Annotation Detail
Information
- Associated Genes
- ABCG2
- Associated Variants
-
ABCG2 MUTATION
ABCG2 MUTATION - Associated Disease
- adrenoleukodystrophy
- Source Database
- DisGeNET
- Description
- The human genetic disorder X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene (encoding ALDP, a peroxisomal half ATP-binding cassette [ABC] transporter).
- Pubmed
- 25118695
- Section of the abstract supporting the evidence
- BACKGROUND
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
Drugs