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 Biomarker phenotype GENOMICS_ENGLAND Phenotypes of female adrenoleukodystrophy. 17372139 2007
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
0.310 Biomarker phenotype LHGDN We report a novel missense mutation in the ABCD1 gene in a 47-year-old French-Canadian female with spastic paraparesis and no confirmed family history of X-linked adrenoleukodystrophy. 16018167 2005