KIR2DL1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of isotype switching to IgG isotypes (GO:0048302)9.76913618
2activated T cell proliferation (GO:0050798)9.68401160
3lens fiber cell development (GO:0070307)9.07701812
4positive regulation of isotype switching (GO:0045830)7.65420743
5positive regulation of DNA recombination (GO:0045911)6.63332590
6interferon-gamma production (GO:0032609)6.19945654
7negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.63581088
8negative regulation of cell killing (GO:0031342)5.63581088
9regulation of B cell receptor signaling pathway (GO:0050855)5.45093574
10positive regulation of B cell mediated immunity (GO:0002714)5.40557425
11positive regulation of immunoglobulin mediated immune response (GO:0002891)5.40557425
12antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.27912966
13regulation of NFAT protein import into nucleus (GO:0051532)5.18690894
14dopamine transport (GO:0015872)5.14540342
15pyrimidine ribonucleoside monophosphate metabolic process (GO:0009173)5.12524017
16UMP biosynthetic process (GO:0006222)5.12524017
17pyrimidine ribonucleoside monophosphate biosynthetic process (GO:0009174)5.12524017
18UMP metabolic process (GO:0046049)5.12524017
19leukotriene biosynthetic process (GO:0019370)5.05112672
20regulation of isotype switching (GO:0045191)4.95798029
21toxin transport (GO:1901998)4.95700508
22histamine transport (GO:0051608)4.93645688
23lymphocyte migration (GO:0072676)4.78620443
24antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.75988369
25mast cell activation involved in immune response (GO:0002279)4.75835307
26mast cell degranulation (GO:0043303)4.75835307
27cellular response to interleukin-15 (GO:0071350)4.73375727
28positive regulation of immunoglobulin production (GO:0002639)4.72899275
29positive regulation of gamma-delta T cell activation (GO:0046645)4.70679624
30leukocyte aggregation (GO:0070486)4.53381703
31antigen processing and presentation of endogenous antigen (GO:0019883)4.45209366
32response to interleukin-15 (GO:0070672)4.24645996
33negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)4.23341554
34nucleobase biosynthetic process (GO:0046112)4.21800401
35macrophage activation involved in immune response (GO:0002281)4.21096675
36mast cell activation (GO:0045576)4.09592865
37positive regulation of T cell cytokine production (GO:0002726)4.07531250
38antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.03257818
39negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.98554142
40pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)3.96842355
41negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.94051373
42negative regulation of T-helper cell differentiation (GO:0045623)3.94051373
43positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.91555141
44positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003603.90763517
45myeloid cell activation involved in immune response (GO:0002275)3.87532197
46cellular response to exogenous dsRNA (GO:0071360)3.86330201
47microglial cell activation (GO:0001774)3.83315948
48regulation of immunoglobulin mediated immune response (GO:0002889)3.82862304
49leukotriene metabolic process (GO:0006691)3.78617199
50regulation of B cell mediated immunity (GO:0002712)3.77838696
51pyrimidine nucleoside monophosphate metabolic process (GO:0009129)3.76930044
52leukocyte degranulation (GO:0043299)3.72473194
53peripheral nervous system neuron development (GO:0048935)3.67557699
54positive regulation of lymphocyte mediated immunity (GO:0002708)3.64316565
55cytolysis (GO:0019835)3.61482593
56neutrophil activation involved in immune response (GO:0002283)3.60758344
57cellular response to interferon-beta (GO:0035458)3.54750287
