NCF1

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: The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neutrophil activation involved in immune response (GO:0002283)6.04318573
2response to peptidoglycan (GO:0032494)5.79523251
3modulation by symbiont of host immune response (GO:0052553)5.70429963
4positive regulation by symbiont of host defense response (GO:0052509)5.70429963
5modulation by symbiont of host defense response (GO:0052031)5.70429963
6modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.70429963
7modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.70429963
8positive regulation by organism of defense response of other organism involved in symbiotic interact5.70429963
9leukocyte aggregation (GO:0070486)5.31566741
10detection of bacterium (GO:0016045)5.16910566
11antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.87182309
12neutrophil activation (GO:0042119)4.76663395
13regulation of interferon-beta biosynthetic process (GO:0045357)4.73956372
14granulocyte activation (GO:0036230)4.58384923
15macrophage activation involved in immune response (GO:0002281)4.55936780
16immunoglobulin mediated immune response (GO:0016064)4.50074906
17regulation of B cell receptor signaling pathway (GO:0050855)4.49981046
18* respiratory burst (GO:0045730)4.48914720
19detection of external biotic stimulus (GO:0098581)4.40267141
20leukocyte migration involved in inflammatory response (GO:0002523)4.33730292
21response to host immune response (GO:0052572)4.31342237
22response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.31342237
23positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)4.27608445
24cellular extravasation (GO:0045123)4.22787814
25positive regulation of antigen processing and presentation (GO:0002579)4.20540272
26positive regulation of gamma-delta T cell activation (GO:0046645)4.18523187
27negative regulation of lymphocyte mediated immunity (GO:0002707)4.11882924
28response to muramyl dipeptide (GO:0032495)4.11582605
29antigen processing and presentation of endogenous antigen (GO:0019883)4.10022177
30positive regulation of interleukin-8 biosynthetic process (GO:0045416)4.07260043
31positive regulation of interferon-alpha production (GO:0032727)4.04030908
32detection of molecule of bacterial origin (GO:0032490)4.02634237
33regulation of gamma-delta T cell activation (GO:0046643)4.01657559
34response to host (GO:0075136)3.91090967
35response to host defenses (GO:0052200)3.91090967
36response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.91090967
37regulation of dendritic cell antigen processing and presentation (GO:0002604)3.88579574
38antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.86294982
39antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.86294982
40positive regulation of B cell differentiation (GO:0045579)3.84193795
41regulation of interferon-alpha production (GO:0032647)3.83925092
42detection of biotic stimulus (GO:0009595)3.83299815
43response to interleukin-15 (GO:0070672)3.81395301
44negative regulation of cell killing (GO:0031342)3.79088795
45negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.79088795
46myeloid cell activation involved in immune response (GO:0002275)3.76715991
47regulation of mast cell degranulation (GO:0043304)3.68768543
48* neutrophil mediated immunity (GO:0002446)3.67080892
49defense response to fungus (GO:0050832)3.66797062
50negative regulation of leukocyte mediated immunity (GO:0002704)3.66383338
51* response to fungus (GO:0009620)3.63738842
52production of molecular mediator involved in inflammatory response (GO:0002532)3.61299726
53cellular response to zinc ion (GO:0071294)3.59626005
54regulation of antigen processing and presentation (GO:0002577)3.58226376
55regulation of B cell differentiation (GO:0045577)3.57759331
56cellular response to interleukin-15 (GO:0071350)3.55865973
57NIK/NF-kappaB signaling (GO:0038061)3.55501124
58negative regulation of T cell mediated immunity (GO:0002710)3.52092985
59regulation of mast cell activation (GO:0033003)3.51973660
60positive regulation of mast cell activation (GO:0033005)3.51758143
61microglial cell activation (GO:0001774)3.50596988
62regulation of mast cell activation involved in immune response (GO:0033006)3.47613284
63lipopolysaccharide-mediated signaling pathway (GO:0031663)3.40152527
64defense response to protozoan (GO:0042832)3.39968224
65Arp2/3 complex-mediated actin nucleation (GO:0034314)3.36733743
66B cell receptor signaling pathway (GO:0050853)3.36109182
67B cell mediated immunity (GO:0019724)3.35042231
68negative regulation of interleukin-12 production (GO:0032695)3.34602690
69regulation of myeloid leukocyte mediated immunity (GO:0002886)3.34505846
70neutrophil chemotaxis (GO:0030593)3.34173222
71negative regulation of phagocytosis (GO:0050765)3.33148027
72positive regulation of mast cell degranulation (GO:0043306)3.32094138
73positive regulation of mast cell activation involved in immune response (GO:0033008)3.32094138
74regulation of leukocyte degranulation (GO:0043300)3.31786381
75negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.31171393
76natural killer cell mediated cytotoxicity (GO:0042267)3.30850900
77natural killer cell mediated immunity (GO:0002228)3.30850900
78regulation of T cell tolerance induction (GO:0002664)3.28512648
79regulation of gamma-delta T cell differentiation (GO:0045586)3.27539634
80regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.24936974
81neutrophil migration (GO:1990266)3.24497980
82leukocyte cell-cell adhesion (GO:0007159)3.21778667
83negative regulation of growth of symbiont involved in interaction with host (GO:0044146)3.21643017
84modulation of growth of symbiont involved in interaction with host (GO:0044144)3.21643017
85regulation of growth of symbiont in host (GO:0044126)3.21643017
86negative regulation of growth of symbiont in host (GO:0044130)3.21643017
87germinal center formation (GO:0002467)3.20072961
88interferon-gamma-mediated signaling pathway (GO:0060333)3.19309781
89myeloid dendritic cell activation (GO:0001773)3.19130255
90regulation of T cell mediated cytotoxicity (GO:0001914)3.17962318
91macrophage activation (GO:0042116)3.16961343
92T-helper 1 type immune response (GO:0042088)3.16104962
93regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.15731899
94T cell migration (GO:0072678)3.14067833
95myeloid dendritic cell differentiation (GO:0043011)3.13379158
96positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.13213838
97* leukocyte mediated cytotoxicity (GO:0001909)3.10428762
98antigen processing and presentation via MHC class Ib (GO:0002475)3.09898110
99regulation of tolerance induction (GO:0002643)3.09868433
100positive regulation of T cell mediated cytotoxicity (GO:0001916)3.08416784
101response to protozoan (GO:0001562)3.07898263
102regulation of T-helper 2 cell differentiation (GO:0045628)3.05750538
103regulation of alpha-beta T cell proliferation (GO:0046640)3.04185980
104positive thymic T cell selection (GO:0045059)3.04074060
105negative regulation of cytokine production involved in immune response (GO:0002719)3.04040628
106myeloid leukocyte activation (GO:0002274)3.02696918
107detection of other organism (GO:0098543)3.02436819
108regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.01674506
109negative regulation of innate immune response (GO:0045824)3.00705740
110positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.00345639
111leukocyte degranulation (GO:0043299)3.00332856
112negative thymic T cell selection (GO:0045060)2.99841181
113sequestering of metal ion (GO:0051238)2.99828771
114regulation of natural killer cell mediated immunity (GO:0002715)2.98306967
115regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.98306967
116pinocytosis (GO:0006907)2.96979320
117negative regulation of interleukin-17 production (GO:0032700)2.96583047
118dendritic cell differentiation (GO:0097028)2.95656194
119regulation of interleukin-12 biosynthetic process (GO:0045075)2.95314689
120positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.95267553
121positive regulation of interferon-beta production (GO:0032728)2.94861408
122positive regulation of type 2 immune response (GO:0002830)2.94449691
123negative regulation of alpha-beta T cell activation (GO:0046636)2.94081814
124regulation of interleukin-8 biosynthetic process (GO:0045414)2.93577463
125response to type I interferon (GO:0034340)2.90624880
126type I interferon signaling pathway (GO:0060337)2.90557214
127cellular response to type I interferon (GO:0071357)2.90557214
128negative regulation of interleukin-6 production (GO:0032715)2.90244929
129positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.88262121
130granulocyte migration (GO:0097530)2.87713603
131granulocyte chemotaxis (GO:0071621)2.87055054
132regulation of T-helper 1 cell differentiation (GO:0045625)2.86797223
133macrophage differentiation (GO:0030225)2.85982018
134positive regulation of interleukin-12 production (GO:0032735)2.83493106
135positive regulation of toll-like receptor signaling pathway (GO:0034123)2.81349933

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* IRF8_21731497_ChIP-ChIP_J774_Mouse5.92663928
