Annotation Detail
Information
- Associated Genes
- APOA1
- Associated Variants
-
APOA1 MUTATION
APOA1 MUTATION - Associated Disease
- Tangier disease
- Source Database
- DisGeNET
- Description
- Relative to IPSDM and HMDM of control individuals, patterns of defective cholesterol efflux to apolipoprotein A-I and high-density lipoprotein-3 were qualitatively and quantitatively similar in IPSDM and HMDM of patients with Tangier disease, an autosomal recessive disorder because of mutations in ATP-binding cassette transporter AI.
- Pubmed
- 25904599
- Section of the abstract supporting the evidence
- METHODS AND RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 6
- Original source reporting the Gene Disease association
- BeFree,LHGDN
- DisGENET score for the Gene Disease association
- 0.00679597832367172
Drugs