58response to laminar fluid shear stress (GO:0034616)3.51062050
59organic cation transport (GO:0015695)3.49409240
60regulation of natural killer cell mediated immunity (GO:0002715)3.41564005
61regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.41564005
62catecholamine transport (GO:0051937)3.41251903
63positive regulation of production of molecular mediator of immune response (GO:0002702)3.40541654
64regulation of gamma-delta T cell activation (GO:0046643)3.40337577
65positive regulation of leukocyte mediated immunity (GO:0002705)3.39012604
66regulation of gamma-delta T cell differentiation (GO:0045586)3.38800010
67regulation of immunoglobulin production (GO:0002637)3.37390046
68regulation of necroptotic process (GO:0060544)3.36759294
69positive regulation of adaptive immune response based on somatic recombination of immune receptors b3.35297046
70response to interferon-beta (GO:0035456)3.28914897
71T cell proliferation (GO:0042098)3.25838786
72positive regulation of adaptive immune response (GO:0002821)3.20840954
73neurotransmitter uptake (GO:0001504)3.17439200
74positive regulation of B cell activation (GO:0050871)3.15031559
75regulation of T cell cytokine production (GO:0002724)3.14766116
76negative regulation of lymphocyte mediated immunity (GO:0002707)3.12962256
77regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)3.10786599
78positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO3.10786599
79positive regulation of calcium-mediated signaling (GO:0050850)3.09519006
80regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.09398847
81cellular response to fluid shear stress (GO:0071498)3.09104737
82regulation of lymphocyte mediated immunity (GO:0002706)3.08578380
83leukocyte cell-cell adhesion (GO:0007159)3.07506882
84regulation of defense response to virus by virus (GO:0050690)3.06450033
85cell-cell junction maintenance (GO:0045217)3.05924792
86negative thymic T cell selection (GO:0045060)3.04751626
87cellular extravasation (GO:0045123)3.04204395
88detection of bacterium (GO:0016045)3.01980699
89lysosome localization (GO:0032418)3.01259494
90detection of other organism (GO:0098543)2.99759691
91cellular defense response (GO:0006968)2.98608915
92regulation of germinal center formation (GO:0002634)2.98060871
93leukocyte migration involved in inflammatory response (GO:0002523)2.95679626
94negative T cell selection (GO:0043383)2.94326948
95negative regulation of necroptotic process (GO:0060546)2.92237800
96immunoglobulin mediated immune response (GO:0016064)2.90981718
97regulation of hypersensitivity (GO:0002883)2.88515257
98T cell activation involved in immune response (GO:0002286)2.87088542
99base-excision repair, AP site formation (GO:0006285)2.86950318
100negative regulation of alpha-beta T cell activation (GO:0046636)2.86606308

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1STAT6_21828071_ChIP-Seq_BEAS2B_Human8.28040766
2STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.04632467
3CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.80042200
4IRF8_22096565_ChIP-ChIP_GC-B_Human3.42707424
5BP1_19119308_ChIP-ChIP_Hs578T_Human3.07933274
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.05238599
7RUNX_20019798_ChIP-Seq_JUKART_Human2.94341594
8RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.89414963
9IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.87816175
10STAT4_19710469_ChIP-ChIP_TH1__Mouse2.87175535
11PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.79980106
12STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.77335608
13MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.67699141
14LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.67323303
