SLC22A5, solute carrier family 22 member 5, 6584

N. diseases: 103; N. variants: 130
Disease: Renal carnitine transport defect ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377767449
rs377767449
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		TACCGGCTCGCC 0.700 CausalMutation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs377767449
rs377767449
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		TACCGGCTCGCC 0.700 CausalMutation CLINVAR Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype. 23379544 2014
dbSNP: rs377767449
rs377767449
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		TACCGGCTCGCC 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in primary carnitine deficiency. 21922592 2012
dbSNP: rs377767449
rs377767449
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		TACCGGCTCGCC 0.700 CausalMutation CLINVAR Pharmacological rescue of carnitine transport in primary carnitine deficiency. 16652335 2006
dbSNP: rs377767449
rs377767449
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		TACCGGCTCGCC 0.700 CausalMutation CLINVAR Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. 15714519 2005
dbSNP: rs377767449
rs377767449
Entrez Id: 6584;553103
Gene Symbol: SLC22A5;MIR3936HG
SLC22A5;MIR3936HG
CUI: C0342788
Disease:
Renal carnitine transport defect 		TACCGGCTCGCC 0.700 CausalMutation CLINVAR Phenotype and genotype variation in primary carnitine deficiency. 11715001 2002