Annotation Detail

Information
Associated Genes
IGF1
Associated Variants
IGF1 MUTATION
IGF1 MUTATION
Associated Disease
acromegaly
Source Database
DisGeNET
Description
The d3-GHR variant genotype did not have an effect on clinical features or comorbidity in acromegalic patients, but it might play a role in GH/IGF-1 level discordance in acromegaly.
Pubmed
24706164
Section of the abstract supporting the evidence
CONCLUSION
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
13
Original source reporting the Gene Disease association
BeFree,CTD_human,GAD,LHGDN
DisGENET score for the Gene Disease association
0.13486328961596
Drugs