SLC16A1, solute carrier family 16 member 1, 6566

N. diseases: 195; N. variants: 15
Disease: Erythrocyte Lactate Transporter Defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855577
Disease: Erythrocyte Lactate Transporter Defect
Erythrocyte Lactate Transporter Defect 		0.700 Biomarker disease GENOMICS_ENGLAND Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. 12502513 2003
CUI: C1855577
Disease: Erythrocyte Lactate Transporter Defect
Erythrocyte Lactate Transporter Defect 		0.700 GermlineCausalMutation disease ORPHANET Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. 10590411 2000
CUI: C1855577
Disease: Erythrocyte Lactate Transporter Defect
Erythrocyte Lactate Transporter Defect 		0.700 GeneticVariation disease UNIPROT Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. 10590411 2000
CUI: C1855577
Disease: Erythrocyte Lactate Transporter Defect
Erythrocyte Lactate Transporter Defect 		0.700 CausalMutation disease CLINVAR
CUI: C1855577
Disease: Erythrocyte Lactate Transporter Defect
Erythrocyte Lactate Transporter Defect 		0.700 Biomarker disease CTD_human