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: 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: 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: 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: 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: C0025202
Disease: melanoma
melanoma
0.050 AlteredExpression disease BEFREE GILT protein expression in melanocytes was induced in halo nevi, which are nevi undergoing immune-mediated regression, and is consistent with the association of GILT expression with improved survival in melanoma. 31591149 2019
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: 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: 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: 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: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE Also, the knockdown of GILT inhibits tumor growth in vivo. 30587343 2019
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: C0017638
Disease: Glioma
Glioma
0.010 AlteredExpression disease BEFREE GILT was highly expressed as observed in the public database on human gliomas and two human glioma cell lines, U373MG and U87MG cells. 30587343 2019
CUI: C0023092
Disease: Lassa Fever
Lassa Fever
0.010 Biomarker disease BEFREE While overexpression of GILT inhibited the entry mediated by envelope glycoproteins of SARS coronavirus (SARS-CoV), Ebola virus (EBOV) and Lassa fever virus (LASV), depletion of GILT enhanced the entry mediated by these viral envelope glycoproteins. 31631785 2019
CUI: C0282687
Disease: Hemorrhagic Fever, Ebola
Hemorrhagic Fever, Ebola
0.010 Biomarker disease BEFREE While overexpression of GILT inhibited the entry mediated by envelope glycoproteins of SARS coronavirus (SARS-CoV), Ebola virus (EBOV) and Lassa fever virus (LASV), depletion of GILT enhanced the entry mediated by these viral envelope glycoproteins. 31631785 2019
CUI: C0474824
Disease: Halo nevus
Halo nevus
0.010 AlteredExpression disease BEFREE GILT protein expression in melanocytes was induced in halo nevi, which are nevi undergoing immune-mediated regression, and is consistent with the association of GILT expression with improved survival in melanoma. 31591149 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE However, the role of GILT in the tumorigenesis of glioma remains unknown. 30587343 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 Biomarker group BEFREE Through manipulation of the balance between oxidative and reductive capacities in the phagosome-principally by modulating NADPH oxidase (NOX2) and γ-interferon-inducible lysosomal thiol reductase (GILT) activities-studies have demonstrated changes to antigen processing patterns leading to modified repertoires of antigenic peptides available for presentation, and subsequently, altered disease progression in T cell-driven autoimmunity. 29578071 2018
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.010 AlteredExpression disease BEFREE Here we report that GILT expression inhibits a potential target, paired box-3 (PAX-3) protein, in late stage human metastatic melanoma. 28857256 2018
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
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
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: 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