rs121908886, 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
0.700 CausalMutation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266 2017
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.700 CausalMutation CLINVAR Genotype-phenotype correlation in primary carnitine deficiency. 21922592 2012
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.700 CausalMutation CLINVAR Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency. 23430869 2012
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.700 CausalMutation CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985 2010
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.700 CausalMutation CLINVAR Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. 15714519 2005
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.700 CausalMutation CLINVAR Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. 10051646 1999
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.700 CausalMutation CLINVAR 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
0.700 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