15IRF8_21731497_ChIP-ChIP_J774_Mouse2.44516814
16LMO2_20887958_ChIP-Seq_HPC-7_Mouse2.42983387
17FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.37601382
18MAF_26560356_Chip-Seq_TH1_Human2.34936631
19FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.27217984
20VDR_21846776_ChIP-Seq_THP-1_Human2.18647908
21MYB_26560356_Chip-Seq_TH2_Human2.15481501
22VDR_24763502_ChIP-Seq_THP-1_Human2.14170291
23IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.03223107
24MYB_26560356_Chip-Seq_TH1_Human2.02976392
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.02973619
26SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.97323452
27UTX_26944678_Chip-Seq_JUKART_Human1.97291361
28IRF8_27001747_Chip-Seq_BMDM_Mouse1.97095341
29SCL_19346495_ChIP-Seq_HPC-7_Human1.94467097
30GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.88463312
31SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.87018679
32MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.86427624
33CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.84564074
34GATA3_27048872_Chip-Seq_THYMUS_Human1.78277834
35ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.75354572
36GATA3_26560356_Chip-Seq_TH2_Human1.71598958
37E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.67147169
38SPI1_23127762_ChIP-Seq_K562_Human1.66077745
39* CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.65741698
40SPI1_23547873_ChIP-Seq_NB4_Human1.64887529
41BRD4_27068464_Chip-Seq_AML-cells_Mouse1.60476910
42IKZF1_21737484_ChIP-ChIP_HCT116_Human1.58233426
43RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.51296435
44EGR1_19032775_ChIP-ChIP_M12_Human1.51014580
45VDR_24787735_ChIP-Seq_THP-1_Human1.48921760
46NOTCH1_21737748_ChIP-Seq_TLL_Human1.45895685
47MYB_21317192_ChIP-Seq_ERMYB_Mouse1.44830383
48KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.40975253
49NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.37949128
50MAF_26560356_Chip-Seq_TH2_Human1.36097929
51GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.30598225
52KDM2B_26808549_Chip-Seq_DND41_Human1.27960694
53RUNX1_22412390_ChIP-Seq_EML_Mouse1.25237415
54ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.24776178
55KDM2B_26808549_Chip-Seq_SUP-B15_Human1.22675681
56SMAD_19615063_ChIP-ChIP_OVARY_Human1.22098131
57MYC_22102868_ChIP-Seq_BL_Human1.16500950
58BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.16006380
59TCF7_22412390_ChIP-Seq_EML_Mouse1.15938286
60GATA1_19941827_ChIP-Seq_MEL_Mouse1.15518758
61RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.14432561
62PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.13761675
63SPI1_20517297_ChIP-Seq_HL60_Human1.11849741
64KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.11228675
65FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.07766662
66ELF1_20517297_ChIP-Seq_JURKAT_Human1.05945443
67PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.03779909
68DROSHA_22980978_ChIP-Seq_HELA_Human1.02772156
69LXR_22292898_ChIP-Seq_THP-1_Human1.02661059
70PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.01797834
71SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00320207
72FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.98561793
73TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.97745771
74GATA1_19941826_ChIP-Seq_K562_Human0.96588186
75GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.96401630
76BCL6_27268052_Chip-Seq_Bcells_Human0.96229448
77BCAT_22108803_ChIP-Seq_LS180_Human0.95768738
78GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94722834
79GATA1_26923725_Chip-Seq_HPCs_Mouse0.93832600
80GATA2_22383799_ChIP-Seq_G1ME_Mouse0.91832540
81CDX2_19796622_ChIP-Seq_MESCs_Mouse0.90943986
82SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.90407594
83CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.89994963
84STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.89217663
85PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.88975095
86KDM2B_26808549_Chip-Seq_JURKAT_Human0.88921299
87GATA1_19941827_ChIP-Seq_MEL86_Mouse0.88780105
88VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.87828848
89CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.84652947
90GF1_26923725_Chip-Seq_HPCs_Mouse0.80837860
91GATA3_26560356_Chip-Seq_TH1_Human0.80582665
92THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.78879020
93VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.77401370
94BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.76818224
95* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.76084554
96FOXO3_23340844_ChIP-Seq_DLD1_Human0.74422369
97RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.72906776
98P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.72404746
99CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.71902312
100PHF8_20622854_ChIP-Seq_HELA_Human0.71618673

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006082_CNS_inflammation7.97130380
2MP0002132_abnormal_respiratory_system7.70236259
3MP0005671_abnormal_response_to4.13500990
4MP0003724_increased_susceptibility_to3.38981336
5MP0000858_altered_metastatic_potential3.31617462
6MP0003763_abnormal_thymus_physiology2.97455628
7MP0001800_abnormal_humoral_immune2.92086654
8MP0002405_respiratory_system_inflammati2.79854964
9MP0005000_abnormal_immune_tolerance2.73601110
10MP0003300_gastrointestinal_ulcer2.70257665
11MP0001873_stomach_inflammation2.58271787
12MP0001835_abnormal_antigen_presentation2.54511681
13MP0003436_decreased_susceptibility_to2.53471332
14MP0005408_hypopigmentation2.48992076
15MP0010155_abnormal_intestine_physiology2.37230869
16MP0009785_altered_susceptibility_to2.35491689
17MP0005025_abnormal_response_to2.29304311
18MP0002723_abnormal_immune_serum2.22781934
19MP0002419_abnormal_innate_immunity2.19203030
20MP0004883_abnormal_blood_vessel2.09382363
21MP0002420_abnormal_adaptive_immunity2.05245512
22MP0002452_abnormal_antigen_presenting2.05056360
23MP0003828_pulmonary_edema2.04745915
24MP0001819_abnormal_immune_cell2.04254464
25MP0005464_abnormal_platelet_physiology2.01546334
26MP0003690_abnormal_glial_cell2.01541466
27MP0009333_abnormal_splenocyte_physiolog1.92317412
28MP0005167_abnormal_blood-brain_barrier1.91130311
29MP0001790_abnormal_immune_system1.81583292
30MP0005387_immune_system_phenotype1.81583292
31MP0000685_abnormal_immune_system1.81070962
32MP0002398_abnormal_bone_marrow1.67546399
33MP0009697_abnormal_copulation1.65728618
34MP0001845_abnormal_inflammatory_respons1.64900694
35MP0000716_abnormal_immune_system1.57651131
36MP0008469_abnormal_protein_level1.51924051
37MP0002722_abnormal_immune_system1.42535409
38MP0003303_peritoneal_inflammation1.40865627
39MP0000689_abnormal_spleen_morphology1.34557103
40MP0000703_abnormal_thymus_morphology1.31941647
41MP0003866_abnormal_defecation1.23928718
42MP0001663_abnormal_digestive_system1.20757410
43MP0002429_abnormal_blood_cell1.17136685
44MP0000465_gastrointestinal_hemorrhage1.16442162
45MP0005164_abnormal_response_to1.15697164
46MP0004782_abnormal_surfactant_physiolog1.14649475
47MP0001851_eye_inflammation1.14487416
48MP0002148_abnormal_hypersensitivity_rea1.13379688
49MP0001533_abnormal_skeleton_physiology1.12722811
50MP0004142_abnormal_muscle_tone1.11740759
51MP0002998_abnormal_bone_remodeling1.08231036
52MP0001915_intracranial_hemorrhage1.05016879
53MP0004947_skin_inflammation1.04858123
54MP0009764_decreased_sensitivity_to1.02602686
