Annotation Detail
Information
- Associated Genes
- IGF1R
- Associated Variants
-
IGF1R MUTATION
IGF1R MUTATION - Associated Disease
- Chromosome 15q, trisomy
- Source Database
- DisGeNET
- Description
- The distal partial trisomy 15q included the insulin-like growth factor 1 receptor gene involved with growth, while genes in the distal partial monosomy 16p region are involved with alpha hemoglobin production, intellectual disability, dysmorphic features, and acromegaly.
- Pubmed
- 25871641
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs