SLC16A1, solute carrier family 16 member 1, 6566

N. diseases: 195; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864902
Disease: Hyperinsulinemic hypoglycemia, familial, 7
Hyperinsulinemic hypoglycemia, familial, 7 		0.700 Biomarker disease GENOMICS_ENGLAND Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. 17701893 2007
CUI: C1864902
Disease: Hyperinsulinemic hypoglycemia, familial, 7
Hyperinsulinemic hypoglycemia, familial, 7 		0.700 GermlineCausalMutation disease ORPHANET Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. 17701893 2007
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
CUI: C1864902
Disease: Hyperinsulinemic hypoglycemia, familial, 7
Hyperinsulinemic hypoglycemia, familial, 7 		0.700 Biomarker disease CTD_human
CUI: C1864902
Disease: Hyperinsulinemic hypoglycemia, familial, 7
Hyperinsulinemic hypoglycemia, familial, 7 		0.700 CausalMutation disease CLINVAR
CUI: C4015186
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY 		0.600 GermlineCausalMutation disease ORPHANET Monocarboxylate transporter 1 deficiency and ketone utilization. 25390740 2014
CUI: C4015186
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY 		0.600 GeneticVariation disease UNIPROT Monocarboxylate transporter 1 deficiency and ketone utilization. 25390740 2014
CUI: C4015186
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY 		0.600 Biomarker disease CTD_human
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.310 Biomarker group LHGDN Monocarboxylate transporter 1 mediates DL-2-Hydroxy-(4-methylthio)butanoic acid transport across the apical membrane of Caco-2 cell monolayers. 17182800 2007
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.310 Biomarker group CTD_human Molecular changes in the expression of human colonic nutrient transporters during the transition from normality to malignancy. 11953883 2002
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.300 Biomarker disease CTD_human Molecular changes in the expression of human colonic nutrient transporters during the transition from normality to malignancy. 11953883 2002
CUI: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation 		0.300 Biomarker phenotype CTD_human Molecular changes in the expression of human colonic nutrient transporters during the transition from normality to malignancy. 11953883 2002
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.130 Biomarker disease BEFREE Mutations in eight genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A) are known to cause CHI. 23345197 2013
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.130 Biomarker disease BEFREE Diazoxide is the first-line drug for the rare forms of CHI for long-term treatment but is not entirely effective in some of these rarer defects (GCK, MCT1). 21186003 2011
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.130 AlteredExpression disease BEFREE Congenital hyperinsulinism is associated with mutations of SUR-1 and Kir6.2, glucokinase, glutamate dehydrogenase, short-chain 3-hydroxyacyl-CoA dehydrogenase, and ectopic expression on beta-cell plasma membrane of SLC16A1. 18156285 2008
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.130 Biomarker disease HPO
CUI: C0022638
Disease: Ketosis
Ketosis 		0.120 Biomarker disease BEFREE A SLC16A1 Mutation in an Infant With Ketoacidosis and Neuroimaging Assessment: Expanding the Clinical Spectrum of MCT1 Deficiency. 31380330 2019
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		0.120 Biomarker disease BEFREE Pancreatic K<sub>ATP</sub>, Non-K<sub>ATP</sub>, and some calcium channelopathies and MCT1 transporter defects can lead to various forms of hyperinsulinaemic hypoglycaemia (HH). 31137773 2019
CUI: C0022638
Disease: Ketosis
Ketosis 		0.120 Biomarker disease BEFREE Thus, MCT1 deficiency is a novel cause of profound ketoacidosis; the present work suggests that MCT1-mediated ketone-body transport is needed to maintain acid-base balance. 25390740 2014
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		0.120 Biomarker disease BEFREE Recently dominant mutations in HNF4A (encoding hepatocyte nuclear factor 4alpha) and SLC16A1 (encoding monocarboxylate transporter 1) have been described which lead to HH. 19254908 2009
CUI: C0022638
Disease: Ketosis
Ketosis 		0.120 Biomarker disease HPO