| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | disease | BEFREE | We show that loss of the <i>Drosophila</i> long-/very-long-chain acyl-CoA synthetase genes <i>bgm</i> and/or <i>dbb</i> is indistinguishable from loss of the <i>Drosophila</i> ABC transporter gene <i>ABCD</i> Shared loss-of-function phenotypes for synthetase and transporter mutants point to a lipid metabolic pathway association with ALD-like neurodegenerative disease in <i>Drosophila</i>; a pathway association that has yet to be established in humans. | 29739804 | 2018 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disease caused by mutations in the ABCD1 gene, encoding a member of the peroxisomal ABC transporter family. | 24363066 | 2014 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | The human genetic disorder X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene (encoding ALDP, a peroxisomal half ATP-binding cassette [ABC] transporter). | 25118695 | 2014 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene that encodes the peroxisomal ATP-binding cassette (ABC) transporter subfamily D member 1 protein (ABCD1), which is referred to as the adrenoleukodystrophy protein (ALDP). | 23437103 | 2013 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Mutations in the ABCD1 gene encoding the peroxisomal ABC transporter adrenoleukodystrophy protein are the cause for X-linked adrenoleukodystrophy, an inherited metabolic storage disorder. | 21488864 | 2011 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding the peroxisomal ABC transporter adrenoleukodystrophy protein (ALDP). | 20166112 | 2010 | ||||
|
0.080 | Biomarker | disease | BEFREE | Specific examples of novel treatment strategies for diseases, such as Alzheimer's disease and X-linked adrenoleukodystrophy that are based on modulation of ABC transporter function are discussed and we also examine possible functions for specific ABC transporters in human brain development. | 17973979 | 2008 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | X-linked adrenoleukodystrophy (X-ALD) is a demyelinating disorder associated with impaired very-long-chain fatty-acid (VLCFA) beta-oxidation caused by mutations in the ABCD1 (ALD) gene that encodes a peroxisomal membrane ABC transporter. | 12761339 | 2003 |