Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
0.310 Biomarker phenotype GENOMICS_ENGLAND Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia. 23664929 2013
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
0.310 GeneticVariation phenotype BEFREE We report a family of three siblings diagnosed with ALD confirmed with the mutations in ABCD1 gene having phenotypical variability ranging from pure adrenal insufficiency to progressive neurodegeneration in the same family. 20228476 2010
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
0.310 Biomarker phenotype GENOMICS_ENGLAND Phenotypes of female adrenoleukodystrophy. 17372139 2007