Annotation Detail
Information
- Associated Genes
- ABCA1
- Associated Variants
-
ABCA1 MUTATION
ABCA1 MUTATION - Associated Disease
- Tangier disease
- Source Database
- DisGeNET
- Description
- Tangier disease (TD) is a rare autosomal recessive disorder, resulting from mutations in the ATP binding cassette transporter (ABCA1) gene.
- Pubmed
- 25227739
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.598779968924019
Drugs