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: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014). 26589311 2016
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 GeneticVariation CLINVAR Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. 24516753 2014
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 GeneticVariation CLINVAR Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 25132046 2014
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 25132046 2014
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 GeneticVariation CLINVAR Genotype-phenotype correlation in primary carnitine deficiency. 21922592 2012
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Genotype-phenotype correlation in primary carnitine deficiency. 21922592 2012
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Genotype-phenotype correlation in primary carnitine deficiency. 21922592 2012
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency. 21126579 2011
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 GeneticVariation CLINVAR Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency. 21126579 2011
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985 2010
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. 20027113 2010
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 GeneticVariation CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985 2010
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. 20074989 2010
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. 20027113 2010
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985 2010
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Expanded newborn screening identifies maternal primary carnitine deficiency. 17126586 2007
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Pharmacological rescue of carnitine transport in primary carnitine deficiency. 16652335 2006
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). 16931768 2006
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 GeneticVariation CLINVAR Pharmacological rescue of carnitine transport in primary carnitine deficiency. 16652335 2006
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. 15714519 2005
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy. 15617188 2004
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 GeneticVariation CLINVAR Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy. 15617188 2004
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy. 15617188 2004
dbSNP: rs72552726
rs72552726
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Phenotype and genotype variation in primary carnitine deficiency. 11715001 2002