Annotation Detail

Information
Associated Genes
CYP19A1
Associated Variants
CYP19A1 MUTATION
CYP19A1 MUTATION
Associated Disease
aromatase excess syndrome
Source Database
DisGeNET
Description
Since 1991, several molecular CYP19A1 gene alterations associated with aromatase deficiency have been described in both sexes.
Pubmed
25415177
Section of the abstract supporting the evidence
CONTEXT
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree,GAD,MGD,ORPHANET
DisGENET score for the Gene Disease association
0.206710101931887
Drugs