55MP0004084_abnormal_cardiac_muscle0.97147846
56MP0009278_abnormal_bone_marrow0.95772325
57MP0003045_fibrosis0.94324280
58MP0004381_abnormal_hair_follicle0.91891786
59MP0003183_abnormal_peptide_metabolism0.91479430
60MP0003252_abnormal_bile_duct0.88888567
61MP0000249_abnormal_blood_vessel0.84354054
62MP0004185_abnormal_adipocyte_glucose0.82026566
63MP0004036_abnormal_muscle_relaxation0.81918224
64MP0002933_joint_inflammation0.81258025
65MP0005397_hematopoietic_system_phenotyp0.81023446
66MP0001545_abnormal_hematopoietic_system0.81023446
67MP0000490_abnormal_crypts_of0.79426565
68MP0003638_abnormal_response/metabolism_0.76933096
69MP0005381_digestive/alimentary_phenotyp0.74613513
70MP0000920_abnormal_myelination0.68107608
71MP0005075_abnormal_melanosome_morpholog0.67995511
72MP0000767_abnormal_smooth_muscle0.67823054
73MP0005166_decreased_susceptibility_to0.67391636
74MP0005388_respiratory_system_phenotype0.66976254
75MP0002133_abnormal_respiratory_system0.66976254
76MP0001727_abnormal_embryo_implantation0.66679100
77MP0002928_abnormal_bile_duct0.65252135
78MP0001986_abnormal_taste_sensitivity0.63514535
79MP0008873_increased_physiological_sensi0.59296494
80MP0009763_increased_sensitivity_to0.58998435
81MP0005319_abnormal_enzyme/_coenzyme0.58632271
82MP0008874_decreased_physiological_sensi0.58099029
83MP0002019_abnormal_tumor_incidence0.56760521
84MP0002277_abnormal_respiratory_mucosa0.56356110
85MP0002166_altered_tumor_susceptibility0.55954362
86MP0004130_abnormal_muscle_cell0.52099120
87MP0000230_abnormal_systemic_arterial0.51992421
88MP0005647_abnormal_sex_gland0.51911130
89MP0003718_maternal_effect0.47801911
90MP0008004_abnormal_stomach_pH0.47678094
91MP0004510_myositis0.46544654
92MP0003191_abnormal_cellular_cholesterol0.45718854
93MP0003448_altered_tumor_morphology0.45648007
94MP0001853_heart_inflammation0.42047984
95MP0002127_abnormal_cardiovascular_syste0.42044663
96MP0000470_abnormal_stomach_morphology0.41849950
97MP0003633_abnormal_nervous_system0.41227940
98MP0005595_abnormal_vascular_smooth0.38735893
99MP0002136_abnormal_kidney_physiology0.38692305
100MP0004808_abnormal_hematopoietic_stem0.37665986

Predicted human phenotypes

RankGene SetZ-score
1Nasal polyposis (HP:0100582)9.81754827
2Abnormality of the nasal mucosa (HP:0000433)8.23226204
3Elevated erythrocyte sedimentation rate (HP:0003565)7.05156686
4Zonular cataract (HP:0010920)6.74518063
5Myositis (HP:0100614)6.45594815
6Abnormality of pyrimidine metabolism (HP:0004353)6.37270026
7Abnormality of monocarboxylic acid metabolism (HP:0010996)5.24815838
8Abnormality of T cell physiology (HP:0011840)5.01495064
9Thrombocytosis (HP:0001894)4.79107519
10Abnormality of T cells (HP:0002843)4.58466381
11Abnormality of macrophages (HP:0004311)4.57119937
12Eczematoid dermatitis (HP:0000976)4.49212449
13Hemiplegia (HP:0002301)4.11915241
14Interstitial pulmonary disease (HP:0006530)4.09326908
15Megaloblastic anemia (HP:0001889)4.05678002
16Recurrent abscess formation (HP:0002722)3.82288446
17Recurrent bacterial skin infections (HP:0005406)3.79936241
18Abnormality of T cell number (HP:0011839)3.76402344
19T lymphocytopenia (HP:0005403)3.65796813
20Poikilocytosis (HP:0004447)3.47686948
21Encephalitis (HP:0002383)3.42731509
22Stomatitis (HP:0010280)3.38315382
23Spinal muscular atrophy (HP:0007269)3.37056789
24Optic neuritis (HP:0100653)3.35621548
25Retrobulbar optic neuritis (HP:0100654)3.35621548
26Orchitis (HP:0100796)3.34528359
27Hypoproteinemia (HP:0003075)3.18029623
28Stomach cancer (HP:0012126)3.17057738
29Degeneration of anterior horn cells (HP:0002398)3.16969801
30Abnormality of the anterior horn cell (HP:0006802)3.16969801
31Diaphragmatic weakness (HP:0009113)3.14422979
