DisGeNET - a database of gene-disease associations

Renal carnitine transport defect, C0342788

Variant: rs386134218 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Functional and molecular studies in primary carnitine deficiency.

28841266

2017

dbSNP:

rs386134218

SLC22A5

0.800

CausalMutation

CLINVAR

Functional and molecular studies in primary carnitine deficiency.

28841266

2017

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

CLINVAR

Genotype-phenotype correlation in primary carnitine deficiency.

21922592

2012

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Genotype-phenotype correlation in primary carnitine deficiency.

21922592

2012

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.

20074989

2010

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

20027113

2010

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

20574985

2010

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Expanded newborn screening identifies maternal primary carnitine deficiency.

17126586

2007

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).

16931768

2006

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

CLINVAR

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

16652335

2006

dbSNP:

rs386134218

SLC22A5

0.800

CausalMutation

CLINVAR

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

16652335

2006

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

CLINVAR

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.

15714519

2005

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.

15714519

2005

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

15617188

2004

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

CLINVAR

Here we report two new patients with carnitine deficiency caused by mutations affecting tyrosyl residues (Y447C and Y449D) close to a residue (Glu-452) previously shown to affect sodium stimulation of carnitine transport.

14665638

2004

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Phenotype and genotype variation in primary carnitine deficiency.

11715001

2002

dbSNP:

rs386134218

SLC22A5

0.800

CausalMutation

CLINVAR

Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.

12408185

2002

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

CLINVAR

Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.

12408185

2002

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.

11058897

2000

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.

10612840

2000

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.

10679939

2000

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.

10480371

1999

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.

10545605

1999

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.

10072434

1999

dbSNP:

rs386134218

SLC22A5

0.800

GeneticVariation

UNIPROT

Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function.

10559218

1999