Annotation Detail
Information
- Associated Genes
- ABCG2
- Associated Variants
-
ABCG2 MUTATION
ABCG2 MUTATION - Associated Disease
- adrenoleukodystrophy
- Source Database
- DisGeNET
- Description
- X-linked Adrenoleukodystrophy (X-ALD), an inherited peroxisomal metabolic neurodegenerative disorder, is caused by mutations/deletions in the ATP-binding cassette transporter (ABCD1) gene encoding peroxisomal ABC transporter adrenoleukodystrophy protein (ALDP).
- Pubmed
- 25393703
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
Drugs