2IRF8_22096565_ChIP-ChIP_GC-B_Human5.47837721
3BP1_19119308_ChIP-ChIP_Hs578T_Human4.89693043
4* IRF8_27001747_Chip-Seq_BMDM_Mouse4.22294733
5SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse4.08420368
6* MECOM_23826213_ChIP-Seq_KASUMI_Mouse4.01033101
7MYB_21317192_ChIP-Seq_ERMYB_Mouse3.78723013
8* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.60067964
9IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.57917407
10EGR1_19374776_ChIP-ChIP_THP-1_Human3.51408080
11STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.40797335
12* SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.00392314
13FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.99261293
14Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.98356716
15IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.94507459
16NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.79536517
17BRD4_27068464_Chip-Seq_AML-cells_Mouse2.76550188
18SPI1_23547873_ChIP-Seq_NB4_Human2.73644768
19VDR_21846776_ChIP-Seq_THP-1_Human2.70033729
20E2F7_22180533_ChIP-Seq_HELA_Human2.67985243
21STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.63693898
22SCL_19346495_ChIP-Seq_HPC-7_Human2.58535223
23VDR_24763502_ChIP-Seq_THP-1_Human2.39749710
24STAT4_19710469_ChIP-ChIP_TH1__Mouse2.38496363
25RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.33233327
26RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.31258263
27NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.21189394
28* SPI1_23127762_ChIP-Seq_K562_Human2.16192743
29RUNX1_22412390_ChIP-Seq_EML_Mouse2.11853477
30MYB_26560356_Chip-Seq_TH2_Human2.09000046
31SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.06483420
32MAF_26560356_Chip-Seq_TH1_Human2.03391199
33ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.02894973
34MYC_22102868_ChIP-Seq_BL_Human1.93630774
35RUNX_20019798_ChIP-Seq_JUKART_Human1.90194541
36* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.90184578
37STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.88079167
38PU_27001747_Chip-Seq_BMDM_Mouse1.85676063
39MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.83724299
40MYB_26560356_Chip-Seq_TH1_Human1.82848905
41PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.76939030
42E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.72619307
43FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.70794790
44UTX_26944678_Chip-Seq_JUKART_Human1.69173882
45VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.63283762
46CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.61360917
47* TCF7_22412390_ChIP-Seq_EML_Mouse1.59335431
48LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.57011294
49CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.54245392
50VDR_24787735_ChIP-Seq_THP-1_Human1.51780550
51FOXM1_23109430_ChIP-Seq_U2OS_Human1.44711935
52GATA2_22383799_ChIP-Seq_G1ME_Mouse1.44128822
53GATA1_22025678_ChIP-Seq_K562_Human1.39922521
54SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.39527262
55NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.39010843
56SMAD_19615063_ChIP-ChIP_OVARY_Human1.37863520
57TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.35328989
58GATA3_27048872_Chip-Seq_THYMUS_Human1.34194499
59CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.31841923
60PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.29609593
61STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.28271091
62CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.26335620
63PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.24023232
64* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.23933150
65LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.23723703
66VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.23596763
67* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.22434980
68CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.21112182
69GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.21003792
70GATA3_26560356_Chip-Seq_TH2_Human1.20427373
71BCOR_27268052_Chip-Seq_Bcells_Human1.17656495
72THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.16582625
73MAF_26560356_Chip-Seq_TH2_Human1.16304615
74ELK3_25401928_ChIP-Seq_HUVEC_Human1.15803659
75PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.15431141
76STAT6_21828071_ChIP-Seq_BEAS2B_Human1.15242457
77GATA1_19941827_ChIP-Seq_MEL_Mouse1.13612735
78TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.09171939
79TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.08999062
80KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.08695092
