rs121908889, SLC22A5

N. diseases: 1
Disease: Renal carnitine transport defect ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.800 GeneticVariation UNIPROT Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. 10425211 1999
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.800 GeneticVariation UNIPROT Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. 10480371 1999
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.800 CausalMutation CLINVAR Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. 10425211 1999
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.800 GeneticVariation UNIPROT Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. 10072434 1999
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
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