Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11146842
rs11146842
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		A 0.800 CausalMutation CLINVAR Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy. 26454440

2015
dbSNP: rs11146842
rs11146842
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: adrenoleukodystrophy. 22071894

2012
dbSNP: rs11146842
rs11146842
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		A 0.800 CausalMutation CLINVAR X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. 21700483

2012
dbSNP: rs11146842
rs11146842
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		A 0.800 CausalMutation CLINVAR X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan. 21068741

2011
dbSNP: rs11146842
rs11146842
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		A 0.800 CausalMutation CLINVAR In the case of X-ALD fibroblasts from an ALD patient (R617H), the mutant ALDP was not detected in the cells, but appeared upon incubation with a proteasome inhibitor. 17542813

2007
dbSNP: rs11146842
rs11146842
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		A 0.800 CausalMutation CLINVAR Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. 15800013

2005
dbSNP: rs11146842
rs11146842
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		A 0.800 CausalMutation CLINVAR Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins. 9425230

1998
dbSNP: rs11146842
rs11146842
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		A 0.800 CausalMutation CLINVAR Altered expression of ALDP in X-linked adrenoleukodystrophy. 7668254

1995
dbSNP: rs11146842
rs11146842
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		A 0.800 CausalMutation CLINVAR Mutational analysis of patients with X-linked adrenoleukodystrophy. 7581394

1995
dbSNP: rs11146842
rs11146842
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		A 0.800 CausalMutation CLINVAR Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. 8040304

1994