IFI30, IFI30 lysosomal thiol reductase, 10437

N. diseases: 28; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
0.010 Biomarker group BEFREE Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation? 9571201 1998
CUI: C0025202
Disease: melanoma
melanoma
0.050 Biomarker disease LHGDN The absence of GILT in melanomas altered antigen processing and the hierarchy of immunodominant epitope presentation. 12021307 2002
CUI: C0025202
Disease: melanoma
melanoma
0.050 AlteredExpression disease BEFREE In contrast with professional APCs such as B cells, class II-positive human melanomas expressed relatively little to no GILT protein or mRNA. 15240658 2004
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.300 Biomarker disease CTD_human Discovery of epigenetically silenced genes in acute myeloid leukemias. 17330099 2007
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1
0.300 Biomarker disease CTD_human Discovery of epigenetically silenced genes in acute myeloid leukemias. 17330099 2007
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2)
0.300 Biomarker disease CTD_human Discovery of epigenetically silenced genes in acute myeloid leukemias. 17330099 2007
CUI: C0162820
Disease: Dermatitis, Allergic Contact
Dermatitis, Allergic Contact
0.300 Biomarker disease CTD_human Gene expression time course in the human skin during elicitation of allergic contact dermatitis. 17597826 2007
CUI: C0025202
Disease: melanoma
melanoma
0.050 Biomarker disease LHGDN These data suggest that GILT-expressing melanoma cells could prove to be very promising for direct antigen presentation and CD4+ T cell recognition, and may have direct implications for the design of cancer vaccines. 18343923 2008
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.010 Biomarker disease BEFREE Pathologically, CD68(+) macrophages and microglia expressed intense immunoreactivities for IFI30 and CD163 in NMO lesions, consisting of inflammatory demyelination, axonal loss, necrosis, cavity formation, and vascular fibrosis. 18410276 2008
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.010 AlteredExpression disease LHGDN Neuromyelitis optica/Devic's disease: gene expression profiling of brain lesions. 18410276 2008
Experimental Organism Basal Cell Carcinoma
0.010 AlteredExpression phenotype BEFREE Additionally, we found increased expression of interferon (IFN)-regulated genes (including IFI27, IFI30, Mx1, IRF1 and CXCL9) in SCC, and to a lower extent in BCC. 18770863 2008
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.010 AlteredExpression disease BEFREE Additionally, we found increased expression of interferon (IFN)-regulated genes (including IFI27, IFI30, Mx1, IRF1 and CXCL9) in SCC, and to a lower extent in BCC. 18770863 2008
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 GeneticVariation group BEFREE Given the importance of low-grade inflammation in obesity-related metabolic complications, we hypothesized that variants in the IFI30 gene are associated with cardiovascular disease (CVD) risk factors. 21701784 2012
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.010 GeneticVariation disease BEFREE A polymorphism of the interferon-gamma-inducible protein 30 gene is associated with hyperglycemia in severely obese individuals. 21701784 2012
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 AlteredExpression disease BEFREE A previous expression profiling of visceral adipose tissue (VAT) revealed that the immune response gene interferon-gamma-inducible protein 30 (IFI30) gene was 1.72-fold more highly expressed in non-diabetic severely obese men with the metabolic syndrome as compared to those without. 21701784 2012
CUI: C0028754
Disease: Obesity
Obesity
0.010 GeneticVariation disease BEFREE The IFI30 rs11554159 polymorphism could partially explain the inter-individual variability observed in the inflammatory profile associated with obesity. 22178353 2012
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.010 Biomarker disease BEFREE The results show that administering 500 μL of NMP via IV or IP 30 min in advance enables surgical procedures to be safely performed on HB mice, and that IV administration is more desirable than IP if the procedure requires opening of the abdominal wall. 23855819 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE The role of gamma-interferon-inducible lysosomal thiol reductase (GILT) in tumor immunosurveillance has recently been studied in several malignant diseases, but its role in breast cancer remains to be elucidated. 25333930 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 Biomarker disease BEFREE In addition, absence of GILT was positively correlated with adverse characteristics of breast cancers, such as histological type, tumor size, lymph nodes status, and pTNM stage (P<0.05). 25333930 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 AlteredExpression disease BEFREE To further determine the role of GILT in breast cancer, we examined GILT expression in breast cancers as well as noncancerous breast tissues by immunohistochemistry and real-time PCR, and assessed its association with clinicopathologic characteristics and patient outcome. 25333930 2014
CUI: C1519680
Disease: Tumor Immunity
Tumor Immunity
0.010 Biomarker phenotype BEFREE These findings indicate that GILT may act as a tumor suppressor in breast cancer, in line with its previously suggested role in anti-tumor immunity. 25333930 2014
CUI: C0025202
Disease: melanoma
melanoma
0.050 Biomarker disease BEFREE GILT staining in antigen-presenting cells (APCs) was detected in 100% of primary and metastatic melanomas versus 31% of nevi, and it was typically intense. 26930048 2016
CUI: C0206769
Disease: Nevi and Melanomas
Nevi and Melanomas
0.010 AlteredExpression group BEFREE We evaluated GILT and MHC class II expression in human primary and metastatic melanomas and nevi using immunohistochemical analysis. 26930048 2016
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation disease BEFREE FTO (OR = 1.71; CI<sub>95 %</sub> = 1.14-2.57; p = 0.008) and APOB (OR = 0.31; CI<sub>95 %</sub> = 0.14-0.72; p = 0.004) result is statistically associated to high blood pressure and FTO (OR = 2.0; CI<sub>95 %</sub> = 1.3-3.1; p = 0.001), GNB3 (OR = 2.69; CI<sub>95 %</sub> = 1.0-7.2; p = 0.04), IFI30 (OR = 2.0; CI<sub>95 %</sub> = 1.16-3.6; p = 0.01), and MC4R (OR = 1.81; CI<sub>95 %</sub> = 1.13-2.9; p = 0.01) to type 2 diabetes (T2D). 28035522 2017