Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.020 GeneticVariation disease BEFREE Significant associations between CYP2E1 Pst I/Rsa I polymorphism and ALD risk were also observed in Asians (c2c2 vs. c1c1: OR = 4.11, 95%CI 2.32-7.29) and in Caucasians (c2c2/c1c2 vs. c1c1: OR = 1.58, 95%CI 1.04-2.42) when ALD patients were compared with alcoholics without ALD. 23335995 2013
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.020 GeneticVariation disease BEFREE A nephew with childhood ALD who died 10 years earlier had the same mutant allele as detected by Pst I restriction assay. 8297373 1994