IGF2, insulin like growth factor 2, 3481

N. diseases: 604; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.130 GeneticVariation disease BEFREE Gene mutations in the IGF1 and IGF2 genes have been described in patients presenting intrauterine growth retardation and postnatal short stature. 29249625 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.130 AlteredExpression disease BEFREE Let-7b has higher expression in the skeletal muscle of dwarf chicken than in normal chicken, and the expression of insulin-like growth factor 2 mRNA binding protein 3 (<i>IGF2BP3</i>), which is a translational activator of IGF2, showed opposite expression trend to let-7b. 28736533 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.130 AlteredExpression disease BEFREE We report a case of short stature associated with high circulating levels of insulin-like growth factor (IGF)-binding protein-1 (IGFBP-10 and low levels of IGF-II responsive to pharmacological treatment with GH. 9768660 1998
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.130 Biomarker disease HPO