Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.080 Biomarker disease BEFREE By quantification of mRNA and protein levels of the peroxisomal ABC transporters and by blocking with specific antibodies, we found that residual β-oxidation activity toward C26:0-CoA in X-ALD fibroblasts is mediated by ABCD3, although the efficacy of ABCD3 appeared to be much lower than that of ABCD1. 23671276 2013
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.080 AlteredExpression disease BEFREE We observed up-regulation of ABCD2,ABCD3 and CTNNB1 (the gene encoding for beta-catenin, which was recently demonstrated to induce ABCD2 expression) in human HepG2 hepatoma cells and in X-ALD skin fibroblasts treated with LXR antagonists. 24239766 2014
CUI: C4225390
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 		0.700 Biomarker disease MGD A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. 25168382 2015
CUI: C4225390
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 		0.700 Biomarker disease GENOMICS_ENGLAND A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. 25168382 2015
CUI: C4225390
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 		0.700 Biomarker disease GENOMICS_ENGLAND A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. 25168382 2015
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.010 Biomarker phenotype BEFREE Recently, it is reported that ABCD3 and ABCD4 are responsible for hepatosplenomegaly and vitamin B<sub>12</sub> deficiency, respectively. 27766264 2016
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.020 Biomarker disease BEFREE Thus, we conducted a diagnostic meta-analysis and applied the results to a hypothetical cohort of 1000 patients with transient ischemic attack (TIA) to assess the power of stroke prediction by ABCD2 and ABCD3-I scores. 28647418 2017
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.020 Biomarker group BEFREE Of the 35 identified studies on ABCD2 and ABCD3-I, 6 studies (7364 participants) directly compared the diagnostic accuracies of ABCD2 and ABCD3-I scores for occurrence of a future stroke. 28647418 2017
CUI: C0917805
Disease: Transient Cerebral Ischemia
Transient Cerebral Ischemia 		0.020 GeneticVariation disease BEFREE Comparison of Stroke Prediction Accuracy of ABCD2 and ABCD3-I in Patients with Transient Ischemic Attack: A Meta-Analysis. 28647418 2017
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.310 Biomarker disease BEFREE Further, we investigated the 70 kDa peroxisomal membrane protein (PMP70) abundance in relationship to the ZSS sub-diffraction phenotype. 29773809 2018
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.020 Biomarker disease BEFREE We aim to determine the performance and cost-effectiveness of an ABCD3-I based pathway for expedited evaluation of TIA patients in the ED. 31230922 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.020 GeneticVariation group BEFREE Dual antiplatelet therapy reduced stroke risk in high-risk patients with transient ischaemic attack assessed by ABCD3-I score. 30414298 2019
CUI: C0917805
Disease: Transient Cerebral Ischemia
Transient Cerebral Ischemia 		0.020 Biomarker disease BEFREE Initiation of the ABCD3-I algorithm for expediated evaluation of transient ischemic attack patients in an emergency department. 31230922 2019