DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Adrenoleukodystrophy ×

Variant: rs713993050 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.

24719134

2014

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.

24685009

2014

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.

23671276

2013

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Parallel assessment of globin lentiviral transfer in induced pluripotent stem cells and adult hematopoietic stem cells derived from the same transplanted β-thalassemia patient.

23712774

2013

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Gene therapy on demand: site specific regulation of gene therapy.

23566848

2013

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.

23430809

2013

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients.

23300730

2012

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Peroxisomal ABC transporters: structure, function and role in disease.

22366764

2012

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.

21488864

2011

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report.

21586746

2011

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.

21966424

2011

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity.

22198747

2011

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Latitude is significantly associated with the prevalence of multiple sclerosis: a meta-analysis.

21478203

2011

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Stem cells in genetic myelin disorders.

20455653

2010

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.

20626745

2010

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Hematopoietic stem cell gene transfer for the treatment of hemoglobin disorders.

20008255

2009

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.

16949688

2006

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD).

16415970

2006

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

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

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophy.

15564782

2005

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Natural history of X-linked adrenoleukodystrophy in Japan.

16023551

2005

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening.

15812458

2005

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.

15800013

2005

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Nonsense-mediated decay approaches the clinic.

15284851

2004

dbSNP:

rs713993050

ABCD1 ; BCAP31

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid.

15388659

2004