Annotation Detail

Information
Associated Genes
CYP19A1
Associated Variants
CYP19A1 MUTATION
CYP19A1 MUTATION
Associated Disease
aromatase excess syndrome
Source Database
DisGeNET
Description
Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolism.
Pubmed
25301327
Section of the abstract supporting the evidence
TITLE
Number of the section of the abstract supporting the evidence
0
Number of the sentence supporting the evidence
0
Original source reporting the Gene Disease association
BeFree,GAD,MGD,ORPHANET
DisGENET score for the Gene Disease association
0.206710101931887
Drugs