Annotation Detail

Information
Associated Genes
IGF1
Associated Variants
IGF1 MUTATION
IGF1 MUTATION
Associated Disease
Dwarfism
Source Database
DisGeNET
Description
Given the relative common occurrence of defects of the GH/IGF-I axis in children with short stature and growth retardation, the association between ciliopathies and these defects needs further attention.
Pubmed
25664603
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
DisGENET score for the Gene Disease association
0.0200107536638218
Drugs