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: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. 30609409 2019
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Genomic sequencing identifies secondary findings in a cohort of parent study participants. 29790872 2018
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. 28711408 2017
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 GeneticVariation CLINVAR Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. 23798014 2013
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 GeneticVariation CLINVAR Genotype-phenotype correlation in primary carnitine deficiency. 21922592 2012
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Genotype-phenotype correlation in primary carnitine deficiency. 21922592 2012
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Genotype-phenotype correlation in primary carnitine deficiency. 21922592 2012
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2. 22116472 2011
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 GeneticVariation CLINVAR Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2. 22116472 2011
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
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: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
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: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
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: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
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: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
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: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
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: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Expanded newborn screening identifies maternal primary carnitine deficiency. 17126586 2007
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Pharmacological rescue of carnitine transport in primary carnitine deficiency. 16652335 2006
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 GeneticVariation CLINVAR Pharmacological rescue of carnitine transport in primary carnitine deficiency. 16652335 2006
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
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: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
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: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
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: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Phenotype and genotype variation in primary carnitine deficiency. 11715001 2002
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation. 11058897 2000