Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
0.300 Biomarker disease CLINGEN Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy. 26975589 2016
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
0.300 Biomarker disease CLINGEN Treatment of genetic defects of thiamine transport and metabolism. 27191787 2016
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
0.300 Biomarker disease CLINGEN Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome. 24166474 2014
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
0.300 Biomarker disease CLINGEN Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. 27896110 2014
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
0.300 Biomarker disease CLINGEN Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. 24878502 2014
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
0.300 Biomarker disease CLINGEN Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy. 23469184 2013
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
0.300 Biomarker disease CLINGEN Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. 23589815 2013
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
0.300 Biomarker disease CLINGEN Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. 23482991 2013
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
0.300 Biomarker disease CLINGEN Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. 23423671 2013
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
0.300 Biomarker disease CLINGEN Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice. 19879271 2010