
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Early-onset sensorineural hearing loss is a prominent feature of H syndrome. 20399510 2010
dbSNP: rs121912583
rs121912583
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT H syndrome: novel and recurrent mutations in SLC29A3. 20199539 2010
dbSNP: rs121912583
rs121912583
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		A 0.800 CausalMutation CLINVAR Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. 20595384 2010
dbSNP: rs121912584
rs121912584
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT H syndrome: novel and recurrent mutations in SLC29A3. 20199539 2010
dbSNP: rs121912584
rs121912584
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. 20595384 2010
dbSNP: rs121912584
rs121912584
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. 20140240 2010
dbSNP: rs121912584
rs121912584
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT Early-onset sensorineural hearing loss is a prominent feature of H syndrome. 20399510 2010
dbSNP: rs121912584
rs121912584
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1864445
Disease:
Histiocytosis with joint contractures and sensorineural deafness 		0.800 GeneticVariation UNIPROT The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. 19889517 2010