Annotation Detail
Information
- Associated Genes
- ADH1A
- Associated Variants
-
ADH1A MUTATION
ADH1A MUTATION - Associated Disease
- Hyperlipoproteinemia Type IIa
- Source Database
- DisGeNET
- Description
- Homozygous familial hypercholesterolemia (HoFH) represents the most severe lipoprotein disorder, generally attributable to mutation(s) of the low-density lipoprotein receptor (LDL-R), i.e. autosomal dominant hypercholesterolemia type 1 (ADH1).
- Pubmed
- 24987866
- 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
- 0.000542883744160607
Drugs