Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 GeneticVariation CLINVAR Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 25132046

2014
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 CausalMutation CLINVAR Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands. 23653224

2014
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 GeneticVariation CLINVAR Primary carnitine deficiency cardiomyopathy. 24746540

2014
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 GeneticVariation CLINVAR Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. 23798014

2013
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 CausalMutation CLINVAR Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. 23520115

2013
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 CausalMutation CLINVAR Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency. 23430798

2013
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 GeneticVariation CLINVAR Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. 23520115

2013
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 GeneticVariation CLINVAR Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency. 23430798

2013
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 GeneticVariation CLINVAR Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency. 23430869

2012
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 CausalMutation CLINVAR Primary carnitine deficiency is caused by defective OCTN2 carnitine transporters encoded by the SLC22A5 gene. 21922592

2012
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 CausalMutation CLINVAR Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report. 23430858

2012
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 CausalMutation CLINVAR Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency. 23430869

2012
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 CausalMutation CLINVAR SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. 23090741

2012
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 GeneticVariation CLINVAR SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. 23090741

2012
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 GeneticVariation CLINVAR Primary carnitine deficiency is caused by defective OCTN2 carnitine transporters encoded by the SLC22A5 gene. 21922592

2012
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 CausalMutation CLINVAR Functional analysis of pharmacogenetic variants of human organic cation/carnitine transporter 2 (hOCTN2) identified in Singaporean populations. 21864509

2011
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 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
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 GeneticVariation CLINVAR Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency. 21126579

2011
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 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
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 CausalMutation CLINVAR Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency. 21126579

2011
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 GeneticVariation CLINVAR Systemic primary carnitine deficiency is an autosomal recessive disorder of the carnitine cycle caused by mutations in the SLC22A5 gene that encodes the carnitine transporter, organic cation transporter. 20027113

2010
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 CausalMutation CLINVAR Genetic variations of the SLC22A5 gene in the Chinese and Indian populations of Singapore. 20208395

2010
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 CausalMutation CLINVAR Systemic primary carnitine deficiency is an autosomal recessive disorder of the carnitine cycle caused by mutations in the SLC22A5 gene that encodes the carnitine transporter, organic cation transporter. 20027113

2010
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 CausalMutation CLINVAR The entire coding regions of the OCTN2 gene were sequenced in 143 unrelated subjects suspected of having CDSP. 20574985

2010
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 GeneticVariation CLINVAR The entire coding regions of the OCTN2 gene were sequenced in 143 unrelated subjects suspected of having CDSP. 20574985

2010