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: rs11568520
rs11568520
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.800 CausalMutation CLINVAR Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 25132046 2014
dbSNP: rs11568520
rs11568520
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.800 CausalMutation CLINVAR Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. 23520115 2013
dbSNP: rs11568520
rs11568520
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.800 GeneticVariation CLINVAR Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. 20074989 2010
dbSNP: rs11568520
rs11568520
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.800 CausalMutation CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985 2010
dbSNP: rs11568520
rs11568520
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.800 CausalMutation CLINVAR Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. 20074989 2010
dbSNP: rs11568520
rs11568520
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.800 CausalMutation CLINVAR Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). 16931768 2006
dbSNP: rs11568520
rs11568520
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.800 GeneticVariation CLINVAR Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). 16931768 2006
dbSNP: rs11568520
rs11568520
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT