Annotation Detail
Information
- Associated Genes
- ABCG2
- Associated Variants
-
ABCG2 MUTATION
ABCG2 MUTATION - Associated Disease
- pseudoxanthoma elasticum
- Source Database
- DisGeNET
- Description
- Mutations in the ABC transporter ABCC6 were recently identified as cause of Pseudoxanthoma elasticum (PXE), a rare genetic disorder characterized by progressive mineralization of elastic fibers.
- Pubmed
- 25265166
- 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
- 0.00162865123248182
Drugs