IGF2R, insulin like growth factor 2 receptor, 3482

N. diseases: 166; N. variants: 18
Disease: Turcot syndrome (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.020 Biomarker disease BEFREE DNA was extracted from paraffin embedded tissue by microdissection and analysed for the presence of microsatellite instability (MSI) and mutations in five genes known to be targets in mismatch repair deficiency (TGFbetaRII, IGF2R, BAX, hMSH3, and hMSH6). 10861262 2000
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.020 GeneticVariation disease BEFREE Mismatch repair deficiency is thought to lead to mutation and inactivation of the genes for type II TGF-beta receptor and insulin-like growth-factor II receptor. 9438104 1998