IKZF2, IKAROS family zinc finger 2, 22807

N. diseases: 39; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.010 Biomarker disease BEFREE Nevertheless, how the expression of TIGIT, FCRL3, HELIOS, and FOXP3E2 is regulated in chronic autoimmune thyroiditis (AT), is not known. 29890552 2019
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		0.010 Biomarker disease BEFREE Nevertheless, how the expression of TIGIT, FCRL3, HELIOS, and FOXP3E2 is regulated in chronic autoimmune thyroiditis (AT), is not known. 29890552 2019
CUI: C1302547
Disease: Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma 		0.010 Biomarker disease BEFREE In the HELIOS trial, bendamustine/rituximab (BR) plus ibrutinib (BR-I) improved disease outcomes versus BR plus placebo in previously treated chronic lymphocytic leukemia/small lymphocytic lymphoma. 31044267 2019
CUI: C1378511
Disease: Undifferentiated leukemia
Undifferentiated leukemia 		0.010 Biomarker disease BEFREE IKZF2 Drives Leukemia Stem Cell Self-Renewal and Inhibits Myeloid Differentiation. 30472158 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 AlteredExpression disease BEFREE Inversely, the Helios gene expression was elevated significantly in RA patients group (P = 0.048). 29851536 2018
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		0.010 AlteredExpression disease BEFREE Targeting the Vdr gene in T cells decreased Ikzf2 and Bhmt1 gene expression, reduced DNA methylation, and elevated systemic homocysteine in mice with EAE. 30267995 2018
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.010 GeneticVariation disease BEFREE Helios is expressed in postnatal mouse OHCs, and in the cello mouse model a point mutation in Ikzf2 causes early-onset sensorineural hearing loss. 30464345 2018
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.010 Biomarker disease BEFREE Conserved vitamin D-responsive element (VDRE)-type sequences in the Bhmt1 and Ikzf2 promoters, the universal need for methionine in epigenetic regulation, and betaine's protective effects in MTHFR-deficiency suggest similar regulatory mechanisms exist in humans. 30267995 2018
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0.010 Biomarker disease BEFREE Conserved vitamin D-responsive element (VDRE)-type sequences in the Bhmt1 and Ikzf2 promoters, the universal need for methionine in epigenetic regulation, and betaine's protective effects in MTHFR-deficiency suggest similar regulatory mechanisms exist in humans. 30267995 2018
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		0.010 AlteredExpression disease BEFREE In the peripheral blood, T<sub>reg</sub> subsets classified according to CD49d, HELIOS and CD45RA expression changed after thymectomy and in the long-term course of immunosuppression. 28286113 2017
CUI: C0152066
Disease: Lobomycosis
Lobomycosis 		0.010 AlteredExpression disease BEFREE Biopsies of JLD lesions (N = 102) were classified according to their clinical and histopathological features and then analyzed using real-time PCR in order to determine the expression levels of TGF-β1, FoxP3, CTLA4, IKZF2, IL-10, T-bet, IFN-γ, GATA3, IL-4, IL-5, IL-13, IL-33, RORC, IL-17A, IL-17F, and IL-22 and to compare these levels to those of healthy control skin (N = 12). 26700881 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE Nine of ten top-scoring Helios genes are known drivers of breast cancer, and in vitro validation of 12 candidates predicted by Helios found ten conferred enhanced anchorage-independent growth, demonstrating Helios's exquisite sensitivity and specificity. 25433701 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE Nine of ten top-scoring Helios genes are known drivers of breast cancer, and in vitro validation of 12 candidates predicted by Helios found ten conferred enhanced anchorage-independent growth, demonstrating Helios's exquisite sensitivity and specificity. 25433701 2014
CUI: C2697638
Disease: Hypodiploid B Acute Lymphoblastic Leukemia
Hypodiploid B Acute Lymphoblastic Leukemia 		0.010 GeneticVariation disease BEFREE In contrast, low-hypodiploid ALL with 32-39 chromosomes are characterized by alterations in TP53 (91.2%) that are commonly present in nontumor cells, IKZF2 (encoding HELIOS; 53%) and RB1 (41%). 23334668 2013
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell 		0.010 GeneticVariation disease BEFREE HELIOS-BCL11B fusion gene involvement in a t(2;14)(q34;q32) in an adult T-cell leukemia patient. 22867996 2012
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 GeneticVariation group BEFREE Molecular cloning of the breakpoint revealed that the reciprocal translocation fused the 5' proximal region of the B-cell lymphoma 11B (BCL11B) gene segment (on 14q32) to the third intron of the HELIOS gene (on 2q34). 22867996 2012
CUI: C0014457
Disease: Eosinophilia
Eosinophilia 		0.010 GeneticVariation disease BEFREE We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. 19860791 2010
CUI: C1306759
Disease: Eosinophilic disorder
Eosinophilic disorder 		0.010 GeneticVariation group BEFREE We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. 19860791 2010
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 AlteredExpression group LHGDN Aberrant Ikaros, Aiolos, and Helios expression in Hodgkin and non-Hodgkin lymphoma. 18332232 2008
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 Biomarker disease BEFREE Human GSDII cell lines (fibroblasts and lymphoid) as well as ex vivo with adult-onset peripheral blood cells (lymphocytes and monocytes) were transiently transfected by bombardment with a Helios gene gun delivering gold particles coated with the GAA expression plasmid. 12443541 2002
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 Biomarker disease BEFREE Human GSDII cell lines (fibroblasts and lymphoid) as well as ex vivo with adult-onset peripheral blood cells (lymphocytes and monocytes) were transiently transfected by bombardment with a Helios gene gun delivering gold particles coated with the GAA expression plasmid. 12443541 2002