Gene: ABCD1 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123102
rs398123102
ABCD1
0.810 GeneticVariation BEFREE Two novel missense mutations, 1939G to A (R518Q) and 2017A to G (Q544R) were identified in Japanese patients with adrenoleukodystrophy (ALD). 9212180

1997
dbSNP: rs398123105
rs398123105
ABCD1
0.810 GeneticVariation BEFREE Except for two mutations (delAG1801 and P560L) observed four times each, nearly every ALD family has a different mutation. 8651290

1996
dbSNP: rs128624223
rs128624223
ABCD1
0.810 GeneticVariation BEFREE A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study. 7876858

1995
dbSNP: rs201568579
rs201568579
ABCD1
0.710 GeneticVariation BEFREE An 11-year-old chimpanzee showed remarkably similar features to juvenile onset cerebral X-ALD in humans including demyelination of frontal lobes and corpus callosum on MRI, elevated plasma levels of C24:0 and C26:0, and identification of the c.1661G>A ABCD1 variant. 28919002

2017