32Abnormal delayed hypersensitivity skin test (HP:0002963)3.13042831
33Recurrent fungal infections (HP:0002841)3.10557182
34Hypergammaglobulinemia (HP:0010702)3.09947525
35Meningitis (HP:0001287)3.04140505
36Obstructive sleep apnea (HP:0002870)2.93609221
37Hypsarrhythmia (HP:0002521)2.93269699
38Stridor (HP:0010307)2.85527145
39Pustule (HP:0200039)2.82310463
40Prolonged bleeding time (HP:0003010)2.81833313
41Increased serum ferritin (HP:0003281)2.81699180
42EEG with generalized epileptiform discharges (HP:0011198)2.79672299
43Cheilitis (HP:0100825)2.75537109
44Increased IgM level (HP:0003496)2.72412426
45Abnormality of the common coagulation pathway (HP:0010990)2.68935932
46Epileptiform EEG discharges (HP:0011182)2.68850258
47Spontaneous hematomas (HP:0007420)2.65120992
48Recurrent gram-negative bacterial infections (HP:0005420)2.60305121
49Chest pain (HP:0100749)2.56457620
50Arterial thrombosis (HP:0004420)2.54395771
51Urticaria (HP:0001025)2.52924307
52Recurrent skin infections (HP:0001581)2.51416368
53Gingival bleeding (HP:0000225)2.45089170
54Leukocytosis (HP:0001974)2.43410220
55Abnormality of iron homeostasis (HP:0011031)2.40473159
56J-shaped sella turcica (HP:0002680)2.38032802
57Weak cry (HP:0001612)2.36562152
58Facial diplegia (HP:0001349)2.35020857
59Keratoconjunctivitis sicca (HP:0001097)2.34842388
60Vacuolated lymphocytes (HP:0001922)2.34511877
61Eosinophilia (HP:0001880)2.34060187
62Gastrointestinal infarctions (HP:0005244)2.32153625
63Chronic obstructive pulmonary disease (HP:0006510)2.30051466
64Obstructive lung disease (HP:0006536)2.30051466
65Chronic mucocutaneous candidiasis (HP:0002728)2.29768519
66Recurrent cutaneous fungal infections (HP:0011370)2.29768519
67Mediastinal lymphadenopathy (HP:0100721)2.29252389
68Granulocytopenia (HP:0001913)2.28182129
69Impaired platelet aggregation (HP:0003540)2.27069332
70Abnormal platelet function (HP:0011869)2.27069332
71Panhypogammaglobulinemia (HP:0003139)2.26195915
72Vasculitis (HP:0002633)2.23763030
73Keratoconjunctivitis (HP:0001096)2.22970477
74Erythema (HP:0010783)2.21328665
75Epistaxis (HP:0000421)2.17761891
76Gingivitis (HP:0000230)2.16590320
77Fatigue (HP:0012378)2.14666231
78Increased IgE level (HP:0003212)2.12029192
79Increased CSF protein (HP:0002922)2.11468733
80Parakeratosis (HP:0001036)2.10881971
81Hypochromic anemia (HP:0001931)2.10250890
82Delayed CNS myelination (HP:0002188)2.09773589
83Abnormality of eosinophils (HP:0001879)2.08703749
84Autoimmune thrombocytopenia (HP:0001973)2.04705716
85Hemoptysis (HP:0002105)2.04147272
86Joint swelling (HP:0001386)2.02228813
87Severe combined immunodeficiency (HP:0004430)1.96957011
88Abnormality of transition element cation homeostasis (HP:0011030)1.96830828
89Conjugated hyperbilirubinemia (HP:0002908)1.92950392
90Alopecia of scalp (HP:0002293)1.92563334
91Abnormality of nucleobase metabolism (HP:0010932)1.92248461
92Amaurosis fugax (HP:0100576)1.91824544
93Pulmonary infiltrates (HP:0002113)1.90714196
94Petechiae (HP:0000967)1.90708317
95Chronic diarrhea (HP:0002028)1.90172547
96Recurrent bronchitis (HP:0002837)1.89299892
97Autoimmune hemolytic anemia (HP:0001890)1.86885770
983-Methylglutaconic aciduria (HP:0003535)1.86251047
99Recurrent viral infections (HP:0004429)1.83298747
100Tetraplegia (HP:0002445)1.82754247

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ITK5.91122596
2ZAP705.42347847
3PTK2B4.32503897
4MAP4K12.98678636
5RIPK42.78212828
6FES2.53722126
7TXK2.44405156
8BTK2.37247341
9TBK12.32920935
10EPHB12.31082318
11CSK2.22545404
12MAPK72.15702639
13PRKG22.15278500
14MAP3K121.98372546
15SYK1.94643352
16TGFBR21.91159269
17MAP3K71.83366358
18JAK11.79154498
19PIM11.72579287
20BLK1.71443236
21GRK61.68597233
22GSK3A1.63454239
23IRAK41.59059789
24CDK41.52804690
25TNK21.51255166
26JAK31.47259117
27STK391.41613840
28HCK1.41476424
29PDGFRB1.37130590
30WNK41.36755702
31PRPF4B1.35639597
32MAP2K31.25826454
33TAOK31.25718611
34STK101.23262210
35LCK1.22487170
36CDK31.19595894
37TYK21.18279752
38PAK41.17224450
39LYN1.14020132
40TESK21.12546001
41GRK71.10158653
42ERN11.06548289
43TEC0.96583612
44TAOK10.94864834
45MYLK0.92445521
46MAP3K30.87855913
47PIK3CG0.80142959
48CHEK20.78821519
49FGR0.76473469
50STK380.75654006
51JAK20.74054178
52PDK10.73171274
53PRKCZ0.72349506
54LRRK20.65727625
55FYN0.65487103
56IKBKE0.65026228
57MARK30.63047397
58KDR0.62855400
59KIT0.62774961
60PTK60.61352777
61BMPR20.56870710
62MOS0.56743617
63PRKCQ0.55964335
64SIK30.55499893
65ILK0.55061351
66WNK10.54231405
67MAP3K140.53309846
68CSF1R0.50220901
69MAP2K60.48881177
70YES10.47669338
71GRK50.47147181
72INSR0.46981317
73MAP3K110.45206303
74MARK20.42577395
75PRKCH0.40902907
76IKBKB0.35658921
77DAPK10.35177158
78PRKAA20.34781148
79PIK3CA0.34186459
80MAPK120.33799473
81PDPK10.33216192
82IGF1R0.32730051
83FRK0.32666627
84FER0.30428365
85MAP3K10.29995484
86MATK0.29004509
87CSNK1A10.29002208
88PRKACG0.27713538
89EPHA30.27322948
90PKN10.24657753
91SIK20.24434520
92TAOK20.23788270
93RET0.22845978
94STK40.22376749
95ADRBK10.20029439
96PRKD20.19323057
97IRAK10.19128631
98SGK30.19063059
99CAMKK20.18778760
100PRKCE0.18677185

Predicted pathways (KEGG)

RankGene SetZ-score
1* Graft-versus-host disease_Homo sapiens_hsa053324.26732848
2* Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046504.14583168
3Inflammatory bowel disease (IBD)_Homo sapiens_hsa053213.02953365
4Staphylococcus aureus infection_Homo sapiens_hsa051502.91535872
5Allograft rejection_Homo sapiens_hsa053302.90759345
6Autoimmune thyroid disease_Homo sapiens_hsa053202.76536984
7Viral myocarditis_Homo sapiens_hsa054162.61324651
8Malaria_Homo sapiens_hsa051442.40567423
9T cell receptor signaling pathway_Homo sapiens_hsa046602.39293098
10Leishmaniasis_Homo sapiens_hsa051402.36466864
11Drug metabolism - other enzymes_Homo sapiens_hsa009832.33740792
12Primary immunodeficiency_Homo sapiens_hsa053402.30306085
13* Antigen processing and presentation_Homo sapiens_hsa046122.28017137
14Osteoclast differentiation_Homo sapiens_hsa043802.22676760
15Type I diabetes mellitus_Homo sapiens_hsa049402.21004887
16NF-kappa B signaling pathway_Homo sapiens_hsa040641.95714419
17Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.74162956
18Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.68787224
19Measles_Homo sapiens_hsa051621.66423027
20RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.60239317
21B cell receptor signaling pathway_Homo sapiens_hsa046621.58755014
22Hematopoietic cell lineage_Homo sapiens_hsa046401.43431017
23Toll-like receptor signaling pathway_Homo sapiens_hsa046201.40166862
24NOD-like receptor signaling pathway_Homo sapiens_hsa046211.38198441
25Leukocyte transendothelial migration_Homo sapiens_hsa046701.37264744
26Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.34180639
27Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.33367646
28Chemokine signaling pathway_Homo sapiens_hsa040621.33195896
29VEGF signaling pathway_Homo sapiens_hsa043701.28314459
30Platelet activation_Homo sapiens_hsa046111.28150958
31Tuberculosis_Homo sapiens_hsa051521.26074043
32Toxoplasmosis_Homo sapiens_hsa051451.24555486
33Jak-STAT signaling pathway_Homo sapiens_hsa046301.06725816
34Rheumatoid arthritis_Homo sapiens_hsa053231.06152810
35Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.05571829
36TNF signaling pathway_Homo sapiens_hsa046681.05402801
37Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.04395127
