Annotation Detail
Information
- Associated Genes
- IGF1
- Associated Variants
-
IGF1 MUTATION
IGF1 MUTATION - Associated Disease
- Pituitary dwarfism
- Source Database
- DisGeNET
- Description
- Patients with severe IGHD had a higher frequency of consanguinity, were shorter, had lower levels of IGF-1 and IGFBP-3, and despite treatment with lower GH doses had a greater growth response than patients with GH peak ≥3.3 μg/L.
- Pubmed
- 25116472
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 5
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
Drugs