DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Renal carnitine transport defect ×

Gene: SLC22A5 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

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

CausalMutation

CLINVAR

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

30609409

2019

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

CausalMutation

CLINVAR

Genomic sequencing identifies secondary findings in a cohort of parent study participants.

29790872

2018

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

CausalMutation

CLINVAR

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.

28711408

2017

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

GeneticVariation

CLINVAR

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.

28711408

2017

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

CausalMutation

CLINVAR

These results indicate that mutations in the coding region of the SLC22A5 gene cannot be identified in about 16% of the alleles causing primary carnitine deficiency.

28841266

2017

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

GeneticVariation

CLINVAR

These results indicate that mutations in the coding region of the SLC22A5 gene cannot be identified in about 16% of the alleles causing primary carnitine deficiency.

28841266

2017

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

GeneticVariation

CLINVAR

Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening.

28753539

2017

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

GeneticVariation

CLINVAR

Carnitine transport and fatty acid oxidation.

26828774

2016

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

CausalMutation

CLINVAR

Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

26589311

2016

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 Newborn Screening for Disorders of the Carnitine Cycle.

27931018

2016

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

CausalMutation

CLINVAR

Carnitine deficiency induces a short QT syndrome.

26190315

2016

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 Newborn Screening for Disorders of the Carnitine Cycle.

27931018

2016

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

CausalMutation

CLINVAR

Carnitine transport and fatty acid oxidation.

26828774

2016

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

CausalMutation

CLINVAR

[Genetic and prenatal diagnosis for a Chinese family with primary carnitine deficiency].

26252091

2015

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

CausalMutation

CLINVAR

Spectrum of metabolic myopathies.

24997454

2015

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

CausalMutation

CLINVAR

Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.

25846890

2015

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 skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation.

25665836

2015

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

GeneticVariation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

CausalMutation

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

GeneticVariation

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: novel mutations and insights into the cardiac phenotype.

23379544

2014

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

CausalMutation

CLINVAR

Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.

27896095

2014

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 in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening.

23963628

2014

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: novel mutations and insights into the cardiac phenotype.

23379544

2014

Entrez Id:	6584
Gene Symbol:	SLC22A5

SLC22A5

CUI:	C0342788
Disease:	Renal carnitine transport defect

Renal carnitine transport defect

1.000

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