81KDM2B_26808549_Chip-Seq_JURKAT_Human1.08539042
82KDM2B_26808549_Chip-Seq_SUP-B15_Human1.08532921
83KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.01797845
84GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.00599244
85KDM2B_26808549_Chip-Seq_DND41_Human1.00525663
86GATA2_21666600_ChIP-Seq_HMVEC_Human0.99402517
87TFEB_21752829_ChIP-Seq_HELA_Human0.94040506
88CTCF_27219007_Chip-Seq_ERYTHROID_Human0.90928952
89ELF1_20517297_ChIP-Seq_JURKAT_Human0.90780915
90RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88670215
91SPI1_20517297_ChIP-Seq_HL60_Human0.86774361
92HOXB4_20404135_ChIP-ChIP_EML_Mouse0.86518888
93GATA2_19941826_ChIP-Seq_K562_Human0.85439219
94PU.1_20513432_ChIP-Seq_Bcells_Mouse0.85187697
95SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82561995
96ERG_20887958_ChIP-Seq_HPC-7_Mouse0.81841164
97ELF1_17652178_ChIP-ChIP_JURKAT_Human0.81542671
98GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81223370
99SA1_27219007_Chip-Seq_ERYTHROID_Human0.81191204
100CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.78770716
101NOTCH1_21737748_ChIP-Seq_TLL_Human0.75993698
102LXR_22292898_ChIP-Seq_THP-1_Human0.74664215
103GATA1_19941826_ChIP-Seq_K562_Human0.73453779
104BCL6_27268052_Chip-Seq_Bcells_Human0.71071703
105TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.70334370
106NCOR1_26117541_ChIP-Seq_K562_Human0.69921885
107SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.65383186
108IKZF1_21737484_ChIP-ChIP_HCT116_Human0.65194509
109GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.65028026
110P300_27268052_Chip-Seq_Bcells_Human0.63958339
111ETS1_22383799_ChIP-Seq_G1ME_Mouse0.63667745

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.57610999
2MP0003303_peritoneal_inflammation4.25854577
3MP0003436_decreased_susceptibility_to3.94077009
4MP0009785_altered_susceptibility_to3.42563803
5* MP0002419_abnormal_innate_immunity3.30786444
6MP0000685_abnormal_immune_system3.13884094
7MP0005000_abnormal_immune_tolerance3.02267429
8MP0002148_abnormal_hypersensitivity_rea2.99905963
9MP0001790_abnormal_immune_system2.92451169
10MP0005387_immune_system_phenotype2.92451169
11MP0005025_abnormal_response_to2.91991470
12MP0001800_abnormal_humoral_immune2.80651635
13MP0005058_abnormal_lysosome_morphology2.77816308
14* MP0002452_abnormal_antigen_presenting2.77368356
15MP0006082_CNS_inflammation2.57858479
16MP0002723_abnormal_immune_serum2.56414084
17MP0005671_abnormal_response_to2.54358577
18MP0005464_abnormal_platelet_physiology2.51088688
19MP0003172_abnormal_lysosome_physiology2.46244844
20* MP0001819_abnormal_immune_cell2.45572642
21* MP0002420_abnormal_adaptive_immunity2.44641610
22MP0004510_myositis2.37596757
23MP0009278_abnormal_bone_marrow2.26770229
24MP0002405_respiratory_system_inflammati2.15648910
25MP0000569_abnormal_digit_pigmentation2.11241758
26MP0001533_abnormal_skeleton_physiology2.04002510
27MP0003724_increased_susceptibility_to2.03270547
28MP0001853_heart_inflammation1.95657944
29MP0003300_gastrointestinal_ulcer1.91912181
30* MP0001845_abnormal_inflammatory_respons1.91571487
31MP0000716_abnormal_immune_system1.89865804
32MP0002398_abnormal_bone_marrow1.89539424
33MP0004947_skin_inflammation1.73821922
34MP0001545_abnormal_hematopoietic_system1.68494118
35MP0005397_hematopoietic_system_phenotyp1.68494118
36MP0010155_abnormal_intestine_physiology1.65314844
37MP0002396_abnormal_hematopoietic_system1.63281093
38MP0005174_abnormal_tail_pigmentation1.62918196
39MP0000689_abnormal_spleen_morphology1.62222501
40MP0002166_altered_tumor_susceptibility1.61100643
41MP0003191_abnormal_cellular_cholesterol1.61096060
42MP0005310_abnormal_salivary_gland1.60560122
43MP0005451_abnormal_body_composition1.59122418
44MP0002429_abnormal_blood_cell1.57647598
45MP0002132_abnormal_respiratory_system1.56807954
46* MP0008469_abnormal_protein_level1.53211133
47MP0002722_abnormal_immune_system1.50635108
48MP0002006_tumorigenesis1.46828553
49MP0003075_altered_response_to1.46689900
50MP0003448_altered_tumor_morphology1.46472582
51MP0001873_stomach_inflammation1.45213892
52MP0001851_eye_inflammation1.43847647
53MP0009333_abnormal_splenocyte_physiolog1.42767023
54MP0009764_decreased_sensitivity_to1.38093914
55MP0000858_altered_metastatic_potential1.36666442
56* MP0000343_altered_response_to1.36178841
57MP0000465_gastrointestinal_hemorrhage1.32420314
58MP0009840_abnormal_foam_cell1.29905699
59MP0004808_abnormal_hematopoietic_stem1.28707814
60MP0010307_abnormal_tumor_latency1.26430659
61MP0002254_reproductive_system_inflammat1.25969670
62MP0004381_abnormal_hair_follicle1.13682324
