Annotation Detail

Information
Associated Genes
CYP11B2
Associated Variants
CYP11B2 MUTATION
CYP11B2 MUTATION
Associated Disease
Conn Syndrome
Source Database
DisGeNET
Description
Only a minority of the PA cases are familial and due to known (CYP11B2/CYP11B1 chimeric gene or mutations in the KCNJ5 gene) or unknown causes.
Pubmed
25555247
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
2
Original source reporting the Gene Disease association
BeFree,GAD
DisGENET score for the Gene Disease association
0.00915307878060962
Drugs