SLC22A5, solute carrier family 22 member 5, 6584

N. diseases: 103; N. variants: 130
Disease: Renal carnitine transport defect ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554085861
rs1554085861
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.700 GeneticVariation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs1554085861
rs1554085861
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.700 GeneticVariation CLINVAR Carnitine transport and fatty acid oxidation. 26828774 2016
dbSNP: rs1554085861
rs1554085861
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.700 GeneticVariation CLINVAR Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. 9916797 1999