Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 Biomarker disease BEFREE The role of G-quadruplex, a non-B DNA, was explored for the splicing alteration of IGFN1 in RCC. 30335789 2018
Exudative age-related macular degeneration
0.010 GeneticVariation disease BEFREE A novel variant, c.6196A>G in the IGFN1 gene, was significantly associated with only PCV (combined p = 7.1 × 10<sup>-11</sup> , odds ratio = 9.44), but not with nAMD (combined p = 0.683, odds ratio = 1.30). 29323771 2018
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.010 Biomarker disease BEFREE The IGFN1 (Immunoglobulin-Like And Fibronectin Type III Domain Containing 1) gene has a role in skeletal muscle function and is also involved in metastatic breast cancer, and the isoforms with three N-terminal globular domains are sufficient for its function in skeletal muscle. 30335789 2018
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 Biomarker disease BEFREE The role of G-quadruplex, a non-B DNA, was explored for the splicing alteration of IGFN1 in RCC. 30335789 2018
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy
0.010 GeneticVariation disease BEFREE A novel variant, c.6196A>G in the IGFN1 gene, was significantly associated with only PCV (combined p = 7.1 × 10<sup>-11</sup> , odds ratio = 9.44), but not with nAMD (combined p = 0.683, odds ratio = 1.30). 29323771 2018
CUI: C2063389
Disease: Retroperitoneal liposarcoma
Retroperitoneal liposarcoma
0.010 Biomarker disease BEFREE We have retrospectively genotyped 8 single nucleotide polymorphisms (SNPs) in 6 candidate genes (MDM2, CDK4, CDC27, FPGS, IGFN1, and PRAMEF13) in 138 patients and 131 healthy control subjects to evaluate the effects of genetic factors on individual susceptibility to primary retroperitoneal liposarcoma in Chinese population. 25765001 2015