SLC16A1, solute carrier family 16 member 1, 6566

N. diseases: 195; N. variants: 15
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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