Annotation Detail

Information
Associated Genes
MTTP
Associated Variants
MTTP MUTATION
MTTP MUTATION
Associated Disease
abetalipoproteinemia
Source Database
DisGeNET
Description
Knowledge of the molecular basis for abetalipoproteinemia has led to the development of therapies for dyslipidemia that inhibit MTP.
Pubmed
25552696
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
3
Original source reporting the Gene Disease association
BeFree,CLINVAR,CTD_human,LHGDN,ORPHANET,UNIPROT
DisGENET score for the Gene Disease association
0.490867606404876
Drugs