Disease: Renal carnitine transport defect ×
Source: CURATED ×
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 CausalMutation CLINVAR Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 25132046 2014
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.800 CausalMutation CLINVAR Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. 23520115 2013
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.800 CausalMutation CLINVAR Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. 20074989 2010
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.800 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
0.800 GeneticVariation CLINVAR Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. 20074989 2010
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.800 GeneticVariation CLINVAR Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). 16931768 2006
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.800 CausalMutation CLINVAR Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). 16931768 2006
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.800 GeneticVariation UNIPROT