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 CTD_human
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: 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 CTD_human Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. 1301993 1992
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: 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: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.080 AlteredExpression disease BEFREE Expression of either ALDP or PMP70 restores VLCFA beta-oxidation in X-ALD fibroblasts, indicating overlapping functions. 9425230 1998
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 AlteredExpression group BEFREE The protein levels of catalase (CAT), acyl-CoA oxidase as well as the 22 and 70 kDa peroxisomal membrane proteins (PMP22 and PMP70) were all significantly decreased in carcinomas. 10357777 1999
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.080 Biomarker disease BEFREE As overexpression of the ABCD2 or ABCD3 gene can reverse the biochemical phenotype of X-ALD (reduced beta-oxidation of very-long-chain fatty acids), pharmacological induction of these partially redundant genes may represent a therapeutic approach to X-ALD. 11422379 2001
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.080 Biomarker disease BEFREE This study shows that: (1) ABCD1 gene mutations leading to truncated ALD protein are unlikely to cause variation in the ALD phenotype; (2) accumulation of saturated VLCFA in normal-appearing WM correlates with ALD phenotype and (3) expression of the ABCD4 and BG1, but not of the ABCD2, ABCD3 and VLCS genes, tends to be correlated with the severity of the disease, acting early in the pathogenesis of ALD. 15800013 2005
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy 		0.010 Biomarker disease BEFREE To elucidate the mechanisms underlying the phenotypic variability of ALD, we studied the expression of ABCD1, three other peroxisomal transporter genes of the same family (ABCD2, ABCD3 and ABCD4) and two VLCFA synthetase genes (VLCS and BG1) involved in VLCFA metabolism, as well as the VLCFA concentrations in the normal white matter (WM) from ALD patients with CCER, AMN-C and AMN phenotypes. 15800013 2005
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.080 AlteredExpression disease LHGDN Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy. 17602313 2007
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.080 Biomarker disease BEFREE Interestingly, in X-ALD fibroblasts, while T3 is associated with a transient induction of ABCD2 and ABCD3, the treatments with thyromimetics allow the induction to be maintained until 10 days. 19406244 2009
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
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: 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