Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.340 Biomarker CLINGEN Treatment of genetic defects of thiamine transport and metabolism. 27191787

2016
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.340 Biomarker 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.340 Biomarker CLINGEN Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome. 24166474

2014
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.340 Biomarker CLINGEN Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. 24878502

2014
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.340 Biomarker 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.340 Biomarker CLINGEN Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. 23589815

2013
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.340 Biomarker CLINGEN Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. 23482991

2013
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.340 Biomarker CLINGEN Seventeen additional patients with Leigh syndrome were screened for mutations in SLC19A3 using conventional Sanger sequencing. 23423671

2013
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.340 Biomarker 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.340 Biomarker CLINGEN Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice. 19879271

2010