Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes. 9556301

1998
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis. 20626745

2010
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Natural history of X-linked adrenoleukodystrophy in Japan. 16023551

2005
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. 15800013

2005
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 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
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD). 16415970

2006
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. 7825602

1995
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Latitude is significantly associated with the prevalence of multiple sclerosis: a meta-analysis. 21478203

2011
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata. 8353949

1993
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins. 7998779

1994
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype. 8773611

1996
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene. 7894167

1994
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes. 6728562

1984
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. 9894883

1999
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 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
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 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
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients. 23300730

2012
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 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
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity. 22198747

2011
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. 8441467

1993
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Predictions of a 2-locus model for disease heterogeneity: application to adrenoleukodystrophy. 1481812

1992
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Hematopoietic stem cell gene transfer for the treatment of hemoglobin disorders. 20008255

2009
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening. 15812458

2005
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene. 24685009

2014
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		TC 0.700 CausalMutation CLINVAR X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression. 10815658

2000