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 Biomarker GENOMICS_ENGLAND

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (X-ALD) is a functional defect of the ALD Protein (ALDP), an ABC half-transporter localized in the peroxisomal membrane. 10329405

1999

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation CLINVAR ALD shows a highly variable phenotypic expression and extensive mutation analysis in ALD patients has failed to establish a genotype-phenotype correlation, even in the presence of the same ALD-gene defect. 10480364

1999

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation UNIPROT ALD shows a highly variable phenotypic expression and extensive mutation analysis in ALD patients has failed to establish a genotype-phenotype correlation, even in the presence of the same ALD-gene defect. 10480364

1999

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease due to a defect in the ABCD1 (ALD) gene. 11422379

2001

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation LHGDN X-linked adrenoleukodystrophy (X-ALD) results from mutations in ABCD1. 11992258

2002

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (X-ALD) results from mutations in ABCD1. 11992258

2002

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation 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

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (X-ALD) is a demyelinating disease due to mutations in the ABCD1 (ALD) gene, encoding a peroxisomal ATP-binding cassette transporter (ALDP). 15809314

2005

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation CLINVAR X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. 15811009

2005

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 CausalMutation CLINVAR X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. 15811009

2005

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. 15811009

2005

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 Biomarker CLINGEN X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. 15811009

2005

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 that encodes a peroxisomal membrane located ABC half-transporter named ALDP. 17092750

2007

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 (ALD) gene. 19406244

2009

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy is an inherited neurological disorder caused by mutations in the ABCD1 gene (located on chromosome Xq28) encoding adrenoleukodystrophy protein which is involved in the transport of substrates from the cytoplasm into the peroxisomal lumen. 19406751

2009

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 Biomarker BEFREE X-linked adrenoleukodystrophy (ALD) is a severe brain demyelinating disease in boys that is caused by a deficiency in ALD protein, an adenosine triphosphate-binding cassette transporter encoded by the ABCD1 gene. 19892975

2009

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) are allelic X-chromosomal disorders of peroxisomal lipid metabolism due to mutations of the ABCD1-gene, leading, respectively, to leukoencephalopathy or myeloneuropathy in male patients. 20195870

2010

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. 20859837

2010

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (ALD) is caused by mutations in the ABCD1 gene that encodes a protein of the peroxisomal membrane named ALDP. 21164268

2011

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (X-ALD) is a progressive peroxisomal disorder affecting adrenal glands, testes and myelin stability that is caused by mutations in the ABCD1 (NM_000033) gene. 21700483

2012

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 GeneticVariation BEFREE X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and adrenal cortex secondary to mutations in the ABCD1 gene that encode the peroxisomal membrane protein. 21966424

2011

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 Biomarker BEFREE X-linked adrenoleukodystrophy (X-ALD) is characterized by ABCD1 deficiency. 22057157

2012

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
1.000 Biomarker CTD_human X-linked adrenoleukodystrophy (X-ALD) is characterized by ABCD1 deficiency. 22057157

2012