Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C4225390
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 		0.700 Biomarker disease CTD_human
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.320 GeneticVariation disease BEFREE The ALDR gene is also a candidate for being implicated in one of the complementation groups of Zellweger syndrome, a genetically heterogeneous disorder of peroxisome biogenesis, rare cases of which were found to be associated with mutations in the PMP70 (PXMP1) gene. 8577752 1996
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.320 GeneticVariation disease BEFREE Amongst 32 probands with ZS or related disorders, we found two mutant PMP70 alleles in single ZS probands from the same complementation group. 1301993 1992
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.320 Biomarker disease CTD_human Amongst 32 probands with ZS or related disorders, we found two mutant PMP70 alleles in single ZS probands from the same complementation group. 1301993 1992
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: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.310 Biomarker disease CTD_human Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. 1301993 1992
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 Biomarker disease CTD_human The role of ABC transporters in progression and clinical outcome of colorectal cancer. 22294766 2012
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.300 Biomarker group CTD_human The role of ABC transporters in progression and clinical outcome of colorectal cancer. 22294766 2012
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		0.300 Biomarker disease CTD_human Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. 1301993 1992
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
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: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0022346
Disease: Icterus
Icterus 		0.100 Biomarker phenotype HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0085605
Disease: Liver Failure
Liver Failure 		0.100 Biomarker disease HPO
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.100 Biomarker disease HPO
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.100 Biomarker disease HPO
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.100 Biomarker phenotype HPO
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: 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 Biomarker disease BEFREE This study showed that ABCD2, ABCD3, and ABCD4 are less likely the disease-modifying genes, necessitating further studies to identify genes modifying ALD phenotypes. 20661612 2011