Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557052390
rs1557052390
ABCD1 ; BCAP31
G 0.800 CausalMutation CLINVAR X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure? 24722136

2014
dbSNP: rs1557052390
rs1557052390
ABCD1 ; BCAP31
0.800 GeneticVariation UNIPROT Clinical utility gene card for: adrenoleukodystrophy. 22071894

2012
dbSNP: rs1557052390
rs1557052390
ABCD1 ; BCAP31
G 0.800 CausalMutation CLINVAR Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations. 17542813

2007
dbSNP: rs1557052390
rs1557052390
ABCD1 ; BCAP31
G 0.800 CausalMutation CLINVAR Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. 15800013

2005
dbSNP: rs1557052390
rs1557052390
ABCD1 ; BCAP31
G 0.800 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: rs1557052390
rs1557052390
ABCD1 ; BCAP31
G 0.800 CausalMutation CLINVAR Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy. 11336405

2001
dbSNP: rs1557052390
rs1557052390
ABCD1 ; BCAP31
G 0.800 CausalMutation CLINVAR Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. 10737980

2000
dbSNP: rs1557052390
rs1557052390
ABCD1 ; BCAP31
G 0.800 CausalMutation CLINVAR De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene. 7860075

1995
dbSNP: rs1557052390
rs1557052390
ABCD1 ; BCAP31
G 0.800 CausalMutation CLINVAR Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). 7849723

1994