Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE Our findings expand the mutation spectrum of ABCD1 and indicate that ALD represent a significant portion (4.9%, 7/142) of the spastic paraplegia entities. 31777199

2020

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (X-ALD), a progressive neurometabolic disorder that is caused by a defect in the gene ABCD1 (ATP-binding cassette, subfamily D, member 1), which encodes the peroxisomal ABC half-transporter ALD protein. 31350055

2019

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE We found three novel mutations in the ABCD1 gene with damaging effects on its protein product and responsible for X-ALD. 31665121

2019

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance. 30658899

2019

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 Biomarker BEFREE X-linked Adrenoleukodystrophy (X-ALD) is a neuro-metabolic disorder that is caused by malfunction of a peroxisomal transporter protein, adenosine ATP-binding cassette transporter superfamily D member 1 (ABCD1). 30921588

2019

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family. 31557422

2019

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 CausalMutation CLINVAR Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy. 28503596

2019

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 gene. 31778737

2019

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 Biomarker BEFREE CRISPR/Cas9-mediated knockout of Abcd1 and Abcd2 genes in BV-2 cells: novel microglial models for X-linked Adrenoleukodystrophy. 30769094

2019

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE Early detection is critical to prevent the progression of X-ALD with mutation analysis of ABCD1 the most accurate method to confirm diagnosis. 31452695

2019

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disorder due to mutations in the peroxisomal very long-chain fatty acyl-CoA transporter, ABCD1, with limited therapeutic options. 30069915

2018

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy is caused by ATP-binding cassette transporter D1 (ABCD1) mutations and manifests by default as slowly progressive spinal cord axonopathy with associated demyelination (adrenomyloneuropathy). 29860501

2018

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 Biomarker BEFREE ABCD1 is a gene responsible for X-linked adrenoleukodystrophy (X-ALD), and is critical for the transport of very long-chain fatty acids (VLCFA) into peroxisomes and subsequent β-oxidation. 29469952

2018

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE We suggest that decreased synthesis of BAs may be an additional dysfunction as a consequence of the ABCD1 c.659T>C, p.(Leu220Pro) mutation and may be further evidence that disturbed cholesterol metabolism is important in the pathology of ALD. 30544401

2018

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report. 29794777

2018

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE The diagnosis of X-linked adrenoleukodystrophy can be confirmed with the mutation of ABCD1 gene. 29284317

2018

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 Biomarker BEFREE The dysregulation of SIRT1-DEPTOR-mTORC1 signaling is a critical determinant of ALD pathology; targeting SIRT1 and DEPTOR and selectively inhibiting mTORC1-S6K1 signaling may have therapeutic potential for treating ALD in humans.(Hepatology 2018). 29457836

2018

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene. 29615068

2018

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 AlteredExpression BEFREE In the liver of PBC and ALD patients, (i) roughly 10% of the B lymphocytes were clonally related and highly expressed, and there were also lineages that underwent extensive clonal expansion; (ii) there was different use of IGHV/IGHJ segments between PBC and ALD, suggesting distinct Ag exposure backgrounds, but this did not lead to a significant difference in their clonal expansion level. 28834158

2018

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum. 29966135

2018

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (X-ALD) is an inherited neurometabolic disorder caused by disfunction of the ABCD1 gene, which encodes a peroxisomal protein responsible for the transport of the very long-chain fatty acids from the cytosol into the peroxisome, to undergo β-oxidation. 30302628

2018

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (ALD) is a progressive neurodegenerative disease that is caused by mutations in the ABCD1 gene and characterized by elevated levels of very long-chain fatty acids (VLCFA) in plasma and tissues, with the most pronounced increase in the central nervous system. 28666219

2017

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene, leading to a defect in the peroxisomal adrenoleukodystrophy protein (ALDP), which inhibits the β-oxidation of very long chain fatty acids (VLCFAs). 26843114

2017

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by a mutation in the ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene. 29065337

2017

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked Adrenoleukodystrophy (X-ALD) is a genetic disease that caused by mutations in adenosine triphosphate [ATP]-binding-cassette transporter superfamily D member 1 (ABCD1) gene. 29128817

2017