Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0013537
Disease: Eclampsia
Eclampsia 		0.020 AlteredExpression disease BEFREE Decreased level of KIR2DL4 rather than its SNP is correlated with the susceptibility of pre-eclampsia. 26823774 2015
CUI: C0013537
Disease: Eclampsia
Eclampsia 		0.020 GeneticVariation disease BEFREE Alleles of the KIR2DL4 receptor and their lack of association with pre-eclampsia. 11754000 2002
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 GeneticVariation disease BEFREE In this study we investigated whether HLA-G, KIR2DL4, LILRB1 and LILRB2 polymorphisms may influence susceptibility to endometriosis and disease progression. 29234882 2018
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
Histiocytosis, Langerhans-Cell 		0.010 AlteredExpression disease BEFREE We also confirmed the expression of KIR2DL4 mRNA and protein in the human LCH-like cell lines ELD-1 and PRU-1. 28445138 2017
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 Biomarker group BEFREE The function of KIR2DL4 has been reported in human natural killer cell lymphoma and mastocytosis, but not in Langerhans cell histiocytosis (LCH). 28445138 2017
CUI: C0024899
Disease: Mastocytosis
Mastocytosis 		0.010 Biomarker disease BEFREE The function of KIR2DL4 has been reported in human natural killer cell lymphoma and mastocytosis, but not in Langerhans cell histiocytosis (LCH). 28445138 2017
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 Biomarker disease BEFREE The function of KIR2DL4 has been reported in human natural killer cell lymphoma and mastocytosis, but not in Langerhans cell histiocytosis (LCH). 28445138 2017
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.010 Biomarker disease BEFREE The function of KIR2DL4 has been reported in human natural killer cell lymphoma and mastocytosis, but not in Langerhans cell histiocytosis (LCH). 28445138 2017
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 AlteredExpression disease BEFREE CP was characterized by the increased expression of genes related to responses to external stimuli and an under-expression of immune system-related genes. qRT-PCR analysis confirmed the microarray results, that KIR2DL4, IL6 and SELE were highly expressed in GAgP than CP or H patients. 28844188 2017
CUI: C3899655
Disease: Childhood Langerhans Cell Histiocytosis
Childhood Langerhans Cell Histiocytosis 		0.010 AlteredExpression disease BEFREE Killer cell immunoglobulin-like receptor 2DL4 is expressed in and suppresses the cell growth of Langerhans cell histiocytosis. 28445138 2017
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis 		0.010 AlteredExpression disease BEFREE Killer cell immunoglobulin-like receptor 2DL4 is expressed in and suppresses the cell growth of Langerhans cell histiocytosis. 28445138 2017
CUI: C4552766
Disease: Miscarriage
Miscarriage 		0.010 GeneticVariation disease BEFREE Multivariate analysis indicated that women's -716 HLA-G and LILRB1 and men's KIR2DL4 9A/10A are important in terms of the protection or susceptibility to miscarriage, respectively (p = 0.00968). 26973020 2016
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 GeneticVariation disease BEFREE We attempted to find out whether some polymorphisms of HLA-G, LILRB1 and KIR2DL4 genes are associated with susceptibility to nonsmall cell lung cancer (NSCLC).Four polymorphisms in HLA-G, i.e. 25855135 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE These findings suggest that the KIR2DL4 on human mast cells facilitates HLA-G-expressing cancer invasion and the subsequent metastasis. 25735953 2015
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 Biomarker disease BEFREE Next, we performed a coculture assay between LAD2 cells and the HLA-G(+) cancer cells, MCF-7 and JEG-3, and showed that KIR2DL4 on LAD2 cells enhanced MMP-9 production and the invasive activity of both cell lines via HLA-G. Immunohistochemical analysis revealed that the direct interaction between HLA-G(+) breast cancer cells and KIR2DL4(+) tissue mast cells (observed in 12 of 36 cases; 33.3%) was statistically correlated with the presence of lymph node metastasis or lymph-vascular invasion (observed in 11 of 12 cases; 91.7%; χ(2) = 7.439; P < 0.01; degrees of freedom, 1) in the clinical samples. 25735953 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Next, we performed a coculture assay between LAD2 cells and the HLA-G(+) cancer cells, MCF-7 and JEG-3, and showed that KIR2DL4 on LAD2 cells enhanced MMP-9 production and the invasive activity of both cell lines via HLA-G. Immunohistochemical analysis revealed that the direct interaction between HLA-G(+) breast cancer cells and KIR2DL4(+) tissue mast cells (observed in 12 of 36 cases; 33.3%) was statistically correlated with the presence of lymph node metastasis or lymph-vascular invasion (observed in 11 of 12 cases; 91.7%; χ(2) = 7.439; P < 0.01; degrees of freedom, 1) in the clinical samples. 25735953 2015
CUI: C0004096
Disease: Asthma
Asthma 		0.010 GeneticVariation disease BEFREE No reproducible associations with KIR2DL4 genotype were identified, leading us to conclude that the KIR2DL4 9A/10A polymorphism has no influence on susceptibility to asthma. 24033084 2013
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 GeneticVariation disease BEFREE The KIR3DL3 and KIR2DL4 genes are novel susceptibility genes that have not been reported in association with BD. 24136464 2013
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		0.010 Biomarker disease BEFREE Here, we demonstrate that KIR2DL4 copy number variation (CNV) is associated with CD4(+) T-cell decline and functionality of cytokine-producing NK cells during primary simian immunodeficiency virus (SIV) infection in Mamu-A*01(-) Indian-origin rhesus macaques, with higher KIR2DL4 copy numbers being associated with a better preservation of CD4(+) T cells and an increased gamma interferon (IFN-γ) production from stimulated cytokine-producing NK cell subsets during acute SIVmac251 infection. 23449795 2013
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		0.010 Biomarker disease BEFREE Abs to the stimulatory molecule KIR2DL4 triggered IFN-gamma release by lupus T cells, and production was proportional to disease activity. 19675166 2009
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		0.010 Biomarker disease BEFREE Abs to the stimulatory molecule KIR2DL4 triggered IFN-gamma release by lupus T cells, and production was proportional to disease activity. 19675166 2009
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 Biomarker disease BEFREE Abs to the stimulatory molecule KIR2DL4 triggered IFN-gamma release by lupus T cells, and production was proportional to disease activity. 19675166 2009
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 GeneticVariation disease BEFREE Whereas 26% of the study population has a genotype corresponding to a lack of any functional membrane-bound form of the molecule, no association of the KIR2DL4 transmembrane alleles with susceptibility to MS was observed. 19304328 2009
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		0.010 Biomarker disease BEFREE Abs to the stimulatory molecule KIR2DL4 triggered IFN-gamma release by lupus T cells, and production was proportional to disease activity. 19675166 2009