Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | disease | BEFREE | Cerebral adrenoleukodystrophy (CALD) is a rapidly progressing, often fatal neurodegenerative disease caused by mutations in the ABCD1 gene, resulting in deficiency of ALD protein. | 30292747 | 2019 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Cerebral adrenoleukodystrophy (cALD) is an inflammatory neurodegenerative disease associated with mutation of the ABCD1 gene. | 31133696 | 2019 | ||||
|
0.080 | Biomarker | disease | BEFREE | In conclusion, anti-PFN may be a novel biomarker associated with the development of cALD in boys with ALD. | 30829395 | 2019 | ||||
|
0.080 | Biomarker | disease | BEFREE | Accordingly, ABCD1-deficiency leads to an impaired plasticity of macrophages that is reflected in incomplete establishment of anti-inflammatory responses, thus possibly contributing to the devastating rapidly progressive demyelination in cerebral adrenoleukodystrophy that only in rare cases arrests spontaneously. | 29860501 | 2018 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Similar mutations/deletions in the Abcd1 gene often result in diagonally opposing phenotypes of mild adrenomyeloneuropathy and severe neuroinflammatory cerebral adrenoleukodystrophy (ALD), which suggests involvement of downstream modifier genes. | 26849413 | 2016 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | We report here a disease-related variant in the ABCD1 gene in a 19-year-old Tunisian boy with childhood cerebral adrenoleukodystrophy. | 23651979 | 2013 | ||||
|
0.080 | Biomarker | disease | BEFREE | To gain insights into these questions, we undertook a transcriptomic approach followed by a functional-enrichment analysis in spinal cords of the animal model of AMN, the Abcd1(-) null mice, and in normal-appearing white matter of cAMN and cALD patients. | 22095690 | 2012 | ||||
|
0.080 | Biomarker | disease | BEFREE | An improved understanding of the molecular mechanisms associated with these three phases of cALD disease should facilitate the development of effective pharmacological therapeutics for X-ALD. | 20626745 | 2010 |