SLC22A4, solute carrier family 22 member 4, 6583

N. diseases: 90; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030524
Disease: Paratuberculosis
Paratuberculosis
0.010 GeneticVariation disease LHGDN We hypothesize that a specific antibody raised to this epitope during C. jejuni or M. paratuberculosis enterocolitis would cross-react with the intestinal epithelial cell functional variant of OCTN1, an already less efficient carnitine transporter, leading to an impairment of mitochondrial beta-oxidation which may then serve as an initiating event in IBD. 16246312 2005
CUI: C0030524
Disease: Paratuberculosis
Paratuberculosis
0.010 GeneticVariation disease BEFREE We hypothesize that a specific antibody raised to this epitope during C. jejuni or M. paratuberculosis enterocolitis would cross-react with the intestinal epithelial cell functional variant of OCTN1, an already less efficient carnitine transporter, leading to an impairment of mitochondrial beta-oxidation which may then serve as an initiating event in IBD. 16246312 2005