63MP0005076_abnormal_cell_differentiation1.13037314
64MP0003566_abnormal_cell_adhesion1.10182441
65MP0003763_abnormal_thymus_physiology1.08859346
66MP0000015_abnormal_ear_pigmentation1.06351686
67MP0002933_joint_inflammation1.06016148
68MP0002998_abnormal_bone_remodeling1.04639986
69MP0003806_abnormal_nucleotide_metabolis1.03084496
70MP0000604_amyloidosis1.01136578
71MP0002277_abnormal_respiratory_mucosa1.00194446
72MP0005166_decreased_susceptibility_to0.96725471
73MP0003656_abnormal_erythrocyte_physiolo0.96082586
74MP0003828_pulmonary_edema0.95699187
75MP0000490_abnormal_crypts_of0.93747099
76MP0000703_abnormal_thymus_morphology0.93565320
77MP0002138_abnormal_hepatobiliary_system0.92760199
78MP0005167_abnormal_blood-brain_barrier0.92280870
79MP0008004_abnormal_stomach_pH0.88944491
80MP0005390_skeleton_phenotype0.88408766
81MP0008260_abnormal_autophagy0.85433814
82MP0003045_fibrosis0.84058889
83MP0000371_diluted_coat_color0.81324943
84* MP0009763_increased_sensitivity_to0.79848819
85* MP0004883_abnormal_blood_vessel0.79076388
86MP0010352_gastrointestinal_tract_polyps0.77493454
87MP0003690_abnormal_glial_cell0.76016796
88MP0003453_abnormal_keratinocyte_physiol0.74301870
89MP0008874_decreased_physiological_sensi0.74261994
90MP0001663_abnormal_digestive_system0.73077098
91MP0003866_abnormal_defecation0.71708996
92MP0005023_abnormal_wound_healing0.69305629
93MP0001958_emphysema0.66204298
94* MP0000249_abnormal_blood_vessel0.65379098
95MP0003091_abnormal_cell_migration0.64778312
96MP0003795_abnormal_bone_structure0.63615740
97MP0001986_abnormal_taste_sensitivity0.63545720
98MP0002019_abnormal_tumor_incidence0.63098136
99MP0004782_abnormal_surfactant_physiolog0.62043232
100MP0002332_abnormal_exercise_endurance0.61287782
101MP0002095_abnormal_skin_pigmentation0.55990870
102MP0003221_abnormal_cardiomyocyte_apopto0.53283738
103MP0002693_abnormal_pancreas_physiology0.53045332
104* MP0005164_abnormal_response_to0.52440049
105MP0008057_abnormal_DNA_replication0.51823060
106MP0002877_abnormal_melanocyte_morpholog0.51792679
107MP0008873_increased_physiological_sensi0.51207257
108MP0002136_abnormal_kidney_physiology0.50980737
109MP0005381_digestive/alimentary_phenotyp0.48044555
110MP0000609_abnormal_liver_physiology0.47494856
111MP0005621_abnormal_cell_physiology0.46934713
112* MP0005319_abnormal_enzyme/_coenzyme0.46682094
113MP0009765_abnormal_xenobiotic_induced0.46067935
114MP0000920_abnormal_myelination0.45889665
115MP0005075_abnormal_melanosome_morpholog0.44627287
116MP0003186_abnormal_redox_activity0.43943974

Predicted human phenotypes

RankGene SetZ-score
1* Recurrent abscess formation (HP:0002722)7.79046163
2* Recurrent bacterial skin infections (HP:0005406)6.86733241
3* Eczematoid dermatitis (HP:0000976)6.24518841
4* Recurrent gram-negative bacterial infections (HP:0005420)5.15442006
5* Abnormality of macrophages (HP:0004311)4.68797788
6* Recurrent skin infections (HP:0001581)4.51446545
7Myositis (HP:0100614)4.41243300
8* Mediastinal lymphadenopathy (HP:0100721)4.25388708
9Elevated erythrocyte sedimentation rate (HP:0003565)4.24633758
10Gastrointestinal infarctions (HP:0005244)4.22391743
11* Recurrent fungal infections (HP:0002841)4.19374181
12* Chronic obstructive pulmonary disease (HP:0006510)4.11689335
13* Obstructive lung disease (HP:0006536)4.11689335
14Stomatitis (HP:0010280)4.02954603
15Vacuolated lymphocytes (HP:0001922)3.98546510
16Systemic lupus erythematosus (HP:0002725)3.96331206
17Increased cerebral lipofuscin (HP:0011813)3.87606795
18Hypochromic microcytic anemia (HP:0004840)3.84093830
19Recurrent cutaneous fungal infections (HP:0011370)3.78836859
20Chronic mucocutaneous candidiasis (HP:0002728)3.78836859
21* Gingivitis (HP:0000230)3.76412223
22Recurrent viral infections (HP:0004429)3.72628716
23Orchitis (HP:0100796)3.56528812
24Increased neuronal autofluorescent lipopigment (HP:0002074)3.55249756
25Vasculitis (HP:0002633)3.47109420
26Chronic otitis media (HP:0000389)3.41550409
27Hypochromic anemia (HP:0001931)3.41181222
28* Cellulitis (HP:0100658)3.40629212
29Periodontitis (HP:0000704)3.38032065
30* Meningitis (HP:0001287)3.33752898
31Retrobulbar optic neuritis (HP:0100654)3.26414040
32Optic neuritis (HP:0100653)3.26414040
33Autoimmune thrombocytopenia (HP:0001973)3.13138547
34Pustule (HP:0200039)3.12799401
35Abnormality of liposaccharide metabolism (HP:0010968)3.10350458
36Abnormality of glycosphingolipid metabolism (HP:0004343)3.10350458
37Abnormality of glycolipid metabolism (HP:0010969)3.10350458
38Abnormal delayed hypersensitivity skin test (HP:0002963)3.09369918