38Choline metabolism in cancer_Homo sapiens_hsa052310.99382650
39Intestinal immune network for IgA production_Homo sapiens_hsa046720.98250328
40Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.96371024
41Herpes simplex infection_Homo sapiens_hsa051680.96172717
42Asthma_Homo sapiens_hsa053100.91388709
43Influenza A_Homo sapiens_hsa051640.90285466
44Neurotrophin signaling pathway_Homo sapiens_hsa047220.90119125
45Legionellosis_Homo sapiens_hsa051340.85798052
46Acute myeloid leukemia_Homo sapiens_hsa052210.84605039
47African trypanosomiasis_Homo sapiens_hsa051430.83412015
48Apoptosis_Homo sapiens_hsa042100.81937698
49Sphingolipid signaling pathway_Homo sapiens_hsa040710.76230402
50Rap1 signaling pathway_Homo sapiens_hsa040150.74079312
51Epstein-Barr virus infection_Homo sapiens_hsa051690.71795779
52Hepatitis B_Homo sapiens_hsa051610.71737517
53AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.70803398
54Non-small cell lung cancer_Homo sapiens_hsa052230.70669135
55Phagosome_Homo sapiens_hsa041450.69814428
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.67932946
57Lysosome_Homo sapiens_hsa041420.65469906
58Pertussis_Homo sapiens_hsa051330.60652579
59HTLV-I infection_Homo sapiens_hsa051660.60112091
60GnRH signaling pathway_Homo sapiens_hsa049120.57970097
61Regulation of actin cytoskeleton_Homo sapiens_hsa048100.57896472
62Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.57415269
63Insulin resistance_Homo sapiens_hsa049310.57270281
64Phospholipase D signaling pathway_Homo sapiens_hsa040720.56134478
65Pancreatic cancer_Homo sapiens_hsa052120.55237091
66Hepatitis C_Homo sapiens_hsa051600.52346158
67MAPK signaling pathway_Homo sapiens_hsa040100.50315610
68Oxytocin signaling pathway_Homo sapiens_hsa049210.48991622
69Phosphatidylinositol signaling system_Homo sapiens_hsa040700.48511232
70Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.47790960
71Carbohydrate digestion and absorption_Homo sapiens_hsa049730.47787792
72RNA degradation_Homo sapiens_hsa030180.47572836
73Prolactin signaling pathway_Homo sapiens_hsa049170.47310817
74HIF-1 signaling pathway_Homo sapiens_hsa040660.47148552
75FoxO signaling pathway_Homo sapiens_hsa040680.46618287
76Shigellosis_Homo sapiens_hsa051310.44435930
77Endocytosis_Homo sapiens_hsa041440.43685996
78Renal cell carcinoma_Homo sapiens_hsa052110.40282024
79Ras signaling pathway_Homo sapiens_hsa040140.40065252
80Arginine biosynthesis_Homo sapiens_hsa002200.38626171
81Estrogen signaling pathway_Homo sapiens_hsa049150.38043634
82Systemic lupus erythematosus_Homo sapiens_hsa053220.37766281
83Chronic myeloid leukemia_Homo sapiens_hsa052200.36104118
84Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.34789331
85Viral carcinogenesis_Homo sapiens_hsa052030.34701141
86Colorectal cancer_Homo sapiens_hsa052100.34199375
87Gap junction_Homo sapiens_hsa045400.33901456
88Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.33585487
89SNARE interactions in vesicular transport_Homo sapiens_hsa041300.28614689
90Transcriptional misregulation in cancer_Homo sapiens_hsa052020.27197813
91Salmonella infection_Homo sapiens_hsa051320.25355918
92Type II diabetes mellitus_Homo sapiens_hsa049300.24450858
93Amoebiasis_Homo sapiens_hsa051460.21063448
94Endometrial cancer_Homo sapiens_hsa052130.20942742
95Morphine addiction_Homo sapiens_hsa050320.20143292
96Olfactory transduction_Homo sapiens_hsa047400.19351110
97Base excision repair_Homo sapiens_hsa034100.19347779
98Glycerolipid metabolism_Homo sapiens_hsa005610.19048063
99Ovarian steroidogenesis_Homo sapiens_hsa049130.18362026
100Adipocytokine signaling pathway_Homo sapiens_hsa049200.18177496

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