rs1417210
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
0.010
GeneticVariation
BEFREE
We identified three susceptibility loci, 12q13.2 (rs10876864, P(combined)=8.07 × 10(-12), odds ratio (OR)=1.18), 11q23.3 (rs638893, P(combined)=2.47 × 10(-9), OR=1.22), and 10q22.1 (rs1417210 , P(combined)=1.83 × 10(-8), OR=0.88), and confirmed three previously reported loci for vitiligo , 3q28 (rs9851967, P(combined)=8.57 × 10(-8), OR=0.88), 10p15.1 (rs3134883, P(combined)=1.01 × 10(-5), OR=1.11), and 22q12.3 (rs2051582, P(combined)=2.12 × 10(-5), OR=1.14), in the Chinese Han population.
22951725
2013
rs12256138
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Depressive disorder
0.010
GeneticVariation
BEFREE
Our major finding herein was, among women, the association of SLC29A3 polymorphism rs12256138 with depressive disorder (p=0.0004, odds ratio=0.68, 95% CI 0.55-0.84, p<0.05 after Bonferonni correction for multiple testing).
20392501
2010
rs1084004
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Polysomnography
A
0.700
GeneticVariation
GWASDB
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23251661
2012
rs1430557607
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.700
GeneticVariation
UNIPROT
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
21888995
2012
rs1430557607
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.700
GeneticVariation
UNIPROT
Expanding the clinical spectrum of SLC29A3 gene defects.
20619369
2011
rs1430557607
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.700
GeneticVariation
UNIPROT
Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.
20595384
2010
rs1430557607
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.700
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
rs1430557607
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.700
GeneticVariation
UNIPROT
The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.
19889517
2010
rs1430557607
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.700
GeneticVariation
UNIPROT
H syndrome: novel and recurrent mutations in SLC29A3.
20199539
2010
rs1430557607
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.700
GeneticVariation
UNIPROT
Early-onset sensorineural hearing loss is a prominent feature of H syndrome.
20399510
2010
rs1430557607
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.700
GeneticVariation
UNIPROT
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
19336477
2009
rs1430557607
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.700
GeneticVariation
UNIPROT
The H syndrome is caused by mutations in the nucleoside transporter hENT3.
18940313
2008
rs1023257012
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.700
GeneticVariation
UNIPROT
rs267607056
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
T
0.700
CausalMutation
CLINVAR
rs397514626
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
C
0.700
CausalMutation
CLINVAR
rs397515429
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
A
0.700
CausalMutation
CLINVAR
rs587780462
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
T
0.700
CausalMutation
CLINVAR
rs587780463
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
A
0.700
CausalMutation
CLINVAR
rs746408350
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
T
0.700
CausalMutation
CLINVAR
rs776960135
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
A
0.700
CausalMutation
CLINVAR
rs796052139
SLC29A3;LOC105378353
Histiocytosis with joint contractures and sensorineural deafness
C
0.700
CausalMutation
CLINVAR
rs869025176
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
T
0.700
CausalMutation
CLINVAR
rs869025177
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
C
0.700
CausalMutation
CLINVAR
rs121912584
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
A
0.800
CausalMutation
CLINVAR
H syndrome: 5 new cases from the United States with novel features and responses to therapy.
29041934
2017
rs121912583
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
A
0.800
CausalMutation
CLINVAR
Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome.
24894595
2015