39Disinhibition (HP:0000734)3.08764462
40Interstitial pulmonary disease (HP:0006530)3.07744242
41Dysostosis multiplex (HP:0000943)3.05092013
42Colitis (HP:0002583)3.04093780
43Inflammation of the large intestine (HP:0002037)3.02209966
44Increased IgM level (HP:0003496)2.99283030
45Hematochezia (HP:0002573)2.91616408
46Episodic fever (HP:0001954)2.91016141
47Gastrointestinal inflammation (HP:0004386)2.83861406
48* Urticaria (HP:0001025)2.80185119
49IgM deficiency (HP:0002850)2.78550296
50Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.77690464
51T lymphocytopenia (HP:0005403)2.77596364
52Anorexia (HP:0002039)2.76703111
53Recurrent sinusitis (HP:0011108)2.75182800
54Pulmonary infiltrates (HP:0002113)2.74062776
55Glomerulonephritis (HP:0000099)2.72328976
56Spontaneous hematomas (HP:0007420)2.71435015
57Abnormality of T cell number (HP:0011839)2.70793649
58Leukocytosis (HP:0001974)2.69561772
59Abnormality of T cells (HP:0002843)2.67428891
60Pulmonary embolism (HP:0002204)2.64988158
61Urinary glycosaminoglycan excretion (HP:0003541)2.61860598
62Mucopolysacchariduria (HP:0008155)2.61860598
63Petechiae (HP:0000967)2.58648484
64Axonal loss (HP:0003447)2.58577222
65* Osteomyelitis (HP:0002754)2.56069575
66Abnormality of the pleura (HP:0002103)2.54073294
67Basal ganglia calcification (HP:0002135)2.50787866
68Abnormality of mucopolysaccharide metabolism (HP:0011020)2.49350962
69Abnormality of polysaccharide metabolism (HP:0011012)2.49350962
70Abnormality of glycosaminoglycan metabolism (HP:0004371)2.49350962
71Increased IgE level (HP:0003212)2.48463319
72Agnosia (HP:0010524)2.47826481
73Microcytic anemia (HP:0001935)2.45486855
74Hemoptysis (HP:0002105)2.44486406
75Gingival bleeding (HP:0000225)2.44437963
76Thrombocytosis (HP:0001894)2.43603062
77Gangrene (HP:0100758)2.43037437
78Eosinophilia (HP:0001880)2.41905738
79Agammaglobulinemia (HP:0004432)2.41481985
80Peritonitis (HP:0002586)2.40921442
81Premature loss of primary teeth (HP:0006323)2.40492325
82Purpura (HP:0000979)2.40187626
83Arterial thrombosis (HP:0004420)2.38364349
84Abnormality of the peritoneum (HP:0002585)2.28639684
85Keratoconjunctivitis (HP:0001096)2.27078140
86Prostate neoplasm (HP:0100787)2.25915817
87Hepatosplenomegaly (HP:0001433)2.25660651
88Epistaxis (HP:0000421)2.25449264
89Abnormality of the prostate (HP:0008775)2.24213896
90* Recurrent pneumonia (HP:0006532)2.22189341
91Restrictive lung disease (HP:0002091)2.21212416
92Prolonged bleeding time (HP:0003010)2.21205613
93Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.20573159
94Loss of speech (HP:0002371)2.19743282
95Chest pain (HP:0100749)2.18720416
96Increased serum ferritin (HP:0003281)2.17171042
97Hypergammaglobulinemia (HP:0010702)2.16839603
98Gastrointestinal stroma tumor (HP:0100723)2.16718908
99Abnormality of cells of the lymphoid lineage (HP:0012140)2.16111818
100Skin rash (HP:0000988)2.16047908
101Granulocytopenia (HP:0001913)2.15621187
102Glomerulopathy (HP:0100820)2.15572273
103* Skin ulcer (HP:0200042)2.15514265
104Abnormality of T cell physiology (HP:0011840)2.15112882
105Abnormality of the endocardium (HP:0004306)2.14935788
106Lymphopenia (HP:0001888)2.14868489
107Nasal polyposis (HP:0100582)2.14529835
108Keratoconjunctivitis sicca (HP:0001097)2.14307278
109Thoracic kyphosis (HP:0002942)2.12443863
110Abnormality of the pericardium (HP:0001697)2.11516431
111Emphysema (HP:0002097)2.10355563
112Encephalitis (HP:0002383)2.09419810
113* Recurrent lower respiratory tract infections (HP:0002783)2.09260055
114Panhypogammaglobulinemia (HP:0003139)2.07608633
115Recurrent bronchitis (HP:0002837)2.06438300
116Verrucae (HP:0200043)2.05836055
117Papilloma (HP:0012740)2.05836055
118Arthralgia (HP:0002829)2.05814783
119Abnormality of iron homeostasis (HP:0011031)2.02968480
120Keratitis (HP:0000491)1.99100642
121Cheilitis (HP:0100825)1.98335318
122Acne (HP:0001061)1.97164062
123* Sepsis (HP:0100806)1.96797901
124Thick nail (HP:0001805)1.95734882
125Osteolytic defects of the hand bones (HP:0009699)1.94819216
126Osteolytic defects of the phalanges of the hand (HP:0009771)1.94819216
127Abnormality of the nasal mucosa (HP:0000433)1.93955706
128Amyloidosis (HP:0011034)1.92888519
129Myocardial infarction (HP:0001658)1.90796563
130Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.89459384
131Abnormal platelet function (HP:0011869)1.89449997

Predicted kinase interactions (KEA)

RankGene SetZ-score
1RIPK43.95217536
2MAP4K13.85712854
3BLK3.71788566
4MAP3K143.53279854
5TYK23.07374052
6TBK12.85560865
7KIT2.85517132
8IRAK32.63534922
9CSF1R2.47669276
10ERN12.23935366
11PRPF4B2.22975402
12EPHB12.21747875
13BTK2.14562650
14FES2.12276300
15IKBKE2.08917861
16IKBKB1.96272505
17TAOK11.94608940
18JAK31.88998424
19CSK1.87582860
20SYK1.87537940
21HCK1.72990385
22TEC1.72907428
23ZAP701.72309485
24JAK11.71992518
25MAP3K131.70578575
26STK101.67752764
27TGFBR21.54615951
28TAOK31.53843696
29TXK1.50232037
30MAP2K31.47954119
31CLK11.42568629
32GRK61.38945186
33FGR1.36724076
34LYN1.32970183
35FLT31.25422167
36* IRAK41.24890450
37MAP3K11.22576913
38LCK1.22129562
39RPS6KA41.15738328
40TAOK21.15382587
41LRRK21.13013533
42KSR21.13007312
43PIM11.12670147
44CHUK1.12487061
45ITK1.08860858
46SIK21.08129309
47MATK1.07632041
48SMG11.03907572
49JAK20.99230546
50PIM20.99035528
51CDK190.97175468
52TRPM70.96988543
53PRKD20.94953491
54TRIB30.94575161
55MARK30.94437783
56PTK60.94346140
57TTN0.93088664
58MARK20.89052108
59PAK40.88842691
60NEK90.84762039
61PKN20.81879740
62CAMK1D0.81180076
63STK40.78211657
64CDC42BPA0.76895303
65IRAK20.74588360
66MAP3K100.70624564
67TESK20.70120432
68FGFR30.63711488
69ALK0.63107682
70MAPK120.63040422
71SIK30.62546180
72EGFR0.60155653
73ABL10.58823030
74MAP3K110.55949643
75SIK10.55611960
76MAPKAPK20.55058527
77RPS6KA60.54887048
78MAPK70.54679020
79YES10.54471201
80HIPK20.53444313
81EPHA30.52809632
82PTK2B0.52143391
83STK110.51677354
84* PRKCD0.51626130
85RIPK10.51454916
86MAPK40.50834160
87PRKG20.48332791
88NEK20.48099625
89FGFR40.48068742
90MAP3K80.47482667
91CDK120.47271747
92MAP3K30.47204544
93DYRK1B0.46485167
94MAP3K70.45673595
95RPS6KL10.45194326
96RPS6KC10.45194326
97CAMK1G0.44633616
98DAPK20.44402034
99TESK10.43748307
100MAP3K60.43495525
101NME20.42956206
102CDK60.42817455
103EIF2AK20.42773527
104MAP2K40.42287623
105PRKCQ0.40636755
106SCYL20.39987212
107PDK10.39665835
108BMX0.37835941
109RPS6KA20.37565426
110GRK70.36944982
111CAMKK20.36478980
112FYN0.36159810
113MAP2K60.36046144
114RAF10.35360786
115MAP3K50.33397715
116BMPR20.32422549
117SGK30.32413734
118PRKCH0.32261347
119TNK20.32106537
120PBK0.31462094
121CAMKK10.31139233
122PDPK10.31057219
123MOS0.30538048
124MAP3K120.30227190
125ERBB30.30125889
126CDK40.27554177
127RET0.27445197
128PIK3CG0.27382188
129KSR10.27179157
130MAPK110.26748775
131ABL20.26274544
132IRAK10.25604481

Predicted pathways (KEGG)

RankGene SetZ-score
1* Leishmaniasis_Homo sapiens_hsa051403.45163443
2Staphylococcus aureus infection_Homo sapiens_hsa051503.01554813
3* Osteoclast differentiation_Homo sapiens_hsa043802.68029737
4Toll-like receptor signaling pathway_Homo sapiens_hsa046202.49103001
5B cell receptor signaling pathway_Homo sapiens_hsa046622.47639328
6NF-kappa B signaling pathway_Homo sapiens_hsa040642.46745259
7Pertussis_Homo sapiens_hsa051332.27568953
8Tuberculosis_Homo sapiens_hsa051522.26196706
9NOD-like receptor signaling pathway_Homo sapiens_hsa046212.18436120
10Legionellosis_Homo sapiens_hsa051342.14340621
11Glycosaminoglycan degradation_Homo sapiens_hsa005312.12754233
12Asthma_Homo sapiens_hsa053102.08061739
13Other glycan degradation_Homo sapiens_hsa005112.04551833
14Measles_Homo sapiens_hsa051621.93866303
15RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.93564744
16Lysosome_Homo sapiens_hsa041421.87679498
17* Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.86146295
18Malaria_Homo sapiens_hsa051441.83149060
19Intestinal immune network for IgA production_Homo sapiens_hsa046721.80313852
20Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.75471449
21Hematopoietic cell lineage_Homo sapiens_hsa046401.73894192
22Graft-versus-host disease_Homo sapiens_hsa053321.73768114
23Antigen processing and presentation_Homo sapiens_hsa046121.72854234
24Allograft rejection_Homo sapiens_hsa053301.72123614
25Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.68976849
26Toxoplasmosis_Homo sapiens_hsa051451.68353058
27Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.67434876
28Influenza A_Homo sapiens_hsa051641.66675749
29TNF signaling pathway_Homo sapiens_hsa046681.58625502
30Primary immunodeficiency_Homo sapiens_hsa053401.58262372
31Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.58093047
32Shigellosis_Homo sapiens_hsa051311.57730366
33* Chemokine signaling pathway_Homo sapiens_hsa040621.54977065
34Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.47075570
35Herpes simplex infection_Homo sapiens_hsa051681.46212005
36Salmonella infection_Homo sapiens_hsa051321.44742647
37Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.43752363
38Apoptosis_Homo sapiens_hsa042101.42945887
39* Phagosome_Homo sapiens_hsa041451.41552798
40Rheumatoid arthritis_Homo sapiens_hsa053231.36818060
41Jak-STAT signaling pathway_Homo sapiens_hsa046301.33196846
42* Leukocyte transendothelial migration_Homo sapiens_hsa046701.32373655
43Hepatitis B_Homo sapiens_hsa051611.24316405
44African trypanosomiasis_Homo sapiens_hsa051431.21333510
45Acute myeloid leukemia_Homo sapiens_hsa052211.14084318
46Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.13493001
47Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.12119112
48Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.06575473
49Chronic myeloid leukemia_Homo sapiens_hsa052201.00475732
50Viral myocarditis_Homo sapiens_hsa054160.98611227
51T cell receptor signaling pathway_Homo sapiens_hsa046600.97689349
52Platelet activation_Homo sapiens_hsa046110.97318130
53Systemic lupus erythematosus_Homo sapiens_hsa053220.97053198
54Pancreatic cancer_Homo sapiens_hsa052120.96400469
55Hepatitis C_Homo sapiens_hsa051600.95177882
56Neurotrophin signaling pathway_Homo sapiens_hsa047220.94464149
57Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.94199892
58Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.89437909
59Type I diabetes mellitus_Homo sapiens_hsa049400.89140450
60Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.88959964
61AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.88858632
62Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.82457711
63Transcriptional misregulation in cancer_Homo sapiens_hsa052020.80917209
64Epstein-Barr virus infection_Homo sapiens_hsa051690.79738002
65Amoebiasis_Homo sapiens_hsa051460.78355211
66Caffeine metabolism_Homo sapiens_hsa002320.77424722
67Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.71123364
68VEGF signaling pathway_Homo sapiens_hsa043700.66008030
69Viral carcinogenesis_Homo sapiens_hsa052030.57241727
70Sphingolipid signaling pathway_Homo sapiens_hsa040710.56189616
71Prolactin signaling pathway_Homo sapiens_hsa049170.56047143
72Autoimmune thyroid disease_Homo sapiens_hsa053200.53262456
73Small cell lung cancer_Homo sapiens_hsa052220.52724427
74Regulation of actin cytoskeleton_Homo sapiens_hsa048100.49594980
75Non-small cell lung cancer_Homo sapiens_hsa052230.49332041
76Endocytosis_Homo sapiens_hsa041440.45191400
77HIF-1 signaling pathway_Homo sapiens_hsa040660.45072549
78Complement and coagulation cascades_Homo sapiens_hsa046100.43904721
79Carbohydrate digestion and absorption_Homo sapiens_hsa049730.43649347
80Pentose phosphate pathway_Homo sapiens_hsa000300.43023824
81HTLV-I infection_Homo sapiens_hsa051660.41307238
82Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.41232521
83GnRH signaling pathway_Homo sapiens_hsa049120.39834685
84Insulin resistance_Homo sapiens_hsa049310.39624917
85Adipocytokine signaling pathway_Homo sapiens_hsa049200.37987741
86Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.37325681
87Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.36974995
88Choline metabolism in cancer_Homo sapiens_hsa052310.35592807
89Endometrial cancer_Homo sapiens_hsa052130.35553438
90Notch signaling pathway_Homo sapiens_hsa043300.34380106
91Phosphatidylinositol signaling system_Homo sapiens_hsa040700.34230574
92Type II diabetes mellitus_Homo sapiens_hsa049300.34124690
93SNARE interactions in vesicular transport_Homo sapiens_hsa041300.32673469
94ABC transporters_Homo sapiens_hsa020100.32479344
95p53 signaling pathway_Homo sapiens_hsa041150.30524406
96FoxO signaling pathway_Homo sapiens_hsa040680.29566106
97Dorso-ventral axis formation_Homo sapiens_hsa043200.29056591
98Glycerophospholipid metabolism_Homo sapiens_hsa005640.28658120
99Proteoglycans in cancer_Homo sapiens_hsa052050.28120567
100Collecting duct acid secretion_Homo sapiens_hsa049660.27969171
101Rap1 signaling pathway_Homo sapiens_hsa040150.27663365
102MicroRNAs in cancer_Homo sapiens_hsa052060.27644933
103Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.26158965
104DNA replication_Homo sapiens_hsa030300.25446407
105MAPK signaling pathway_Homo sapiens_hsa040100.25300215
106Colorectal cancer_Homo sapiens_hsa052100.24700370
107Bladder cancer_Homo sapiens_hsa052190.24163337
108Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.23339577
109Inositol phosphate metabolism_Homo sapiens_hsa005620.22556479
110Base excision repair_Homo sapiens_hsa034100.20417658
111Sphingolipid metabolism_Homo sapiens_hsa006000.19885766
112mTOR signaling pathway_Homo sapiens_hsa041500.18893642
113Renal cell carcinoma_Homo sapiens_hsa052110.17631602
114Glioma_Homo sapiens_hsa052140.16487786
115Phospholipase D signaling pathway_Homo sapiens_hsa040720.16198698

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